Fight 4 Tylor

World Rare Disease Day-Meet Alejandra

2012-02-07T21:58:00.000-06:00

Patient Stories of Hope and Inspiration

'Meet Alejandra!'

My name is Alejandra Islas. I'm a kindergarten teacher, living in Mexico City, Mexico. I was diagnosed with Hypereosinophilic Syndrome (HES), in 1998, at a time when medical databases showed only six cases with symptoms similar to mine, and with a life expectancy of 6 months.

My symptoms started 13 years ago, while on vacation in Argentina. Initially I had itching on my torso, but quickly started to feel tired, breathless and have heart and lung pain. In what seemed unrelated, I started to feel utter discomfort in my feet. It was as if they were burning, got swollen and I could barely walk on my own.

An initial TAC and x-ray of my lungs showed some strange moving lesions which appeared to be related to parasites. Also my feet continued to bother me and I wasn’t feeling my legs from the knee to the bottom anymore and some skin lesions started to appear… they looked like chickenpox or scarlatina on my torso, vasculitis on the face and a trail of insect bites around my calf. I went to see a dermatologist, who was baffled by them but didn’t think they were a serious condition because the symptoms didn’t match to those of an infection, and he didn’t think the heart pain was related.

Luckily, my father and brother had worked in the pharmaceutical industry, they knew blood tests could reveal something still undetected. A blood test showed that my EOS count was 79,000 (when the upper limit was 6,000). Tests to check for lupus, vasculitis, scleroderma, parasites and more were ordered, but all showed up negative. Some tests were even sent to the US to the CDC in Atlanta, GA, however at that time no one could determine an explanation for my symptoms.

Over the next few months I was feeling worse and worse. Chest pain, tiredness, general sickness, awful pain in my abdomen, joint pain and hot bruises all over my body, and I couldn’t even walk anymore. I had lost several pounds and now I could barely eat.... my body started to reject all food.

In the hospital, doctors prescribed four steroids to at least calm down the pain and to see if that would help with the hypereosinophilia, and it did! And I was finally diagnosed with HES. I am currently treated with a low dose of inhaled beclomethasone, although recently it has become really hard to find around the world.

I have a strong faith and I am certain God performed a miracle where my physicians, all of them at Medica Sur Hospital, in Mexico City, have been His instruments. And of course, I also thank God for my family, without it wouldn't be possible for me to be here today.

Although I live in Mexico, I wear jeans and made denim ribbons to share with family, friends and all those who ask about the meaning of them. I also wear my special bracelet made for this purpose. I am glad to be able to contribute my experience and advice to support others with HES!!

Thank you and God bless you all!!

Alejandra Islas
Mexico City, DF

World Rare Disease Day-Meet Michelle

2012-02-07T21:52:00.001-06:00

Patient Stories of Hope and Inspiration

'Meet Michelle!'

I am 49 year old, single mother who was an US Air Force Reservist, and also worked as a Nurse for 15yrs. In 1999, some strange symptoms started to occur, like bumping into walls, tremors, falls, numbness, tingling, in feet, legs and hands. I also experienced bowel and bladder problems, all within a month that I was off work. I went to a top specialist at UCLA, U of M Ann Arbor, and a few others. I Was told I was a difficult case after many test and exams. I had two separate groups of symptoms. One was cerebellar, which was confirmed by MRI that showed atropy of cerebellum, but there was no answer for my Upper Motor Neuron signs. And most testing was negative or normal.

After 11yrs of having a partial diagnosis of SCA (Spinocerebellar Ataxia), unidentified type. They finally found a rare abnormal gene mutation SET X (or Senataxin). This gene had only been discovered in 2004 and they are still learning about it. They found the UMN disease and my very rare diagnosis is ALS4 with a cerebellar ataxia overlap. I am joining as many clinical trials I can to help find treatment and a cure. I am an advocate locally as part of the Detroit Area Ataxia Support Group. And I dedicate as much time as possible to spreading awareness. I am a member of the National Ataxia Foundation and now the ALS foundation. I am still walking with a walker short distances and waiting for my customized wheelchair to be delivered. I take online classes at University of Phoenix for Computer Information Systems and Graphic Web Design.

Michelle DeCiantis
Michigan

World Rare Disease Day-Meet Anna

2012-02-07T21:49:00.001-06:00

Patient Stories of Hope and Inspiration

'Meet Anna!'

Fourteen and a half years ago, our lives were changed forever. Our one week old baby girl was diagnosed with a disease that we thought was created in a novelist's imagination. We quickly learned that it was a very real, yet rare, disease that would nearly claim our daughter's life.

Our daughter Anna was born with Maple Syrup Urine Disease, a strange name for a potentially fatal disease. Since she was a week old, Anna's life has been dictated by a very restricted diet, frequent blood tests, and constantly fearing elevated amino acid levels that lead to metabolic crisis. Yet she has not let these challenges hold her back from her ambitions.

Anna competes in track and soccer through Special Olympics. She also participates in the yearbook committee at her middle school, and volunteers at an equine therapy ranch. She strives every day that although she may live with a rare disease, this disease will not keep her from enjoying life to the fullest every day.

Paula Ruter
Michigan

World Rare Disease Day-Meet the Wilson Brothers

2012-02-07T21:43:00.000-06:00

Patient Stories of Hope and Inspiration

'Meet the Wilson Brothers!'

My brother, Marshall is my Hero! He saved my life. At 17 months of age, he was diagnosed with a RARE Leukodystrophy called Krabbe's Disease. A genetic disorder affecting the nervous system and it's communication to the brain. There is NO CURE and it is fatal!

Once my family and our doctors determined what was affecting my brother, we were encouraged to have me tested. Exactly one month after his confirmed diagnoses, I tested positive for the same disease. The only difference between the two of us is that I have no symptoms and became a candidate for a cord blood transplant. At four months of age I had a CBT and though I had complications with the chemo treatments, the transplant has been considered a success, as a recent MRI showed no disease activity. Thank You Brother for Saving My Life!

Marshall is now 2.5 years of age and I am 15 months old. Though I am delayed a bit, with all the therapies, love of my family, and spiritual pep talks from my brother, I am thriving, and achieving my developmental milestones, just as my brother hoped for. Without his heroism, I would not be able to SEE my brother, play with my toys, watch a flower bloom, and kiss his angelic cheeks (my brother is blind). I would not be able to giggle and babble and one day tell my brother that I love him, ‘Thank You’, and that he is my hero (my brother never spoke his first word). I can hear my Mommy's voice sing to me, my Daddy talk about fishing, and the fun activities of my brothers and sister (my brother is deaf). I can roll everywhere and sit up; I even get to hug on my brother. I get to smile, eats solid foods, get older. I will go to school, possibly college, and someday I hope to marry and have a family of my own and tell my children the story of my gene family. MY BROTHER................MY HERO!

Tammy Wilson
Oregon

World Rare Disease Day

2012-02-07T21:39:00.000-06:00

Everyday during the month of February and leading up to World RARE Disease Day on February 29th, the Global Genes Project in partnership with the RARE Project will be featering stories of Hope and Inspiration. They are asking that we share these stories and I would love if you would pass them along too....

Patient Stories of Hope and Inspiration

'Meet Peyton!'

Peyton isn't that much different than any other four year old if you ask her. She loves to color and dance and she is a ‘Yo Gabba Gabba’ fanatic. Luckily, she is still blissfully unaware of the stares directed her way when we go to the grocery store or the playground. Peyton was born with Nager Syndrome, a very rare condition that results in craniofacial and upper extremity anomalies. As a result of her lower jaw not developing fully, she underwent a tracheostomy at 3 days old to breathe and a gastrostomy at 3 weeks old to eat. She has severe bilateral hearing loss and has been wearing hearing aids since she was a few months old. She has had two jaw distractions and three hand surgeries. Her life has been filled with xrays, CT scans, doctor appointments, hospitalizations and therapy sessions.

Despite the rarity of Nager Syndrome, with the internet we were able to learn much more in the first few days of her life than what the hospital could provide from their outdated genetics books. We have been able to reach out to other families whose children have Nager Syndrome and have even met a few in person. We are blessed to have strong support from our family, but through the Nager and Miller Foundation we have also felt part of another "family" who understands the unique challenges and joys that we experience with a child like Peyton. Through our blog www.peytonsparents.blogspot.com we have had many families reach out to us who have children that are newly diagnosed. We even had a family contact us before their child was born, and seeing Peyton's smiling face brought them hope in a time of great stress.

The Global Genes/RARE Project, is just one more "family" that we can feel a part of. In December, I received a bracelet as part of the 7000 Bracelets for Hope project. Although I have never met the jewelry designer, Eileen has made me feel such hope that there are others just like her in the world who will make Peyton's path easier.

Thank you!

Tracy Smith
Utah

It's Been Forever!!!

2012-02-07T21:28:00.000-06:00

So sorry I haven't posted anything in the past couple of month my computer has not been working. Many of you have been asking how Tylor is so I will try to update as well as I can.

Tylor is now NPC 60!!! He was officially the 60th kid with NPC to be seen and samples taken from for research at NIH.

Tylor's trip to NIH went very well. He traveled on the plane better than I thought he would. Jill brought here iPod Shuffle and Tylor really liked listening to them while he was people watching in the airport. Tylor only had to stay in the hospital for one night but we were able to have the room to chill in while waiting for his other appointments through out the week. It was much more relaxing for all of us to have a private place to sit instead of a waiting room. And we did a lot of waiting but hey it's not like we had anything else to do. We decided not to leave the NIH campus because going through security is as bad as the airport. But we found plenty for Tylor to do while we were there. He got to meet the Children's Inn service dog (and for the life of my I can't remember her name), went to the arts and crafts room, watched a movie on the big screen and ate popcorn, and there was even a Christmas party for all the pediatric patients. Tylor got to see Santa and make a gingerbread man there. They also had a huge display of gingerbread houses made by different departments at NIH. Tylor really liked looking at all of them...they were all amazing!! We got plenty of ideas for our gingerbread house next year.....

Well now onto the boring but important stuff. Tylor did very well with the sedation this time around. He was not sick after and was able to eat and drink just a few hours after he got out of recovery. They did find some atrophy in the brain, which is common with NPC as well as some high frequency hearing loss. He was such a trooper when he had his hearing test. The test was over two hours long and they still didn't get everything they wanted but Tylor had enough at that point. The morning after his sedation we had an appointment with the speech therapist but before we left for the hospital Tylor had 16 seizures and we pretty wiped out. The speech therapist tried to do some things with him but asked if we could come back the next day to see if she could get a better assessment of him. He did much better the next day and she commented on how much his truly understands. She was actually very surprised and happy about this. She was happy to hear that he has a Dynzvox to help with communication. Our last appointment was with the Peds neurologist. We talked about the medication his is on and a little bit of his health history. She then did some eye movement exercises with him, checked his reflexes and told us that she thought he was doing pretty good considering he had NPC.

After all the tests were completed we had a follow up meeting with Dr. Porter and Nicole. We went into great detail about Tylor's health history, the years of meeting with doctors while trying to get a diagnosis, previous tests he has had done and how things are going now. They gave us a patient copy of all the tests performed there. They still had some questions about past health history that I couldn't answer so I sent them the information when we got home to make sure his file is complete as possible.

He will have a follow up appointment in a year...

Before we left for NIH we did some holiday baking. Well not really baking because I can't and Tylor doesn't like to eat hard cookies. Jill, Liv, Kate, and Janelle came over to make chocolate dipped marshmallows and a gingerbread house. The girls really enjoyed helping their big brother! Thanks girls you are best sisters!!

The holiday was very nice this year....we were really busy but it was full of spending time with family and making great memories. Tylor got to spend both Christmas Eve and Christmas with both my family and his family. It was very nice that it worked out so well and that way both families get as much time possible with him.

January 16th Ty had his 6 month check up at Mayo. Just like the appointment at NIH, things went very well. Some change is meds but other than that they told us to keep doing what we are doing!! Again Dr. Patterson is amazed with how well his is doing!!! This makes me feel so good. There is not one day that I forget Ty had NPC but to hear his doctor talk about how well he is doing it puts some of the sad thoughts in the back of my mind.

Tylor also had his Special Olympics Basketball tournament last weekend. He was so alert and having a blast. He made a couple of good passing to different teammates who then scored. He was excited to see Ryan, Jill, Liv, Kate, Will, Drew, Rachael and her daughter, Teri and Touy came down to watch. His team took 2nd PLACE!!!

Well I think that is pretty much it!!! I am sure I will remember something else so you may see more posts with updates over the last couple of months.

Pictures will be added later.

Another NIH Update

2011-12-07T14:50:00.000-06:00

Tylor had a bit of a rough morning. He had 14 seizures this morning because his appointments so the swallow study was a little hard as well as the speech appointment. So we will be going back tomorrow to redo those and see a neurologist. We also had our wrap up meeting with Dr. Porter and Nicole which went well. We will have to come back in a year for a follow up. Please pray that the seizure calm down so we can have a good trip home!

NIH Update

2011-12-05T20:28:00.000-06:00

My computer has been down so I haven't really been able to keep everyone up on what is going on with Tylor.

Here is a little update about what has been going on at the NIH.

Tylor is fast asleep with Jill at the hospital...only one of could stay so we filpped a coin....Jill won so that means a night out on the town for me! Just kidding the NIH campus is locked down tighter that Fort Knox!! The security is crazy to get on campus. It's like the airport. But anyway Tylor is great today. He had a two hour hearing test which he was very good and then medical history with Dr. Porter and Nicole for a few hours. Tomorrow....Spinal tap, MRI, skin biopsy, and more hearing tests. They want to do more hearing because Tylor is losing some of his high frequency hearing which is normal for NPC. That's all for now...will update tomorrow.

NPC claims the life of a special boy

2011-11-05T11:41:00.001-05:00

In Loving Memory of Gavin Lopez

Gavin, Johnathan, Dillion, and Tylor

I had the opportunity to meet Gavin and his family in Virginia at the Niemann Pick family conference. They are a wonderful family and Gavin was such a sweet little boy. I only wish I got to spend more time with this family. On October 30th Gavin lost his fight with NPC. Here are video clips from the Doctors taken just a few months ago.

Gavin and His Mothers Heartbreaking Story

How NPC affects the body

Exciting News

2011-11-05T11:15:00.001-05:00

Members of the NPC team....THANK YOU!

Dear families and friends of the NPC community,

There has been a large, collaborative effort to initiate a cyclodextrin clinical trial at the National Institutes of Health (NIH) to systematically evaluate the safety and efficacy of cyclodextrin therapy for the treatment of Niemann-Pick type C (NPC) disease. As many of you are aware, we met with the Food and Drug Administration (FDA) this past Tuesday, November 1, 2011, to discuss the development program for cyclodextrin

The exceptional work that has been done in NPC animal models has guided the design of a human clinical trial. Together with the Therapeutics for Rare and Neglected Diseases (TRND) group at the NIH, as well as several NPC researchers, Johnson & Johnson, and consultants from RRD International, LLC, we are working to submit an Investigational New Drug (IND) application to FDA.

The first step in submitting the IND application to FDA (the perquisite to an initial clinical trial in patients) was to request a pre-IND meeting with FDA to receive the Agency’s feedback on our development program before the IND application is officially submitted. On November 1 we met with the FDA review division staff to discuss the proposed development plan for cyclodextrin and needs for the IND application package. The meeting was positive and the Agency provided helpful feedback focusing on the drug safety and toxicology data. We will have an additional meeting with FDA to focus on the clinical trial design, and FDA is working with us to get that meeting scheduled before the end of the year.

We view this as a very positive step toward pursuing cyclodextrin as a potential treatment for NPC disease. We are planning a scientifically rigorous trial that will allow us to test cyclodextrin in our patients safely and in a way that will provide as much information as possible. While specific details of the trial will not be available until we have agreement from FDA and approval from the NIH ethics review board, we will share information with the NPC community as it is available.

We continue to work toward our goal of starting the trial next year and feel that with the recent FDA feedback, we are on track to do so.

Thank you for your continued support and encouragement as we work together to find a treatment for NPC disease. This fight would not be possible without all of you.

Sincerely,

The TRND Team

Where did the time go?

2011-11-05T11:10:00.000-05:00

Hello Everyone,

I haven't posted an update on Tylor in a while and I finally found some time to get on the computer to do it. Well it has been busy around here for starters I started a new job at Edwards Cast Stone Company as a part time Drafter so we have been trying to get things down around the house. Tylor had his Special Olympics Bowling tournament a few weeks ago, he got third place. His first game he got three strikes in a row....and there were no bumpers up! I can't even do that with the bumper up! He starts practicing for his Special Olympics swim meet on Monday at school. Every Monday they get to spend an hour in the pool, lucky guy! School has been going well. He loves to make people laugh and hang with his friends. He has a new friend, Brandon. Brandon is in the Life Skills program with Tylor and he loves to help Tylor. I picked Tylor up the other day for therapy and as I was loading Tylor Brandon yelled wait and he kissed his head! Tylor keeps touching the lives of others where every he goes. He is also working on using the DynaVox during school to help communicate with the teachers and his classmates. The DynaVox is a communication device that is setup to Tylor's needs.

We also have been working closely with Notre Dame and have been sharing Tylor's medical records, pictures, and videos. They are working on rare and neglected diseases and NPC is at the top of the list! After reading through all the records they will compile all the information into a 2 to 3 page medical summary. They are also working on putting together a website for doctors who are struggling with diagnosing a patient. We have been in touch on a weekly basis and through email. They are almost done with Tylor's summary.

Tylor, Jill, and I will be traveling to NIH December 4th through December 9th. Tylor will be part of a Clinical Investigation. This is not to provide treatment for NPC but rather to evaluate a series of clinical and laboratory tests that might be useful in a subsequent study to determine if an investigational drug is effective in slowing the progression of NPC. Unfortunately for Tylor he will have all prior tests done again. Here are some of the tests that will be done; Blood draws, urine collections, lumbar puncture, MRI, psychological testing, hearing evaluation, skin biopsy, and genetic analysis are some of them. He will be sedated for the MRI, lumbar puncture and the skin biopsy so he won't be in pain. He just gets really sick after sedation. We are looking forward to this trip and hope that some how Tylor's results can help aid in the research effects at NIH. We will be posting update throughout that week.

So as you have read we are busy around this house and it is only to get crazier with the Holidays quickly approaching.

A Blast from the Past

2011-11-05T10:40:00.000-05:00

Tylor's old para from Jefferson dropped off some pictures of Tylor and I have to share some of them. He looks so young! It's hard to believe my little boy is now a young man.

This is Joyce, the para who gave us the pictures

Sam, Tylor and Gabby then

Gabby, Tylor and Sam now.

Hope, Courage, and Strength

2011-10-11T11:17:00.001-05:00

WALK FOR WISHES

We want to Thank all our friends and family for your support for the 2nd Annual Walk for Wishes! 25 people came out to walk with the Walkin' 4 Tylor team and many more dontated so more wishes can be granted in Iowa!

The walked got started with a few words from the wish granters with the Make A Wish foundation, I talked about Tylor's wish to meet Brett Favre, we had a moment of silence for those who have passed, and a balloon release for HOPE.

It was a great day for a walk and the 2nd Annual Walk for Wishes rasied over $28,000! Thank you again for all the support.

Liv had to walk back with Big Brother Ty

Drew was tired....so Ty gave him a ride

Walkin' 4 Tylor 2011

What Matters Most-A book written by an NPC Mother.

2011-10-11T10:12:00.000-05:00

Book about the Life of Chuck Beckman (NPC)

to Benefit NNPDF's Programs of Research

Released just in time for October Niemann-Pick Disease Awareness Month, What Matters Most: Living with the Young Adult Onset of Niemann-Pick Disease Type C (NPC) is a new book by Rozetta Beckman about her family's journey through Niemann-Pick Disease.

NPC took the life of Rozetta's son, Chuck, at the age of 36. He was diagnosed with NPC as a young adult, after symptoms began to surface when he was about 18 years old.

Proceeds from the book will be donated to the NNPDF for research into NPC.

To see a preview of the book and to place an order, visit:
Hardcover edition Paperback (color) Paperback (bl & wh) Downloadable ebook

Niemann Pick Awareness Month

2011-10-01T11:55:00.000-05:00

Okay everyone today is the first day of Niemann Pick Awareness Month and I need your help!!! I need 11 people to donate $11 each! This is a challenge the foundation came up with. It is so simple and is a great way to raise alot of money!!

We received the news in July 2008 that Tylor has Niemann Pick Type C and every since we have been very active in the Niemann Pick community to help raise money for research. We have had great support from our family, friends and community and we Thank You for that from the bottom of our hearts.

I know there are always fundraisers going on and thounsands of groups to support but $11 isn't much and it will make a huge impact!! Please if you are interested in helping contact me at Rjenw97@aol.com or send your donation to 1825 Garfield Ave, Dubuque, IA 52001. Please make the checks out to NNPDF.

Thank you again for all the support and stay tunes this month I will be posting about other children affected by this horrible disease.

Coins for Comments

2011-10-01T11:17:00.001-05:00

Today marks the first day of National Niemann Pick Disease Awareness Month and Jill, Tylor's stepmom, has come up with a great way to donate some money to the foundation, Coins for Comments. They have a blog for him also and if you make comments through out the month of October money will be donated to NNPDF. Please check it out and make some comments....Tylor loves to hear what everyone has to say. Plus you will get to see what he is up to at his Dad's house and meet his sisters and brothers!!

Time with Ty

Thank you for your support and love!

DON'T FORGET!!

2011-09-28T21:10:00.000-05:00

2nd Annual Walk for Wishes

Come join the Walkin' 4 Tylor team at Murphy Park on Sunday, October 2nd from 8am to 12pm. Make A Wish of Iowa granted over 176 wishes in 2010 and unfortunately the list of children in need of a wish is growing.

Last year the Walkin' 4 Tylor team raised over $1100 and had over 40 people walk on our team! WOW...we even won an award for the largest walk team. Well we are set out to surpass lasts years numbers so we need your help. Please join our team at Walking for Wishes. There are instructions on how to join our team on the website.

Salisbury Students Perform, Give $1,000 to Race for Adam Foundation

2011-09-28T20:58:00.000-05:00

After garnering the most votes in an online video contest, Casey Creveling and Alan Mendez finally got to present their $1,000 prize on Saturday to the charity for whom it was always intended: the Race for Adam Foundation, which funds research of Niemann-Pick Type C, a rare genetic disease.

The pair, who attend Salisbury High School, were inspired by Salisbury Middle School teacher Sean Recke's son, Adam, who has the disease. They wrote an original song, "Tomorrow Afternoon," for a video they entered in a contest to help charities, 1G for Good, sponsored by First Generation, a marketing firm in Allentown. The video received 136,820 votes and can be viewed at 1gforgood.com

On Saturday, they were joined by their bandmates in Identity Crisis, Tommy Walters and Danny Syvret, also Salisbury High School students, to present the check and perform for the Reckes at Cruise for Adam fundraiser at the Lucky Strokes Mini Golf Course in Bath.

Race'em & Wreck'em----Tilt 4 Tylor

2011-09-18T11:23:00.000-05:00

Race'em & Wreck'em at Farley Speedway is September 25th starting at 1pm. We have some friends that will be in the camper races who are honoring Tylor. They will be getting businesses to sponsor their team for the entry fee and to donate money to the NNPDF. Their team name is TILT 4 TYLOR!

We would love to see our family and friends out there. So if you have next Sunday afternoon free head out to Farley Speedway to watch a crazy eight race, demo derby, and the camper races. If you have never seen these races before you don't know what you are missing it is an awesome time!

Tilt 4 Tylor

15 ALREADY!!!!

2011-09-17T11:46:00.000-05:00

September 11th was Tylor's 15th Birthday! We had a blast...Tylor was battling a cold but he still had a great time with his family and friends.

We went camping at Big H for the weekend. Saturday everyone came up for a little party. We had a pinata for the kids which took quite a beating this year. I think next year I will get two, one for the big kids and one for the little kids. We had cake, sang Happy Birthday, and opened presents.

The kids got the adults to play volleyball and Grandma Mulgrew played baseball with some of them. Thank you everyone for your Birthday wishes and cards!! It made for a great 15th Birthday.

Ty chillin' by the fire

Hollywood!!

Tylor and his little brother Drew

Sorry Ty it didn't survive

Little piggy

NNPDF Family Conference 2011

2011-09-17T11:17:00.000-05:00

This year the NNPDF Family Conference was held in Norfolk, VA at the end of July. Sy and I took Tylor along with Sy's Mom and Stepdad. We drove down, it took us about 18 hours. We arrive in Norfolk around 6:30am and I couldn't believe it the hotel had one room ready for us. So the five of us crashed for a few hours before hitting the sites.

Norfolk is beautiful! The view from our room was of the Naval ship yard and the Bay area. We did a little site seeing our first day there but it was also the start of the conference so we couldn't do a lot.

It was so nice to see the families we met in Seattle. We had over 225 people attend this years conference which makes it the biggest one to date!! There were a lot of new families so it was great to connect and bond with them. It is crazy how you can connect with someone you never met just because of this horrible disease. Also this year there were about 26 kids there....all I can say is WOW! I loved seeing all the kids interacting with one another. Our children are so precious.

Well I guess I should get on with what we learned at the conference.

On Friday we heard from Dr. Marie Vanier, she has been researching this disease for three decades, Dr. Dan Ory, Dr. Steve Walkley, and Dr. Fran Platt. This group of doctors gave an overview of NPC Disease research, Support of Accelerated Research (SOAR) updates, Updates on Miglustat and Cyclodextrin as therapeutics for NPC and combination therapy for NPC.

On Saturday we heard from Dr. Marc Patterson, Dr. Kasturi Halder, Dr. Dan Ory, and Dr. Denny Porter. This group talked about medical and clinical update. The topics included: NPC intro adn overview, assistance of undergrads in charaterizing clinical progression for NPC, biomarkers for NPC, development of the NIH Cyclodextrin clinical trial.

Through out the weekend we also did a lot of brainstorming on how to raise money for research for National Niemann Pick Awareness Month in October. We got to listen to the famous Humorist, Carol Ann Small, we learned about an iPad can help our children communicate with us better and of course we had a beautiful banquet dinner to end the conference.

Carol Ann Small

I talked with Dr. Kasturi Halder, she is the Director at the Center for Rare and Neglected Diseases at the University of Notre Dame, about sending Tylor's medical records for the students to review. She was glad to take my information becasue with so few cases they are always looking for new NPC families. I am in the process of gathering all the medical records, I am only waiting on one doctor to get back to me.

I also talked breifly with Dr. Denny Porter, from NIH, about getting Tylor down there for the the NPC Natural History Study. He told me he would be glad to see Tylor and to call Nicole, his assistance, to set up the appointment. Nicole and I talked shortly after we got back. She explained that they would be performing all the test Tylor has had over at the NIH. That means more EEGs, MRIs, another skin biopies and spinal tap, a lot of blood with be taking, eye and hearing exams, and much more. So at first I thought do I really want to put Ty through all this again??? This information they gather from Tylor may help in the future and who knows maybe we will find out how it is processing in him. So we deceided to go for it. So Jill, Ty's Stepmom, Tylor and I are leaving Decemeber 4th and will return on December 9th!! We will keep you posted on how this go down there.

Well know on the the fun stuff...

After the conference we toured around Norfolk. We went on the SS Wisconsin and we drove on the Chesapeake Bay Bridge/Tunnel. That was so cool and weird at the same time. We also visited Grandma Mulgrew's brother in Maryland. We spent a day in D.C. and also got a little bit of relaxation time in before we had to go home. Here are some pictures!!

Virginia Beach

The fishing pier in Virginia Beach

Ty on the SS Wisconsin

See how the bridge goes under the water

Sy and Ty at the Capitol

Tylor and I with the Wright brothers

Eating Crab on the beach

October Niemann Pick Awarness Challenge

2011-08-31T07:52:00.000-05:00

Walk for a Cure in Memory of Riley Corbitt 2010

This year for Niemann Pick Awareness Month we are challenging people to find 11 people to donate $11 each. This is such a simple way to raise a lot of money. I know we are a month away but I wanted to put a bug in every ones ear so you could start making your list of the 11 people you are going to ask. Also remember to challenge others to find 11 people to donate $11 each!!

Stay tuned for more details as they come along from the National Niemann Pick Disease Foundation.

2nd Annual Walk for Wishes

2011-08-31T07:43:00.000-05:00

Come join the Walkin' 4 Tylor team at Murphy Park on Sunday, October 2nd from 8am to 12pm. Make A Wish of Iowa granted over 176 wishes in 2010 and unfortunately the list of children in need of a wish is growing.

Last year the Walkin' 4 Tylor team raised over $1100 and had over 40 people walk on our team! WOW...we even won an award for the largest walk team. Well we are set out to surpass lasts years numbers so we need your help. Please join our team at Walking for Wishes. There are instructions on how to join our team on the website.

We will be looking for sponsors for our team again this year but instead of T-shirts we are going to be selling spots on Tylor's wheelchair. So if you have any businesses or families that would like to buy a spot please let me know.

Hope to see you there!!!

Rachel Taylor "Here for You Always"

2011-08-31T07:32:00.001-05:00

A video/slideshow montage of NNPDF families created in honor of those who love and support us. Many thanks to singer/songwriter Rachel Taylor for allowing us to use her song, and thanks to the families who responded to our request for photos! Special thanks to the NNPDF volunteers who so lovingly created this video. For more of Rachel's music, please visit www.racheltaylormusic.com. For more information about Niemann-Pick Disease visit http://www.nnpdf.org/

Friends from Camp

2011-08-18T20:13:00.000-05:00

Wednesday night we had some of the crew from Camp Albrecht Acres come over for dinner. Rich, Nicola, Katie, and Emily wanted to visit with Tylor a little more before heading to L.A. on Friday. They entertained Tylor while I was cooking the burgers....or maybe it was the other way around! Tylor was really into a movie that was making him laugh...so it was kinda entertainment for us as well!

Emily, Rich, Nicola, Katie and Tylor

After eating dinner we sat out side so the gang could meet Ty's new dog Josie, yes I said new dog (puppy I mean). I know most of you don't know about her so here she is....

Josie and Bono

While visiting Rich mentioned that the Sherill Fire Department would be at camp on Thursday spraying the kids with the hose and that I should bring Tylor out. So this morning we heading out there. Tylor fell asleep on the way out and didn't really wake up the whole time we were there until....they got him with the hose!!!

Tylor woke up fast

Rich and his camping buddy with Ty

Ty got to hold the hose after the water was gone

MUD SLIDE

Thanks for the fun today! We love all of you and will miss you dearly!

NIH Cyclodextrin Trial

2011-08-18T19:09:00.000-05:00

National Institues of Health Announces Cyclodextrin Clincial Trial For Fatal Cholesterol Disease Called Niemann Pick Type C

August 16, 2011 by Chris Hempel
Over the past three years, many Niemann Pick Type C families as well as physicians treating NPC patients worldwide have contacted Dr. Caroline Hastings and I regarding Addi and Cassi’s treatments with hydroxypropyl-beta-cyclodextrin.

Since sharing our intravenous (IV) and intrathecal (IT) cyclodextrin treatment protocols with NPC families and doctors in the U.S. and other countries, many NPC patients have started cyclodextrin therapy.

Currently, I know of 11 NPC patients in various countries receiving cyclodextrin treatments – six are receiving intrathecal (IT) treatments to allow cyclodextrin to reach the brain.

With many Niemann Pick Type C families scattered around the world, it’s difficult for people to obtain information on cyclodextrin and determine how they might be able to get started with treatments. In the past month alone, I have been contacted by families located in Italy, Spain, Germany, Dubai and Japan and all are interested in cyclodextrin treatments.

I am writing this blog in the hopes it can help NPC families in other countries who are seeking information on cyclodextrin and help them understand how they may be able to treat their loved ones with this potentially life saving sugar compound.

NIH Announces Intracerebroventricular Clinical Trial with Cyclodextrin
In the United States, the National Institutes of Health (NIH) has announced an intracerebroventricular (ICV) clinical trial with cyclodextrin. Dr. Forbes “Denny” Porter is running the clinical trial with an NIH Bench-to-Bedside Grant and with the help of the NIHs Therapeutics for Rare and Neglected Diseases (TRND) program and the National Center for Advancing Translational Sciences (NCATS).

Details are limited on what the inclusion/exclusion criteria will be for the NIH cyclodextrin clinical trial and they are still preparing their IND for the FDA and conducting pre-clinical studies.

The exciting news for NPC families is that the NIH has announced that they will pursue delivering cyclodextrin directly into the brains of patients using an Ommaya reservoir. An Ommaya reservoir is an intraventricular catheter system – a catheter is implanted into the brain and it is attached to a reservoir implanted under the scalp.

Dosing is still being determined by work done on NPC animal models, including the naturally occurring NPC cat model. I am sure dosing will be quite similar to what we are already giving to Addi and Cassi (possibly every two week cycle) as the FDA likes to base clinical trials from animal data. The NPC cats receive bi-monthly doses of cyclodextrin and Dr. Hastings based our initial bi-monthly IT treatment plan from the same cat studies.

Getting Cyclodextrin Into The Brain and Past Blood Brain Barrier
In my previous posts, I have detailed our plans with trying to get cyclodextrin into the twins’ brains. In October 2010, Dr. Hastings received FDA approval to start the twins on intrathecal injections of cyclodextrin into their spines. Since Addi and Cassi were the first in the world to ever receive this treatment, safety was a primary concern.

We initially started with intrathecal injections into the spine because we had to prove that the twins would not have an adverse reaction or die from an injection of cyclodextrin into their central nervous systems. Also, intrathecal treatment was less invasive. Per our FDA approved protocol, the twins must be hospitalized and monitored after intrathecal treatments. At first, they were monitored for 24 hours. Currently, we’re down to three hour observations following IT treatments.

Since October 2010, Addi and Cassi have received over 20 intrathecal injections of cyclodextrin into their spines as we work towards a permanent solution. The twins were going deaf before we initiated intrathecal cyclodextrin therapy. We have now restored their hearing to normal levels which is quite encouraging.

We also continue with our weekly IV infusions of cyclodextrin into their bloodstreams and are also looking for ways to deliver cyclodextrin into the lung as IV and IT treatments do not appear to reach the lung.

Medtronic SynchroMed Pump To Deliver Cyclodextrin
Over the past year, we have been creating an intrathecal protocol with the help of Medtronic and Johnson & Johnson and plan to implement a Medtronic SynchroMed pump system to deliver cyclodextrin into the brains of the twins. Medtronic is currently conducting final pump studies with cyclodextrin and we hope to re- submit data to the FDA and our hospital Institutional Review Board (IRB) in September.

We are working towards a SynchroMed pump solution because the NPC mice data shows that low continuous dosing is effective in completely stopping NPC. NPC mice are now being treated like diabetics. Cyclodextrin may need to be given on a frequent basis (perhaps daily or even weekly). We simply don’t know. We will start with a weekly bolus of cyclodextrin through the pump.

The Ommaya port does have many advantages, however, it does not offer frequency of dosing — it’s an access port versus an automatic system. In addition, it is my understanding that the Ommaya requires a patient to be in a hospital setting to receive a treatment (in the United States). SynchroMed pump refills can be made in an outpatient setting once the pump is installed and the pump lasts about seven years.

Choosing Between Ommaya and SynchroMed
The beauty of the Ommaya system is that you know for certain that cyclodextrin is reaching the brain. I believe the NIHs plan to pursue the Ommaya option is the right decision for the clinical trial and to determine efficacy. I hope many NPC patients will be eligible to participate in the clinical because I believe cyclodextrin could be life saving.

Since Addi and Cassi have been receiving cyclodextrin treatments for almost three years, they will not be eligible for the NIH trial. Many other NPC patients, especially those in foreign countries, will also not be able to participate in a U.S. clinical trial and therefore may want to pursue treatments in their individual countries.

Hugh and I continue to look at a longer term and permanent solution for cyclodextrin treatments as it appears cyclodextrin will be a life-long treatment. We are looking for a solution that provides flexibility on dosing and also keeps our kids out of a hospital setting as much as possible.

Medtronic’s data shows high catheter placement into the spine will allow cyclodextrin to reach brain and we will be taking this chance. We know that our intrathecal treatments in the lower spinal area are reaching the twins’ brains as we have restored the twins’ hearing to normal levels. But there are still lots of unknowns and many risks too. There is no easy decision and no right answer.

Also, I am not sure if an infant can get a SynchroMed pump placed so the only option may be an Ommaya. The NPC animal data shows that the sooner the animals start cyclodextrin treatment (BEFORE symptoms are evident) the healthier the animals stay.

Exciting Treatment Options
The good news for NPC patients and families worldwide is there are now promising treatment options to pursue which were not available before. Doctors can look at both Ommaya or SynchroMed solutions to get cyclodextrin into the brain and consider these options today for their patients.

I believe we’re ultimately going to need combination therapy to treat NPC as the disease impacts every cell in the body. We’ll need ICV or IT to reach the brain, IV to reach the organs and tissues and probably some type of inhalable HPBCD to reach the lung.

These are the options we are pursuing to try and save Addi and Cassi’s lives. We hope this information will help other families as they look for any possible way to save their loved ones from this wretched disease.

For more on Addi and Cassi go to their website.

No fair weather riders here!

2011-08-18T18:48:00.001-05:00

Rees, Tylor, and Rylee (good buds of Ty's)

Can't forget about Fat Head

The 2nd Annual Ryde 4 Tylor went on even threw the rain! We had about 30 bikes came and weather the storm with us. Shortly after Noon we saddled up and headed for Buenie, we went through some rain but we missed the down pour by 45 minutes. But look at the view....

At Hank's Ty got a tshirt and a koozie....what a stud (he loves being the center of attention).

Hang Ten!

Sy and Kirsten

Ty and his Dad

After the first stop we lost some bikes because the weather station was calling for rain all day but most continued on. And let me tell you God was watching over us....the rain came when we were at our stop and then let up for us to make it to the next. I let my friend, Kirsten, ride with Sy so I jumped on the bus. The bus got lost, even though I did the practice ride I wasn't much help! I never pay attention when I am not driving, duh! So the bus group missed the third stop and didn't know if we had enough time to make the forth stop but we went anyway. I am glad we did because this is what we pulled up to....

Our dear friends from Farley wanted to surprise me, to say the least they did! It brought tears to my eyes!! Thanks again to the gang in Farley, you guys are the best!

Ty's Crew

Even through the rain we were able to spread the word about NPC and raise some money! Thank you to all you helped make the day a success, to all the riders, bar owners, and people we meet along the way! It is becasue of you our researchers can keep fighting for a CURE!!

Love You Buddy!

VROOM VROOM...ARE YOU READY TO RIDE?

2011-08-12T08:36:00.001-05:00

2ND ANNUAL RYDE 4 TYLOR IS SATURDAY,
AUGUST 13TH.

Ride will be leaving Knicker's at Noon sharp. Sign up starts at 10:30am. $10 donation per rider.

We did the practice run last week and the ride is awesome!! Here are the stops....

Hank's in Buenie (they will have Brats)

The Damn Bar in Guttenberg

The Detour in Petersberg

Dirty Ernie's in Farley

Back to Knickers for food and music!!

Last years Ryde 4 Tylor was awesome so if you are free this Saturday come out and ride for a great cause. All donations with go towards finding a cure for Niemann Pick Type C. Even if you don't have a bike bring your car!!

July 14th-Mayo check up

2011-08-12T08:21:00.000-05:00

Tylor's last check up was very uneventful, but we like them that way!

Lisa said his height and weight are good. He weighs 123lbs and is a whopping 5'-11"! His tube feedings are going well and he continues to eat orally. After a little more discussion about his eating habits she suggested we keep everything the same unless something were to change.

The G-tube specialist looked at the site before changing the tube, she commented on how good the site looks. There is no skin break down, no scar tissue, and no leakage. The tract has moved due to Tylor's growth but she didn't have any concerns to warrant a GI investigation. So she changed the tube and sent us on our way.

Dr. Patterson continues to be impressed that Ty is remaining stable. His seizures are under control, he is down to about 15 per month were before he would have anywhere from 35 to 45 per month. He was very alert during the exam....smiling and laughing when appropriate. The doctor contributed Ty's stability to the care we provide and the reduced seizure activity. So unless something changes we will see them again in six months.

EVERYONE WANTS TO LIVE IN HOLLYWOOD!

2011-08-03T20:55:00.001-05:00

I had to share these pictures with everyone. I think they are so cute and yes Tylor actually fell asleep in the pool...how funny is that!!

Mr. Hollywood himself

Ty's summer in a nutshell

2011-08-03T20:32:00.001-05:00

Crackle pop, crackle pop pop, buzz, buzz, splash, cluck, cluck....uh the sounds of CAMP! Tylor went to Camp Albrecht Acres again this summer...his favorite part of summer break.

His time at camp was full of swimming, fishing, arts & crafts, movies, campfires, smores, dancing, an awards ceremony (Ty won #1 camper and the biggest cheese head award), oh and did I mention smores....

Rich was his counselor for the week he was there (Rich was there last year too). Tylor and Rich really hit if off. Rich is so good to Tylor and when you see them together Ty always has a HUGE smile on his face. He also got to spend a lot of time with Jason, his friend from last year. Jason is also a die hard Cubs fan.

Tylor and Rich

Tylor and Jason

It's hard to believe that camp is over. It makes me sad to have to say goodbye to Rich. He is a special person and I am glad he is a part of Tylor's life.

Thank you to the staff and counselors for making the 2011 camp season a wonderful experience not only for Tylor but for all the campers.

Tylor is ready for next year and believe or not there are only 331 more day until the 2012 camp season!! See you next year!

Walk 4 Wishes

2011-08-03T19:47:00.000-05:00

Grab your tennis shoes, comfy pants, the stroller for the kids, the dog and join us on October 2nd at Murphy Park for the 2nd Annual WALK 4 WISHES from 8:30am to 10:30am.

All donations will help grant wishes to kids with life threatening illnesses in Iowa. Make a Wish of Iowa grants an average of 200 wishes a year. So we need your help to keep granting more wishes for children like Tylor.

Tylor was granted his wish in 2008! Make A Wish flew him to New York to meet Brett Favre. This is a memory no one can ever take from our family. So we as a family are challenging you to come walk with us and if you can't walk with us please donate. Every little bit helps...you can either contact Make A Wish or myself to make a donation.

Thank you for your support!!

Bruiser Game Cancelled

2011-07-22T21:53:00.000-05:00

I am sorry to let everyone know at the last minute but the Bruiser game scheduled for tomorrow night to honor Tylor is cancelled. The other team cancelled for some reason. Please pass on this infomation.

Thank you for you help spreading the word and your support.

More news on Cyclodextrin

2011-06-28T16:11:00.001-05:00

Results in Mice May Help Shape Clinical Trial for Children With Rare Fatal Disease

By Amy Dockser Marcus

It’s a well-known maxim in science that curing a disease in a rodent doesn’t guarantee the same results in a human being. But new research on using the drug cyclodextrin in mice is likely to help shape a clinical trial being planned for children with a rare and fatal genetic disease.

Scientists led by John M. Dietschy at the University of Texas Southwestern Medical School just published a paper in the Journal of Neuroscience on continuous cyclodextrin treatment for Niemann-Pick Type C, a fatal neurodegenerative condition in which cholesterol builds up in tissues and organs. The treatment not only kept mice alive but prevented the cognitive decline that is one of the hallmarks of the illness.

When delivered directly into each rodent’s central nervous system via the spinal column in order to better reach the brain, cyclodextrin “completely prevented the expected neurodegeneration,’’ the authors wrote.

The paper’s publication is especially propitious because the NIH announced earlier this year that it plans to start a clinical trial treating NPC patients with cyclodextrin, hopefully some time in 2012. One of the key issues still being discussed is whether to deliver the drug directly into the central nervous system (as was done with the mice in the paper) or through an infusion into a vein that carries the drug into the general circulatory system.

The new paper will fuel and shape that ongoing debate. It found that delivering cyclodextrin directly to the brain requires lower doses and appears to be more effective in reversing the cholesterol defect than infusions into a vein.

“It will be a very influential paper in the field,” scientist Daniel Ory tells the Health Blog. Ory ought to know: he is the principal investigator on an NIH grant focused on getting cyclodextrin from the lab into NPC patients. He’s also working closely with NIH’s Therapeutics for Rare and Neglected Diseases program, which selected NPC and cyclodextrin as one of its pilot projects to attempt to repurpose drugs for use in rare diseases.

Dietschy, who has published a number of previous papers on cyclodextrin and NPC, acknowledged that continuous, life-long administration of the drug into the central nervous system using a pump isn’t easy — even in a mouse. In children, surgery is required to install, remove, and replace pumps, and the devices can become infected. Still, Dietschy says, if more data and studies back up the findings, he believes the technical obstacles can be overcome by surgeons.

Rumors about the paper’s findings were already creating a buzz among some in the NPC patient advocacy community even before it was published. In May, the National Niemann-Pick Disease Foundation, an advocacy group, sponsored a teleconference with Ory and NIH clinician Denny Porter to discuss the planned cyclodextrin trial.

In response to a question by a parent asking about the possibility of doing a trial using the delivery method described in the Dietschy paper, Porter said that there would be additional regulatory hurdles involved since it is a “huge jump in risk or risk-benefit ratio” to think about delivering the drug directly to the brain rather than through a vein.

Ory tells the Health Blog that investigators want the most efficient delivery method, but also one that can be rapidly moved into the clinic. He says the risks of injections into the spinal column, could potentially slow down the opening of a trial. Still, he agreed that the paper’s findings will inform the discussion.

One human experiment is already underway in twin girls with NPC, who have been receiving cyclodextrin infusions under the FDA’s compassionate use program.

Chris Hempel, the mother of the girls, Addison and Cassidy, tells the Health Blog they will submit a protocol for hospital approval to install a pump in each girl’s spine that will start delivering continuous cyclodextrin infusions to the brain.

Hempel says she closely follows Dietschy’s research, reading each paper. “As more research comes out, we can modify’’ the approach,” she says.

Dietschy says it’s too early to tell how or if the new results will be applied to patients. In the meantime, he says he plans to observe a colony of mice receiving continuous infusions to see how they progress. Researchers are still working on the technical issues but Dietschy says he can’t help but wonder: Will mice treated this way go on to live a normal life? And if so, could children?

Photo: Associated Press
**Taken from the Wall Street Journal Health Blog**

Rare-disease studies seek online giving

2011-06-28T16:03:00.001-05:00

Website invites micro-donations for unusual illnesses.
Amber Dance

Those wanting to raise awareness about a rare disease will be able to take advantage of an initiative being launched later this year: a website that connects research projects with members of the public who can donate just a few dollars to help to develop cures.

The plan, called the Global Genes Fund, will "democratize the research proposal game", says Irwin Feller, an emeritus professor of the economics of science and technology at Pennsylvania State University in University Park.

The idea has been developed by the Children's Rare Disease Network, a non-profit organization based in Dana Point, California. The network plans to set up a test site by the end of 2011, with a formal launch in 2012. Potential funders will be able to choose from projects with funding goals of US$10,000-150,000. The fund will post proposals that are deemed by its committee to be likely to succeed within three to five years — that is, within the often-short lifetimes of people currently affected by the diseases.

Rare, or 'orphan', diseases are defined as those that afflict five or fewer people out of every 10,000 in the European Union or fewer than 200,000 Americans. The diseases are devastating but overlooked. Pharmaceutical companies are naturally interested in blockbuster drugs that will be taken by many people, whereas governments are often perceived as focusing their limited resources on more common conditions.

There is some funding: for example, in 2009 the National Institutes of Health announced US$24 million for the Therapies for Rare and Neglected Diseases programme to developing medicines for orphan diseases. But there is simply not enough money to support research on all rare diseases. There are some 7,000 orphan diseases affecting an estimated 350 million people worldwide. Of those, 75% are children, says Nicole Boice, founder and chief executive of the Children's Rare Disease Network. Parents often shoulder the burden of advocacy, running cake sales and other fund-raising events to support research.

Many hands
With the Global Genes Fund, Boice hopes to raise money and awareness to a level that is impossible for individual parents and scientists. She was inspired by the success of microloan website Kiva.org. On Kiva, users browse a list of individuals worldwide who need a small loan to pay for business expenses, home improvements or other projects. Through loans of as little as $25, Kiva has raised $22 million since it was founded in 2005.

The Global Genes Fund will solicit money for defined short-term projects, Boice says. For example, it might support whole-genome sequencing for a child with an undiagnosed disorder. Or it might pay for children with a rare condition to travel to a trial centre.

The fund will also seek corporate sponsorship. Those larger gifts will help to cover projects that don't receive sufficient micro-donations, Boice says.

"It's not just the funds, it's the awareness" that the fund will raise, says Audrey Gordon, president and executive director of the Progeria Research Foundation, based in Peabody, Massachusetts. The foundation is a non-profit organization that promotes the study of progeria, which causes rapid ageing. The global nature of the new fund means that more families affected by rare diseases will find others dealing with the same problems, advocates say.

"There's a serious lack of funding for these various rare diseases," says Chris Hempel, a Reno, Nevada-based advocate and mother of twin girls who have Niemann–Pick type C disease also referred to as 'childhood Alzheimer's'. "We're all in the same boat and no one's getting drugs."

Regarding the fund, "I think it's an extremely interesting project", says Steve Groft, director of the NIH's office of rare disease research. "It will meet the needs of some of the rare-disease-community members." Even a tiny $50,000 pilot trial could give researchers enough data to apply for more funding, he adds.

**Taken from Nature News**

Dad raises £100k for son's life saving drug

2011-06-09T18:58:00.001-05:00

Jun 9 2011 By Lucy Cork, Buckinghamshire Advertiser

AN 'EXHAUSTED' super dad has finished a 925-mile cycle ride from Land's End to John O'Groats, raising a huge £100,000 for a drug that could save his son's life.

David French, of Ledborough Lane, Beaconsfield, set off on Friday, May 27, with supportive team-mates, after months of training and fundraising. It has been his way of giving his family 'hope' for the future.

Mr French's son William, nine, was diagnosed with Niemann-Pick Disease, Type C (NPC), a crippling and very rare degenerative disease also known as childhood Alzheimer's, when he was six months old. Only 80 people in the UK are known to have the disease.

The money raised through this cycle challenge will go directly to applying for a UK trial of a life-saving drug that is currently only available in America.

Mr French said: "This is what my wife Sue and I are now turning our attention to.

"It has been quite a trip and we never dreamed of raising £100,000. Now we have more work to do for William."

William's condition means that he cannot deal with the everyday challenges of life. He needs help getting dressed, eating meals and almost anything involving motor skills.

A determined Mr French cycled for 10 days, which included a multi-bike pile-up on day eight, resulting in a somersaulting rider, 24 hours of constant rain and three broken wheels. The hard work came to an end at 3.33pm on Sunday, June 5.

The intrepid team, including Jeff Corrigan, Graham Rogers and Jeremy Tipper, were joined by William for the final few miles, who rode alongside in a pull-along bike.

Mr French said: "It was such a great feeling to finish by seeing about 30 friends and family cheering and clapping. The support we have received has been incredible. It is a fantastic feeling.

"Nine years on and the NPC world has seen a huge investment of research funds, particularly in the US and that is beginning to pay dividends.

"We very much believe in his future and are determined to do all we can to make that a reality."

Researchers compare notes on deadly nerve disease

2011-06-09T18:52:00.001-05:00

Researchers from all over the world are meeting on Notre Dame's campus this week. The group is discussing developments in the research of Niemann-Pick Type C disease.

NPC is a genetic disorder that causes your nervous system to deteriorate, which eventually affects your ability to move, speak, and process information. FOX28 News sat down with some of those scientists to discuss the research they're doing and the progress they've made so far.

Biology Professor Kevin Vaughan says developing a counter to the disease begins with identifying what causes it in the first place. "Without knowing what the problem is, it's hard to design drugs specifically to overcome the problem," explains Vaughan.

Norb Wiech with pharmaceutical company Lysomics says they are in the preliminary stages with the FDA of testing a drug that may slow the deterioration process. "All these ideas can't come to be meaningful unless get the information or use the information to develop a drug to treat them," says Wiech.

Notre Dame is involved with this research through former coach Ara Parseghian, who lost three of his grandchildren to Niemann-Pick Type C. His family established the Parseghian Medical Research Foundation in 1994 in hopes of finding a cure for the fatal disease.

On Monday Notre Dame Dean Greg Crawford will start a 2200 bike ride from Boston to Dallas to spread awareness. We'll have more from them Friday night at 10.

Road to Discovery

2011-06-09T18:49:00.001-05:00

June 06, 2011
By South Bend Tribune Staff Report

SOUTH BEND -- University of Notre Dame science dean Gregory Crawford and his wife, Renate, will embark on a second cross-country bicycle ride to raise money for medical research.

The Crawfords will use the ride to support research seeking treatments and a cure for Niemann-Pick Type C (NPC), a rare and deadly neurodegenerative disease that primarily strikes children.

The couple will depart Monday on "Road to Discovery," a 2,200-mile ride from Boston to Dallas.

The Crawfords last summer biked 2,300 miles from Tucson, Ariz., to Notre Dame to celebrate Notre Dame's strengthened partnership with the Ara Parseghian Medical Research Foundation, a nonprofit organization dedicated to funding medical research projects to find a treatment for NPC and related disorders. Notre Dame's former head football coach Ara Parseghian lost three grandchildren to NPC.

http://www.southbendtribune.com/

First Camping Trip of 2011

2011-06-04T11:13:00.001-05:00

Tylor went on his first camping trip of the year on Memorial Day weekend. We had a blast! He met a lot of new friends, did arts and crafts, rode is bike, and sat by the fire. We had to stay in the camper Sunday morning because of the rain but after that we took Ty out in his wheelchair for some mud boggin'. And boy did his wheelchair get dirty...oh well it just goes to show we can fun in the sunshine or rain!!

Blake and his bull frog he found.

Tylor didn't care much for the frog

The kids painting

Taking a nap

I asked Tylor if he wanted to get in the mud too but he said NO WAY

Ty crashed Saturday night

Tylor and Bono relaxing while we packed up to leave

Great Job Tylor

2011-06-04T10:54:00.000-05:00

Tylor had a dentist appointment a few weeks ago and he did so good. Most of you are probably saying come on everything Tylor's been through the dentist should be a piece of cake.....that's not the case. He hates getting his teeth cleaned and them looking around in his mouth. He has a very sensitive gag reflex so going to the dentist is not much fun except for this time. This time we left him in his wheelchair and just reclined it back. He did great and he was pretty relaxed. Plus no cavities!!!

Ducks afloat for NPC

2011-06-03T21:54:00.001-05:00

TURLEY — Ducks for Bucks is a non-profit organization created in memory of Breann Chavez who passed away at the age of 3 from Niemann-Pick Disease. Families faced with NPD are faced with a small window of time with their sick child.

Ducks for Bucks was created to help alleviate some of the financial burden these families face so they can focus on enjoying the few years they have with their child. Ducks for Bucks 2011 will take place at Wines of the San Juan, from noon to 5 p.m. on Saturday.

This is a family fun day filled with live music, games, raffles, silent auction, food, wine tasting and entertainment for kids of all ages, along with the annual Dainty Duck Dash, a rubber duck race with chances to win cash prizes.

Niemann-Pick Disease is a term for a group of diseases which affect the metabolism and which are caused by specific genetic mutations. NPC is a genetic disease in which the body does not break down cholesterol and instead stores it inside major organs - like liver, spleen and brain. This storage leads to many complications both physically and neurologically and begins to deteriorate the bodies of the young victims it attacks.

The three most commonly recognized forms of the disease are Types A, B, and C. The National Institutes of Health has referred to NP-C as “childhood Alzheimer’s” because of the neurological similarities between the two diseases.

At this point, there is no cure for NPD. All cases are fatal, which makes time incredibly valuable to these families.

For most families facing Type C, neurological symptoms begin appearing between the ages of 4 and 10, with children appearing completely normal until this point. Generally, the later neurological symptoms begin, the slower the progression of the disease.

Once the neurological breakdown begins the body follows. These children lose all mobility; they lose their ability to speak, play, and even eat, leaving many of them to get their nourishment from a feeding tube.

Many suffer with seizures, and other pains they cannot express, leaving caregivers constantly guessing. The vast majority of children die before the age 20 and many die before the age of 10.

NPD is a genetic disease in which both parents must be carriers for their child to become affected with the disease. Each child has a one in four chance of having NPD.

Due to the late onset of the disease, many parents do not realize they are taking this risk until it is too late, resulting in many families with multiple children dying from NPD.

Ducks for Bucks is recognized by the IRS as a public charities non-profit and does have a 501(c)(3). All money raised goes directly to helping families with whatever their greatest need is at the time.

For some that means medical bills, co-pays, and equipment. For others it is just unexpected daily living expenses due to their child’s illness. Those not abe to attend the race in person may purchase a rubber duck for $5 online.

Although you will not physically receive your duck, it will be entered in the Dainty Duck Dash for a chance to win $1000 cash for the first place duck.

$500 will be awarded for second place and $250 for third. Winners do not need to be present to win.

Visit the website to start your duck in training today for the big race.

For more information, call (505) 632-7649 or go to http://www.ducksforbucks.org/

**Taken from the Farmington, New Mexico Daily Times**

Adam Recke to be featured on the Kathie Lee and Hoda program

2011-05-03T21:52:00.000-05:00

Adam Recke (NPC) will be featured on the Kathie Lee and Hoda program on Thursday, May 5, during the 10:00 hour. Adam is the 12-year-old son of Sean and Amy Recke of Pennsylvania. Tune in to NBC to see Adam on the "Everyone Has a Story" segment.

DART Gala set for May 20th~Funding NPC Research

2011-05-03T21:12:00.001-05:00

The Marella family created Dana's Angels Research Trust after two of their children were diagnosed with
Niemann Pick Type C

Greenwich residents Phil and Andrea Marella are fighting to find a cure for a rare genetic disease that afflicts two of their children. “We were shocked when we found out,” Andrea said of her children's diagnosis. “But we’ve seen great benefits from the research we’ve been able to fund. … We’re parents working to raise money for research, looking to save our own children. We want everything possible done.”

Dana and Andrew Marella have been diagnosed with Niemann-Pick Type C disease, often referred to as “children’s Alzheimer’s.” The family formed its own organization, Dana’s Angels Research Trust, to fight the disease. It causes progressive deterioration of the nervous system because of an interference in the body's ability to metabolize cholesterol. It leads to neurological problems that impact the ability to walk, talk and swallow. Typically children diagnosed with the disease rarely live past their early teens. Only 200 cases of Niemann-Pick Type C have been diagnosed in this country, two of whom are the Marella children.

Dana, a 17-year-old senior at Greenwich High School, was diagnosed at age 8. She could not receive a drug trial medication, known as Zavesca, until she was older. She now uses a wheelchair, can no longer speak and requires breathing treatments. Her brother Andrew, an 11-year-old at Central Middle School, was diagnosed at age 5 and started treatment at a younger age. Both children are already beating the odds.

“When [Dana] was diagnosed, we watched the steady deterioration. She began leaning on walls, then it was needing a walker and now she’s in a wheelchair,” said Andrea. “Andrew is a little miracle. We do attribute that to medications he was able to start earlier. There isn’t total approval of the medication yet, but we’re working with the drug companies on it.”

Dana's Angels Research Trust funds medical research, medical education and medical treatment to find a cure. “Whenever you have this situation with a rare disease, fundraising is family foundation oriented, so you don’t have larger organizations to rely on,” said Phil. “We’ve luckily been able to use 95 percent of what’s raised.” The foundation has collected more than $2 million since it started to fund research at five labs around the country.

The Marellas have not given up. “We have faith that our two kids will be fine,” said Andrea.

On May 20, the trust will hold its Annual Gala Benefit and Concert at the Palace Theatre in Stamford, featuring ‘60s singing group Frankie Valli and the Four Seasons. The 1960s rock-and-roll-themed event will be hosted by Kathie Lee and Frank Gifford. The Marellas said they have also recruited Regis and Joy Philbin for the silent auction. New York City’s famous Rao’s Italian restaurant will provide a pasta bar from 6 to 6:45 p.m.

Concert tickets are $45, $75 and $125 and are available online or at the theater box office. Gala tickets start at $300 and include the reception before the concert. Gala tickets are available on Dana’s Angels website.

Race for Adam~Raising money for NPC Research

2011-05-03T20:57:00.001-05:00

With his wavy blond hair, big blue eyes and healthy glow, 12-year-old Adam Recke appears to be the picture of health. He loves to play sports and listen to music.

But Adam has Niemann-Pick Type C, a rare and fatal neural degenerative disease most people have never heard of and for which there is no cure--- yet.

“It’s more than a rare disease, it’s an ultra rare disease,” said Adam's father, Sean, a technology teacher at Salisbury Middle School.

“To be considered a rare disease in the United States, the disease has to affect less than 200,000 people. Niemann-Pick affects less than 200 people in the U.S. and it only affects five families in Pennsylvania,” Recke said.

People with Niemann-Pick Type C are unable to metabolize cholesterol and other lipids properly within their cells. As a result, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. Most children with the disease die before age 20.

When Recke's colleagues at Salisbury Middle School learned of his son's devastating disease, it spurred them to action.

In 2005, Matt Tobias, a social studies teacher at Salisbury Middle School, created the Race for Adam Foundation to help raise money to find a cure for Niemann-Pick Type C. On Saturday, May 7, the organization will hold the sixth annual Race for a Cure 5K run/walk at Lehigh Parkway in Allentown. The event will feature live music, food and raffles. Participants in the race will get a T-shirt that says "I believe," designed by Michelle Dang, a ninth-grader at Salisbury Middle School.

Scott Marshal, an instructional aide at Salisbury Middle School who is also a singer/songwriter, was inspired by Adam and wrote and recorded a song about him, titled “With Every New Day (I believe).”

“Adam is a really special kid—full of life, full of love, full of all the good things and all the wonderful things that make being a kid great,” Marshall said, tears brimming in his eyes.

While recording his album, Marshall mentioned the song to the producer. Management then told Marshall they wanted to release song. The song is available for 99 cents on iTunes and all proceeds benefit the Race for Adam Foundation.

“We really hope to raise awareness. If enough people buy it, it’ll chart on the Billboard charts. This could open doors for national exposure to Adam’s story.” Marshall said.

“It’s all about finding a cure,” he said.

Salisbury Middle School has rallied behind the Reckes, organizing various fundraisers over the years, often in the spirit of fun, with outrageous contests, such as the time some teachers slept outside and others shaved their heads. The school has posted numerous collection jars. In addition to the "I believe" T-shirt, they also sell two one that says “persevere” to raise money to find a cure for Niemann-Pick Type C.

It has not been an easy journey for Sean and his wife, Amy, and their two other children, Josh, 16, and Katie, 14, who live in Bethlehem Township. It took six years for Adam to be diagnosed, even though Sean and Amy knew right away that he was ill.

Adam was jaundiced when he was born, but doctors told the Reckes it was nothing to worry about and to expose Adam to sunlight. After taking Adam to the hospital the fourth time, the doctor finally drew blood. When the results came back, the Reckes were told to take Adam immediately to St. Christopher’s Hospital for Children in Philadelphia.

“His liver was so out of whack he almost died," said Sean Recke. "They didn’t tell us until after we left.”

At that time, Adam was misdiagnosed with neonatal hepatitis. From there, the Reckes kept taking Adam from hospital to hospital looking for answers. Finally, when Adam was 6, doctors performed a skin biopsy and confirmed the diagnosis of Niemann-Pick Type C.

With a mix of anger and sadness on his face, Recke recalled the day he and his wife were given the diagnosis. The doctor, with no bedside manner, told the couple to take Adam home because there was nothing he could do for them. He coldly told them there was no way the family could afford an experimental treatment. To make matters worse, the doctor could not find Adam’s medical paperwork, Recke recalled.

Although devastated, the Reckes did not give up hope. They researched the disease and found doctors with more knowledge about the disease, such as Dr. Marc Patterson, a pediatric neurologist at the Mayo Clinic, who has been trying to find a cure for the last six years.

Always looking for ways to help his son, Sean Recke attended a U.S. Food and Drug Administration panel on an experimental drug for Niemann-Pick Type C. Although approved in other countries, the FDA did not approve the drug due to the side effects--- diarrhea and bone growth issues.

Despite the lack of FDA approval, Adam takes this medication and does not suffer any side effects, Recke said.

Adam, now a sixth-grader at East Hills Middle School in Bethlehem, is doing well, his father said. Beaming with pride, he said Adam is popular and always smiling.

“He is living life to the fullest,” Recke said.

For more information, visit http://www.raceforadam.org/.

Happy Birthday Dad

2011-05-01T20:17:00.000-05:00

Today would have been my Dad's (Tylor's Grandpa) 69th Birthday! Happy Brithday in Heaven...we miss you and love you so much.

Bye Bye Charlie Brown

2011-05-01T20:09:00.000-05:00

Tylor said goodbye to "his" bike today....Charlie Brown and the Great Pumpkin are moving on! Brad, aka Fat Head, is trading Ty's favorite bike in for a new one so we had to get some final pictures of Tylor and the Great Pumpkin....

Fat Head and Tylor

Thanks for the memories Brad, We Love Ya!!

Rare Diseases: Will push for new drugs pay off?

2011-04-28T21:35:00.003-05:00

Cassidy Hempel, 6, waves at hospital staff with the help of her mother, Chris, at the Children's Hospital and Research Center in Oakland, Calif., Friday, March 18, 2011. Cassidy and twin sister, Addison, are being treated for a fatal disorder called Niemann Pick Type C disease. (Credit: AP Photo)

(CBS/AP)Call it the rare disease gap. Scientists have identified more than 7,000 diseases that affect fewer than 200,000 people, but treatments are available for just 200 of the diseases.

But now there's a move to close the gap. The National Institutes of Health this fall will open a center to speed genetic discoveries into usable therapies, doing some of the riskiest early-stage research in hopes companies then will step in.

A new International Rare Diseases Research Consortium is pushing for at least 200 more treatments by 2020, in part by pooling the work of far-flung scientists and families.

Rather than starting from scratch, the FDA is pointing the way for manufacturers to "repurpose" old drugs for new use against rare diseases, publishing a list of those deemed particularly promising.

And legislation recently introduced in the Senate, called the Creating Hope Act, would offer drug makers another financial incentive - a voucher promising fast FDA evaluation of their next blockbuster drug in return for developing a therapy for a rare or neglected disease that disproportionately affects children.

"We have to give drug companies a reason to go into this market," says Nancy Goodman of Kids v Cancer, a group pushing the legislation. Her son Jacob died at age 10 from a type of brain cancer that has no good treatment.

Pharmaceutical giants are starting to show some new interest in rare diseases, traditionally a niche market for small biotech companies. The practical reason: Blockbusters are drying up, says Dr. Ed Mascioli of Pfizer Inc., the world's largest drug company.

Some other companies, including Novartis AG and GlaxoSmithKline PLC, also have begun rare-disease programs.

But NIH Director Dr. Francis Collins says all the activity reflects a larger promise. "Getting a home run with a rare disease sometimes points you in a direction that will be beneficial for common diseases," he told The Associated Press.

That's the argument put forth by Chris Hempel, of Reno, Nev. Her 7-year-twin girls have been getting injections of an experimental drug for Niemann-Pick Type C (HPC), a disease that causes cholesterol and other fats to build up inside cells, harming the brain and other organs until patients lose the ability to talk, walk and swallow. Only 500 children worldwide are known to have it. But a drug that could flush out that build-up, Hempel contends, just might point to a new route to fighting heart disease or Alzheimer's.

Hempel isn't alone in her quest to repurpose common drugs. Consider progeria, a disease that rapidly ages children until they die of a heart attack or stroke, usually before their teens.

Collins' lab at NIH uncovered the gene defect behind progeria, research that he says he pursued only because of meeting another mom, Dr. Leslie Gordon, founder of the Progeria Research Foundation, and her son, Sam, who has the disease. Today, clinical trials are under way using a failed cancer drug named lonafarnib that promises to block some of the progeria mutation's effect.

There are an estimated 150 progeria patients worldwide, but Gordon points to growing evidence that the culprit protein may play a role in the heart disease that comes with regular aging, too.

** Taken from CBS News Health Watch **

Rare Diseases in the Spotlight

2011-04-28T21:27:00.001-05:00

By Marissa Cevallos, HealthKey

1:55 p.m. EDT, April 27, 2011

Rare diseases are likely to get more attention now that an international consortium of patient advocacy groups and research funders has vowed to deliver 200 new therapies by 2020. For people with these diseases, such attention must seem long overdue.

Drug companies currently don’t have much incentive to develop drugs for diseases that affect fewer than 200,000 people, but almost 7,000 rare diseases exist affecting a total of about 25 million Americans.

Many are caused by mutations in a gene. The National Institutes of Health is opening a center in the fall to translate research findings in genetics to usable therapies, the Associated Press reports.

The NIH already has grant programs to spur research in rare diseases. The NIH's Therapeutics for Rare and Neglected Diseases program has a pipeline of projects. Its pilot projects offer a glimpse into some of the diseases that, though rare, can nonetheless have debilitating consequences.

—Schistosomiasis (also known as bilharzia or snail fever): Infection begins when a parasitic worm carried by freshwater snails penetrates the skin and lays eggs in blood vessels. First come rashes, then fever and chills, followed by liver and other organ damage over time. Researchers recently decoded the genomes of two schistosomiasis-causing parasites, which may allow researchers to find ways to inhibit the parasites’ growth. About 200 million people worldwide have the disease, and 280,000 die from it each year.

—Niemann-Pick Type C: In this condition, fatty deposits accumulate in the spleen, liver, lungs, bone marrow and brain. Type A, the most common, is fatal in infants. Type C can appear early in life or in young adulthood; it causes brain damage and ultimately can affect walking, swallowing, seeing and hearing. Only about 500 children in the world are known to have Type C. Researchers have found two genes that can contribute to Type C and Type D, but progress is slow.

—Hereditary inclusion body myopathy: Usually starting in young adulthood, the disease causes muscle-wasting, leading to severe disability in 10-20 years. A clinical trial in 2006 found mild benefits from intravenous immune globulin, essentially antibodies from blood plasma. A small gene therapy trial is underway, and stem cell therapies are being considered.

—Sickle cell disease: Crescent, or sickle-shaped, blood cells block blood flow in vessels, and can lead to stroke, organ failure or death. The disease affects about 70,000 to 100,000 people in the U.S., mostly African Americans. Only one effective medication exists to help prevent deaths. But a few children and adults have been cured by blood and bone marrow transplants.

—Chronic lymphocytic leukemia : This is the most common type of leukemia, a cancer of the bone or blood, found in adults. About 15,000 people are diagnosed each year (and about 101,000 people live with it).

The new consortium’s goal is to have 200 new therapies in nine years. Many people, in seemingly isolated disease groups, are waiting.

** Taken from the Baltimore Sun **

Ty was up for the Challenge

2011-04-28T21:18:00.000-05:00

Yes it's that time of year again....Spring, which means Special Olympics Challenge day! But remember we do live in the Midwest so it was a good thing the event was held indoors because it snowed most of the day!! That sure didn't stop Tylor...even though he slept through his first event, team basketball. After his little rest he was ready to take on the rest of the events. He had a huge fan club that followed him throughout the day. His Dad, Step mom, sister, Liv and Kate, brothers, Will and Drew, Grandma Terri, Aunt Rach, Mom, Sy and his helper for the day Samy (his friend from school). He also was a torch bearer in the Opening Ceremonies...they read a bio about him and he passed the torch on to start the games. This was Tylor's third year participating in the Challenge day and he absolutely loved it.

Our little torch bearer

Warming up to YMCA

Making a cool picture frame with Samy and my sisters

You like??

Look Ty is awake

My FAN club

Look at all his ribbons and medal

God Bless

What has Ty been up to??

2011-04-14T15:44:00.000-05:00

Hello Everyone!

Tylor has been a very busy little (or should I say big??) boy. A few weeks ago he had a speech evaluation to find out if there is a better way for him to communicate with us. Because the disease is not progressing like we thought it would he is still interacting very well but verbal communication is hard for him. The speech therapist suggested we look into DynaVox. This device looks kind of like the iPad, it is all touch screen but it talks for him. He will be able to take pictures with it and add descriptions. We got to try it out with a DynaVox sales rep last week and I think this will work great for Ty. Tylor should receive his in about three weeks. We have four weeks to try it and make sure that it is the right fit for Ty and if it is it's his!!! I am so excited about this...

Last weekend we took a road trip to Milwaukee so watch the Cubs/Brewers game! Of course the Cubs lost but being the die hard Cubs fans that we are you get use to it! Even though they got beat 6 to 0 Tylor had a great time. He was girl watching most of the game. On our way home we visited Tylor's Great Grandma Pearl, Aunt Janet, and Uncle Terry in Rosco, Illinois. He slept most of the time...he was tried after chasing all the girls at the game.

This week Tylor received a bike from therapy, they are letting us keep it for the summer. He lights up every time he is on it. He rides for about 45 minutes everyday....he is pretty tired when we are done. He thinks it's funny to go fast so I have to run along side of him, what a little stinker!

More on Histone Deacetylase Inhibitor

2011-04-09T13:41:00.002-05:00

University of Notre Dame Press Release Claims Breakthrough

A paper claiming a breakthrough in the fight against Niemann-Pick Disease Type C (NPC) appeared in a recent issue of Proceedings of the National Academy of Sciences (PNAS). The paper, coauthored by Olaf Wiest and Paul Helquist of the University of Notre Dame and Frederick Maxfield of Cornell University, says the use of an unspecified histone deacetylase inhibitor corrects the damage done by the genetic disorder NPC and allowed once-diseased cells to function normally. Follow this link to view an abstract of this paper at PNAS: http://www.pnas.org/content/early/2011/03/15/1014890108

To help understand the press release issued by Notre Dame on March 21, the NNPDF consulted three respected experts in Niemann-Pick Disease Type C: Dr. Dan Ory of Washington University, Dr. Marc Patterson of Mayo Clinic, and Dr. Denny Porter of the National Institutes of Health. Follow this link to view the Notre Dame press release dated March 21, 2011: http://www.eurekalert.org/pub_releases/2011-03/uond-bin032111.php

Daniel Ory, M.D., Washington University School of Medicine, and Chair of the NNPDF’s Scientific Advisory Board, responded to our inquiry:

The results are promising, but represent an early step in the process of identifying effective compounds for NPC. More cell studies are needed to understand the mechanism [and] mouse studies should be pursued….there is a long history of compounds that are effective in reducing cholesterol in cultured cells but do not have benefits in animal models, so we should be cautious in extrapolating such results to humans.

Marc C. Patterson, M.D., Chair of the Division of Child and Adolescent Neurology at Mayo Clinic, also a member of the NNPDF’s SAB, further cautioned against making premature assumptions:

The work was done in cultured fibroblasts, so one should be very cautious about extrapolating these data to animals or humans. Moreover, the work was done in cells expressing one or two I1061T NPC1 mutations, and may not be relevant to other mutations; it was not effective in an NPC2 mutant cell line. Of note, the late Dick Pagano showed dramatic reversal of trafficking abnormalities and filipin staining in NPC fibroblasts in which rab 7 and 9 were overexpressed, but much more modest results in transgenic mice with NPC1 mutations and rab overexpression.

Mouse studies could certainly be justified, but it would be premature to assume that this approach will be applicable in humans with NPC.

Another of the NNPDF's SAB members, Forbes “Denny” Porter, M.D., Ph.D., of the National Institute of Child Health and Human Development at the National Institutes of Health (NIH), stated, “It is always good news to have a potential new approach to treating NPC. Cells are the starting point, but to translate this to a potential therapy more work needs to be done.”

The paper by Wiest, Helquist and Maxfield does not name the specific histone deacetylase inhibitor. Histone deacetylase inhibitors (referred to as HDAC inhibitors) are a class of compounds that interfere with the function of histone deactylase. HDAC inhibitors have a history of use in psychiatry and neurology as mood stabilizers and anti-epileptics.

One HDAC inhibitor, valproic acid, was considered as a possible treatment for NPC, but results have not been overly promising.

Yiannis Ioannou, Ph.D., Department of Genetics and Genomic Sciences at Mount Sinai School of Medicine, also a member of the NNPDF’s SAB, made the following statement regarding his recent study of valproic acid and NPC:

We have just concluded our mouse studies on valproic acid and have evaluated its effect on cells from a number of NPC patients and on the NPC mouse. Unfortunately, the results are not great.

• For NPC patient cell lines we have treated six different lines with valproate. Some cells responded positively; i.e., the cholesterol storage was cleared but some lines were completely resistant to the treatment. Upon analysis of our data it became clear that if the patient has a relatively mild mutation then they would respond to valproate, whereas if the mutation is more severe, then the cells don’t respond.

•With respect to the mouse study, we have treated about 25 mice with daily dosing of valproate. We can extend the life of these mice by about 10%. The mice live about 122 days on average vs. 108 days for the untreated mice.

At this point we don’t think that valproic acid would be beneficial for NPC patients.

Some years ago, valproic acid was given to a few NPC patients, including Stacey Vorpahl (1985-2004), the daughter of Gary and Barbara Vorpahl of Fort Atkinson, Wisconsin for the treatment of seizures. Barb, Vice Chair of the NNPDF Board of Directors, recently posted to the NNPDF listserv group about her family’s experience with valproic acid (as Depakote):

We did have Stacey on valproic acid (Depakote) for seizures when she first started having seizures. This was at age seven. Once she started Depakote we saw a rapid decline. One of the side effects is muscle weakness. It can also actually cause seizures at higher doses. She was on Depakote for about a year. She quit talking, needed a wheelchair, could no longer sit up or roll over by herself. We didn’t think she would survive to age 8 at her rate of deterioration. We thought the decline was from NPC but after comparing notes with other parents and seeing strange seizures that their children were also experiencing when doses were increased, we decided to gradually wean her off of Depakote and try another seizure medication. It was like bringing her back from the dead. We saw her strength start coming back, alertness level [sic], her talking never resumed but she did have strength to walk with assistance. I know others have had success with valproic acid but for Stacey it was a very negative experience. I was very surprised when I saw research coming out on valproic acid. It may work in mice but it certainly did not help our daughter even controlling seizures.

This summary was compiled by the NNPDF Central Office staff with thanks to the members of our esteemed Scientific Advisory Board. (March 31, 2011)

The National Niemann-Pick Disease Foundation (NNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. This site is an educational service of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. Information contained or suggested on this Web site does not constitute medical advice. For all information related to care, medication or treatment, the NNPDF recommends consulting a physician to determine if information presented is applicable. Please review these additional cautions about medical information provided on the Internet.

Promising Trial

2011-04-09T13:27:00.000-05:00

NIH to Develop Clinical Trial Utilizing Cyclodextrin
Informational Conference Call to be Scheduled

The National Institutes of Health (NIH), in collaboration with the Therapeutics for Rare and Neglected Diseases Program (TRND), is developing a clinical trial utilizing cyclodextrin for Niemann-Pick Type C patients.

The clinical trial is in the planning phase and many criteria must be met and numerous approvals granted before the trial can take place. Dr. Porter, a Senior Investigator at the NIH, and Dr. Ory, NNPDF Scientific Advisory Board Chair, are working collaboratively to bring this trial to our NPC patient community.

In early May, the NNPDF will host a conference call with key constituents and researchers, for all interested parties in the NPC community to learn more about the work being done at the NIH. This conference call will include information pertaining to the development of plans for a cyclodextrin trial.

As a date and details for the conference call are confirmed, the NNPDF will update and inform our NPC family membership with the call-in information, agenda outlines and topics of discussion. We anticipate that after the presentation, the conference call format will allow participants to submit questions to the speakers/researchers.

Further updates on the clinical trial will be presented at the NNPDF Family Support and Medical Conference in Norfolk, Virginia, July 28th - 31st. Dr. Porter and Dr. Ory will answer questions pertaining to the clinical trial and will report up-to-date information about the trial at the conference.

For more information about Niemann-Pick Disease and the National Niemann-Pick Disease Foundation, visit http://www.nnpdf.org/.

Ty's in Springfield making a splash!!

2011-03-26T14:25:00.016-05:00

Sy's family reunion was this weekend in Springfield, Illinois! It is always a little hard on Tylor to travel and be out of his route but he had so much fun. He got to spend time with his cousin's and swim! He had a blast in the pool! He splashed me a lot...but don't worry I got him back. Here are some pictures from the weekend. I hope you enjoy them.

Breakthrough at Notre Dame

2011-03-23T16:24:00.000-05:00

Artical from the Wall Street Journal
By Amy Dockser Marcus

Researchers at Weill Cornell Medical College and the University of Notre Dame said they used drugs being tested for cancer to correct a cholesterol-storage defect in a lethal, rare disease called Niemann-Pick Type C (NPC).

The researchers found that a compound called LBH589, part of a group of drugs called histone deacetylase (HDAC) inhibitors, corrected the defect in human NPC cells in a lab setting. The LBH589 compound is being studied in clinical trials to treat several forms of cancer, including brain cancer. The idea of repurposing drugs used in more common diseases to try to treat rare conditions is an increasingly popular approach to drug development.

The finding, published this week in the Proceedings of the National Academy of Science, is considered early stage since the experiments were done in tissue culture models of NPC, a genetic cholesterol-metabolism disorder that is ultimately fatal. Typically, promising compounds are then tested in an animal model before being tried in humans. Compounds that work in cells are not always effective in animals or humans.

Paul Helquist, one of the authors of the PNAS paper and a professor of chemistry and biochemistry at Notre Dame, says the researchers are hopeful that the class of inhibitors might be useful not only in NPC disease but in other neurodegenerative disorders where lipids inappropriately accumulate in cells. He said that they would like to test the compound in a cat model of NPC disease.

The paper comes at a time when the NIH is gearing up for a clinical trial involving another promising compound, cyclodextrin, that has been tested in animal models and is being given experimentally to a small number of children. Last week, NIH director Francis Collins discussed the NIH’s NPC efforts in a webinar sponsored by the FasterCures organization.

It isn’t easy to get clinical trials going in rare diseases like NPC, which affects only an estimated 500 people world-wide. The number of patients is so small that it is difficult to attract pharmaceutical company interest. As a result, unusual partnerships are sometimes needed between patient advocacy organizations and researchers to try to drive research and trials.

The PNAS paper represents one such partnership. The research was funded in part by the Ara Parseghian Medical Research Foundation. Parseghian, the former Notre Dame head football coach, had three grandchildren who died from NPC.

Last summer, the Notre Dame College of Science dean and his wife biked over 2000 miles from Tucson — where the Parseghian Foundation is based — to Notre Dame to raise awareness about NPC. The foundation set up an endowment at Notre Dame last year to support research into and an annual scientific conference about the disease.

Among the programs, Notre Dame offers an undergraduate course at its Center for Rare and Neglected Diseases to teach undergraduates how to collect and analyze data from NPC patients. Notre Dame also has a program open to researchers who want to synthesize potential drugs for use in experiments or trials in rare or neglected diseases, including NPC.

Photo: Associated Press

Leah's story

2011-03-04T10:09:00.001-06:00

A HEART-rending documentary about a little Fleetwood girl who captured the town’s heart was screened on prime time TV this week.

AN ITV crew spent two-and-half years filming Leah Garfitt, who suffers from the genetic illness Niemann Pick Disease Type C, and her family in Fleetwood.

Leah, who is nine years old and attends Red Marsh School, Thornton, is one of only 500 children in the world suffering from the disorder which attacks the nervous system.
It has already robbed the pretty youngster of the ability to talk and walk, and she now has numerous other problems including dementia.

And tragically, the illness is likely to cost the youngster her life before she reaches the age of just 15.

However, from Leah’s heart-breaking story film maker Chris Malone has created a film which he says is uplifting and carries a message of love, bravery and down-to earth determination.

The programme, Leah’s Dream, was broadcast on Tuesday, March 1, at 9pm on ITV1.

Manchester-based Chris told the Weekly News: “There is a sad story at the heart of it because of Leah’s illness, but in many ways it is uplifting.

“It is a love affair between a little girl and her devoted mother, Lindsey Patterson, who has to come to terms with her daughter’s illness, and the strength of their family when things are tough.

“Lindsey then also has to face up to her own illness when she is diagnosed with a brain tumour and almost dies on the operating table.”

Chris added: “The film is also about the community of Fleetwood.

“When I started filming in Fleetwood I fell in love with this place; the community is so warm and down to earth.

“Everyone seems to know Leah and there is a lot of love for her in the town.”

Well known places in Fleetwood were featured in the film, including the Ferry Cafe, the beach and promenade.

The TV film also touched on Leah’s trip to Disney World on Florida.

Funds for this once-in a lifetime trip were during a Weekly News campaign which raised an astounding £10,500 plus over 2007/8.

Fleetwood’s community responded magnificently with fundraisers and donations large and small, ensuring that Leah could enjoy the special trip while she was well enough.

Tragically, today such a trip would be impossible because Leah is not well enough.

The film starts at Leah’s seventh birthday where she is celebrating and singing along to High School musical, and follows her for the next two-and-half years.

Lindsey tells the programme about how Leah was diagnosed with Niemann-Pick as a baby after she noticed her little girl seemed tired and fragile.

Both Lindsey and Leah’s father, Michael Garfitt, carry the gene but were unaware of it.

Lindsey, of Wansbeck Avenue, Fleetwood, says in the documentary: “Not too sure what the future holds for Leah. To be honest and true, your living in limbo.”

And dad Michael says of his precious daughter: “She has taught me to care for people more, I think.

“Just to enjoy what you’ve got.”

A Father speaks about their struggle with NPC

2011-03-04T10:01:00.004-06:00

Carl and Emma Burdon, like most parents, want to fill their child's life with as much love as they can.

Every moment with their six-year-old son Calum is particularly precious to the Freckleton couple, though, because he has a rare genetic disorder.

Calum has Niemann-Pick condition (NPC) which is likely to claim his life before he reaches his 10th birthday.

Mr Burdon said: "We have had to accept that unless there is a miracle, Calum is going to die young.

"Children don't usually survive past the age of eight or nine."

Calum was born with an enlarged spleen, one of the symptoms of the condition, but he was almost two when he was diagnosed with Niemann-Pick type C.

'In denial'
The couple were concerned he was not running or jumping about like normal toddlers and doctors did genetic tests on him which confirmed he had the disease in May 2006.

Mr Burdon said it was very difficult to accept. He said: "The hardest thing is the feeling that you can't do anything about it, that gets to you. There's no cure and no treatment and you feel useless."

The family have concentrated their efforts "on squeezing a lifetime of love in whatever time we have with him" and fundraising for children with the disease.

Both singers, the couple have done countless charity gigs for good causes in the past. "It really hits home, though, when you are doing events for your own child."

They stage an annual charity golf day and evening meal at Garstang Golf Club which is being held on 15 July this year and they are aiming to raise £10,000.

The trauma of living with a death sentence hanging over Calum's head has brought the couple closer.

"It's very tough to deal with but we're very committed to Calum and to each other."

Calum Burdon is going to Disneyworld in May through Hopes and Dreams charity His two children from a previous marriage Ricky and Derry, who do not have the condition, are equally supportive.

"They dote on Calum and make a real fuss of him. He always perks up when they're around."

According to the Niemann-Pick Disease Foundation, there are just 500 cases diagnosed worldwide - yet there is another child with the disorder from the Fylde coast.

Nine-year-old Leah Garfitt, the subject of Tuesday night's ITV documentary Leah's Dream, lives less than 20 miles from Calum in Fleetwood.

The two families have formed a bond and Calum and Leah meet up when they go to Brian's House at Trinity Hospice.

As well as support from Brian's House, the family say they also get much needed support from the Niemann-Pick Disease UK.

The charity's executive director, Toni Mathieson, has personal experience of the condition. Three of her children had it.

Now one of the UK's leading authority on the disorder, she said: "Sadly it is always fatal at the moment and it is a very difficult and challenging time for the families of children with the disease. It is never easy."

Mr Burdon glows with pride at his son. "We are so proud of Calum and his achievements but it isn't the usual things you would be proud of your children for - it can be him getting off the couch or finishing a sentence."

A snooker fan, Calum has met his heroes, including a home visit from three-times World Champion John Higgins through his cue doctor Kevin Muncaster who is from Freckleton.

"The look on his face when he realised it was John Higgins was fantastic."

Sports presenter Andy Goldstein has organised it for the couple to take Calum to Disneyworld in May through the Hopes and Dreams charity.

It will be a poignant, though. "We're creating memories for him but we're aware it will probably be his last trip."

Despite the inevitability of his condition, Calum is not short of giving or receiving affection. "I don't know any child who has had as much love and kisses as Calum has."

"He knows he is special, but he just doesn't know why," added Mr Burdon.

NIEMANN-PICK TYPE C FACTS

The disease is inherited. Both parents have to be carriers of the faulty gene and there is a 25% chance that they will pass on the condition to their child

It occurs when the body cannot break down cholesterol and other fats, leading to excessive levels of cholesterol in the liver, spleen and the brain

The condition is characterized by eye movement abnormalities, difficulty in swallowing and slurred, irregular speech, lack of muscle control and intellectual decline leading to dementia

Yum Yum

2011-03-04T09:54:00.000-06:00

This week Tylor got a very special package in the mail from Rich, a counselor from Albrecht Acres. He lives in the UK. He sent Tylor a ton of British candy and a letter.

Thank you Rich!! Tylor's face lite up when I read him your letter. He was so happy to hear from you and he loved the candy. And yes Tylor is going back to camp. Take care and we will see you this summer.

Sturge-Weber Syndrome

2011-02-24T15:04:00.000-06:00

What is Sturge-Weber Syndrome?
Sturge-Weber syndrome is a neurological disorder indicated at birth by seizures accompanied by a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face. The birthmark can vary in color from light pink to deep purple and is caused by an overabundance of capillaries around the trigeminal nerve just beneath the surface of the face. Sturge-Weber syndrome is also accompanied by the loss of nerve cells and calcification of tissue in the cerebral cortex of the brain on the same side of the body as the birthmark. Neurological symptoms include seizures that begin in infancy and may worsen with age. Convulsions usually happen on the side of the body opposite the birthmark and vary in severity. There may be muscle weakness on the same side. Some children will have developmental delays and mental retardation; most will have glaucoma (increased pressure within the eye) at birth or developing later. The increased pressure within the eye can cause the eyeball to enlarge and bulge out of its socket (buphthalmos). Sturge-Weber syndrome rarely affects other body organs.

Is there any treatment?
Treatment for Sturge-Weber syndrome is symptomatic. Laser treatment may be used to lighten or remove the birthmark. Anticonvulsant medications may be used to control seizures. Surgery may be performed on more serious cases of glaucoma. Physical therapy should be considered for infants and children with muscle weakness. Educational therapy is often prescribed for those with mental retardation or developmental delays. Doctors recommend yearly monitoring for glaucoma.

What is the prognosis?
Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment.

What research is being done?
The NINDS supports a broad program of research to better understand congenital seizure disorders. This research is aimed at developing techniques to diagnose, treat, prevent, and ultimately cure disorders such as Sturge-Weber syndrome.

World Rare Disease Day-February 28th!!

2011-02-23T10:22:00.000-06:00

Don't forget that February 28th is the 3rd Annual World Rare Disease Day. There are an estimated 7000 rare diseases affecting 30 million people in the United States alone!! To me these numbers were upsetting but the next number out right shocked me....out of the 30 million people affect 75% are children! After reading this I figured that most people either know someone close or have met someone with a rare disease. This is your chance to WEAR THAT YOU CARE. Challenge your friends, co workers, and family to wear jeans on Monday, February 28th. Get a collection going at work or school...pay $5 to wear jeans....there are 30 million people counting on YOU!

Click here to find out where to send donations $$$$

Two Thumbs up for Ty

2011-02-16T15:40:00.000-06:00

Tylor waiting for his last appointment

Tylor recently had his six month check up at Mayo Clinic. We went up the night before so Ty could get a good night sleep and not have to get up real early in the morning.

We saw Lisa Epp, the dietitian, first. She was very happy with his weight! He is maintaining a healthy weight but oral eating is becoming harder so she suggested we just feed him what he likes to eat. It doesn't have to a well balanced meal all the time since he gets all his nutrients through he G-tube. I told Ty hey how many people get the permission to be a junk food junking from their dietitian? Our main goal is to keep him eating orally as long as possible so the food we feed him needs to be something easy for him to eat...like Mac N Cheese, PBnJ, soups, spaghetti o's.

Next we saw Dr. Patterson. He again was please with how is doing. His progression is very slow...he is actually pretty sable right now. I think this is great considering the onset of symptoms started eight years ago. We talked about starting Ty on Cyclodextrin. Dr. Patterson explained that it would be given on an uncontrolled basis and that we don't know if it will help or hurt him. He also told us to look at the big picture...Ty's quality of life! Tylor is very happy, he loves to go to school and has tons of friends. Giving him the Cyclodextirn could possibly change this. After some more conversation we decided not to pursue getting Tylor on Cyclodextrin at this time. Dr. Patterson told us to keep doing what we are doing....Loving him and keeping him health. We can do that!!!

Lastly Tylor got his G-tube changed. Penny said that the sight looked good just a little redness from the old tube being a little tight. She gave us some pointers on how to replace the tube with little to no pressure on Ty's belly. Then we were on our way!

Go Pack Go

2011-02-12T11:21:00.000-06:00

Tylor was a very happy camper after the Packers won the Superbowl. We had a Superbowl party and Tylor fit right in....

Special Olympics

2011-02-12T11:15:00.000-06:00

Last weekend we headed down to Eldridge to walk Tylor play basketball. He had so much fun with his friends and they got 2nd place. Here are some pictures for you all to enjoy.

World Rare Disease Day-Wolman Disease

2011-02-12T11:02:00.001-06:00

What is Wolman disease?
Wolman disease is a rare inherited condition involving the breakdown and use of fats and cholesterol in the body (lipid metabolism). In affected individuals, harmful amounts of lipids accumulate in the spleen, liver, bone marrow, small intestine, small hormone-producing glands on top of each kidney (adrenal glands), and lymph nodes. In addition to fat deposits, calcium deposits in the adrenal glands are also seen.

Infants with Wolman disease are healthy and active at birth but soon develop signs and symptoms of the disorder. These may include an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, low muscle tone, a yellow tint to the skin and the whites of the eyes (jaundice), vomiting, diarrhea, developmental delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food. Children affected by this condition develop severe malnutrition and generally do not survive past early childhood.

How common is Wolman disease?
Wolman disease is estimated to occur in 1 in 350,000 newborns.

What genes are related to Wolman disease?
Mutations in the LIPA gene cause Wolman disease.

The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they can be used by the body.

Mutations in this gene lead to a shortage of lysosomal acid lipase and the accumulation of triglycerides, cholesteryl esters, and other kinds of fats within the cells and tissues of affected individuals. This accumulation as well as malnutrition caused by the body's inability to use lipids properly result in the signs and symptoms of Wolman disease.

Read more about the LIPA gene.

Where can I find information about diagnosis, management, or treatment of Wolman disease?
These resources address the diagnosis or management of Wolman disease and may include treatment providers.

•Gene Test: Wolman Disease

You might also find information on the diagnosis or management of Wolman disease in Educational resources and Patient support.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook

**taken from Genetics Home Reference**

Blizzard of 2011

2011-02-02T16:06:00.000-06:00

Thought some of you might enjoy seeing what Mother Nature dumped on us last night!!

Poor Bono trying to get into the house

Out the back

Front door

Out the front

Back door

Front door

Next morning out the front

Sy going out back to start shoveling

Holy Cow

Tractor didn't do a whole lot...we had to shovel most of it by hand

Next door

the side gate...we can't get open

Finally a path out back...now on to the front!!

God Bless

Hemophagocytic Lymphohistiocytosis HLH

2011-02-02T15:52:00.001-06:00

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease that usually affects infants and very young children. In rare cases it can affect adolescents and adults. HLH affects approximately one in every one million children.

Patients with HLH have an abnormally regulated immune system, and specific white blood cells, called macrophages, grow abnormally and accumulate in the body's organs, including the liver, spleen, bone marrow, central nervous system and skin.

There are two main types of HLH: primary and secondary. Primary HLH, also known as familial or relapsing HLH, is an inherited condition. Affected individuals may have an abnormality in a gene that is important in regulation of immune response; some of these gene defects are now known and can be detected. A similar illness, called secondary HLH, may be triggered by certain types of infection, auto-immune diseases and/or by cancer. The treatment of HLH includes chemotherapy. For some patients, bone marrow transplantation is recommended.

**taken from Children's Hospital Boston**

Undergrads research rare incurable disease

2011-02-02T15:40:00.001-06:00

Class contributes clinical findings on Niemann-Pick Type C disease to The National Institute of Heal

By Anna Boarini

As participants in a semester-long course, Notre Dame undergraduates have the rare opportunity to contribute to real clinical research about Niemann – Pick Type C (NP-C) disease.

The course, titled "Clinical research in developing health networks in rare and neglected diseases," is one of only a few similar courses offered at universities around the country, said Katrina Epperson, program coordinator for the Center for Rare and Neglected Diseases at Notre Dame.

"There are 17 symptoms of NP-C and the students track the nine major ones," Epperson said. "The students look at medical records to give a score to each doctor visit. This then helps track the progression of the disease."

Notre Dame gives its results from the course to The National Institute of Health (NIH), which is currently conducting the only clinical trial on NP-C in the United States.

According to NIH's website, NP-C is an inherited metabolic disorder that causes harmful amounts of fatty substances to collect in the brain, bone marrow, spleen, lungs and liver. NP-C is classified as a liposomal storage disorder, where cells do not trap cholesterol in the proper manner. Cholesterol builds up, which affects the central nervous system and causes the deterioration of the brain.

Also known as "childhood Alzheimer's," NP-C effects one in 200,000 people, Epperson said.

"Because this disease affects such a small group, it is really hard to find people to do a clinical trial," Epperson said.

Biology Professor Kasturi Haldar, director of Notre Dame's Center for Rare and Neglected Diseases, teaches the course.

Mollie Howard, a senior biology major, is one of 30 students enrolled in the course this semester.

"I was looking for another biology elective and this sounded really interesting," Howard said. "There is no cure for NP-C and there's a delay from when the child starts to show symptoms and is diagnosed."

Notre Dame became associated with NP-C through former head football coach Ara Parseghian, who has three grandchildren who died from NP-C. He started the Ara Parseghian Medical Research Foundation to raise awareness about NP-C and fund research.

"This is close to the community," Epperson said. "There are 7,000 rare diseases and with the creation of the Center for Rare and Neglected Diseases, it makes it hard to just pick one [to study]. This relationship helped us choose."

After the students learn how to follow the Health Insurance Portability and Accountability Act (HIPPA), they make presentations about the families that are suffering from NP-C in an attempt to put a face to medical records. Epperson said students may eventually be able to meet some of the patients whose medical records they research.

"We want if possible to include actually meeting some of these patients," Epperson said.

One concern with bringing patients into the class is respect for the patients' privacy, Epperson said.

"We want to respect the patients and not make them feel like they're on display," she said.

In the meantime, Epperson said there are other ways for the students to understand the lives of the patients who they research.

"The Discovery Channel came and taped a show about NP-C, so now we can show the students the video," she said.

Taken from The Observer

Joubert Syndrome

2011-01-27T12:37:00.001-06:00

What is Joubert Syndrome?
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), jerky eye movements (oculomotor apraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur.. Most cases of Joubert syndrome are sporadic (not inherited). In some families, however, Joubert syndrome appears to be inherited in an autosomal recessive manner (meaning both parents must have a copy of the mutation) via mutation in a number of genes, including NPHP1, AHI1, and CEP290.

Is there any treatment?
Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorders should be performed on a regular basis.

What is the prognosis?
The prognosis for infants with Joubert syndrome depends on whether or not the cerebellar vermis is partially developed or entirely absent. Some children have a mild form of the disorder, with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

What research is being done?
The NINDS supports research on the development of the nervous system and the cerebellum. This research is critical for increasing our understanding of Joubert syndrome, and for developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored a symposium on Joubert syndrome in 2002. Research priorities for the disorder were outlined at this meeting.

**Information taken from National Institute of Neurological Disorders and Stroke website**

Friedreich's Ataxia

2011-01-26T14:37:00.000-06:00

Before Tylor got diagnosed with Niemann Pick Type C (NPC) the doctors tested him for Friedeich's Ataxia. The test came back negative but they did find out that Tylor is a carrier of this disease.

Overview

Friedreich's ataxia is a rare disease passed down through families (inherited) that affects the muscles and heart.

Alternative Names
Spinocerebellar degeneration

Causes
Friedreich's ataxia is caused by a defect in a gene called Frataxin (FXN), which is located on chromosome 9. Changes in this gene cause the body to produce too much of part of DNA called trinucleotide repeat (GAA). Normally, the body contains about 8 to 30 copies of GAA. Those with Individuals with Friedreich's ataxia have as many as 1,000 copies. The more copies of GAA a patient has, the earlier in life the disease starts and the faster it gets worse.

Friedreich's ataxia is an autosomal recessive genetic disorder. This means you must get a copy of the defective gene from both your mother and father.

About 1 in every 22,000-29,000 develop this disease. Family history of the condition raises your risk.

Symptoms
Symptoms are caused by the wearing away of structures in areas of the brain and spinal cord that control coordination, muscle movement, and some sensory functions. Symptoms generally begin in childhood before puberty, and may include:

•Abnormal speech
•Changes in vision, particularly color vision
•Decrease in ability to feel vibrations in lower limbs
•Foot problems, such as hammer toe and high arches
•Hearing loss -- occurs in about 10% of patients
•Jerky eye movements
•Loss of coordination and balance, which leads to frequent falls
•Muscle weakness
•No reflexes in the legs
•Unsteady gait and uncoordinated movements (ataxia) -- gets worse with time

Muscle problems lead to changes in the spine, which may result in scoliosis or kyphoscoliosis.

Heart disease usually develops and may lead to heart failure. Death may result from heart failure or dysrhythmias that do not respond to treatment. Diabetes may develop in later stages of the disease.

Tests & diagnosis
The following tests may be performed:
•ECG
•Electrophysiological studies
•EMG (electromyography)
•Genetic testing for the frataxin gene
•Nerve conduction tests
•Muscle biopsy
•X-ray, CT scan, or MRI of the head
•X-ray of the chest
•X-ray of the spine

Tests of the heart may show a condition called hypertrophic cardiomyopathy in about 66% of persons with this condition.

Blood sugar (glucose) tests may reveal diabetes or glucose intolerance. An eye exam may show damage to the optic nerve, which usually occurs without symptoms.

Treatment
Treatment for Friedreich's ataxia includes:
•Counseling
•Speech therapy
•Physical therapy
•Walking aids or wheelchairs

Orthopedic interventions (such as braces) may be needed for scoliosis and foot problems. Treatment of heart disease and diabetes may help improve the quality and duration of life.

Prognosis
Friedreich's ataxia slowly gets worse and causes problems performing everyday activities. Most patients need to use a wheelchair within 15 years of the disease's start. The disease may lead to early death.

Complications
•Diabetes
•Heart failure or heart disease
•Loss of ability to move around

When to contact a doctor
Call your health care provider if muscle weakness, numbness, loss of coordination, loss of reflexes, or other symptoms of Friedreich's ataxia occur (particularly if there is a family history of the disorder).

Prevention
Individuals with a family history of Friedreich's ataxia who intend to have children should consider genetic screening and counseling to determine their risk.

**Information taken from Google Health**

Multiple Cavernous Malformations-Patti's journey

2011-01-25T11:19:00.000-06:00

Food Protein-Induced Enterocolitis Syndrome (FPIES)

2011-01-20T17:54:00.000-06:00

January 20, 2011 - By KATE YORK Special to The News and Sentinel

The Arnold Family

MARIETTA - Braylen Arnold isn't your average picky eater.

The nearly 18-month-old Marietta boy does have screaming fits at the dinner table regularly, but they're rooted in what he can't have rather than not wanting what's offered.

Last spring, Braylen became one of only about 150 children in the U.S. to be diagnosed with food protein-induced enterocolitis syndrome (FPIES), a debilitating disease that mimics food allergies. Most children affected react to either wheat, rice, soy or dairy - Braylen reacts to them all.

"We have to keep him on a very strict diet," said his mother, Melissa Arnold. "He can only have (non-berry) fruit and formula. It's very hard because the older he gets, the more he wants to explore. He's fighting to have our food."

His parents, Melissa and Ben, had a fight of their own just to get their son diagnosed. Now, they're taking part in a benefit in Marietta Saturday that will help fund a Philadelphia Children's Hospital research study on FPIES, the first study of its kind in the U.S. Along with little research, there is no known cause and it's unclear whether it can be passed on.

"We don't want other parents to have to go through what we went through to get a diagnosis," said Melissa Arnold. "It's scary and it's sad to be a parent and feel that helpless."

Braylen was 3 months old when the couple fed him rice cereal for the first time and the symptoms began.

"He went to sleep immediately and then threw up for two hours," said Ben Arnold. "He was throwing up this yellow bile."

What followed was half a dozen visits to the local emergency room and to the family's physician and the frustration of parents knowing something is wrong with their child and being told it's not true.

"We got every diagnosis from the flu to a virus to that we were feeding him too much," said Melissa Arnold.

"None of the doctors knew anything about FPIES," said her husband.

For nearly six months, Braylen would be violently ill after eating, as well as sleepy and lethargic.

"I can remember a time when I was sitting on the floor with him and he was just limp," said his mother.

The family was eventually sent to Nationwide Children's Hospital in Columbus and to an allergist, who quickly diagnosed Braylen.

That began the little boy's new diet of $16-a-cup formula, dubbed "liquid gold" at the hospital, along with a few fruits.

"A typical day for him might be six to 10 cups of formula, a serving of olives for breakfast, an orange for lunch and three or four bananas," said Melissa Arnold. "It's hard to be creative. You can only cut fruit so many ways."

The toddler regularly visits Children's Hospital in Columbus and has patches, representing different foods, placed on his back to test for a reaction to determine whether the family can try to reintroduce any food item. So far, the only food he hasn't reacted to was corn, which was reintroduced into his diet just a few days ago.

"You can't imagine how excited he was," said Ben Arnold. "It was something different. It's one of the reasons olives are his favorite because they're not cold and sweet like the other fruit, but bitter and salty."

As long as he sticks to his diet, Braylen now functions like a healthy, normal 18-month-old with one exception. He recently began working with a speech therapist, due to minor delays in his speech development related to FPIES.

"He doesn't have different textures in his mouth like most children do," said Melissa Arnold. "He only eats soft, mushy foods and that can affect speech. He doesn't use his tongue very much."

Everyone around Braylen must be vigilant all the time.

"We'll be at a family reunion and everyone wants to hand him a chip or something," Ben Arnold said. "We have to explain it to everyone."

Evelyn Worstell, a member of Reno Christian Church, said no one there had heard of FPIES before Braylen's diagnosis.

"Everybody's known him since he was a tiny baby, and everyone wanted to help," she said. "And with the benefit, since it's for research, we're hoping to help a lot of kids."

The spaghetti dinner will be held from 4 to 7 p.m. Saturday at the Marietta Township Park and Recreation Center, with tickets $6 a person. It will include a silent auction, 50/50 drawing, country store and children's country store. Some of the silent auction prizes include six Ohio State tickets and two Bristol Motor Speedway tickets.

Doctors are hopeful he will grow out of the condition between the ages of 3 to 5, as many children do, and until then the family will be grateful for their rosy-cheeked, active little boy, said Melissa Arnold.

"Some children have even more severe reactions, like shock or low blood pressure or they have to have feeding tubes," she said. "This is difficult, but he gets to function as a normal 18-month-old. He has no limits."

Tay-Sachs Disease-Dakotas Dream 2008

2011-01-19T15:57:00.000-06:00

What is Tay-Sachs Disease?

Tay-Sachs disease is a fatal genetic lipid storage disorder in which harmful quantities of a fatty substance called ganglioside GM2 build up in tissues and nerve cells in the brain. The condition is caused by insufficient activity of an enzyme called beta-hexosaminidase A that catalyzes the biodegradation of acidic fatty materials known as gangliosides. Gangliosides are made and biodegraded rapidly in early life as the brain develops.

Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then, as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Muscles begin to atrophy and paralysis sets in. Other neurological symptoms include dementia, seizures, and an increased startle reflex to noise. A much rarer form of the disorder occurs in patients in their twenties and early thirties and is characterized by an unsteady gait and progressive neurological deterioration. Persons with Tay-Sachs also have "cherry-red" spots in their eyes. The incidence of Tay-Sachs is particularly high among people of Eastern European and Askhenazi Jewish descent. Patients and carriers of Tay-Sachs disease can be identified by a simple blood test that measures beta-hexosaminidase A activity. Both parents must carry the mutated gene in order to have an affected child. In these instances, there is a 25 percent chance with each pregnancy that the child will be affected with Tay-Sachs disease. Prenatal diagnosis is available if desired.

Is there any treatment?
Presently there is no treatment for Tay-Sachs disease. Anticonvulsant medicine may initially control seizures. Other supportive treatment includes proper nutrition and hydration and techniques to keep the airway open. Children may eventually need a feeding tube.

What is the prognosis?
Even with the best of care, children with Tay-Sachs disease usually die by age 4, from recurring infection.

What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), conducts research about Tay-Sachs disease in laboratories at the NIH and also supports additional research through grants to major medical institutions across the country.

Information taken from the NIH website

Another rare disease~Spinal Muscular Atropy

2011-01-18T14:30:00.000-06:00

Over the past couple of days I have been posting information and videos about other rare diseases. As I posted before World Rare Disease Day is February 28th 2011. I will continue to post blogs about other rare diseases to educate people on how these diseases effect our children and in some cases adults.

Today's video is about the Fight for Gwendolyn. Gwendolyn has Spinal Muscular Atropy (SMA). SMA is the leading genetic killer of children under two. SMA alters the use of all muscles, impacting the ability to sit, walk, eat, breathe, and even swallow. The mind is never affected, making the children fully aware of their failing body. Life expectancy is between two and three years of age.

Huntington's Disease

2011-01-17T20:20:00.004-06:00

Huntington's disease is a disorder passed down through families in which certain nerve cells in the brain waste away, or degenerate.

American doctor George Huntington first described the disorder in 1872.

Huntington's disease is caused by a genetic defect on chromosome #4. The defect causes a part of DNA, called a CAG repeat, to occur many more times than it is supposed to. Normally, this section of DNA is repeated 10 to 35 times. But in persons with Huntington's disease, it is repeated 36 to 120 times.

As the gene is passed on from one generation to the next, the number of repeats - called a CAG repeat expansion - tend to get larger. The larger the number of repeats, the greater your chance of developing symptoms at an earlier age. Therefore, as the disease is passed along in families, it becomes evident at younger and younger ages.

There are two forms of Huntington's disease. The most common is adult-onset Huntington's disease. Persons with this form usually develop symptoms in their mid 30s and 40s.

An early-onset form of Huntington's disease accounts for a small number of cases and begins in childhood or adolescence. Symptoms may resemble those of Parkinson's disease with rigidity, slow movements, and tremor.

If one of your parents has Huntington's disease, you have a 50% chance of getting the gene for the disease. If you get the gene from your parents, you will develop the disease at some point in your life, and can pass it onto your children. If you do not get the gene from your parents, you cannot pass the gene onto your children.

Behavior changes may occur before movement problems, and can include:
•Antisocial behaviors
•Hallucinations
•Irritability
•Moodiness
•Restlessness or fidgeting
•Paranoia
•Psychosis

Abnormal and unusual movements include:
•Head turning to shift eye position
•Facial movements, including grimaces
•Slow, uncontrolled movements
•Quick, sudden, sometimes wild jerking movements of the arms, legs,face, andother body parts
•Unsteady gait

Dementia that slowly gets worse, including:
•Loss of memory
•Loss of judgment
•Speech changes
•Personality changes
•Disorientation or confusion

Additional symptoms that may be associated with this disease:
•Anxiety, stress, and tension
•Difficulty swallowing
•Speech impairment

Symptoms in children:
•Rigidity
•Slow movements
•Tremor

There is no cure for Huntington's disease, and there is no known way to stop the disease from getting worse. The goal of treatment is to slow down the course of the disease and help the person function for as long and as comfortably as possible.

Medications vary depending on the symptoms. Dopamine blockers may help reduce abnormal behaviors and movements. Drugs such as haloperidol, tetrabenazine, and amantadine are used to try to control extra movements. There has been some evidence to suggest that co-enzyme Q10 may also help slow down the course of the disease.

Depression and suicide are common among persons with Huntington's disease. It is important for all those who care for a person with Huntington's disease to monitor for symptoms and treat accordingly.

As the disease progresses, patients will need assistance and supervision. They may eventually need 24-hour care.

Huntington's disease causes disability that gets worse over time. Persons with this disease usually die within 15 to 20 years. The cause of death is often infection, although suicide is also common.

It is important to realize that the disease affects everyone differently. The number of CAG repeats may determine the severity of symptoms. Persons with few repeats may have mild abnormal movements later in life and slow disease progression, while those with a large number of repeats may be severely affected at a young age.

The following video clips are about a family suffering from Huntington's Disease. The Father and 3 daugthers are affected by this horrible disease. The second video has no sound but it shows the progression of the disease.

Krabbe Disease

2011-01-16T20:24:00.000-06:00

Krabbe disease ia rare genetic disorder of the nervous system. It is a type of leukodystrophy. Krabbe disease is caused by a defect in the GALC gene. Persons with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase (galactosylceramidase).

The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. Without it, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.

There are two forms of Krabbe disease. Early-onset Krabbe disease appears in the first months of life. Most children with form of the disease die before they reach age 2. Late-onset Krabbe disease begins in late childhood or early adolescence.

There is no specific treatment for Krabbe disease. Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks.

The video below is about Judson's story who has Krabbe disease.
>

God Bless

The Jacob's Cure Story

2011-01-15T12:45:00.001-06:00

Jacob has Canavan disease. Caravan disease ia an inherited condition that affects the breakdown and use (metabolism) of aspartic acid. The lack of the enzyme, aspartoacylase, leads to buildup of material called N-acetylaspartic acid in the brain. This causes the white matter of the brain to break down and deteriorate.

Symptoms usually begin in the first year of life. Parents tend to notice when a child is not reaching certain developmental milestones, including head control.

As for treatment it is aimed to ease the symptoms of the disease. There is no specific treatment.

Please take a look at the video to learn more.

God Bless

The Batten Journey

2011-01-14T15:18:00.002-06:00

Batten Disease is one of the 7000 rare diseases affecting our children.

God Bless

Fishing for Charities Tournament Trail Featured in Online Fishermen Magazine

2011-01-13T10:49:00.001-06:00

The Online Outdoorsmen magazine, Online Fishermen, recently published a story about Fishing for Charities, a fishing tournament trail which raises funds for charitable causes, including Niemann-Pick Disease. Dwayne Linkous, father of 14-year-old Raiden Linkous (NPC), coordinates the tournament trail with the help of some good friends and fishing buddies.

Check out the story on the Online Fishermen (scroll to pages 46-47) or visit the NNPDF's NewsLine page for a link to a JPG of the article.

The NNPDF will be the recipient of funds raised on May 28, 2011, at Claytor Lake, Virginia, in honor of Raiden Linkous (NPC).

Taken from the NNPDF blog

For full details including registration information, rules, etc., please visit http://www.fishingforcharities.net/."

God Bless

New Year New Hope

2011-01-13T10:42:00.000-06:00

Now with the Holidays behind us and a new year ahead I look for new hope. Hope that the doctors and researches with come up with a promising treatment for Niemann Pick Type C (NPC) and that it can be made for all children affected by this horrible disease. Over the past couple of years there has been a lot of talk about Cyclodextrin treating NPC. Chris and Hugh Hempel and Bryan and Laura Hadley have both their children on it. I have talked to Dr. Patterson about it many times and he feels there is not enough data to support the effects of Cyclodextrin on NPC to put Tylor through the procedures. But on the other hand how can we just sit here and do nothing? I am in the process of doing more research and will be contacting the Hempels and the Hadleys about the results they are seeing with their children. We are going back to Mayo in February and I plan on talking to Dr. Patterson about this again. The biggest hurdle will be going to the FDA for approval but if the Hempels and Hadleys got it done I am sure they will have some advise for us.

Some of you may be wondering what Cyclodextrin is. Cyclodextrin is a sugar molecule used in common food and household products like Febreze® Fabric Refresher called Hydroxypropyl Beta Cyclodextrin(HPßCD). To find out more please visit the CTD Holdings, Inc website.

God Bless

Wear Jeans to help 30 million people

2011-01-13T09:50:00.007-06:00

Do you love to wear jeans? I know I do!! Well here is your chance to help make a difference on World Rare Disease Day on February 28th 2011. This is a way for all of us to get involved in the World of Rare. But when I say rare after looking at the numbers rare isn't so rare! There are over 7000 rare diseases, affecting 30 million people in the US alone!! And of those 30 million people 75% of them are children. So as I said before RARE isn't so RARE is it?

But spreading the word can be as simple as wearing a pair of jeans. So I challenge you to get your friends, family, and co-workers involved for World Rare Disease Day on February 28th 2011!!

Please take the time to view the video below. It is about a little boy who has a rare skin disease. I am going to be posting videos from families with children with different rare diseases until World Rare Disease Day.

God Bless

3rd Annual World Rare Disease Day

2011-01-12T10:06:00.000-06:00

Chris Hempel is very active in searching for a cure for Niemann Pick Type C (NPC) and other rare diseases. Chris has twin daughters, Addi and Cassi, who have NPC. She has huddled many obstacles over the past couple of years. Chris and Hugh along with other families, like the Hadleys, and a team of reachers started SOAR (Support of Accelerated Research). She and her husband are working very hard for all the NPC families and I thank them for that. NPC research continues to move forward and with parents like Chris and Hugh there is no way but UP.

By: Chris Hempel

"The National Institutes of Health (NIH) will celebrate the 3rd World Rare Disease Day on February 28, 2011, with a day-long celebration and recognition of the various rare diseases research activities. The event will be held in the Lipsett Amphitheater from 8:30am to 5:15pm. Dr. Francis Collins is expected to speak. A tentative agenda has been posted.

In association with the Global Genes Project, the NIH Office of Rare Diseases Research is encouraging all attendees to wear their favorite pair of jeans to the event to support the Global Genes Project awareness campaign. The Global Genes Project awareness campaign is designed around a denim blue jeans theme and a blue denim ribbon which has become the unifying symbol of hope for the rare disease community worldwide. Check out our kid volunteers who make ribbons!

Denim blue ribbons will be distributed at the event and the Global Genes Project will be bringing some of the 7000 Bracelets of Hope which have also been made by volunteers around the world to represent the 7000 rare diseases that afflict an estimated 250 million people globally.

Supporters from the NIH Clinical Center, the NIH Institutes and Centers, the Health Resources and Services Administration (HRSA), the Food & Drug Administration’s Office of Orphan Product Development (OOPD), the National Organization for Rare Disorders (NORD), and the Genetic Alliance will also be at the event.

Attendance is free and open to the public. Unfortunately, I will not be able to attend as Pfizer is holding a World Rare Disease Day 2011 event the same day and I have been invited to speak along with other rare disease advocates."

In Loving Memory of Robert "Tom" White

2010-12-29T21:10:00.000-06:00

Robert "Tom" White

May 1, 1942-January 1, 2010

Papa and Tylor

It has been one year since you found your way back to Mom. We know your heart was broken after losing her and knowing you are with her again helps us get through each day. But that doesn't mean we don't miss your storytelling, our Friday night union meetings, Western Wednesday or watching a Three Stooges marathon with you. We think about you every day and talk about your old trucking stories. I guess you can say that's what keeps us truckin' on without you.

You will always be loved and sadly missed

Love, Jenn, Ty, and Sy

Rusty, Sy, Tylor, Jenn, and Papa Tom

A Wonderful Christmas

2010-12-29T20:56:00.000-06:00

Christmas 2010 was filled with many wonderful memories! Tylor made yummy treats for his class at school and for family gatherings, we had a surprise visit from Santa at the house, we celebrated White family Christmas at Turner Hall with another surprise visit from Santa, and Ty got to spend some time with his Dad's family where I know Santa visited him there too. Clumsy, Ty's Elf on the Shelf, did a great job reporting all of Ty's good deeds and hard work in therapy because Santa saw him a lot this year.

I can't express how much this Christmas meant to me. It was the first Christmas without my Dad so it was an emotional one but it made me cherish it will Ty even more! I love spending time with our families and seeing the smile on the children's face when they see Santa! Here are some of my favorite pictures from Christmas 2010....ENJOY!!!!

Ty's first surprise visit from Santa

Santa and his helpers

Ty's ordainment he made at OT

Awesome marshmallow turner!! Thanks Dad and Jill

What kinda smile is that??

Santa got to sit on Ty's lap this time

Ty was tired by Sunday

Rusty picking on Tylor

God Bless

Bloodwork Results

2010-12-29T20:05:00.001-06:00

Sorry for the delay in getting the blood work results to all of you. The doctor's nurse called a few weeks ago to let us know that all the blood work was normal and that Ty does not have diabetes! What a relief!! This was the last thing Ty needed to deal with.

I want to thank all of you for your prayers and thoughts while we waited for the results to come in.
God Bless

Arena of Dreams

2010-12-29T19:03:00.001-06:00

Tylor and I recently went to visit Arena of Dreams. Arena of Dreams offers therapeutic equestrian, aquatic, and sound therapy. It is located near Hanover, IL and offers 6 to 8 weeks of therapy for 30 minutes on Sunday afternoons free of charge. The facility is wonderful, they have an activity room, a heated indoor arena, and an indoor pool.

We also took Jamie (Ty's cousin), Diane (James's Mom), and Judy (Ty's Great Aunt) with us. Jamie will be receiving therapy out there as well. Upon arriving we were greeting by Karen, the founder of Arena of Dreams, who showed up around. First off the boys wanted to see the horses. We met Jake and Coco. They are so tame and gentle. Jake put his tongue out while Jamie was petting him and he started saying, "No Lick No Lick". Then it was Ty's turn to pet Jake but it was a little hard to get him close in his wheelchair. I moved him up as close as possible and Jake actually moved him head closer so Ty could pet him....it was so amazing to watch. Then it was time to met Coco and she introduced herself to Ty by sneezing on his shoe! Ty even got to give her a treat.

Meet Jake

Jamie and Judy

Ty and Coco

After the horses were back in their stalls Karen took us to the pool area. They have a hoist to lower patients in if they are unable to walk in and many therapeutic activities to do with them. She works with them from outside the pool while myself or Diane would be in with them. Tylor loves the pool so I am excited to get him back in the pool.

Karen also talked with us about doing sound therapy with the boys. It is a ten week program that we do at home with the boys called The Listening Program. The Listening Program can help with attention and concentration, speech and language, memory, communication, physical balance and coordination, just to name a few. Even though Ty's disease is progressive programs like this one can help to maintain the level his is current at. Below is a short video about the program.

We have plans to start the boys on January 9th....they are so excited!

God Bless

Spreading Holiday Cheer

2010-12-17T16:21:00.000-06:00

Since I am not much of a baker we have to come up with other ways to make fun holiday treats. Janelle found a fun idea in a magazine! Dunk marshmallows in chocolate and then dip them in sprinkles. Tylor had so much fun doing this I thought I would share some of the pictures. Merry Christmas and enjoy!

You can't see it in the picture but we spinkled Ty's nose red
like Rudolph!

Don't they look yummy!

God Bless

Frequently asked Questions about NPC

2010-12-17T16:01:00.002-06:00

I came across this blog that Hugh Hempel, Addi and Cassi's Daddy, posted. Of course I know the questions and answer because we live it everyday but for most of you it is still a disease with so few faces. It is still hard for most to understand and therefore it is difficult to spread the word about a disease you don't really know about except that Tylor has it and it is fatal.

I really felt it was important to share his post with you and I hope you will pass it along. Also a great idea would be to print it out so you have the information handy if anyone asked you about NPC.

The video above is done by the Hadley family. This video is very powerful! It explains about NPC and how they family is coping with this disease.

Thank you Hadley's and Hugh for sharing your stories!!

FREQUENTLY ASKED QUESTIONS

What is Niemann Pick Type C disease?
Niemann Pick Type C is a lysosomal storage disease (LSD) which is a genetic disorder caused by abnormalities in genes or chromosomes. There are group of over 50 lysosomal storage diseases that result from problems in lysosomal function. Every 30 minutes, a child is born with a LSD.

Addi and Cassi were born with two genetic defects on Chromosome 18 on the Niemann Pick Type C gene. Everyone in the world is born with the Niemann Pick Type C gene and could not survive without it. The gene regulates cholesterol metabolism in the human body and there are approximately 500 cases in the world.

In Addi and Cassi’s case, their double genetic defect causes harmful amounts of gangliosides, a very complex type of lipid, to collect in their cells (not blood) and clog them up. The cholesterol accumulation leads to cell death. As cells die, this causes neurological deterioration and also problems with the liver and spleen.

Impaired ganglioside metabolism may also be highly relevant to Alzheimer’s disease. In fact, Niemann Pick Type C is often referred to as the “Childhood Alzheimer’s.”

What are the first symptoms of Niemann Pick Type C disease?
Symptoms vary from person to person. We hear common threads when we talk to parents: jaundice at birth, enlarged liver and/or enlarged spleen, ataxia, cataplexy, and seizures. Organ enlargement is often prolonged and unexplainable. If a child has trouble with balance and coordination in combination with these other symptoms, this could also be an early sign of Niemann Pick Type C. Wikipedia has a complete outline of NPC symptoms.

How did Addi and Cassi get Niemann Pick Type C disease?
Genes are found in 23 pairs within the human body. When a child is conceived each parent passes one gene from every pair of genes to their child. Addi and Cassi inherited two affected Niemann Pick Type C genes at conception. For a simple and informative overview of how we inherit our genes, visit Pathway or 23andme.com

How did Mom and Dad end up with faulty Niemann Pick Type C genes?
Just like Addi and Cassi, we inherited the affected genes from our parents on both sides of our family. Genes are passed down from one generation to the next. We both carry one good copy of the Niemann Pick Type C gene and one bad copy of the Niemann Pick Type C gene. Since we only have one affected gene we are simply considered “carriers,” and we do not exhibit the disease. However, it is unclear if carriership of a faulty NPC gene could impact our health over the long term.

Did you know you were carriers of a defective Niemann Pick Type C genes before you conceived?
No. We had no idea we were both carriers of a faulty NPC gene. Their was no genetic or prenatal testing to detect it. A few new genetic testing companies are now testing parents for rare genetic defects such as Counsyl, 23andme.com and Pathway Genomics.

Are there medications available to treat Addi and Cassi?
There is one drug called Zavesca (Migulstat) that is in the second phase of a clinical trial. Zavesca is the only drug currently recognized to “possibly” provide benefits to Niemann Pick Type C patients. The drug has been approved in the European Union but not yet the United States. Zavesca is used to treat Gaucher’s disease and was approved by our insurance company “off label” to treat Addi and Cassi. Off-label use is the practice of prescribing drugs for a purpose outside the scope of the drug’s originally approved label. It costs approximately $160,000 a year to have Addi and Cassi on Zavesca.

In April 2009, the U.S. Food and Drug Administration (FDA) granted special permission under its “compassionate use” program for Addi and Cassi to receive intravenous infusions of 2-hydroxypropyl-β-cyclodextrin, a non toxic sugar compound. Addi and Cassi are the first children in the United States to receive experimental treatment with this compound and are currently undergoing treatment at Renown Regional Medical Center in Reno, Nevada.

How do you get the drug Zavesca?
Blue Cross approved Addi and Cassi for off label use of Zavesca. Insurance companies make the decisions to provide this drug on a case by case basis. We receive Zavesca each month through the mail from Curascript, the only provider of the drug in United States.

How do you get Cyclodextrin?
Cyclodextrin is not a controlled substance and it can be obtained. We have created and submitted a special treatment protocol to the FDA in order to give Addi and Cassi cyclodextrin treatments in a hospital setting. A company called CTD, Inc. in Florida is a supplier of various cyclodextrins in the United States.

How is Addi and Cassi current health?
The girls are “hanging in there” as we like to say. They currently have enlarged spleens and mildly enlarged livers which are not causing many issues at the moment. They exhibit a number neurological symptoms and are having difficulty with gross and fine motor skills. Their ability to speak has been lost but they are still walking and recognize us. They are very loving and affectionate little girls and we are incredibly blessed to have them in our lives.

Do Addi and Cassi know they have Niemann Pick Type C?
No. Addi and Cassi do not understand they are sick and we are working on keeping our lives as normal as possible for as long as possible.

What is the progression of the disease? Does NPC move slowly in some and more rapidly in others?
Niemann Pick Type C disease acts differently in all people and doctors are unable at this time to give us any indication of how fast the disease will progress in Addi and Cassi. People who have the disease have different symptoms and rates of progression, even kids in the same family with the same genetic mutations. Addi and Cassi have early onset childhood symptoms — there are also a few cases of adult onset. NPC is most commonly a childhood illness.

Will Addi and Cassi die from NPC?
Niemann Pick Type C disease is fatal. We are doing everything in our power as parents to not let this happen to our beautiful twins. We are extremely aggressive in treating our children and have designed a strategic plan to try and stop this cholesterol disease from causing more damage. We are looking into additional experimental therapy options beyond Zavesca and Cyclodextrin.

Will diet help control Niemann Pick Type C disease?
Doctors say that diet is not considered impactful in the management of the condition but we are trying an extremely low cholesterol diet. We believe that diet does play some role in this condition. Our bodies naturally make cholesterol. The fact is people don’t need to ingest cholesterol because we all make enough cholesterol naturally to survive.

Addi and Cassi’s condition is thought to be influenced by the kind of cholesterol their bodies make naturally. For some reason the natural cholesterol they produce stays trapped inside their cells. Cholesterol accumulates and slows down cells leading to cell death. The best way to think of this is to imagine a cellular traffic jam. As this traffic jam of cholesterol occurs inside the body, it starts to cause a variety of debilitating neurological and physical problems.

How did Addi and Cassi receive their NPC diagnosis?
As we have come to find out, Niemann Pick Type C is often overlooked by doctors and children with the disease can often go undiagnosed for years. It took us close to two years to receive a diagnosis of NPC.

When Addi and Cassi turned two, they contracted a severe case of infectious mononucleosis. During an abdominal exam by our local pediatrician, she noticed that Addi and Cassi had enlarged spleens. Spleen enlargement is a common side effect of mononucleosis and at the time there was very little cause for concern. Over the next year and a half, we took Addi and Cassi to Stanford multiple times. Stanford ran a series of tests ranging from genetic testing (including Niemann Pick A and B), hematology tests and immune system deficiency tests. Nothing unusual showed up in Addi and Cassi’s blood or urine and their spleens were functioning well despite the enlargement.

When Addi and Cassi’s spleens remained enlarged for a prolonged period of time, we started getting extremely worried. We decided to seek a second opinion. More tests were conducted by Children’s Hospital Oakland. A volumetric CT scan was conducted which showed slight liver enlargement in addition to spleen enlargement in both girls. A whole series of serious lysosomal storage disorders were then tested for and ruled out.

We started noticing that Addi and Cassi were having problems with their balance and issues of “spaciness” after ingesting foods. We insisted on more genetic testing. At that time, we were told by Stanford that Addi and Cassi could possibly have Niemann Pick Type C disease.

We recommend that if your child has an enlarged spleen, they should be tested for storage disorders, including Niemann Pick Type C.

How do they test for NPC?
Testing for Niemann Pick Type C is extremely complicated. In some cases, it can take up to 3 months for an answer from DNA and molecular testing. We embarked on a different path for an answer.

Based on a recommendation by Dr. Patterson at Mayo Clinic, we were able to receive a preliminary diagnosis in10 days based on a specific kind of test conducted by electron microscopy. Since Niemann Pick Type C can’t be detected in the blood, Addi and Cassi had small skin biopsies taken from the back of their arms. We had two samples taken from each and they received a small “kitty whisker,” or stitch on their arms.

One biopsy was placed in a glutaraldehyde solution for the examination by electron microscopy which was done by Stanford’s neuropathology department. This particular test looks for intracellular inclusions (or polymorphous cytoplasmic bodies) and this test came back positive which gave us the early indication of NPC.

The second skin biospy was sent in sterile water for a cultured fibroblast study. This is cholesterol trafficking test (measuring cholesterol esterification) and free cholesterol accumulation (by filipin staining). Researchers watch the skin sample grow in a dish and see what happens with cholesterol. It can take many weeks for a cultured fibroblast result. Sometimes the skin samples do not grow requiring the testing to be redone. Another way to test for NPC is through a bone marrow aspirate to evaluate for inclusions, storage cells and sky blue histiocytes (we never had to do this).

Final determination of NPC must be made by molecular analysis (DNA testing). Because two distinct genes can cause the disease, and more than 250 mutations have been described, molecular analysis can be time consuming and can take many months as well.

What types of special therapy will Addi and Cassi need?
We will be placing Addi and Cassi in speech, physical, occupational and vision therapy (if we can find this service locally). We are currently working to add in these types of services to our daily routine in addition to their special needs school program.

Are Addi and Cassi in regular school?
Yes. Addi and Cassi attend Brown Elementary, a local elementary school and that has special needs programs. We have no idea what to expect with school or how certain medications will react in their systems. We will need to make decisions on their schooling over time. Our ultimate goal is to make life as normal as possible for Addi and Cassi.

What should I say when I see you? Do you want to talk about this?
Don’t be afraid to approach us to talk about the girls. We are not in crying mode, we are in action mode. We have made great strides over the past two years and hope is increasing everyday.

How are you coping?
As well as can be expected. We remain optimistic that we can find therapies for Niemann Pick Type C and 100% of our focus is on this goal.

Common Questions taken from addiandcassi.com

Mama called the Doctor and the Doctor said....

2010-12-17T14:33:00.000-06:00

Over the past couple of weeks Ty has not been himself. He seems to very out of it and moody. I wanted to give it some time after he last med increase but I saw no change. With the Holidays right around the corner I wanted to make sure there wasn't something going that he couldn't tell me about. On Tuesday we went to Dubuque Peds to see Dr. Kragenbrink. He checked his nose, ears, and throat which all check out good. But with Ty's inability to take deep breaths for the doctor to listen to his lungs he thought it would be best to get a chest x-ray and also check for a urinary tract infection. Again both checked out fine. So the next thing he wanted to do is run a blood panel on him to check med levels and liver function. The med levels and liver were fine but his blood sugar is high so he wants to do another blood test on Saturday morning with Ty fasting.

I am a little worried because diabetes runs in my family. I am sure it is nothing but we could use some prayers our way for our little man!!

God Bless

Thank You Rich

2010-12-08T14:56:00.004-06:00

Rich....
Tylor received your Holiday card in the mail the other day! It put a huge smile on his face. I know you follow his blog so I thought this would be a great way to say Thank You and have a wonderful Holiday Season.

Tylor also wanted to let you know that he will be back to camp next year and thinks it would be awesome if you were his counselor. See you next year!!
God Bless

Feeling Creative??

2010-12-08T14:46:00.006-06:00

Got a cool bracelet idea?

Want to make a difference?

It’s easy to help show support for kids suffering from rare disease and disorders!

The Global Genes Project (GGP) volunteer team is collecting blue jean/denim inspired bracelets for families living with rare disease, the campaign is called “7,000 Bracelets for Hope.”

To help raise awareness we’re asking 7,000 jewelry designers, volunteers from the craft community and various artists to donate one bracelet to this campaign to show their support for kids living with rare disease, disorders or conditions. These bracelets will then be distributed to participating families in February 2011.

24701 La Plaza, Suite 201 Dana Point, CA 92629

HOW TO PARTICIPATE

General Help
(1) Pass-along the details to families you know who have a child with a rare disease and disorder.

(2) Ask jewelry designers, artists, crafters, scouting groups, school groups, church groups, etc. to
donate/submit a bracelet along with a personal note of support and encouragement. For example, "A little token of support to let you know you are being thought of."

(3) Post the 7,000 Bracelets for Hope badge/logo on your website.

(4) Volunteer to be a part of the Global Genes Project team. We need everyone’s help to make this campaign a success.

(5) Bracelet Donations can be sent to Children’s Rare Disease Network,
24701 La Plaza – Suite 201, Dana Point, CA 92629

And Don’t Forget to register your contribution so that we know who to thank, and how to contact you!

Parents with children who have rare disease can sign-up to participate, it’s easy!
Simply fill out the form with your contact information. In February, families will receive a very special denim/blue jean inspired bracelet from one of our bracelet designer/contributors to wear with pride.

Designers and crafters can sign-up to participate!
Provide us with your contact and product information, we will provide you information on where to ship your design.Your product link will be listed and there will be additional opportunities to promote your designs within the Global Genes community.

Anyone can make a bracelet, we are creating an easy way to show support for these children and their families affected by rare disease and disorders! Thanks for making a difference today!

God Bless

Tis the Season

2010-12-08T14:30:00.001-06:00

Tylor has been busy getting ready for the Holiday Season! Last Saturday the scent of ginger bread cookies filled the air. Janelle and I assembled a ginger bread house for Ty to decorate. After the house was put together and dried...Ty decorated it with a ton of gum drops, gum balls, peppermint wheels, candy canes, and gummy worms. He ate more of the gummy worms than he put on the house though!!! He caves every time there are gummies around.

Ty kneading the frosting

Janelle and Ty decorating the tree

Ty and Ray (a.k.a Eddy) giving me a thumbs up

The finished product....he did a great job!

On Sunday we had a small snowball fight or should I say he got me right in the side of the head!!! Ray gave him a snowball and he didn't even hesitate, there was no getting out of the way for that one!! Thanks Ray. Tylor laughed about that all day.

Time to cuddle by the warm fire

My cuddle bug

And to top off the weekend Tylor is now riding in style. Sy and Ray thought Tylor would enjoy riding in Rudolph. I'm not too sure about it but I guess it will have to stay until Christmas...What do you think?

Won't you guide my sled tonight??

God Bless

Meet Kaiden

2010-12-08T14:03:00.000-06:00

We met Kaiden and Sharla in Seattle for the 2009 Niemann Pick Family Conference. Kaiden was recently featured on Fox News. He has been seen by Dr. William Gahl at National Institutes of Health in Maryland. Please see Power Player Plus by Fox News to hear how Dr. Gahl is helping patients with undiagnosed diseases.

Let It Snow, Let It Snow, Let It Snow....

2010-12-04T09:30:00.000-06:00

Even though I hate winter in Iowa, I love the first snow fall of the year. And boy did we get hit! It started on Friday around 4pm and is still going. We have over 6 inches of snow!! Tylor wanted to go out in the snow so we suited him up and headed outside. We have about 6 inches right now and it is still snowing. He told me he wanted to have a snowball fight later today! We may just have to do that...

Tylor giving the snow a thumbs down