A rare diagnosis, purple buildings, and a little girl’s laughter: how one Dorset family is championing hope for children with CHAMP1
Every 20th March, landmarks around the world light up purple to mark CHAMP1 Awareness Day – a chance to raise the profile of an ultra-rare genetic condition that affects only 220 people worldwide. Incredibly, two of them live right here in Dorset.
Six-year-old Sienna Hutchings was born in April 2019, but her journey with CHAMP1 began long before her arrival. At a 12-week scan, her parents were told there was excess fluid behind her neck – an early warning sign of a potential genetic condition. It was terrifying, her father Scott remembers: ‘Doctors suspected one of three conditions, two of which were life-limiting. We were heartbroken.’
Further tests eventually ruled them out. ‘We felt a huge sense of relief,’ says Scott, ‘but something inside us still wondered if everything really was truly okay.’
Sienna arrived in a hurry at 38 weeks. At first, there seemed no cause for concern – ‘Other than a slightly small head, she seemed perfect,’ says Scott. ‘But by two months old, we noticed she struggled to turn her head. She started physiotherapy and made great progress, but then she began missing milestones. While other babies were rolling, sitting and crawling, Sienna wasn’t. No one could tell us why, and the uncertainty was heartbreaking.’
A diagnosis of Global Developmental Delay just before Sienna’s first birthday eventually opened the door to therapists and specialists. But it wasn’t until genome sequencing that her family finally got the answer: CHAMP1 disorder. ‘It came out of the blue in a letter,’ says Scott, ‘just a bunch of numbers, letters… and the words CHAMP1 disorder.’
Right order, wrong time
The diagnosis brought relief, but also isolation. With only 17 known cases in the UK at the time, information was scarce. Then the family found the global CHAMP1 community online. ‘Connecting with other families who truly understood what we were going through was life-changing,’ Scott says.
One of those connections was especially meaningful. ‘Even though there are only 220 CHAMPs in the world, incredibly, we have two in Dorset,’ says Scott. ‘Jack, a young man with CHAMP1, and his parents Mark and Mary, have been an amazing source of information. They’re almost like adopted grandparents to Sienna. Meeting them in person for the first time was such an emotional event. It brought back so many memories for them from when Jack was young.’
Today, Sienna is thriving. She’s chatty, loves music and dancing, and has the most infectious laugh. ‘She proves us wrong time and time again,’ Scott says proudly. ‘She does everything in the right order, just in the wrong time.’
Determined to support other families, Scott and his wife founded CHAMP1 UK in 2022. ‘We wanted to raise awareness, provide support and fund research into CHAMP1 disorders. Most importantly, though, we wanted to make sure that no family ever feels as lost and alone as we did. Now, we’re helping build a community where families can find the help, guidance and hope they need.’
The family has thrown themselves into fundraising, taking on challenges like the Dorset Plane Pull, the Salty Sea Dog Triathlon, and Europe’s Toughest Mudder – all to raise vital funds for CHAMP1 UK. ‘This year, I’ll be running a 70-mile ultra-marathon in June,’ says Scott, ‘followed two weeks later by the World’s Toughest Mudder.’
CHAMP1 Awareness Day
Every year on March 20th, the CHAMP1 community comes together to turn the world purple in honour of CHAMP1 Awareness Day. ‘From landmarks lighting up to people wearing purple, it’s our chance to raise awareness for this ultra-rare condition,’ says Scott. ‘We want to ensure more families, researchers and medical professionals learn about CHAMP1 disorders. ‘Sienna is our inspiration, our CHAMP1ON. We’re determined to make a difference for others just like her.’
