BEIJING, Feb. 28 (Xinhua) -- When Ms. Liu, a cancer patient, picked up a box of medication at the hospital pharmacy, she felt an overwhelming sense of relief.

She had just become the first person in China to receive a prescription for Mitotane, the only drug approved for treating adrenocortical carcinoma -- a rare, aggressive cancer that affects the adrenal glands.

Just 48 hours after Mitotane was approved for marketing in the Chinese mainland on Jan. 7, the drug arrived at Peking Union Medical College Hospital (PUMCH), a national leader in rare disease diagnosis and treatment.

The medication was promptly prescribed to 10 patients like Liu, who had traveled from across the country to access this life-saving treatment. "Finally, the day has come!" they exclaimed, no longer dependent on sourcing the drug from overseas.

Adrenocortical carcinoma is exceptionally rare, with an incidence rate of just one in a million and a five-year survival rate of approximately 30 percent. Radical surgery is the preferred treatment, but many patients, diagnosed at advanced stages or with metastases, are left with Mitotane as their only option.

"I look forward to the day when Mitotane is covered by medical insurance," Liu said, filled with hope for the future.

For the 20 million rare disease patients in China, accurate diagnoses, timely treatment, and affordable medications are shared goals. As the country makes significant strides in tackling rare diseases to fulfill its promise of ensuring health for its 1.4 billion people, patients like Liu are finding new rays of hope.

LONG-AWAITED BREAKTHROUGHS

An AI large language model -- PUMCH-GENESIS, a collaboration between PUMCH and the Chinese Academy of Sciences -- unveiled earlier this month is revolutionizing rare disease diagnosis in China, making what was once a long and uncertain process faster and more accurate.

By entering symptoms like "significant developmental delays in mobility, language, and social interaction since age two" into a simple dialogue box, PUMCH-GENESIS can instantly generate alerts for potential rare genetic disorders, such as Rett syndrome or Angelman syndrome, or even more complex neurodevelopmental conditions. It also provides instant medical recommendations, directing patients to specialized departments and suggesting necessary tests.

As Zhang Shuyang, president of PUMCH, explained, this tool is built upon years of effort by Chinese medical experts, leveraging accumulated rare disease and genetic data and research.

A survey by the China Alliance for Rare Diseases (CARD) in 2020 found that rare disease patients in China typically wait over four years for a diagnosis, with some remaining undiagnosed for life.

Li Linkang, executive director of the CARD, recalled that less than a decade ago, some would say "experts in rare diseases in China were rarer than the diseases themselves." "That has changed," he said, crediting the progress to a national collaborative network connecting hundreds of hospitals that facilitates case transfers, telemedicine, and data sharing.

Launched in 2019, the network has expanded from 324 medical institutions to 419 in 2024, covering all provincial-level regions. This collaboration has cut the average diagnosis time for rare disease patients from four years to under four weeks while reducing diagnosis costs by 90 percent, according to Zhang.

With the introduction of AI, diagnosis times are expected to shrink even further. PUMCH plans to integrate the AI model into its online multidisciplinary rare disease clinic and expand it across the entire collaborative network.

The beginning of 2025 has ushered in further positive developments, boosting optimism among rare disease patients in China.

On. Jan. 1, the latest update to the national medical insurance drug catalog took effect, adding 13 new "orphan drugs" -- treatments for rare diseases. With more than 90 "orphan drugs" now eligible for reimbursement, more patients have been relieved from the burden of expensive medical costs.

In the same month, two medical foods for children with rare metabolic disorders, including phenylketonuria, methylmalonic acidemia, and propionic acidemia, received product registration in China. This milestone, achieved through an expedited process, marks the first approval of domestically produced treatments for these conditions.

To better improve patient access, Yang Yue, a researcher at Tsinghua University's School of Pharmaceutical Sciences and an official at the National Medical Products Administration, is advocating for enhanced policy support.

"The government should encourage domestic pharmaceutical companies to invest in rare disease drug research and development, and to create sustainable research mechanisms," Yang said.

CROSS-BORDER SOLUTIONS

China's progress in combating rare diseases is also making waves beyond its borders, offering both physical and emotional relief to individuals with rare conditions worldwide.

On Friday, which marks the 18th Rare Disease Day, a one-year-old patient from Vietnam with a rare genetic disorder was discharged from a hospital in Guangxi, southern China, after a successful hematopoietic stem cell transplant and a smooth recovery.

In recent years, The First Affiliated Hospital of Guangxi Medical University, a member of the national network for rare disease diagnosis and treatment, has received numerous patients, including many from neighboring ASEAN countries.

In 2024, a research paper by Chinese medical experts prompted a desperate family from Sweden to travel to China in search of treatment for their baby girl, diagnosed with a rare hereditary disease.

In October, the two-year-old completed a three-month gene therapy treatment in Guangdong. Thanks to timely intervention, the child is expected to lead a normal life moving forward.

"Rare diseases are a global issue; they don't recognize borders," Li with the CARD noted, emphasizing the importance of strengthened international cooperation. "We must all work together to share medical advancements, improving access to rare disease diagnosis, treatment, and medications."