New rare disease centre to transform patient care

7 years ago

The charity DEBRA is thrilled to provide a significant contribution of £250,000 towards the first Rare Disease Centre at St Thomas’ Hospital, London. DEBRA supports individuals and families affected by Epidermolysis Bullosa (EB) – a painful genetic skin blistering condition. The new Centre will, for the first time, bring together all the services, healthcare professionals and facilities necessary to meet the complex medical requirements of people living with EB in one central facility. The total cost which is £2 million is being made possible by collaborative funding between charity partners. DEBRA is making a significant contribution to the costs with the majority of the project funded by Guy’s and St Thomas’ Charity. DEBRA is delighted that the new facilities will also be of benefit to people living with other rare diseases.

Ben Merrett, DEBRA’s Chief Executive Officer, said: "This project represents an excellent opportunity for a consortium of charities to help a first class hospital improve the physical facilities for some of their patients. With the long term financial challenges facing the NHS it has been charities that have stepped up to the plate to partner Guy’s and St Thomas’ NHS Foundation Trust with this very important and long term investment."

DEBRA works closely with the NHS to deliver an enhanced EB healthcare service to people with EB. Guy’s and St Thomas’ is already home to one of four EB centres of excellence where specialist teams already provide a gold standard level of expert care and support, including nursing, dietary, podiatry and physiotherapy services to adult EB patients. DEBRA funds 25% of the salary of each specialist EB nurse so they can undertake work not funded by the NHS, but crucial to enhancing the lives of people living with EB.

“We know that living with EB can mean clinic appointments are all too frequent, and that hospital departments can feel unwelcoming and clinical spaces. With the development of this new centre, the cutting-edge facilities will enable us to deliver the best possible multidisciplinary care for people and families living with EB. The environment will be attractive and comfortable, appropriate for the significant amount of the time many people with EB will be spending there when coming for all-day clinics.” Prof Jemima Mellerio, Consultant Dermatologist at Guy’s and St Thomas’ NHS Foundation Trust.

Whilst the specialist healthcare service provided to EB patients at the hospital is recognised as being second-to-none the physical buildings and facilities, where clinics take place, are no longer fit for purpose. Currently patients must walk to different areas around the two sites, often considerable distances apart, to see the different specialists involved in their care, access equipment or find space for a quiet consultation. This additional movement can severely exacerbate blistering and cause extreme stress making visiting hospital an emotionally draining experience which puts many people off accessing the vital care needed to manage their EB.

“My mother gets so distressed when she has to attend her EB appointment because several times now she has arrived and the clinic has moved resulting in her having to walk around the hospital which causes great discomfort and blistering of her feet. I fear she will stop attending these vitally important clinics,” EB patient carer.

DEBRA’s funding will ensure that the new Centre is a modern and positive space to visit and spend time in, for both EB patients and their families. Large consultation rooms will enable more than one family member to be seen at a time by the various specialists, transforming the hospital experience. A state-of-the-art video conference suite will allow clinicians to work more closely with patents’ local health services across the UK and also enable experts to share best practice around the world.

The new Rare Disease Centre is expected to open at St Thomas’ in late 2017 and will be housed in a disused space within the existing hospital following a full refurbishment.

To find out more about EB or DEBRA please visit www.debra.org.uk.

ENDS

Notes to editors:

About DEBRA and EB – ‘The worst condition you’ve never heard of’

EB is a group of currently incurable genetic skin conditions which cause the skin to blister and tear at the slightest touch. In some cases it also affects internal linings and organs.

There are three main types of EB: Simplex, Dystrophic and Junctional. In its most severe forms EB is fatal. Even in its least severe forms it can still cause lifelong disability and pain.

There are at least 5,000 people living with EB in the UK and about 500,000 worldwide.

DEBRA funds pioneering research to find effective treatments and, ultimately, a cure for EB and provides care and support to individuals and families living with EB.

For more information visit www.debra.org.uk or call Sara McIlroy on 01344 467783.

About DEBRA UK

DEBRA is the national charity that supports individuals and families affected by Epidermolysis Bullosa (EB) – a painful genetic skin blistering condition which, in the worst cases, can be fatal. There are at least 5,000 people living with this devastating and currently incurable condition in the UK and 500,000 people worldwide. There are three main types of EB: Simplex, Dystrophic and Junctional. These are defined by how deeply into the skin blistering occurs. Each type has multiple subtypes. In its least severe form, blistering is confined to the hands and feet but can still cause lifelong pain and disability. In more severe cases, the whole body is affected and wounds heal very slowly, giving rise to scarring, physical deformity and significant disability. Blisters often have to be drained and dressed every day – a painful procedure which can take several hours. Excessive blistering creates scar tissue which can cause fingers and toes to fuse together, and could lead to an aggressive form of skin cancer. Blistering can also affect inner body linings, such as the mouth and throat and, in its most advanced form, EB is fatal in infancy. People with EB are often fighting infection, both internally and externally, which can prove impossible to overcome. One in 227 of us carry a defective gene that causes EB. EB may be inherited in either a dominant (usually one parent carries a defective gene which results in EB, and is affected by the condition themselves) or a recessive form (both parents carry the gene but are usually unaffected themselves, so the birth of an affected child is totally unexpected). EB can also arise through a new spontaneous mutation whereby neither parent carries EB yet the gene mutates spontaneously in either the sperm or the egg before conception. In dominant EB there is a 50% chance of passing the condition to children, in recessive EB the chance is 25%. Rarely, a severe form of EB can be ‘acquired’ as the result of autoimmune disease, whereby the body develops antibodies to its own tissue proteins. DEBRA was founded in 1978 and provides an enhanced EB Healthcare Service, in partnership with the NHS, to deliver optimal healthcare to children and adults living with EB, community support staff to work directly with individuals and families providing information and advocacy in the face of red tape, support grants to help families with the day-to-day difficulties of living with EB as well as respite in the form of days out, events and the provision of specially adapted holiday homes. The charity also provides real hope for the future by funding pioneering research to find effective treatments and, ultimately, a cure for EB.