28/02/2026
❤️💙
Rare Disease Day ✨💙
On Rare Disease Day, we’re shining a light on families living with conditions that are often misunderstood and misdiagnosed and on the life-changing power of research.
Harry’s journey began with a frightening emergency at just six weeks old. It was then doctors noticed Harry wasn’t growing as expected. For years, Harry and his family navigated the unknown without a name for what they were facing.
Then, when he was eight, Harry met Professor Meena Balasubramanian, Consultant Clinical Geneticist and Director of Research at Sheffield Children’s. It was a turning point. Through genome sequencing, Meena discovered Harry had Neuroblastoma Amplified Sequence (NBAS), a rare genetic condition caused by a tiny change in DNA that can have life-altering effects. Finally, they had answers.
Today, Harry is 21. He stopped growing at 3’10”. He has brittle bones, is registered blind, partially deaf, lives with Type 1 Diabetes and has a compromised immune system. But that’s only part of his story. Despite complex challenges, Harry is thriving.
As his mum Rebecca says: “We are so thankful to research because it helped us finally identify Harry’s condition. It’s also really nice to have that ongoing relationship with Meena and the research team. There are so many positives that come out of research, it makes a difference to our family, but it also helps so many more families.”
There are more than 7,000 known rare conditions worldwide, affecting over 3.5 million people in the UK. Many take years to diagnose and are often misdiagnosed. Research changes that.
The initial research that led to Harry's life-changing care was funded by Sheffield Children’s Hospital Charity. The charity has made a bold commitment to quadruple its investment in research to £1 million a year for five years.
As Sheffield Children’s marks 150 years of compassionate care and pioneering discovery, Harry’s story is a powerful reminder that research transforms uncertainty into understanding. It drives innovation, creates hope for future treatments, and changes lives - one discovery at a time. 💙
🔗 Read Harry’s full story: www.sheffieldchildrens.nhs.uk/news/rare-disease-day-harrys-story