Our sweet boy James just turned 5 years old. He was an easy baby, very passive. We didn't notice any delay until we ended up at BC Children's Hospital for a shaky eye at nine months old. With an unusual diagnosis of Spasmus Nutans in only one eye, we were sent to Neurology. They found some milestone delays and immediately admitted us for a CT scan which came back inconclusive. We had three possibilities at this stage; a brain tumor, cerebral palsy or a ‘1 in a million’ genetic mutation.
By the age of one we noticed we were missing many milestones; crawling, walking and talking. We had an MRI at this stage which seemed to rule out a brain tumor – this sounds like good news but the remaining options were very daunting. A brain tumor could possibly be treated and he could make a complete recovery, but now we were left with cerebral palsy or a genetic mutation. A good friend of the family had mentioned Angelman’s syndrome, as James had the majority of the symptoms.
We tried to get on a genetics study under a Cerebral Palsy funded program but failed, we didn’t meet the criteria. All the time we were missing more and more milestones. We eventually got on another study and in December 2019 when James was almost 4 we were told the result, Syngap1. We were told there is no treatment, no cure and that any medication would be to treat symptoms like epilepsy. They explained how rare it was and we would be ‘writing the book as we go, for others’.
At this stage I can’t clearly explain how we felt; probably the strongest feeling was protection toward James. The answers had changed a lot about the future and set our expectations but they didn’t change how we felt about him. We knew James and James knew us. We had to gather our strength and do this. It took most of the following year to absorb the gravity of the diagnosis. A year with COVID and lockdowns, absence of help and therapy.
So, the light at the end of the tunnel? James!
James is the sweetest, most gentle, kind, soft person. He tries extremely hard to do things and his determination to push himself is truly amazing. He is such a genuine soul. He will let you know if he likes (or does not!) like something. If James laughs - you absolutely made him laugh. If James touches or cuddles you - he absolutely felt an attraction to you. He is not capable of fake. It is an absolute delight to have such honesty in our lives. I cannot express how much we love him, for him.
A few days before his 4th birthday he took his first steps. He needs AFO’s to achieve this but it is wonderful! We celebrate his achievements at his pace. A milestone is a milestone and time doesn’t matter. His achievements are real breakthroughs. A few days a year James says “Dad” or “Mom” or what we think is “what’s that” – it sounds like “w sat”. We love hearing his gentle soft voice. We appreciate how much effort it takes his brain to line everything up to speak and know it may be six months until we hear it again.
Since he started walking about a year ago, we had half rise steps put in our house so he could enjoy more freedom and access more of our house. He has now learned to go up and down those stairs and we think he saw it as a challenge! Syngapians have memory issues and I’m sure that although it takes a while for him to remember something, when he does, he guards those memories as real treasures.
His favorite place to be is snuggled up with his Dad...cheek to cheek. He is truly a beautiful soul.