Rare diseases, though individually uncommon, collectively impact millions of people worldwide. The journey to diagnosis and treatment for patients with these conditions has historically been fraught with challenges, often taking years and imposing significant emotional and financial burdens on families.
In recent years, the Chinese mainland has made remarkable strides in addressing these challenges. According to Zhang Shuyang, president of Peking Union Medical College Hospital, the average diagnosis time for rare diseases has been reduced from four years to less than four weeks. Speaking at the 2024 China Conference on Rare Diseases held in October, Zhang highlighted that medical expenses for patients have dropped by 90 percent, and public awareness of rare diseases has surged from 31 percent to 69 percent.
“Early diagnosis is crucial for effective intervention,” said Zhang. “Our efforts are transforming the lives of patients and their families.”
Many rare diseases are linked to congenital genetic factors and are closely associated with birth defects. Yu Yanhong, an official from the National Health Commission of China, noted at the conference that there are over 8,000 known birth defects, many of which are classified as rare diseases. She reported that the Chinese mainland has seen a decrease of more than 50 percent in infant and under-five mortality rates caused by birth defects in 2023 compared to a decade ago. Significant reductions have been observed in major conditions like neural tube defects and Down Syndrome.
International experts have also recognized these advancements. Dr. Durhane Wong-Rieger, president of the Canadian Organization for Rare Disorders, praised China’s progress. “China has made so much progress in genetics and genomics,” she said in an interview with CGTN. “There are more gene therapy clinical trials in China than anywhere else in the world.”
The challenges posed by rare diseases extend beyond medical care, impacting entire families emotionally, socially, and financially. Early diagnosis and treatment not only improve health outcomes but also alleviate some of these burdens.
Experts are also discovering a growing number of rare diseases affecting older adults. This presents additional challenges, as symptoms may be mistaken for normal aging processes, making diagnosis more difficult.
The Chinese mainland’s comprehensive approach to addressing rare diseases—from cutting-edge research to increased public awareness—is setting a precedent in global healthcare. These efforts offer hope to millions of patients and signal a promising direction for tackling rare diseases worldwide.
Reference(s):
cgtn.com
