Families Unite to List a Rare Disease in Official Catalog

Neurofibromatosis has no cure and affects some 800,000 people in the country.   

By Zhu Jingyi and Ni Dandan

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

The two brothers from the southwestern Sichuan province live with a little-known disease called neurofibromatosis that is 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 finance treatment that helps ease their condition.

The Yang brothers are among the 800,000 people in China who live with the rare disease that has no cure. Their plight was featured in a documentary released by Bubble Home, the country’s only nonprofit organization 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 facing many patients who have the rare disease in China. The nonprofit was founded in 2019 in Shenzhen by NF patients and their families.

“Such challenges are still the same as three years ago,” said Zou, whose son suffers from the disease. “Although families are strong-willed in making efforts for their children, they have been limited by their low education level and limited income.”

However, many patients and their families face an uphill battle, as NF is yet to be officially recognized as a rare disease in China or included in the country’s list of rare diseases. That’s why the center is using patients’ personal stories to spread awareness of their struggles.

Bubble Home has been funding its own research by cooperating with laboratories across the country. Meanwhile, some NF treatments have entered clinical trials in China.

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

“This means hope,” Zou said. “Even if the treatment fails to arrive in time for the adult patients, the pediatric patients might have a chance to access them.”

Experts also said Sunday that apart from medical treatment, it was important to make people aware of comprehensive diagnosis and psychological outreach for patients.

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

Editor: Bibek Bhandari.

(Header image: RUNSTUDIO/Getty Creative/VCG)