To our brothers and sisters in Christ here at Zion,
About five years ago, our son Zachary began to have trouble walking. His neurologist diagnosed him with ataxia, which is a general term for walking difficulty. He began to run a series of tests, all of which failed to find a root cause for the issue. He learned of a new test called an SNP Array, which was very expensive but would likely provide some answers. Our insurance denied the test as not medically necessary.
He referred us to a friend and colleague of his at Children’s Hospital of Philadelphia, who confirmed the ataxia diagnosis. He too tried to get the SNP array done but again our insurance denied it.
Zach’s neurologist then sent us to Penn State Hershey Medical Center, where he had many colleagues as he is the former head of pediatric neurology. Again Zach’s diagnosis of ataxia was confirmed and again the SNP array test was sought. This time our insurance agreed to pay for the test in full.
Blood was drawn and sent to a genetics lab in Gaithersburg, Maryland. Now we waited. On Monday, August 17, we met with a genetics doctor and counselor at Hershey Medical Center to receive the results for Zachary’s genetic test. We learned that Zach is one of about 50 known cases in the world of a condition known as Chromosome 17p13.3, Centromeric, Duplication Syndrome. In a nutshell, there is too much genetic material on his 17th chromosome. As there are so few known cases, there is very little known about this syndrome. What doctors do know at this point is that it appears to be the cause for Zach’s autism, ataxia, poor muscle tone and several other issues. There is no known cure but to date it has not been life-threatening.
There will be more testing and examination ahead over the next several years as the medical community seeks to know more about this condition. I told Zach as we were leaving the hospital that he was a pioneer. We were going to break into new territory and learn new things and those who come behind us will find help because of all that we have endured.
So on behalf of my family, my wife Michelle and my sons Nathaniel and Zachary, I say thank you for all of our prayers, support, love and encouragement over these past few years. You all have been a part of this journey and you all played a part in our story.