Early diagnosis of a rare genetic condition allowed Joe’s family to get him the support he needed to thrive. Cambridge Children’s Hospital will embed genomics research into the heart of the hospital, working to improve outcomes for children with rare and complex conditions.
You name it, Joe does it. Swimming. Cubs. Drama. Playing manhunt with his older brother, Ben. Cycling his trike around their village near Cambridge, with the family dog Bonny in the basket. She is the centre of Joe’s world, a toffee-coloured bundle of therapy and friendship.
Bonny is great for Joe getting out and being sociable, meeting lots of other people. It also gives Joe a sense of responsibility to look after his dog and care for her.
Martin, Joe’s dad
Watch Joe's story
Link: https://youtu.be/eH6lmNIcAvw
A 20-week scan revealed that something wasn’t right. After Joe was born, his mum Caroline turned to Google for answers. She came across a rare genetic condition which seemed to fit Joe’s presentation. A few months later he received the formal diagnosis.
Joe’s parents say this gave them an understanding of the developmental and medical challenges he might face. It helped them get access to treatment and therapies, as well as opening up networks of other families who understood their situation.
Before diagnosis, there is a level of uncertainty. There is a lot of wondering if you’re doing everything you should be doing. A diagnosis doesn’t solve all of that, it’s not a magic bullet for everything being known and the future mapped out, but it gives you more of a framework as to what the challenges might be and enables you to address things with a bit more knowledge of the prognosis in the future.
Martin
Over the years, Joe has faced challenges with his eyesight, his hearing, speech and swallowing, his mobility and muscle tone, and his kidneys. He has been able to access support for all these, including orthotics to ensure his feet and ankles are well supported. People with Joe’s condition are typically very tall with big features. “Joe’s feet grow so quick!” says his mum, Caroline.
Cambridge Children’s Hospital will house a research institute, with six specialist centres including Genomic Medicine. Bringing researchers and clinicians together in one place will create a collaborative and multi-disciplinary environment, shifting from reactive care to prevention and early intervention.
Professor David Rowitch, the project's research lead, says the impact of genetic diagnosis enables more precise medical management, tailoring therapies to the individual child.
"This will mitigate the so-called ‘diagnostic Odyssey’, reducing unnecessary testing, and provide important information about how the condition will affect a child in the short and long-term."
The early years were full on for us, but Joe just got on with it all. That’s what makes the prospect of a new hospital with a research hub so very wonderful for families whose children are seeking a diagnosis and needing interventions for their holistic development.
Caroline, Joe's mum
With help and perseverance, Joe met all his milestones. He walked just before his second birthday. He learned to talk. He excels at swimming. He is a valued member of his local community and a keen environmentalist, often out on his trike picking up litter. Joe enjoys going to his drama club and is a member of Unique Feet (opens in a new tab), a group run by Cambridge Rare Disease Network for children and families to come together.
There is no stopping Joe, who, by the way, is also a massive fan of the TV show Gladiators. Ask him anything. He knows it all!
I am very, very proud of myself because I overcame all those challenges over the years, so I’m very, very happy that I have a good life.
Joe, age 10
- Read about research at Cambridge Children’s Hospital