The Rare Diseases Centre at St Thomas’ Hospital is a purpose-built unit, providing care for adults and children with rare, life-long genetic and skin conditions. The centre brings together several specialist services in one place.
The rare conditions include:
- bardet-biedl syndrome (BBS), a disorder that can cause blindness and kidney disease and affects other parts of the body.
- epidermolysis bullosa (EB), which causes fragile skin prone to recurrent painful blisters and sores.
- genetics, offer services to diagnose and assess the risk of patients and families inheriting a genetic condition.
- xeroderma pigmentosum (XP), a genetic disorder affecting patients’ ability to repair the damage caused by ultraviolet (UV) light, significantly increasing risk of skin cancer and eye disease.
Features of the centre include:
- UV-free areas for people with XP.
- large consultation rooms to see entire families affected by the same genetic condition at once.
- state-of-the-art video conference equipment, enabling clinicians to work closely with patients’ local health services and to discuss cases on an international level.
- large, welcoming reception area, kitchen facilities and a sensory gardens for patients and their families.