“We decided to help these children, because today, most of them are not expected to live beyond childhood.” Dr. Anja Frankenberger-Meyer, board member, Kindness for Kids
Medical orphans
In Europe (EU), a rare disease is defined as a disease in which fewer than five out of 10,000 people are affected. About 30 million people living in Europe suffer from a rare disease which corresponds to 6 %- 7% of the EU population. The reason for these unbelievable numbers is as a result of the fact that approximately 7,000 rare diseases have been identified so far, with an estimated 8,000 in total. 80% of all rare diseases are related to genetic defects, many of them are even chronic and life-threatening. Rare diseases are characterized by a large variety of dysfunctions and symptoms which vary not only by disease but by patient, too. A rare disease can be a master of disguise: in the beginning it develops rather common symptoms and hence can be easily overseen or misdiagnosed. It’s mostly young people who suffer: about 75% of all rare disease patients are children, 30% of those children do not reach their 5th birthday.
The major problem about rare diseases
Very often, it’s only a handful of patients within Europe or even worldwide who suffer from the same disease. Therefore many affected people struggle more or less with the same problems.
No voice, hardly any support and little hope for therapy.
Individual diseases are too rare to be profitable for the pharmaceutical industry, the level of required effort and investment costs grossly outstrip returns. Unfortunately, just a few patients have the prospect of sufficient treatment and curative medicine: only for 200 out of 7,000 rare diseases there are efficient therapies. Many doctors struggle to filter out a rare disease due to unclear symptoms and cost-intensive diagnosis. The few specialists are often hard to find and too far away. Additionally, the large number of these diseases along with their rareness hamper a diagnosis. The road to a correct diagnosis can be long and arduous, taking up to seven years, on average.
Many patients suffering from rare diseases which are both treatment and cost-intensive won’t be covered by most insurance companies. This leads to a care centralization in university hospitals and forces maximum care hospitals to operate in the red.
Not only the children suffer, the whole family is affected.
Rare disease patients face numerous severe problems not only due to the medically desolate situation, but also due to the negative aspects on the social level such as marginalization, isolation and the lack of sympathy. Siblings permanently need to cut back. Parents are being left alone with their problems, a fact that often ruins one’s marriage and leads to divorce. Patient organizations and other places to go are missing for the majority of rare disease counseling. Often, health insurance companies only refund a fraction of the costs. Hence many affected families find themselves in a financial and social emergency.