When Sophie Muir's son Calvin was a baby, she instinctively knew something wasn't right. 'He wasn't babbling like my eldest son had,' she recalls. 'It was frustration more than anything – and for both of us. I was constantly wondering, “Is he hungry? Is he thirsty?” and he just couldn't tell me.'
After reaching the 12-month milestone and still struggling to talk, Sophie took Calvin to her GP to investigate the delay. 'From then on, it was just appointment after appointment,' she told Metro. As Calvin's development continued to fall further behind and doctors repeatedly said 'we don't know,' the family endured endless tests, hospital visits and uncertainty.
Desperate to communicate with her little boy, Sophie taught herself and her family the sign language Makaton after watching the children's programme Something Special with Mr Tumble. 'We used to sit and watch it together and learn the signs,' she remembers. 'It was life changing. Suddenly he could tell us what he needed.'
By the time Calvin started nursery, Sophie ensured he had support from someone who could sign. 'The school even taught the other children. I've got videos of them all signing together – it was amazing.'
A long road ahead
Calvin underwent extensive testing for genetic and neurodevelopmental disorders including Fragile X and Angelman syndrome – but still no answers came. 'He had physio, speech therapy, neurology appointments – everything,' Sophie, who lives in Gloucestershire, recalls. 'I was a mechanical engineer and had to give up work because there were just too many meetings and I didn't feel like I could keep asking for time off.'
Meanwhile, her younger son Henry began to overtake Calvin developmentally. 'It was hard watching our youngest son Henry overtake Calvin,' says Sophie. 'They're best buddies and he helps with Calvin's speech, but he's four years younger, so it was still difficult.'
Eventually, Calvin's speech slowly began to develop with intensive therapy. 'It was very gradual. He'd say a word once and then never say it again,' his mum remembers. 'I remember “butterfly”, and then nothing. But slowly over time he began putting two or three words together, which was really sweet.'
When he was six, Sophie convinced doctors to enrol Calvin in the Deciphering Developmental Disorders study, a nationwide research initiative using advanced genetic technology to diagnose children with severe developmental disorders. After four years, tests revealed a change in Calvin's CACNA1C gene – critical for brain development – but doctors couldn't confirm it was causing his symptoms. 'To be told “we've found something, but it doesn't really count”, was a strange place to be in,' Sophie says.
Taking matters into their own hands
Unwilling to accept uncertainty, Sophie began searching for answers herself and travelled with Calvin to the US. Calvin also received cardiac testing, where a matchstick-sized loop recorder was implanted under his skin to monitor his heart, as the gene is linked to Long QT Syndrome.
Sophie started researching his neurological symptoms, including delayed speech, intellectual disability and hypotonia. 'I'm trained in mechanical engineering – this is not what I thought I'd be doing. But if you don't know what is going on, you can't advocate for your child,' she explains.
Trawling the internet, Sophie discovered the CACNA1C gene was linked to a rare, life-threatening disorder called Timothy syndrome, so she contacted genetic researcher Katherine Timothy, among the first to identify the disorder. Soon, she found other families with children who had variants in the CACNA1C gene. 'I found another person in the world with the exact same genetic change as Calvin – that was my 'N equals two', when things started to shift,' she remembers.
In 2017, Sophie joined another study called Imagine ID, working with researchers in Cardiff. Armed with fresh knowledge, she pushed for a reclassification of her son's condition. It took another five years for Calvin to finally be diagnosed with a pathogenic variant of the syndrome. 'It was a relief,' admits Sophie, 'but also, I knew I was right. It had taken so much work to prove it.'
What is the CACNA1C gene?
The CACNA1C gene provides instructions for a protein that controls calcium flow into cells. Variants can disrupt this process, potentially leading to heart problems, developmental delay and neurological issues.
One step at a time
Now 18, Calvin has learned to form short phrases and uses visual aids to communicate. 'His expressive language is still delayed,' Sophie adds. 'He uses picture cards and routines as it just makes life easier for him.' Calvin has also been diagnosed with apraxia of speech, a condition affecting the brain's ability to plan speech movements.
Looking back, Sophie admits Calvin's condition impacted family life. 'Sometimes his brother struggled and we couldn't do what other families did. Going to the cinema or out for meals just wasn't possible.' Despite this, Calvin's two brothers have grown into compassionate individuals. 'They're amazing with him. I think it's made them more understanding of other people's needs.'
Today, Calvin attends a specialist college where he works outdoors on a farm, which he 'loves,' says Sophie. 'He helps with animals, collects eggs, works with fish – it's the most amazing place.' But his condition still affects daily life. 'He's quite vulnerable. He doesn't understand danger. I wouldn't let him cross the road alone.'
Now that Calvin is legally an adult, the family faces new challenges. 'We're having to look at capacity assessments because he doesn't understand things like online safety. That's a whole new world to navigate.' Sophie also admits she struggled and felt incredibly lonely. 'I used to cry in the shower. It was the only place you could hide the tears.'
Feeling isolated, in 2019 she founded the Timothy Syndrome Alliance, bringing together families affected by CACNA1C-Related Disorders. At the time, only 43 people living with the condition were known worldwide. Today, the charity supports more than 250 families across 43 countries. 'We're finding a new family every week,' says Sophie. 'I don't think too far ahead. There are too many unknowns – but I want families to know they're not alone. There's a huge comfort in speaking to someone who understands. This isn't what I planned in life, but I can see we're making a difference – and that means everything.'
