Levi was born in June of 2011. As far as we knew, a healthy and strong baby, making us the proud, first-time parents. Things seemed to be going fine – a month into life he was smiling and meeting those first milestones. That tapered off as time went on, and he fell so far behind other babies his age. He could not sit up without immediately toppling over, he never became mobile, and he was so extremely quiet. He would cry, it seemed like ALL. THE. TIME. But he would never coo or babble like babies do when they find their voice. He needed to be held, comforted, and nursed constantly. It’s hard to allow myself to go back to these days. It is always a what-could-have-been, what-should-have-been.
Levi had his newborn screening done and passed all the tests. What we didn’t know, was there was another test that could have so easily been given that he would not have passed, and we could have started the easy treatment immediately to give him a quality life with no delays in growth. We did not get that though, and this is our story – his story.
At 12 months old he was referred for early intervention and started receiving help weekly from speech, occupational, and physical therapists. He was still only eating baby food, could not feed himself, and had little to no muscle tone. He was so floppy.
At 15 months old, Levi had his first seizure. He went completely lifeless and his lips turned blue. We thought we were watching our baby die in our arms. As the ambulance drove us to the local hospital, they informed us it had most likely been a seizure and it can be common in babies when they get sick. I knew this was the start of something serious for us though, and not a febrile seizure. We were in complete shock and stunned with fear as to how to go on and when the next one would hit.
It wasn’t long that we had to wait – less than 24 hours. This began the testing, doctors, and Primary Children’s stage of life. This place and these people are truly amazing, but in hindsight, it could have been avoided. At least this part. We were admitted to the hospital, so Levi could have a battery of tests done to try to get an answer to the sudden and unexplained seizures. EEG, EKG, MRI, they all came back “NORMAL.” Because it was seizures that had sent us there, we were seen by neurology and it was determined Levi must have epilepsy and he was put on anti-seizure medication.
The medicine did not seem to help, and each time he had a seizure I would document the time of day and activity. When we were at our pediatrician’s office one day, I handed her the list of seizures. She was immediately able to connect the dots with each seizure as a metabolic issue. Each time he seized there was a temperature change – getting out of the tub, diaper change, swimming, going from indoors to out, etc.
Levi was immediately referred to the genetics department at Primary Children’s. At 18 months old he was given a blood and urine test that correctly diagnosed him with Guanidinoacetate Methyltransferase Deficiency- GAMT for short. We learned that day that Levi’s body does not make creatine as everyone else does. He now takes oral supplements each day to give his brain what it needs to function, but he could have had this from birth, had it been included in the newborn screening panel. Had treatment started at birth, Levi would be a normal 7-year-old boy. We have had further testing done, and he shows no signs of brain damage, but he lacks picking up on social cues from others, has some autistic tendencies, and his hand strength/fine motor skills still struggle.
There are so many times I wonder what is just Levi and his personality, and what is GAMT related? We will always wonder and question this because of the late diagnosis and length of time his brain went without the needed creatine. Levi is an exceptional case, and we have been told this many times. With the age of his diagnosis and the rate at which he has improved in his functions, he is really amazing, but there is always a what-could-have and what-should-have been.
Fast-forward to summer 2015, Utah became the first state to recognize the importance of early detection of GAMT Deficiency and began screening all newborns for this disorder. While our family wishes it would have begun in 2011, we are also excited for those families that will be helped by this addition and not experience the same heartache. A big thank you to the Utah Newborn Screening Program for adding GAMT to their routine screening.