Whole Genome Sequencing is a vital avenue of exploration for families of children with undiagnosed and complex conditions. At the heart of the new Cambridge Children's Hospital will be our Centre for Genomic Medicine, working to bring hope and answers for families, like Reuben's.
Until recently, four-year-old Reuben, from Essex, was what's know as a SWAN. He had a Syndrome Without A Name. Something was definitely wrong, but no one knew what. In December 2022, Reuben was diagnosed with an ultra rare neurodevelopmental condition called OTUD5. Reuben is thought to be the only person in the UK with this condition and one of just a few dozen in the world. As OTUD5 was only discovered in the last two years, it's hard to know what the future might hold for Reuben. However, without Whole Genome Sequencing, his parents say they wouldn't be where they are now.
It’s difficult to explain the feeling those undiagnosed families go through. To get an answer is such a relief.Nathan, Reuben's dad
Nathan talks about what it's like to be rare and the 'Eureka!' day of diagnosis
Reuben, Danielle and Nathan have joined Unique Feet (opens in a new tab), which is run by Cambridge Rare Disease Network. This group, for families in the East of England, brings together a shared understanding of what it's like to be rare and the importance of celebrating achievements.