Many parents and carers wait months, even years, for their child to be diagnosed. But questions often remain about what that rare disease means for them in the long term. Tristan and his mum, Celia, talk about their journey and why they believe bringing a research institute into Cambridge Children's Hospital will be a game changer for families.
Thirteen-year-old Tristan has a rare disease, but he doesn’t let that hold him back. Instead, he lives and breathes cricket, loves history, and hangs out with his mates. However, as a newborn baby, his early weeks were not so clear cut. His parents and healthcare professionals knew that something wasn’t right, but they just weren’t sure what.
“I remember a nurse practitioner saying that there were too many things wrong and we would need to see a geneticist,” says Tristan’s mum, Celia. “We’d spent so much time thinking we could fix things, so this was massive."
We suddenly realised that something was amiss. Our child wasn’t going to be what we thought our child was going to be.
Celia, Tristan's mum
From the start, research was an important part of their journey and Celia spent her evenings trying to find answers. When Tristan was finally diagnosed at nine months, Celia found every research paper ever written about his condition. That learning helped them navigate their new world and ensure Tristan had the right support.
“With or without a diagnosis, research can really help you with certain aspects,” says Celia, who gives examples of feeding problems, obesity, diabetes, and blood pressure, all of which have been heavily researched. “This can give you ideas, even solutions.”
Because of her experience, Celia is a passionate advocate for the Cambridge Children’s Research Institute. This 5000 m2 hub, in the heart of the new children's hospital, will bring researchers and clinicians together in one place to create a collaborative and multi-disciplinary environment dedicated to improving the health of children and young people.
For those waiting for a diagnosis, knowing there is a strong focus on research will provide hope that one day someone will find an answer to explain why and how.
Celia
Russell Silver Syndrome (RSS) is a rare genetic developmental disorder. “It’s got a bit of dwarfism in it, so I have to take growth hormone injections every night,” explains Tristan. “My jaw was formed quite far back so I have to wear braces. I go to Birmingham every year to be checked out by specialist doctors. For me, my rare disease is not that big a deal but I know some people have it a lot worse."
Having a diagnosis for Tristan was a relief, but also created mixed emotions for Celia and her husband, Matt. “You’re thinking, is my child going to grow up? Is it going to be degenerative? What treatments will be needed? Is there a treatment plan? With Tristan’s rare disease, like most of them, there isn’t a treatment plan. There’s no cure.”
Discovering Cambridge Rare Disease Network (opens in a new tab) on the internet gave them a chance to meet with other ‘rare’ families who were facing similar challenges, whether they already had a diagnosis or were still waiting. The Unique Feet (opens in a new tab) group provided a lifeline for rare children, their siblings and their parents.
“Our journeys are so dissimilar and yet they’re so similar,” reflects Celia. “We are all going through the emotions of not knowing or knowing, finding ways to support ourselves in hospital, trying to find ways to support education, trying to support our children’s social and emotional development. That’s a very big thing. Children who are starting to understand that they’re not the same as their peers.”
Tristan enjoys spending time with his friends who don’t have a rare disease but finds huge value in shared experience.
It’s also important to hang out with people who do have a rare disease because they can understand what you’re feeling because they’ve been there. It’s important to get a good balance.
Tristan, age 13
It’s estimated that one in 17 people will develop a rare condition at some point in their life, according to the team at Cambridge Rare Disease Network.
Each rare disease affects few people but with 8000 different conditions affecting 400 million people worldwide, they are individually rare, but collectively common.
Cambridge Rare Disease Network
Celia explains that, despite the relative commonality of 'rare' disease, there is a continuous struggle to gather interest and secure funding for robust patient-led research. She believes bringing world-leading research directly into the Cambridge Children's Hospital building will make a difference.
“This is going to remove barriers. It’s going to create an easy pathway for people to be involved in research. The easier we can make research happen the more hope we have to advance the healthcare within the children’s hospital and increase the offer for all children entering the doors.”
David Rowitch, Interim Director of Cambridge Children's Research Institute and Head of Paediatrics at the University of Cambridge, said: "Cambridge Children’s Hospital is committed to early diagnosis of serious genetic conditions as part of routine care in Intensive Care Unit and paediatric specialty clinics. We aim to promote access to precision repurposing medicine and new gene therapy clinical trials to enhance options for patients with rare diseases.”
Watch Celia talking about the importance of research
Link: https://youtu.be/C7o5wfc0I4Q