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Rare diseases in China, their high treatment costs, and the people publicising patients’ plight

  • Twenty million people suffer from rare diseases in mainland China but of the 121 rare conditions on the government register, none entails free treatment
  • In February a foundation staged a drama performance featuring 15 patients with rare diseases to mark Rare Disease Day

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Rare disease sufferers who performed in the drama “Rare Hug” in Beijing in February to raise awareness of the plight of the estimated 20 million people in China with rare diseases. Photo: Simon Song
Elaine Yauin Beijing

Pan Longfei is afflicted with Kallmann syndrome, a rare genetic disorder that prevents sufferers from fully completing puberty. The 30-year-old lacks such male attributes as armpit hair, an Adam’s apple and a beard. He also suffers from osteoporosis, epilepsy and heart disease.

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He says his classmates made fun of him at school. “They said I sounded like a girl.”

His feminine features have caused him problems in his adult life, too.

“When applying for a bank card, some tellers said I was a girl, contradicting the male gender on my identity card. They refused to let me open a bank account. Embarrassing encounters in toilets where men have problems with me using the male toilet are also common,” he says.

Twenty million people suffer from rare diseases in mainland China, according to the non-profit Illness Challenge Foundation in Beijing, which works with other groups to raise awareness of these illnesses and the plight of the people who have them.

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According to Genetic Alliance UK, a charity that supports people affected by genetic conditions, the European Union defines a rare disease as one that affects less than one person in every 2,000. There are between 6,000 and 8,000 known rare diseases in the world. Patients often suffer from delayed diagnosis and scant and costly treatment, as drug manufacturers frequently consider it a bad investment to develop drugs to treat such small groups of people.

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