After careful consideration I have decided to ride for DebRA.
DebRA is a registered charity, no. 1084958
Epidermolysis Bullosa (EB) is a very rare genetic condition in which the skin and internal body linings blister at the slightest knock or rub, causing painful, open wounds. It is likely to affect 1 in 17,000 live births and it is estimated that there are currently 5,000 people with the condition in the UK. Because EB is an inherited condition (it cannot be caught), which is passed on genetically from parents to children, first time parents often do not know that they are carriers and will have no prior warning that the child will be affected, until birth.
The condition has a number of distinct forms. At its mildest, the blistering is confined to the hands and feet making holding things and walking extremely painful. In more severe forms all the body is affected and the wounds heal very slowly, giving rise to scarring, physical deformity and significant disability. For many affected by the condition the blistering is not limited to the skin, but also affects the inner body linings, such as the mouth and oesophagus. The eating of solids is, in these cases, almost impossible, and the disposal of the body waste incredibly painful. When this condition applies, malnutrition is often a consequence, further reducing the body’s resistance to infection.
People with the more severe types of EB also have an exceptionally high risk of developing skin cancers, shortening their lives by approximately 30-40 years. In its most severe form, the condition is fatal in infancy.
Whilst considerable progress has been made in recent years in understanding EB and identifying the genes that cause the condition, there is as yet no effective treatment or a cure.
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.
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.
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.