Minister marks Rare Diseases Day with visit to new centre

Rare Diseases Day was celebrated at Guy’s and St Thomas’ last week with a visit to the Trust’s new Rare Diseases Centre by Steve Brine MP, Minister for Public Health and Primary Care.

The Minister visited the new centre at St Thomas’ Hospital on Wednesday 28 February to find out more about the work being done to treat people with a range of rare diseases in an environment designed around their specific needs.

He was given a tour of the new facilities, followed by a conversation with patients and patient representatives about what life is like living with the rare conditions treated at the centre. The clinical team also explained how patients have benefitted since the centre opened and how it is meeting their unique needs.

The centre, which opened in November 2017, is the first of its kind in the UK to provide a space designed for adults and children with life-long genetic and skin conditions that affect many organs in the body. The new centre brings together several specialist services in one place, saving time and improving patient experience.

The rare conditions include epidermolysis bullosa (EB), which causes fragile skin prone to recurrent painful blisters and sores, xeroderma pigmentosum (XP), a genetic disorder affecting patients’ ability to repair the damage caused by ultraviolet (UV) light, significantly increasing their risk of skin cancer and eye disease, and Bardet-Biedl syndrome (BBS), a disorder that can cause blindness and kidney disease as well as affect other parts of the body.

Professor Jemima Mellerio, consultant dermatologist at Guy’s and St Thomas’ and clinical lead for the Rare Diseases Centre, said: “We were delighted to welcome the Minister to our new centre and show him how we have worked with our patients to design an environment that provides the best possible experience for them, as well as the highest quality care.”

The Minister met Sandra Webb, who set up a patient support group for XP when her son was diagnosed with the condition 20 years ago. She said: “This was a great opportunity to talk to the Minister about the challenges faced by people living with a rare condition, and how important it is that they can now receive all their care in one place.”

The visit also included time in the epidermolysis bullosa (EB) laboratory where the Minister was given a practical demonstration by Viapath staff of the process for gene sequencing and analysing cell samples from patients.

He also dropped by the interactive stalls being run by the Trust’s clinical services to mark the national awareness day where he spoke to patients and staff. Members of the patient support group BBS UK showed the Minister how patients often have problems with their sight by using special glasses designed to replicate partial blindness.

Speaking after his visit, Steve Brine MP said: “I was really impressed with the types of treatment options available at the Centre and the ways in which it meets the unique needs of its patients. The staff at St Thomas’ Hospital provide a great source of support for patients and their families affected by a rare disease.

“It’s also encouraging to see how clinicians, researchers and industry are working collaboratively to advance our understanding of rare diseases and explore new treatments that can be beneficial in the future.”

The Rare Diseases Centre was funded by Guy’s and St Thomas’ Charity, the charity DEBRA, the Four Acre Trust and the Photodermatology Charitable Trust.