Why eb-family?

The number of people familiar with EB is very small. So small actually that the group almost forms a family of sorts.

Epidermolysis bullosa is a rare disease, with just 1 or 2 cases in 100,000 live births. As a result, the number of so called “butterfly children” living in Germany is no more than about 2,000. For the sake of comparison: more than 500,000 patients suffer from the rare form of diabetes type 1. The very rarity of EB creates a variety of problems:

  • Even physicians are rarely familiar with EB.
  • Few if any health insurance companies or authorities know the needs of EB patients.
  • Preschools and schools shy away from the unfamiliar challenge.
  • People around those suffering from EB misinterpret the symptoms and respond with shock or indifference.

All of this must be blamed on ignorance about EB. For butterfly children and their families, this lack of information often results in improper medical treatment as well as permanent disadvantages and injuries that leave deep blisters, erosions or scars.

EB is caused by a genetic defect (to the keratin or collagen gene), the only prospect for a cure being genetic therapy. While no such cure is available at this time, researchers worldwide have committed themselves to finding one.

Despite the intense work and some spectacular progress, there are still many areas where EB families are largely on their own. This, too, must be blamed on the rareness of EB, as the small number of patients is supported by sponsors just as rare, however dedicated they may be. These sponsors and helpers, though, can hardly be everywhere at once and lend assistance in all the places where it is needed.

Where and when do EB families most depend on outside help? Here is the answer: in day-to-day life.

This everyday reality does not take place in doctors’ offices of EB specialists, but in the domestic environment of those suffering from the disease. The issues arising here, most of them spontaneously, need to be addressed. And the problems that arise need to be solved as swiftly as possible, or indeed immediately. Even the most dedicated EB specialists are unable to support and counsel dozens of families living hundreds of kilometres apart.