Start: Aug 16, 2018 - End: Sep 30, 2018
It’s Henry’s 2nd Birthday! We are asking that people read Henry’s story and consider supporting this fund, which will benefit the dup15q Alliance and their ability to help fund research and support for families and people with duplicate 15q syndrome. (We have a great t-shirt if you scroll down the Fund Page that will help us spread awareness!) 40% of all product purchases will benefit this fund and ALL cash donations.
In April, 2018, Henry was diagnosed with interstitial Duplicate 15q syndrome, which is a rare syndrome caused by a duplicated piece of genetic material on his 15th chromosome.
Receiving this diagnosis was terrifying and overwhelming, to say the least, but it did give us an explanation to what we had been seeing with Henry. We noticed early on that Henry was delayed developmentally. He didn’t roll over, sit up, or crawl on track with his same age peers. He was delayed in his eating of solid foods and self feeding. Henry had esotropia in his left eye, which required patching and eventual surgery. We had been doing physical and occupational therapies, and while he was making gains, he wasn’t progressing as fast as we would have liked. That’s when his pediatrician referred us to do a chromosomal micro-array test, and and MRI. It was the chromosomal test that led to our diagnosis.
After we received the call from the genetic counselor, Lee and I spent hours researching and reading everything we could find, however, because of the rarity of this syndrome, there wasn’t much information. We scheduled appointments with Henry’s genetic counselor, and his pediatrician, but no one had many answers for us. As we kept digging, we realized that there just isn’t that much known about this syndrome. We found that there is a wide range of severity of symptoms in people with dup15q syndrome, and that no two people with this diagnosis will present in the same way.
We are fortunate that for now, Henry’s symptoms are relatively mild. Henry has wonderful physicians that have been diligent in helping him get the testing and services that he needs. His therapists are amazing. They have worked so hard to push Henry to make progress every week. We have great health insurance they pays for a lot of the services that he requires. Lee and I are lucky to have employers that are supportive and flexible. Overall, we are lucky. But, not every family that has received this diagnosis is as fortunate as us. That is where this fund comes in.
At this point, there are only 9 clinics in the U.S. that have specialists for dup15q syndrome. There is very little research being done. Treatments are expensive, and can be hard to get depending on where you live. Lee and I want to help the Dup15q Alliance support research for dup15q syndrome and help other families who may be struggling to get their kids the services they need.
The following link has additional information on duplicate 15q syndrome and what the Alliance does to support those affected.
Thank you all for reading our story
Brandi and Lee
Fund Leader: Brandi Viter-Pitlik
Fund Type: Non-profit Organizations, Medical Causes