Sophie spent years fighting for a son no one could diagnose. Then a letter arrived with six letters and a number.
Sophie Muir is the Founder of the Timothy Syndrome Alliance (TSA), a UK charity supporting families affected by CACNA1C-Related Disorders across 44 countries. A former professional turned full-time carer and advocate, she built the organisation from a kitchen table and a letter she was scared to open. She is based in the UK with her husband Nick and their three sons.
Story Transcript
“‘You there?’ I typed, hands shaking.
The 3 dots bumped up and down on the screen. I waited.
‘Yep. You ok?’
‘I gotta talk to someone medical,’ I tapped. I was messaging my doctor friend Natalie who worked at a nearby hospital, and my heart was pounding. I could feel it taking over my body getting louder and louder. Thump. thump. thump.
‘Genetic change in Calvin. Not related to his difficulties but heart related. Just opened letter and can’t get hold of Nick’
Despite being in my own kitchen I was pacing now just like you see animals do in a zoo. Back and forth, back and forth, the same line. I was feeling trapped, unable to escape. No hiding place. Exposed.
Nick’s my husband. He was at work. Me, I was at home. I’d given up my job. I was now a carer. The number of health appointments that I was having to attend with Calvin had meant I’d had no choice but to leave. Who wants to employ someone who has more time off work than their annual leave allowance? So there I was pacing in my kitchen.
My phone pinged again.
‘Has he ever had imaging of his heart?’
He hadn’t, why would he have done? All his problems had been neurological. He was 9 years old, soon to be 10. Calvin is my middle son, sandwiched between my other two boys. A little bundle of curly ginger hair with the cutest Harry Potter wire glasses and two fingers always in his mouth seeking out comfort. He’d get my attention with these ‘ah’ sounds that would make you look at him so he could communicate with his sweet little facial expressions along with pointing. He was completely dependent on me as his interpreter and without eye contact and my full attention, l’d miss his nonverbal cues. Attention from others, even family members, would often result in him going mute and withdrawing so as to avoid the pressure of a question. This meant that often I couldn’t even go to the bathroom on my own as he feared this separation. It was so hard just to get a break from it all. Just 5 minutes on my own. In the end I went back to smoking as a way to guarantee a couple of minutes silence by myself away from the boys.
Of course I knew what he was trying to communicate, most of the time. You see we both used a form of sign language called Makaton that is done alongside speech to help promote its use. I’d started learning foundation level when he was 3 and quickly moved to enhanced because he didn’t speak at all. Nothing. Just ‘ah’. I didn’t know if he was hungry or if he was thirsty. I didn’t know if he wanted to line up his toy cars or cuddle up and look at pictures in a book. I didn’t understand what he wanted. Although I did know when he needed a cuddle and to twist my hair in his fingers. It was super hard and so frustrating for him, so much so that he’d cry, he’d get angry. This was leading to outbursts from him and tears from me. The Paediatrician had even sent me on a Better Parenting course, which in reality I found super patronising but I did what was asked and produced the certificate of attendance in the hope they’d pursue other investigations as to his delays, whilst they were repeatedly saying he’d catch up and they were sure everything was fine.
I taught Calvin the signs, and the rest of the family and the nursery school in an attempt to make him fit in and for others to communicate with him. We’d sit down as a family and all watch a programme called Something Special which had a clown like character called Mr Tumble and we’d all learn new signs. Calvin loved Mr Tumble and he’d laugh and laugh through the shows, so infectious that it would set his brothers and us off laughing too. Even his Support Worker at school was Makaton trained because it turned out Calvin really didn’t start speaking words until he was around 7. By which time he called needles pins as he’d had so many stuck in him for various tests. Chromosome. Angelman syndrome. Fragile X. All negative.
Of course I’d done my fair share of late night infogoogling his symptoms too, trying to join the dots. You just know that something isn’t right. At that time, as he’d started having tics too, I thought it was possibly Tourette's syndrome but it was that not knowing that was the hardest bit. Nobody could pigeonhole it. We didn’t know what to do to make Calvin’s life as easy or productive for him as possible.
It had become more obvious as Calvin was growing that he had a wide range of challenges. I’d just spent the last 8 months battling with the education authority.
Again.
Even though the additional support Calvin had been receiving at school was full-time, the very low range scores in all his assessments showed that Calvin was floundering and couldn't access the curriculum. It was clear that he had significant needs in all cognitive areas and severely delayed and disordered development of expressive and receptive language – his extremely slow progress was not equivalent to his chronological age. The gap between Calvin and his peers was growing. Most notable was that Calvin was being ’overtaken’ by his younger brother who had just turned 4.
In the school he was in, he was not learning the way they teach. He needed to be in a specialist school that could teach the way he learns. He needed a level playing field: a school where everyone has similar difficulties.
My fight for him had made it all the way to tribunal court as they hadn’t agreed with me. I was exhausted. My brain was fried with no space to do anything but go through the motions.
But I had just found a couple of weeks ago that we’d won. Today he was enjoying his first week at a brand new special school just over an hour away, a journey he was learning to make in a taxi each day on his own. That in itself had been a hard transition for him with his anxieties but his new taxi driver was dedicated specifically for him.
If anything I was relieved to not have to do the school run anymore. Even standing in the queue at the local shop together we’d get those staring judgement eyes from those who didn’t understand what we were dealing with. What we were going though. I could now go incognito.
I looked at the letter in my hand, the results of one of the pins that had taken blood from us all 4 years ago.
‘C.A.C.N.A.1.C’
‘Wtf does that mean. Scared to google.’
Natalie got straight back. ‘Gene things are ‘associated’ but rarely causative. ie not everyone with gene has problem. I’m looking it up’
The irony. I’d just spent the most part of this calendar year fighting for my child, who didn’t have a diagnosis to get the education he deserved and here, through the post were the letters of something that could have helped me do this. An explanation of what was happening to Calvin and why. Here it was in writing, a number and a mix of letters. Something that could address all this uncertainty, anxiety and loneliness.
‘OK’ I type. ‘Can’t stop shaking’ I finish.
Natural body reaction
Silly really
Totally natural.
Fight flight fright. Adrenaline surge.
‘There’s association with a certain ‘electrical’ heart problem.’
‘It normally doesn’t cause problems but occasionally if you take another drug your heart can go into a funny rhythm.’
‘Which means it’s better to know. Then you can have preventative drugs or whatever.’
‘It looks like it’s all fairly early in research.’
What, rare?
‘Knowledge is power.’
‘And nothing about Calvin has changed. By you knowing more. If you see what I mean.’
‘He is the same now as he was before you opened the letter’
‘The same risks. And potential.’
‘But now there’s more knowledge.’
‘Which means you can have more ways to help him.’
She was right, it was a diagnosis of sorts, another step down the road. All the backwards and forwards of visits to doctors, therapists, hospitals. The following up and the battles that came with sticking up for him and fighting in his corner. Of knowing that something wasn’t right. It wasn’t. Except now — I was right. I’d been right all along. I still felt alone. But now I felt validated. And for the first time, I knew where we were going.