Be persistent on rare diseases
Grafik: Supress (No. 9298)
sup.- If you enter “rare diseases” on Google, you will get 7.35 million results. With so much internet knowledge, these diseases should be neither rare nor a problem. Overall, they are not rare either. In Germany alone, around four million people suffer from it. On the other hand, they are indeed a big problem for those affected. The DocCheck Flexikon lists 179 different rare diseases alphabetically on the Internet. A fraction of reality. There are around 8,000 of these diseases. And this is where the real problem begins. In the doctor’s practice, a rare disease may appear only once, i.e. seldom, during his professional life. The doctor quickly and reliably recognizes a middle ear infection, enlarged tonsils or infections of the airways. Here the path from the symptoms to the diagnosis is short and safe. Genetic causes, on the other hand, which lead to metabolic disorders and thus to stress on cells and organs, cannot be recognized by looking at them or by experience. Here, the first symptoms that appear in small children, for example, do not appear alarming at first, but rather harmless. Slight hearing loss, frequently recurring infections or uncertain movements. It is understandable that with such symptoms, no dramatic illness is initially suspected and that conventional treatment is therefore used.
Rare diseases are not imaginary diseases and parents of affected children, who most are, should not feel overly sensitive or hysterical. On the contrary. With their perseverance, they are the engine of a necessary diagnosis. You can only treat diseases that you know and recognize. If the doctor can offer neither explanations nor solutions, a painful medical odyssey usually begins. The disease progresses and valuable time is lost.
If it becomes apparent that the disease is associated with increasing limitations and disabilities, parents should seek medical reorientation. If conventional methods are unsuccessful, special clinics or genetic tests must also be considered. The Internet can offer valuable support in this reorientation. Helpful information is primarily provided by self-help organizations that facilitate the exchange of information and the passing on of practical knowledge. The Alliance for Chronic Rare Diseases (ACHSE) with the website www.achse-online.de provides a good introduction to the spectrum of these organizations. Other websites that should be used are those of MPS Germany and the National Action Alliance NAMSE.
Supress
Editor Detlef Brendel
Contact
Supress
Detlef Brendel
Graf-Adolf-Strasse 41
40210 Düsseldorf
0211/555545