HENAN, Central China — “When I was in sixth grade, my classmates thought I was pregnant when they saw my swollen belly,” says Fang Haoran, a 15-year-old boy with the rare genetic disorder Gaucher disease.

The condition — which can cause a distended abdomen, skeletal abnormality, and blood disorders — affects 1 in 50,000 to 1 in 100,000 people and has no known cure. It was included among 121 conditions included on China’s first national list of rare diseases, published last year, in theory prioritizing it for research, clinical trials, and insurance coverage. But while the move has been a big step for those with rare diseases, in practice it is more of a guideline, and large gaps remain when it comes to health insurance.

Because of local regulations not covering treatment costs, patients like Fang face staggering medical bills and end up mired in debt. Cerezyme, a medication that entered China a decade ago, is the only effective treatment for Gaucher disease in the country. One treatment of Cerezyme costs about 23,000 yuan ($3,250), and dosage is based on body weight. An average adult needs about eight treatments a month, which can add up to over 2 million yuan a year.

For Fang, the treatment is necessary and effective. His enlarged spleen and liver grew smaller two months after taking the medicine. If he were to stop receiving treatment, his abdomen would swell again, and he would risk further complications.

Some provinces and cities have added Gaucher disease treatments to their health care systems in a bid to alleviate financial strain on patients. In the coastal city of Qingdao, for example, public health insurance can cover up to 80% of Cerezyme treatments. However, because Fang lives in the central Henan province, she must foot the entire bill.

Fang Linyu, Fang’s father, decided it was time for action. For the past four years, he and other Henan families with Gaucher disease patients have been campaigning to get treatments for the condition covered by insurance. Together, they have raised the issue on various platforms. They’ve achieved limited success so far, but Fang Linyu knows the stakes are high. “We wouldn’t be able to afford the medicine for many years, even if I were a millionaire,” he says.

Editor: Hannah Lund.

(Header image: A girl diagnosed with Gaucher disease sits near a carousel in Xuchang, Henan province, 2019. Courtesy of ML Photo)