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Families unite to register a rare disease in the official Chinese catalog

Yang Jun has lost his hearing and is nearly blind. His younger brother Yang Chao also loses his hearing and speech.

The two brothers from the southwestern province of Sichuan live with a little-known disease called neurofibromatosis, commonly abbreviated as NF – a set of genetic disorders that cause tumors to grow on nerves in the brain and throughout the body. Aged 31 and 28, the brothers lost their parents when they were young and are now struggling to fund treatment that helps alleviate their condition.

The Yang brothers are among the 800,000 people in China living with this incurable rare disease. Their plight was featured in a documentary published by Bubble Home, the nation’s only nonprofit for NF patients, to mark Neurofibromatosis Awareness Day on May 17.

Zou Yang, a volunteer at Bubble Home, said low social acceptance and limited family support due to financial restrictions remain the realities faced by many patients with the rare disease in China. The nonprofit was founded in 2019 in Shenzhen by NF patients and their families.

“These challenges are still the same as three years ago,” said Zou, whose son suffers from the disease. “Although the families are determined to make efforts for their children, they have been limited by their low level of education and limited income.”

However, many patients and their families face an uphill battle, as NF has not yet been officially recognized as a rare disease in China or included in the country’s list of rare diseases. That’s why the center uses patients’ personal stories to publicize their struggles.

Bubble Home funded its own research by cooperating with labs across the country. Meanwhile, some NF treatments have entered clinical trials in China.

On Sunday, Bubble Home hosted an online conference to discuss progress and potential advances in the treatment of NF, including immunotherapy and gene therapy. Medical experts have noted that a drug for some neurofibromatosis patients may be available in 2024.

“It means hope,” Zou said. “Even if the treatment doesn’t arrive in time for adult patients, pediatric patients might have a chance to access it.”

Experts also said on Sunday that apart from medical treatment, it was important to raise awareness about comprehensive diagnosis and psychological care of patients.

“Psychotherapy is almost as important as clinical treatment,” said Wu Hao from the neurology department at Xuanwu Hospital in Beijing. “NF patients repeatedly suffer from the disease, and some of them have tumors on their faces. Psychological treatment should be taken seriously to help patients integrate into society.

Publisher: Bibek Bhandari.

(Header image: RUNSTUDIO/Getty Creative/VCG)