Rare diseases: Boy's skin petrified! THESE RARE DISEASES SHOCK NEARLY 6.000 rare diseases exist in the world – and the number is growing. Many diseases make life difficult for sufferers, as some cases prove: a man dies without water or a boy petrified.
On "Rare Disease Day should be made aware of rare diseases. Thanks to research, some people can already be treated. "In the European Union, a disease is considered rare if no more than 5 out of 10.000 people in the EU are affected by it", writes the Federal Ministry for Health. In total, there are about 6.000 rare diseases. On the platform Orphanet, many of them are listed. How people are doing with them, the lists do not show. Often the symptoms are severe and make life difficult for those affected, as the following cases show.
Doose syndrome: Children simply fall over
When children suddenly fall down or slump over, this may be Doose syndrome. This rare form of epilepsy affects about one in 10.000 children, In addition to these symptoms, twitching eyelids or a head that falls forward may also indicate the condition. It often occurs between one and five years of age, writes the German Medical Association and the National Association of Statutory Health Insurance Physicians in an information brochure. Often the Disease with the years off. In some cases, seizures continue to occur, which can greatly affect mental development. Fortunately, there are medicines for the symptoms.
Disease without a name: Man suffers from rare skin disease
The situation is different for a young man from Germany. He has suffered from an extremely rare skin disease since birth. His entire body is covered with red eczema. His eyes are also very red and watery. "It is known to be a genetic defect", said Robin about the possible cause in the report of the radio format "The question". He lacks the top layer of skin and his skin renews 40 times a day, Robin explained. Besides, he does not sweat. There is currently no chance of a cure.
Stiff skin syndrome: Jayden's skin petrifies
For 15-year-old Jayden, his disease is not only a torment, but also life-threatening. Suffers from stiff-skin syndrome. In this disease, the skin becomes harder and harder. Doctors warnedJayden. His family already before the bad consequences. If he is not treated, the thickened skin also presses on his lungs. He would thus be buried alive. You can read the whole story again here.
Man must drink water or he will die
An educator from Bielefeld also fights against his disease. He has a rare hereditary disease. This causes it to be unable to retain water. For this he has to drink at least 20 liters of water every day – otherwise he would die. That's why he always carries water with him to avoid dying of thirst.