Zachary and Grace's diagnostic footprint
After a complicated pregnancy and birth, Zachary was born with an Apgar of 9. He was seemingly a healthy (and certainly happy) baby boy.
But soon he started with what we thought were seizures. I questioned our first pediatrician who determined it was merely a startle reflex, telling me I was a nervous first-time mother. While our hearts hoped he was correct, it turned out it was far more than a startle reflex. After a 9 minute ‘episode’ where he stopped breathing and was ambulanced to the ER, the diagnostic odyssey of our children began.
In the ER, they conducted a spinal tap and CT scan. Zachary was diagnosed with partial agenesis of the corpus callosum. A follow-up EEG proved he was having seizures, and Zachary was diagnosed with epilepsy for which he was started on a cocktail of anti-convulsant medications.
By this time, we were already pregnant with Grace. Similar to my pregnancy with Zachary, the prenatal screen indicated a very high risk for Down syndrome in this pregnancy, however, the results from the amniocentesis were normal. From then on, the pregnancy went smoothly and everything indicated we would have a healthy baby girl. But the moment we laid eyes on Grace, we knew she shared the same mysterious illness as her brother. She soon started to have seizures and feeding difficulties. And, like her brother, Grace began missing developmental milestones and struggled eating.
It was clear to us that our children did not have random birth defects, but some sort of syndrome. So with a toddler who was not “toddling” and a newborn baby, we began to search for answers with various geneticists, hospitals and doctors across the country.