Living With Conditions Advocating for a Better System

This family story was collected as a part of the Newborn Screening Family Education Program*, a program of Expecting Health, that is dedicated to developing opportunities for all families to learn about newborn screening.

“You need to know how serious this is.  We don’t expect to lose Elliott to this, but you need to know that we could.”  Those are words that no parent ever wants to hear.  However, in July of 2018, this was our reality.  This was when our bubbly, full of life, and happy son Elliott, who was 2 ½ at the time, was suddenly fighting for his life.  Elliott had been having seizures that we would soon find out were a result of extensive clotting throughout his brain, which had also resulted in a stroke.  It would be 11 days after entering the ICU that we would find out the cause: Homocystinuria.  A blood test during our hospital stay showed that Elliott’s homocysteine level was dangerously high, and this was the reason that Elliott was suffering from blood clots.  Immediately, we began treatment (a low protein diet, vitamins B6, B12 and folate) and medical formula, along with a Heparin drip to help prevent further clotting.  As grateful as we were for a diagnosis, Elliott was far from out of the woods.  It would take intensive Physical & Occupational therapy as well as frequent follow ups from Neurology, Neurosurgery, Hematology, Ophthalmology, Dieticians and Genetics before we began to see Elliott come back to life.

We now know that my husband and I are both carriers for this rare metabolic disorder, and that Elliott was missed at newborn screening.  His methionine level at the time of the screening was 44.46, and the cut off in South Carolina is 65.  Had there been a more sensitive test, or the opportunity for a secondary or follow up test, Elliott could’ve been identified at birth, and we could have avoided a lot of suffering.   I don’t like to live life with “what if’s”, but I often find myself wondering how differently things may have turned out for Elliott and for our family if we had known in the beginning that Elliott had a serious condition.  We could’ve prepared.  We could’ve given him the medications that he needed. We could’ve avoided almost losing him.

While our family is grateful for newborn screening, we also hope to see changes in the system that allow for more babies to be identified and diagnosed at birth.  We have become advocates for our son and for so many others like Elliott, who have genetic conditions, but that are not caught at birth.  It is our hope that continuous review of the newborn screening system, along with improvements, be made so that no other family has to experience the pain of almost losing a child.

By Liz C.