Meet Max. Six years ago (almost seven), my life changed when he was born. He was my first child and the most amazing gift to me and my husband. When I was pregnant, everything seemed pretty normal. Clinically, the only thing that was wrong with my pregnancy was I had a single umbilical artery. It was not a major issue, except I had to have a few extra ultrasounds to ensure that the baby was developing and growing normally. In retrospect, I wonder if this was a symptom of the diagnosis we would receive a year and a half later.
Max was a seemingly healthy baby at birth. He had a healthy appetite and was growing normally. At his first few checkups, he seemed to be hitting the milestones. At six months (this picture was taken then), he started missing the milestones: he wasn’t sitting up, he wasn’t able to raise his head off the floor when he was positioned on his belly, he couldn’t roll over. He definitely wasn’t up on his hands and knees and moving around at all. The other missing milestone was the communication. He wasn’t communicating – no “mama” or “dada”. I would read the books and websites telling me how my baby should be developing, and I started to wonder if something was wrong. The doctor assured me that he would catch up.
At our 9-month checkup, Max missed 4 out of 10 milestones. He hadn’t really developed since our last visit, and he had developed a neurological tic — he would hold his hands up near his face and they would shake almost constantly when he was awake. Remembering this now brings tears to my eyes. He has come so far.
The doctor sent us to a special needs evaluation, and the doctor determined that, yes, something is wrong, but she couldn’t determine what was wrong. She ordered us to have a MRI “just to rule out anything major that could be wrong”. I remember driving to the MRI thinking that we were simply checking a box to rule out the big stuff and that we would move onto the next possibility. Instead, things went differently than I’d thought…after watching my son go under anesthesia and put into the MRI machine, I sat alone in the hospital for what felt like a day. I thought he would come back to me quickly, but I was greeted instead by the radiologist. He came out and introduced himself, and he said that he ran the MRI and noticed brain damage. He couldn’t tell why there was brain damage, so he decided to run an extra spectroscopy scan and happened to notice that Max didn’t have a creatine peak in his brain as he was looking at his amino acids. He said that he had seen this once before in his career and he was pretty sure that he knew what was wrong but he needed to wait until my doctor could see the results and provide a diagnosis. Of course I asked and pressed as much as I could, and he said that it “may be GAMT Deficiency” but we would have to wait for an official diagnosis.
Six years ago, if you googled “GAMT Deficiency” there were maybe two or three, at best, links online to information about it. When I read the information online, I was in tears. There were only around 50 cases globally reported of this, and of those, only a handful in the United States. Additionally, the outlook for my son was that he would be essentially unable to speak – would potentially only develop a vocabulary of 20 words and would need special care his whole life.
This would have been the outcome if we hadn’t had the diagnosis and if we hadn’t had the doctors we have. We have been so blessed with the treatment we have received. We immediately started seeing a geneticist, neurologist, metabolic doctor, and dietician. Two weeks after starting treatment, Max rolled over for the first time. Then, he sat up, then he crawled….and he has been improving ever since.
Here is a picture of Max today. He is a happy kid that just started first grade (along with the kids his age). He loves basketball and wants to play in the NBA someday. I wouldn’t have believed, 6 years ago, that he would be doing as well as he is today. There are plenty of challenges that we face, but the outlook is better than we thought it would be the day I “Googled” GAMT Deficiency.