December 7, 2011

Another NIH Update

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!

December 5, 2011

NIH Update

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.

November 5, 2011

NPC claims the life of a special boy

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

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.


The TRND Team

Where did the time go?

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

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.

October 11, 2011

Hope, Courage, and Strength


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 Ty gave him a ride

Walkin' 4 Tylor 2011

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

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

October 1, 2011

Niemann Pick Awareness Month

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 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

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!

September 28, 2011


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

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

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.

September 18, 2011

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

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

September 17, 2011

15 ALREADY!!!!

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


Tylor and his little brother Drew

Sorry Ty it didn't survive

Little piggy

NNPDF Family Conference 2011

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