FAMILY RAISES MONEY FOR
DOCTOR EDUCATION

In April 2008 we learned that our 3 year old daughter, Jordyn, was diagnosed with Shwachman Diamond Syndrome (SDS). Like many SDS families our journey to diagnosis was long as we found the knowledge among the medical community was lacking. Dealing with the diagnosis of SDS has been more than difficult. I was in need of a way to channel my emotions effectively; and so my mission began…

Our story spans nearly three years and begins like so many of your own. We knew there was a problem when I was 17 weeks pregnant, and at that time it was determined there was Intrauterine Growth Restriction due to a failing placenta. After countless ultrasounds and fetal non-stress tests twice weekly, I gave birth at 38 ½ weeks to the most beautiful five pound baby girl.

Many unexplained symptoms started early on, and Jordyn was tested for everything from Downs Syndrome to Cystic Fibrosis. We saw Gastroenterology for her pancreatic insufficiency and Infectious Disease for her immune deficiency. Each symptom continued to be treated separately.

I was a frustrated mother determined to find the answers, and with the help of Google, that’s exactly what I did. When her symptoms were “Googled” together, Shwachman Diamond Syndrome was the first thing I read. I quickly printed what I found; comparing it to Jordyn’s medical record and making my own notes. I took that information and my notes promptly to her Infectious Disease specialist, Michael Ryan DO, a physician with 33 years of pediatric experience. We sat and reviewed my notes with Jordyn’s chart and finally my concerns were validated. For the first time in Jordyn’s life I felt like we were moving in the right direction. Shortly after a referral to The Children’s Hospital of Philadelphia, Jordyn had an SDS diagnosis.

Our local healthcare facility, Geisinger Health System, is one of the nation’s leading fully integrated health services organizations. Founded in 1915, this organization serves more than two million residents throughout central and northeastern Pennsylvania. And though it employs more than 100 pediatric physicians and specialists, through no fault of their own, no one has enough knowledge on Shwachman Diamond Syndrome to make a diagnosis. This is a large facility and the physicians are eager to learn.

As a mother of child with a devastating disease the lack of knowledge is unacceptable. Too many families travel way too far to receive appropriate care for their SDS child. It wasn’t until July, when I was homebound with a bout of chicken pox, that my ideas started to come together and my goal was determined…to raise enough money to send two Geisinger pediatric specialists to the 5th International Congress on Shwachman Diamond Syndrome scheduled to meet in June 2009 in Amsterdam. Along with the help and support of family and friends, as well as Dr. Ryan, Chairman of Pediatrics at Geisinger’s Janet Weis Children’s Hospital, I am now planning numerous fund raising events in the upcoming months including a 5K Run/Walk and a Benefit Dinner. Geisinger has even set up a fund specifically for the education of Shwachman Diamond Syndrome. The support and generosity from our community thus far has been heartwarming.

Education in itself is invaluable. SDS education is invaluable to these children and their families. The benefits to the community are endless; from reaching diagnosis early on to receiving care close to home. Too little is known. I plan to spread the word; to encourage education for the doctors at Geisinger with the hope of sparking an interest. Because with interest comes research and with research I am confident a cure will be found.

By Kim Zajac, Pennsyvania