Birth Date - March 11, 2004
Main Diagnosis - Nonketotic Hyperglycinemia
THEME: Under the Sea
Thomas was born in March of 2004 at New England Medical Center. He
was so beautiful and everything seemed so perfect….except he was diagnosed with
Cardiac issues. He slept a lot and had frequent infections. Feedings were very
difficult, bordering on impossible. We spent so many days in and out of the
hospital. The doctors first explained the lack of weight gain, weakness, and
feeding issues on his cardiac issue. WE KNEW IT WAS MORE THAN THAT. We were
working with a GI team, Cardiac team, Immunologist, Physical therapist, Feeding
specialist, and Occupational Specialist, with no success and no answers.
It took many years of misdiagnoses. Before They noticed that since birth Thomas
had high levels of glycine and were told that our son may have Non-Ketotic
Hyperglycinemia. Thomas’ blood work was then sent to Colorado where it went
through DNA genetic testing. Five long weeks later we got the devastating call
telling us they were confirming the diagnosis of NKH. This is where our journey
Thomas also has a condition called Primary Immune Disease. Primary Immune
Disease requires bi-weekly infusions of a medication to give him a temporary
immune system. However because Thomas has NKH he can not have the necessary
treatments for his Primary Immune Disease because they contain glycine and could
have catastrophic results. Thomas is the only child known in the medical
community to have both NKH and Primary Immune Disease. There are no cures and
only a few treatment options for NKH and these are really just “band-aids”.
No parent wants to learn that their child suffers from a rare, devastating,
incurable disease. The first three months after diagnosis were spent reading
about this disease and talking to other families. It was scary to find out, not
only, how few children live with this but how little is really known about it.
We spoke with Dr. VanHove , a genetic specialist in Colorado.Less than 200
children in the United States have been diagnosed with NKH.
Thomas is now 7 years old, and given the devastating truth of his illness and
what we have been through, we consider ourselves fortunate and blessed to have
him be at age 7. Thomas is bright, beautiful, has a wonderful sense of humor,
but most of all he has a strong spirit. But, he is still only a child. It takes
a certain human being to go through something as difficult as this and Thomas is
one of those rare human beings.
Thomas spends alot of time sick and it has been a hard road for him and our