DebRA was formed in 1978 by a group of parents of children with EB who were determined to give their children the best start in life.  Their initial aim was to work together to help themselves. 

EB (Epidermolysis Bullosa) is the genetic condition causing blistering and shearing of the skin and internal linings form the gentlest friction – or even spontaneously. 

The skin is made up of a number of different layers.  The outer layer is called the ‘epidermis’; the inner layers are the ‘dermis’.  ‘Bullosa’ is the name for a blister and ‘lysis’ means breakdown.  Here Epidermolysis Bullosa means the breakdown and blistering of the epidermis.

There are three major types of EB, simplex, dystrophic and junctional.  These vary from relatively mild to incapacitating, disabling and, at the most severe, fatal.

EB is passed on from parents to children.  In the case of dominant inheritance one parent has EB and there is a one in two chance in each pregnancy that the children with have EB.  In the case of recessive inheritance, neither parent appears to have the condition but both are carriers.  In this case, there is a one in four chance in each pregnancy of the children having EB.

In general, EB causes blisters that may be restricted to specific area, for example hands or feet, or may affect large areas of the body.  This propensity to blister will usually have been present from birth and will not develop at a later age.

Around 70% of EB appears in Simplex form.  By and large this is the least severe with blistering often confined to the hands and feet.  Dystrophic forms of the condition account for 25% of cases and are caused by the “hooks” that hold the dermis down being damaged or absent.  Blistering is widespread and constant and leaves scarring.  The scarring results in permanent changes to the skin, for example fingers may fuse and hands contract, reducing movement.   Junctional EB only occurs in 5% of cases.  There are two main forms of Junctional EB – one of which is fatal in infancy.

EB does not only affect the skin.  The mouth, throat and tongue can be affected making eating and swallowing very painful and difficult.  Babies with sever EB can receive extra feeding through a gastrostomy button, enabling nutrients to be given directly into the stomach.

Other internal linings may be affected including the eyes and anus, which can cause severe pain and discomfort.

It is estimated that one in 17,000 live births are affected in the UK.  This means that about 5,000 people area affected by EB in the UK and around 500,000 worldwide.

EB appears in all populations and racial groups and in both sexes.

DebRA is the only national charity exclusively committed to the support and care of families affected with EB, and increasing the quality of life of those with the condition.  Over the years DebRA has greatly extended its range of services.

Today, people affected by EB can rely on the range of specialist support services provided by the charity, these include:

• Travelling nurses able to visit babies in hospital and children and adults in their homes.
• A welfare and advocacy service
• Specialist equipment provision
• Respite holiday accommodation

The rarity of the condition means there is little or no funding for EB research from either industry or the state.  Over the last ten years DebRA has been able to fund research programmes that have resulted in big leaps forward in their understanding of EB and a subsequent rise in both quality of life and life expectancy for EB people.

Genetic advances mean that it is now known the genes that cause EB and, with an intense genetic research programme in place, it is hoped that trials into effective treatments will occur in the foreseeable future.

DebRA also funds research into wound healing, cancer in Recessive Dystrophic EB and pain management.

DebRA relies totally on voluntary support and donations for all aspects of its work.

Information on the history of DebRA can be found at www.debra.org.uk/debraservices/DebRA+History.htm

DebRA’s website is: www.debra.org.uk  

If you want to be updated with DebRA news, you can now receive the DebRA newsletter digitally.  Email DebRA to recieve the next edition.

Please help Stuart reach his target of £5K for DebRA by sponsorsing him, click here  to be directed to his 'justgiving' page.  Total raised for DebRA was £3,709.38 (including giftaid).

Thank you