Rare Disease Day 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
For Tabitha and her family, a diagnosis has made all the difference.
After noticing symptoms she shared with her father, Gawain, Tabitha’s parents spoke to their GP, leading to a referral 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.
The family say this diagnosis has given them clarity and access to specialist advice and support, as well as much needed reassurance.