Glutaric aciduria type 1 (GA1)
This is a personal story shared by a family whose child has GA-I.
Joey’s conception was deliberate, a Valentine’s Day gift to each other. Joey’s father and I really wanted a son. So, we were overjoyed to learn that our single attempt succeeded and by mid- March of 1998 we knew we were pregnant. In my prayer life, I sensed I would have a son, and that his name should be Josias. I looked in the bible and read the story of Josiah and found that the bible figure had been responsible for restoring true worship in the house of God. I knew that somehow, in some way, Josias would do the same. However, there was much heartbreak and a lot of changes before I knew what Joey’s destiny would achieve.
In the first 6 months of life Joey grew and developed normally. His pediatric visits were smooth and complimentary; our hearts were filled with adoration. We were a happy family, his sister, Mercy, loved him with all her heart and we anticipated father/son wrestling matches, football games and all the strength and energy health brings. By 6 months we saw that he was not quite as energetic or ambitious as other babies his age. Looking back I see it much clearer of course, but we were told not to worry, and that children develop differently. I was determined no to compare Josias to his sister to other children. In July of 1999 though, we were slapped in the face with the facts. This is the reason I advocate newborn screening so strongly. No parent or loving relative should ever have to feel the immense heartache and confusion we have felt. After a brief cold, we took Joey to our family doctor. He lifted Joey by the arms and told me something was seriously wrong with him. I was completely shocked and amazed, even skepticalm as our doctor gravely instructed me to run, not walk to Children’s Medical Center and have him examined there.
We did as we were told, fighting to keep our heads together, but all sense of peace and hope was destroyed when we entered the exam room. I had never seen doctors so intense. Soon they were running every test, taking samples of every fluid, including a spinal tap. I was lost in the flurry of motherly feelings, confusion and the dance of the doctors and nurses, baffled at how something so evidently serious could occur without my knowledge. But it was happening. Over the next week the truth unraveled. Joey worsened and had a short cycle of seizing, gagging or vomiting, then sleeping. He was lethargic and noticeably distant. When the results from the MRI came back it showed considerable brain damage. Joey lost his suck, and feedings for the first time became a concern. At the end of our hellish week I was told that Joey would be sent home. I shook with fear at the prospect of taking him home not knowing why he was sick, what the cause was or how to care for him. Luckily, the metabolic team entered the room and announced that they had a diagnosis and that we would be staying until I was trained to care for him and he was stable.
The rest of the news was terrifying to say the least, and much of it fell on the cushioned ears of a heartbroken mother. I was concentrating on the good news, of a found cause. A found cause meant a plan of care, a plan of care meant recovery. I thought, I hoped. The month to follow was shaky and painful. He required a nasogastric tube (nasal tube for feeding) before his discharge and in October had to have a g-button (stomach tube for feeding) placed. Everything happened so quickly that it felt like choppy waters flooding the shores. I wish I could say that everything was perfect, that we made no mistakes. I wish I could say our married life was not adversely affected or that everyone immediately accepted Joey and his condition and I wish I could say that everyone understands, but I can’t.
I can say though that Joey’s existence brought out a patience, hope, peace and true love, kindness, generosity and strength I never knew existed in me and in many of his loving relatives. In this way, he has fulfilled the hint I was given of Josias’ destiny, of the course led by the name he bears.
Thanks you all for reading. May we all be blessed with the focus and strength to achieve peace.
With all my heart, Tiffany Wilson
Written March 2001 by Tiffany Wilson
Josias, born November 19, 1998
Mercy, born October 10, 1996