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Loser in the gene roulette

A documentary on living with Rare Diseases such as Barth syndrome, cystic fibrosis, metachromatic leucodystrophy, immune deficiency and Huntington’s disease; by Edith Bachkönig (currently available in German only)

Living life with a Rare Disease 

Defective genes are triggers for Rare Diseases that most people have not even heard
of: phenylketonuria, Barth Syndrome, immunodeficiency, cystic fibrosis, and Huntington’s disease. Although these Rare Diseases affect only a small number of people, their impact is that much harsher.

Small children affected by metabolic disorders can suddenly fall into a coma because their body cannot absorb any fat. Babies with Barth syndrome can suffer from a heart attack while their parents tremble with fear for their child’s life. Knowing that their children or partners cannot be cured is very difficult for family members as well.

For most of the approximately 6,000 rare hereditary diseases, there is no medication. One can only ease the symptoms or slow the course of the diseases, as is the case with Huntington’s disease. This disease usually appears between the ages of 30 and 40 and cannot be stopped. The brain is attacked as a result of the defective gene and those afflicted unlearn how to speak, how to swallow and how to walk in just a few years. They become 40 year-old dependents who do not fit into any care concepts and who survive through the help of their families.

Some diseases such as immunodeficiency often go unrecognized and those affected suffer their entire lives from colds, pneumonia, and diarrhea that can last for weeks. Thankfully, there are drugs that can be used to provide those suffering from immunodeficiency with a normal life as soon as they are diagnosed. However, it is often only by pure chance that the disease is recognized.

A disease is labeled as rare when one in 2,000 citizens is affected by it.

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