Facts about DebRA and EB
DebRA provides practical support and funds research into EB (Epidermolysis Bullosa), a rare and currently incurable genetic skin condition, which affects children from birth. It is fatal in the most severe cases and even in its mildest form causes lifelong disability and pain.
People affected by EB rely primarily on the range of specialist support services provided by the charity rather than the NHS.
These include:
Travelling nurses who will:
- Visit a new-born EB baby in hospital anywhere in the country
- provide support and care to parents and baby
- take skin and blood samples for EB diagnosis
- Visit children and adults with EB in their homes
- Provide care for EB patients at St Thomas’s Hospital, Great Ormond Street Hospital for Children, Birmingham Children’s Hospital and Solihull hospital.
A welfare team who will:
- Ensure people with EB get the specialist equipment, education, housing and benefits to which they are entitled
- Provide emotional support for people with EB
- Provide respite holiday homes for people with EB
We also fund a wide portfolio of research programmes - research that is not undertaken by government or pharmaceutical companies.
The range of research we fund include:
- Genetic Research into effective treatments. We believe we are just 2 - 3 years away from first human clinical trials into effective treatments
- EB related cancer. Young adults with the type of EB that Jonny Kennedy had are extremely likely to develop fatal skin cancer
- Wound healing
- Pre-natal EB diagnostics for known EB parent. The research is looking at pre-implantation genetic diagnosis
As there is no government funding to find a cure for the condition DebRA relies completely on donations.
About EB
- The skin disorder is genetic (it cannot be 'caught') and the most serious form only occurs when two gene carriers have a child together*
- It causes a breakdown in the natural proteins that hold the skin together
- The slightest touch can cause severe pain, blistering and sores
- The skin blisters have to be lanced & dressed every day taking up to 3 hours
- It is currently incurable
- In its most severe form, infants do not survive the disease
- Life expectancy of adults can be cut dramatically short, by some 30-40 years
- There are 5,000 sufferers in the UK with around 500,000 worldwide.
- This equates to 1 in 17,000 live births being EB affected
- One in 227 of us carry the defective gene.
*Genetic inheritance
There are two main types of inheritance which are important in EB. These are referred to as dominant and recessive inheritance. When both parents carry the recessive gene (usually without knowing it) there is a 25% risk in each pregnancy of a child having this form of EB. In the case of dominant EB, the risk is 50% in each pregnancy. Someone with recessive EB will always pass on a defective gene but in a dominant form there is only a 50% chance o f the defective gene being passed on.
Note to Editors
Case studies
We have a number of case studies that we can provide with interviews and photography
