Meet our Rare Diseases Centre patients and families

Our Rare Diseases Centre at St Thomas’ Hospital was the first of its kind in the UK for children and adults with rare genetic diseases.

"The centre has such a friendly atmosphere – its warmth and welcome makes me feel safe"

Patients can have their all their appointments in one place to see multiple specialities on one visit.

The Centre hosts more than half-a-dozen national services for very rare genetic diseases and families travel from all over the UK for diagnosis and treatment. Clinical trials also take place from the centre.

This Rare Disease Day, some of our staff, patients and their families share their thoughts what the Centre means to them.

Megan Candy, 29, who volunteers with guide dogs, is from Saltash in Cornwall and has Bardet-Biedl Syndrome.

This rare genetic condition can affect multiple systems in the body, often including kidney and eye function among others.

Megan was diagnosed when she was around 18 years old, and travels to London to attend the Rare Disease Centre every two years.

She said: “The centre has such a friendly atmosphere – its warmth and welcome makes me feel safe. I like that when I come, I can do everything in one place. The doctors and nurses there explain my condition to me and we can properly talk about it, which is a real comfort.

“With my condition, I have to adapt to changes. My eyesight is more limited now, so there are things I can’t do, which is frustrating. The staff at the centre understand that and they’re really helpful to me, explaining how I can do things differently.

“Lots of people have never heard of Bardet-Biedl Syndrome, so it can be tough at times. But I’m lucky I have great family support and I’ve got good friends, which has helped.”

Dr Elizabeth Forsythe, consultant in Clinical Genetics, works in the Rare Disease Centre as part of the nationally commissioned service for Bardet-Biedl syndrome.

She said: “The rare disease centre has been a huge asset to our service. The staff and patients who return year on year feel ‘at home’ in the friendly environment which includes a common area where we can catch up informally, beautiful artwork and a little garden.?

“My favourite moments in the rare disease centre invariably take place in the common area where I can have an informal catch up with my colleagues and patients.

“Patients with Bardet-Biedl syndrome attend the hospital for a one-stop shop appointment where they see several different specialists in one appointment and stay for half a day. Spending that time in a welcoming and friendly environment makes a big difference to the overall experience for patients who travel from all over the country to access our highly specialised service.”

Jayne Hughes set up Amy and Friends in 2007 after her daughter Amy was diagnosed with Cockayne Syndrome (CS) at age 14, to share knowledge and support with other families. Jayne has continued the group after Amy died in 2020, attending clinics at St Thomas’ to support families practically and emotionally. The group connects families, helps them attend appointments and manage logistics around the hospital such as collecting prescriptions, and arranges crafts and activities for patients and their families while they are at the Centre.

Jayne said: “We didn’t know anyone who looked like Amy. We lost friends and family members as it was a lot for them to cope with, and it was extremely isolating and lonely. This group is what I wanted and needed but didn’t get. I don’t want anyone to go through what I experienced. When I had Amy, I decided to focus on the positive, and that’s what I continue to do with the group.

“The CS clinic at the Rare Disease Centre is such an amazing thing. I can’t speak highly enough of Centre and its staff – they go out of their way to be respectful and they have so much empathy. They are amazing.”

Dr Shehla Mohammed is a consultant in paediatric clinical genetics and is clinical lead for the national CS and Trichothiodystrophy (TTD) Highly Specialist Service based at the Centre. Now in its fourth year, the service provides face-to-face clinics with a team of specialists including genetics, specialist dental and dietetics, neurology, psychology, dermatology, ophthalmology and occupational therapy, as well as annual home visits. The teams also work closely with patient group Amy and Friends which supports families with CS/TTD throughout the UK and beyond.?A dedicated team of Clinical Nurse Specialists provide comprehensive nursing?assessment?at home visits in between clinic?visits?to provide patients and their families with holistic support.

Dr Mohammed said: “We are delighted to work closely with Amy and Friends who have played a pivotal role in establishing this unique national highly specialist service. They have helped us to ensure that the voice of the patient remains a key focus as well as enabling us to foster research and effective international collaborations to help improve outcomes for patients at Guy’s and St Thomas’.

“This year our service will be growing further to include patients affected by Blooms Syndrome an ultra rare disorder with multisystem involvement. This new arm of the service will be a shared endeavour with colleagues at Manchester Children’s hospital as part of a Rare Disease Clinical Network which has just been designated by NHSE.?It will aim to offer the same comprehensive service that we have for our CS/TTD patients in a multidisciplinary setting.”

Another key component of the centre is research. Dr Melita Irving, consultant clinical geneticist, works with the paediatric genetic research team which has extensive experience of clinical trials. It has run key studies into skeletal dysplasia – rare conditions which affect development of bones, joints and cartilage. This includes achondroplasia, a form of dwarfism.?

#RareDiseaseDay #TeamGSTT #NHS