Rare Disease Day 2025
28 February 2025
February 28 is Rare Disease Day, a day to recognise the challenges faced by individuals living with rare conditions. The NHS is proud to support those affected by rare diseases through the NHS Genomic Medicine Service, helping provide faster, more accurate diagnoses and improving patient outcomes.
Did you know:
- There are approximately 3.5 million people living with a rare condition in the UK
- Around 80% of rare conditions have an identified genetic origin
- There are estimated to be over 7,000 rare conditions
- 95% of rare conditions do not yet have a treatment
As part of the South West Genomic Medicine Service (SWGMS), the Royal Devon is working to bring genomic medicine into everyday healthcare across the South West of England.
The importance of a diagnosis
For families living with rare diseases, a diagnosis brings much needed answers. Genomic testing can play a crucial role in uncovering the underlying causes of many rare conditions.
A diagnosis can lead to more personalised care, help inform treatment options, and provide families with the information and support they need to plan for the future.
This Rare Disease Day, we are sharing stories that demonstrate the real impact of receiving a diagnosis through the NHS Genomic Medicine Service.
Tabitha’s story
Tabitha is five years old and lives with her family in Devon. Concerned about certain symptoms she shared with her father, Gawain, her parents spoke to their GP, who referred them to the clinical genetics service at the Royal Devon.
Following an appointment, Tabitha had a blood sample taken for genetic testing. The results showed a change in one copy of her WNT10A gene, leading to a diagnosis of mild ectodermal dysplasia—a rare condition that affects the development of the skin, teeth, nails, and sweat glands.
Further testing confirmed that Gawain had the same genetic change and diagnosis, helping to explain some of the characteristics they both shared.
The family say having a diagnosis has helped them understand the condition and how best to manage it. They now have access to specialist advice on skin care, and guidance on how to manage any future health concerns. It has also helped them connect with support networks and resources for families affected by ectodermal dysplasia.
Tabitha’s brother and sister were also tested and found not to have the same genetic change, providing further reassurance.
As we continue to advance genomic medicine, the South West Genomic Medicine Service is working to ensure that more individuals with rare conditions receive timely and accurate diagnoses, leading to improved care and better health outcomes.
Through innovation, research, and collaboration, we’re helping more families affected by rare diseases by providing information, support, and personalised care.
How can I get involved?
Follow us on social media, like and share our posts, and discover how you can use genomics in your clinical practice.