Rare Disease Day – Harry’s story

On Rare Disease Day, we are shining a light on the experience of families living with conditions that are often misunderstood and misdiagnosed. Harry’s story is one of resilience and the life-changing power of research.

What began as a frightening emergency when he was just six weeks old became a years-long search for answers – a journey that would ultimately lead to groundbreaking genetic discovery at Sheffield Children’s NHS Foundation Trust and a diagnosis that changed everything.

At just six-weeks-old, a routine check-up with midwives quickly turned into an emergency trip to Sheffield Children’s for Harry. A happy and lively baby, Harry appeared unusually quiet and lethargic, so he was rushed to the hospital’s Emergency Department.

What doctors first suspected to be meningitis turned out to be a urine infection, something quite rare in babies his age. But they also noticed Harry wasn’t growing as expected, which led to further investigation.

Rebecca, Harry’s mum, said “The Immunology team at Sheffield Children’s stepped in, exploring whether Harry’s growth issues were due to nutrition or a genetic factor. After years of tests, it became clear it was genetic.”

Like many families affected by rare diseases, Harry and his family were navigating the unknown without a name for what they were facing.

Then, at eight-years-old, Harry met Professor Meena Balasubramanian, Consultant Clinical Geneticist and Director of Research at Sheffield Children’s. It marked a turning point.

Harry underwent genome sequencing – a process that tells us how a person’s DNA is made up. By looking at the DNA sequence, researchers can find out how a person’s genes might affect their health. And the results finally provided Harry and his family with the answers they had been searching for.

Meena and her team discovered Harry had Neuroblastoma Amplified Sequence (NBAS) – a gene that provides instructions for making protein involved in various cellular functions. When a gene has a spelling mistake in its code, it means it may not work as expected, which can lead to a variety of conditions and health issues.

Living with a rare disease

Today Harry is 21-years-old. He stopped growing at 3’10”. He has brittle bones, is registered blind, partially deaf, has a compromised immune system, and lives with Type 1 Diabetes.

But that’s only part of his story. Despite his complex challenges, Harry is thriving, receiving comprehensive care from multiple departments at Sheffield Children’s.

Rebecca said: “Harry loves visiting the hospital. He even describes it as a homey hotel. You see all these things that are wrong with Harry, and you don’t think there can be much quality of life but if you check out his TikTok videos, you can see a glimpse into how amazing he is.

“When Harry learned to walk and talk, there was never the expectation that he would ever be able to, so when an unexpected moment happens you celebrate those things that bit more. It makes those moments really special and important.

“Life with Harry is brilliant; every day is a school day. People think it’s all doom and gloom, but it isn’t, every day is very positive.”

Why rare disease research matters

There are more than 7,000 known rare conditions worldwide, affecting over 3.5million people In the UK. The lack of scientific knowledge and reliable information on rare diseases often leads to delays in diagnosis.

Meena explains: “Rare diseases often take years to diagnose and are frequently misdiagnosed. Many have limited or no treatment options and require highly specialised care that isn’t easily accessible.

“Most are caused by specific alterations in DNA – tiny changes that can have life-altering consequences. Through my research, I aim to bridge patient care with laboratory research. That approach, from the hospital bedside to the genetic sequencing lab and into zebrafish models, represents the future of rare disease medicine.

“We have generated zebrafish models for the condition that show the exact same genetic change as Harry with the hope of finding a new treatment for human NBAS, for Harry.”

For families like Harry’s, research is more than just science. It’s connection.

“The diagnosis initially made us feel isolated, but through a Facebook group, we’ve found a supportive community. It’s all thanks to Meena’s research that we’ve been connected with others,” added Rebecca.

“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 because it’s a safe space where you can talk through all your concerns. 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.”

Support through charity funding

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.

Sheffield Children’s Hospital Charity CEO, John Armstrong, said: “We are proud to support Sheffield Children’s to deliver world-class care for every child, everywhere, and believe one of the best ways we can do that is through investment in research.

“Clinicians like Prof Balasubramanian are at the forefront of children’s healthcare, and their dedicated research is helping to change lives like Harry’s. We are honoured to support excellence and innovation from experts like Meena.”

As Sheffield Children’s marks its 150th year, Harry’s story is a powerful reminder of why research matters. For a century and a half, the Trust has combined compassionate care with pioneering science, ensuring children with the most complex and rare conditions are not left without answers.

Research does more than identify diagnoses – it drives innovation and creates hope for future treatments. For families like Harry’s, it transforms uncertainty into understanding. And as Sheffield Children’s looks to the next 150 years, its commitment to advancing rare disease research continues to change lives, one discovery at a time.