Relax, they're just fever seizures

The seizures began when he was 13 months old and it completely blindsided us. To see your child turn shades of blue, foam at the mouth and shake uncontrollably while you look on, completely useless, is terrifying. I had no idea what was going on and the doctors told us that it was likely just a febrile seizure. He had 2 more in the emergency room and 3 more after they admitted us, the last one lasted 10 minutes. After running a gamut of tests, including spinal tap and CT scan of his brain, they found nothing and the neurologist labeled the seizures as febrile and discharged us. "Don't worry, they're common in young children, he'll grow out of it".

The seizures came back with a vengeance in December. We had a series in mid-December, then more between Christmas & New Years followed by a 6 minute seizure at home in early January. By then it was agreed that his seizures weren't just infection related and he was put on medication and an MRI was ordered.

The MRI happened in March (thanks, wait lists!) and the results were reviewed with his neurologist. The scan showed some damage to the white matter in his brain, something they usually see with low-weight pre-term babies or with babies who may have been stressed during birth and lost oxygen (which wasn't my son's case). The damage, combined with his delays, led the neurologist to diagnose him with cerebral palsy. I was shocked, I didn't understand what cerebral palsy really was and what it meant for our little boy.

One month later, when our son was 19 months old, we saw the metabolics team at our childrens' hospital. We knew that his MRI/MRS showed an absence of creatine but we didn't know what that meant. Our neurologist at the time said that it was unlikely that he had a creatine deficiency (we've since changed neurologists). After consulting Dr. Google we determined that it wasn't anything to worry about, not something that could happen to us. Creatine deficiencies are very rare, those affected usual have some level of intellectual disability, severe speech & language problems, autistic-like behaviours and so on. There was no way our son had this metabolic disease. Sure, he was a bit behind and didn't have any words but he'd most likely catch up, right? I was absolutely convinced that this meeting would turn out to be nothing.

Imagine my surprise when we were led to a private room where four professionals greeted us and proceeded to tell us that our son had Creatine Transporter Deficiency. I didn't understand how or why he could have this rare metabolic disease and I didn't (and still don't) understand what this means for my child. Will he be a kid who might need extra help in math class or will he be a kid who won't be going to math class? I think I know the answer but since I don't have a crystal ball and don't happen to know of anyone in possession of one (do you?) I'm just going to focus on the here and now.