Patient afflicted with rare disease

Patients afflicted with rare diseases are single-handedly waging a two-pronged attack - against the disease and against the authorities that sometimes stand in the way of effective action and care.

Approximately 50,000 people in Israel are afflicted with rare diseases, the nearly all well known among them being Sturge Weber syndrome, Williams syndrome, Kindler syndrome and Huntington's diseases. Researchers and doctors are aware of around 5,000 kinds of rare diseases. According to Ministry of Health data, approximately 4,500 babies are born each year in Israel with genetic defects.

According to Prof. Gideon Bach, the director of the genetics department at Hadassah Hospital, Ein Kerem, the incidence of rare diseases in Israel is slightly higher than the frequency in Western countries because of the high incidence here of marriages between cousins. Most of the rare diseases are genetic and affect many body systems. Some of the diseases are discovered at birth and some come out at an older age. In many cases, the diseases are never correctly diagnosed. 

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