During my 1 year checkup my parents and pediatrician noticed I was small, and struggled to digest food. After running some tests, they came back not so good. This resulted in going to see a series of GI specialists at Lurie's Childrens Hospital in Chicago. While we lived in Chicago, my doctors at Luries thought I had autoimmune hepatits. I had to take steroids and immunosupressants for almost 2 years.
In summer of 2017 my family moved from the Chicago area to Boston so my dad could work at the corporate office. This resulted in transferring doctors from Chicago to Boston Childrens. Immediately my new doctors started asking questions about my diagnosis and drugs I was on...turns out I didn't have autoimmune hepatitis. No more immunosuppressants or steroids...those steroids did not taste good at all.
This past October 2017 my doctors at Boston Childrens confirmed from a genetic test that I had a super rare autosomal recessive genetic condition called Shwachman Diamond Syndrome. This is a bone marrow failure disease, and i am neutropenic. This is super serious because being neutropenic I can't fight infections very well. As a result any time I get a fever over 100.5 we pack a bag and head straight to the ER in Boston and I get blood tests ran. There is a chance that at some point I could need a bone marrow transplant to help with the infection. Some of my friends from Camp Sunshine over the summer already had to have a transplant. They found a match from a sibling or the registry- so please sign up for bethematch.com and get swabbed. You might be someone's match!
Also from this disease I have pancreatic insufficiency, my pancreas doesn't make all the stuff to process food, so when we eat, I have to take enzymes so i grow big and tall. At my last doctors visit I made it on the growth chart, so they must be working. So far i've been pretty healthy with the exception of a couple visits to the ER in the past year. My mommy and daddy know how important it is to live life to the fullest so we're always doing fun adventures. I love doing fun things like riding my bike, swimming, skiing, gymnastics, and driving my car around the yard.
SDS is super super rare, and being a genetic condition, right now there is no cure. I'm super thankful to be the hero for the GCP team. They've set up a fund where 90% of everything raised goes directly to research to find a cure for SDS. The rest goes to the JImmy Fund, which is great because my doctors work at the Jimmy Fund Clinic in Dana Farber. Please help me in raising money for SDS. GCP is matching 100% of all funds raised by their employees, which is awesome.
They told me I'm their hero...I'm pretty sure that means I'll get a cape.