“1% Chance” – Laura

GAMT is so rare, just getting diagnosed seems to be quite an ordeal. I like hearing everyone else’s journey, and having this connection. Here is our story!
Before Levi was born, I had a nervous feeling; anxiety that something was “off” but at each ultrasound things looked great and he was born a healthy baby in June of 2011. We were proud new parents and real life began for us. My instinct kept telling me something wasn’t right, but I didn’t have any proof to go off of. He smiled at one month old, was rocking the tummy time and rolling over, things were good! Levi was seen in physical therapy for torticollis, and once we worked this out I thought MAYBE this was what I had been concerned about. Although at his 9 month well baby check-up, I asked his doctor about a few of my other concerns. He had lower muscle tone, and didn’t seem like he was looking at us and interacting, more like looking through us. I was told that every child develops at their own rate and as a new mom it’s easy to compare and expect milestones to happen according to what the parenting books tell. That information just didn’t sit well with me, and I changed doctors. I was looking for someone that would LISTEN! I felt lucky that the next doctor I tried was that person. It just stunk that we had to wait so long for our appointment since we were new patients. We were able to see this pediatrician for the one year well baby visit, and I was actually heard. My concerns were validated, I felt like I could really get help. With this visit came a referral for Early Intervention. We received an occupational, physical, and speech therapist to come to our home weekly to work with Levi. We tried to strengthen his muscles so he could sit unassisted, he was only eating baby food or pureed food, could not chew or swallow any solids, and was quiet as ever. We never really heard any verbal interaction.
As a side note – this was really hard for us. Understandably it would be, but my husband and I are both educators, and on our road to our degrees we had plenty of child development courses and information about how to start a successful learning path for children at a very young age, yet here we were with the speech therapist in our home telling us if we would just talk to and read to our baby he would show great improvement in his own speech and social interactions – BURN! Although I understand his job, it was just hard that we were doing those simple things and we knew something deeper was the issue.
One day at 15 months old, Levi would not touch anything for food. I made a mental note of that and thought he would be hungry for dinner. He was unusually irritated – crying most of the day, and as I put him in his highchair for dinner he screamed and cried, refusing any food and could not calm down. The one way we could always calm him down was to take him outside. He always has been an outdoors kind of kid. My husband (Trevor) took him out to change the water in the yard and was back within seconds screaming for me to come quick. Levi was limp in his arms and his lips were turning blue. I took him and held him, begging him not to die. I was frantic waiting for the ambulance and help to arrive, but yet calm. We just didn’t know what to do, so we just hovered over him, talking to him. Once he was loaded into the ambulance and we told them everything, one of the EMT’s told me that everything I told him sounded like he had had a seizure. I was very quick to tell him no, what we witnessed was not a seizure. He went limp and turned blue. He did not convulse like what a seizure would have looked like to me, but we learned later that was exactly what had happened. We spent a long night in the E.R. doing blood tests and x-rays to try to pinpoint why this seizure happened, but everything came back normal. We were told if he had another seizure within 24 hours to call the paramedics again.
The next afternoon we found ourselves riding in an ambulance… again… to the E.R. Once we were at the hospital we felt like we had exhausted all of our resources there the previous night, and we then drove him to the local children’s hospital an hour away. There we were admitted and stayed the night for more testing. EEG, EKG, MRI, and the list goes on, but I can’t remember their names. When all the results were back we were told that Levi had epilepsy. He was put on Keppra, and we were told he should never ride a bike, swim, shower alone, drive a car and many other life achievements, in fear that he would have a seizure while doing them. We were devastated, but took it in stride as we now had some answers and could move forward with treatment. The thing was, he kept having seizures and then his dose of Keppra would increase and on and on we went for about a month.
My saving grace was documenting each time he had a seizure. I wrote the time of day, and activity that we were doing just before the seizure. When I visited with Levi’s pediatrician and told him my concerns that the Keppra was not working, I gave her the seizure list and she was able to connect the dots – each time Levi had a seizure, there was a change in temperature (going from inside to outside, right after a bath, during a diaper change or changing clothes, after swimming in the pool). She immediately referred us to the metabolic clinic and genetics for testing.
This was it! I knew it! I knew this was how we would get answers. My mom heart was put at ease and I just knew we would get him the help he needed. What I wasn’t prepared for was the phone call from scheduling telling me the soonest we could be seen was in September (it was currently December). I was shocked, and sincerely asked the poor receptionist, “we have to keep having seizures until September?” She assured me she would call with any cancellations, and my heart sank. To my surprise, she called back just minutes later telling me there had just been a cancellation for the following week.
We were seen by many people as this is a teaching hospital, but felt lucky to have so many eyes on Levi to try to figure this out. As we left the doctor that day, the geneticist told us, “There’s a one percent chance I will be calling you with any information.” They just didn’t want us to get our hopes up, but like I said earlier, I knew this was our answer. I told her I looked forward to hearing from her; not in an arrogant way, just confident this was it.
Well, we did get that one percent phone call. The doctor was ecstatic to be able to give us results, and we were thrilled for answers. I just remember her telling us how rare this diagnosis was, but we would be able to treat Levi with not medicine, but supplements and he could have a normal life. His diagnosis came when he was 17 months old. We started creatine, ornithine, and sodium benzoate once we could get all of them, and the progress in which he developed and grew can only be related as though he were drinking from a fire hose. He has made such huge advancements so quickly; it has been fun to watch!