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Rare diseases in China
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MOST rare diseases are genetic and present throughout a person’s life, even if symptoms do not immediately appear.
Their rare incidence has led to slower advancement in treatment.
Osteogenesis Imperfecta (China Doll Disease)
This is a congenital disorder characterized by brittle bones. Patients are born with defective connective tissue or without the ability to make it. Repeated bone fractures may seriously disable or even kill sufferers.
There is no cure. Treatment is aimed at increasing overall bone strength to prevent fractures and maintain mobility. Most patients suffer fewer fractures after adolescence.
Hemophilia
Hemophilia is a hereditary disease that impairs the body’s ability to control blood clotting or coagulation. In severe cases, even a minor injury can result in blood loss lasting days or weeks, or even never healing completely.
In areas such as the brain or inside joints this can be fatal or permanently debilitating.
Hemophilia cannot be cured, but medication to improve coagulation can help relieve the symptoms. Related gene therapy research is under way.
Gaucher’s disease
This is a genetic metabolic disorder in which fatty substances accumulate in cells, damaging organs such as the liver and spleen and the central nerve system. The disorder is often characterized by bruising, fatigue, anemia, low blood platelets, enlargement of the liver and spleen and painful, fragile bones.
People affected most seriously may also be more susceptible to infection.
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