February 19, 2012

You gotten check this out

I just checked out Tylor's blog from Jill, his Step Mom.  She got some great pictures of Tylor and his little brother Drew.....


3 on 3 Basketball

A few weeks ago Tylor had his Special Oympics 3 on 3 basketball tournment. He had so much fun...here are some pictures.

Warm up time

My fan club

I love my siblings

Pictures of Ty Bug

Here are some pictures of Tylor over the last past few months...sorry it took me so long.

Tylor and the Big Guy at NIH

Ty's Gingerbread Man...Great Job buddy

Jill, Tylor, and Me at the end of our trip at NIH

Tylor waiting for his next appointment

The peds neurologist

Tylor enjoying his art and craft time

Tylor with the Children's Inn service dog.

Image of Tylor's swallow study

Sleeping before the MRI, spinal tap, and skin biopsie

Tylor's tubes for all the blood they had to draw. (NPC 60)

Nicole starting Tylor's IV...he actually slept through it.

Breaking out for a little walk between appointments

Gingerbread house contest

This was one of our favorites

February 7, 2012

World Rare Disease Day-Meet Alejandra

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

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

World Rare Disease Day-Meet Anna

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

World Rare Disease Day-Meet the Wilson Brothers

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

World Rare Disease Day

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

It's Been Forever!!!

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.