What is DEBRA?

Waimarino Bulletin, Volume 1, Issue 26, 29 November 1983, Page 6

What is DEBRA?

In last week's edition of the Bulletin we published a short item on the fund-raising efforts by the local Ruapehu Lions Club on behalf of DEBRA. We also mentioned that in the Waimarino area there was one known 'EB' sufferer but there may be others suffering from a milder form of the little-known and distressing disease. As promised, we now publish details of Epidermolysis Bullosa in the hope of identifying and helping others in the Waimarino who may be unwitting sufferers or potential carriers of the disease. A campaign to raise funds for further research into EB at the University of New South Wales is currently being conducted in New Zealand by the programme's coordinator, Jillyan Greville of Hawkes Bay. Anyone wanting to help with the funding of this research programme can send their donations to: DEBRA NEW ZEALAND, P.O. Box2295, Sortford Lodge, Hastings, or take their contribution into Val Parkes at the Ohakune Shoe Shop. What is Epidermolysis Bullosa? Epidermolysis bullosa is the name given to a group of diseases running in families and characterised by blistering and shearing of the skin on trivial injury. The blisters may befilled with clear fluid or with blood and cell fluid. It can vary from a relatively mild disorder to a much more serious one. A person born with one form of the disease will not develop another later in life, as . each type is distinct from the others. What does the name mean? The skin is a composite structure. - The outer layer is called the 'epidermis', the inner one the 'dermis'. 'Bullosa' is simply the name for a blister, whilst 'dystrophic' means scarring 'Lysis' means breakdown; thus epidermolysis means breakdown on the epidermis. This is one group, but there are other types which are less severe.

What causes the disease? The exact cause of the disease is not yet known, and this is why further research is vital but some facts are already known. These facts have been discovered fairly recently, and doctors are hopeful that substantial steps forward in the treatment of the disease can be made if the money for research is raised. How does it manifest itself? There are two main types of epidermolysis bullosa with several sub-categories. These are usually known as 'simplex' and 'dystrophic', or 'nonscarring' and 'scarring'. There is considerable variation in the severity of the disease and its manifestations throughout all forms of simplex and dystrophic groups. The degree of damage caused by the blistering is directly related to the depth at which the defect occurs in the skin. The deeper the level at which the defect takes place, the more likely is the risk of scarring and associated permanent damage to the skin and related tissues within the body. Simplex forms occur when the defect is in the outer skin. Blisters are often more numerous but heal without causing permanent damage. Nevertheless, these variqties cause discomfort and pain throughout the sufferer's life, and a great curtailment of normal social activities including schooling. In addition, the real, or imagined, reaction of the public to the appearance of the skin may lead to withdrawal from social activities and to feelings of isolation, depression and defensive shyness. Dystrophic forms are more serious and occur at different, deeper layers of the skin, thus the damage is more severe. The blisters tend to enlarge, continuously damaging the skin as they do so. They heal with scarring, faintly resembling burns, and this may result in further problems in some of the dystrophic forms. Tissues related to skin, within the body, may be affected by blistering and subsequent scarring. Nails are usually lost or damaged. Little white spots, called milia, may appear on the skin. Does the disease impair mental health? Not at all. Despite the problems the disease can cause, the mental health of all the sufferers is normal. Indeed, the above-average intelligence of many of the sufferers means that they find their physical limitations very hard to come to terms with.

Is it painful? The degree of pain varies considerably according to the severity of the individual affliction. Most of us know how painful a single blister on the heel can be — can any of us imagine what it must be like to have blisters every day of our lives caused simply by the normal friction of clothes? Obviously, this places restrictions on daily life and activities. Is it infectious or contagious? Definitely not. However, the blisters themselves can easily become infected by germs. This causes further pain and delays healing. Is it hereditary? Yes, it is of an hereditary nature. Broadly speaking, the milder categories are passed on from one generation to another. The risk of having an affected child is 1 in 2 for EACH pregnancy. This is known as dominant inheritance. More severe types of the disease are transmitted in an indirect form known as recessive inheritance, that is, both parents carry the gene for the disorder but are not themselves affected by it. The risk of giving birth to an affected child in 1 in 4 EACH pregnancy. It is possible, though not inevitable, for any of the other children to carry the gene in a dormant form as their parents did. The disease will only resurface if they marry another such carrier. Thus it is very important that anyone suffering from epidermolysis bullosa, or who has a relative, however distant, affected by it, should seek genetic counselling. How common is the disease? It is rare, but we know that there are at least 70-80 known sufferers in New Zealand and many more people are afflicted in almost every country in the world.