Arabella’s Story
Meet Arabella — known to her family as Bow. She’s ten years old, from Oxfordshire, and was diagnosed with ReNU Syndrome in 2024. This is her family’s story, in her mum Christina’s words.
The search for answers
When Arabella was born, there were few signs at first that anything was different. It was only when she began to miss her developmental milestones that her mum, Christina, started to worry. Arabella was referred to a paediatrician, and the family began what would become years of tests.
It soon became clear that Arabella had complex needs, and that she would need extra support with many everyday things.
“It didn’t take long for Arabella to be diagnosed with developmental delay, and a brain scan showed that she had cerebral palsy. We then underwent lots of genetic testing and waited years for results to come back since the testing was done from the US.“
— Christina
Like so many families living with a rare condition, Christina and her family were told that something else was likely behind Arabella’s symptoms — but no-one could pinpoint what.
“It was really draining and frustrating. We were trying to get Arabella extra help at school, which was quite hard to do without a diagnosis. And we were always worried about phone calls and getting news that something horrible had happened.”
— Christina
Finding the diagnosis
Arabella’s family spent years searching for answers. Then, unexpectedly, a diagnosis came: ReNU Syndrome. It was made possible by two research groups who had examined data from Genomics England’s National Genomic Research Library and identified a genetic change that causes complex disability in children and adults around the world.
The condition’s name — ReNU Syndrome — was given by researchers and families together. It symbolises the way a diagnosis can “renew” hope for the future.
Through the discovery, a support group was formed, and Christina found her way to it. She joined a community of hundreds of families around the world who now had a name for what they were living through.
“It was an incredibly emotional moment — and a relief. It was also a massive relief to find out that it wasn’t a life-shortening condition, which I know I wasn’t alone in worrying about. There were adults with ReNU in the support group, and that was so important for me to know.”
— Christina
Life with ReNU Syndrome
Arabella has several features that are now known to be common in people with ReNU Syndrome — including being non-verbal, developmental delay, and reduced muscle strength. She can walk short distances, and uses a chair for longer walks.
Even without spoken language, Arabella is learning to communicate — she’s embracing sign language alongside her parents, and finding her voice in her own way.
The diagnosis hasn’t changed the day-to-day of caring for Arabella. But it has given the family something they didn’t have before: answers, and access to a support network of other families who understand.
“With so little known about the condition, it’s been great to be able to ask questions — a lot of the time, there’ll be another parent who’s had the same experience or problem. We have this incredible resource to help us as Arabella grows up.”
— Christina
Arabella with her family in Norway, August 2025.
Why research matters
Arabella’s diagnosis — and the discovery of ReNU Syndrome itself — was only possible because of whole genome sequencing data shared by patients and participants like her.
There will be many children and adults with ReNU Syndrome who don’t yet have a diagnosis. Christina is clear about why that needs to change.
“I don’t want other families going through what we’ve been through. Genomic research has already been able to provide answers for so many families around the world. I want there to be greater awareness of both the condition and of what research like the 100,000 Genomes Project can do.”
— Christina
This story was originally shared by Genomics England, whose participant stories help build understanding of ReNU Syndrome.
With thanks to Christina and Arabella for sharing their journey. Read the original story at genomicsengland.co.uk.
Every story matters
Arabella’s story is one of many — every family living with ReNU Syndrome has their own journey, and each one helps build understanding, awareness, and community.