From rarity to recognition: A brighter future for rare disease patients

Today marks the 19th Rare Disease Day. Defined by the World Health Organization, each individual rare disease affects just 0.65 to 1 per 1,000 people. Until now, more than 7,400 rare diseases are known worldwide, affecting over 420 million patients collectively. In China alone, the rare disease population is estimated to have exceeded 60 million.

Once, misdiagnosis, limited access to medicines, and high medical costs were a painful reality for every family affected by rare diseases. Today, however, thanks to the steady progress of China's rare disease diagnosis and treatment, a nationwide diagnosis and treatment collaboration network, strengthened policies, and advances in cutting-edge technologies are gradually bringing rare diseases into the spotlight. Diagnosis and treatment have become far more accessible, lighting up the lives of millions of patients and their families.

A national network for rare disease diagnosis and treatment

For those with rare diseases, securing an accurate diagnosis is often the initial hurdle. Studies show that 42 percent of them have been misdiagnosed, and those not diagnosed immediately wait an average of 4.26 years for a clear answer. Many have no choice but to travel far from home simply to get diagnosed.

This situation is now being transformed by multidisciplinary (MDT) care and China's national network to collaborate on diagnosis and treatment of rare diseases. Peking Union Medical College Hospital (PUMCH) launched the country's first rare disease MDT center on February 28, 2019, and has held weekly consultations every Thursday ever since, completing 330 sessions for complex and rare conditions.

According to Dr Shen Min, director of the hospital's Rare Disease Department, rare diseases are extremely diverse and complex, making single-specialty care insufficient. The hospital's MDT brings together over 20 specialties, offering patients one-stop diagnosis and treatment. More than 400 hospitals in the national network also join online, raising standards nationwide.

Today, the network covers 419 hospitals across all provinces with efficient referral systems. The average diagnostic time has dropped from more than four years to just four weeks, and average annual treatment costs have fallen by roughly 90 percent. Rare disease care has shifted from individual efforts by single doctors or hospitals to a coordinated, nationwide team effort.

Policy support ensures access to rare disease drugs and affordable care

Having access to effective medicines is a top priority for rare disease patients. To fill gaps in treatment and lower costs, multiple departments have rolled out targeted policies in recent years, building a strong safety net for patients.

Rare disease prevention and treatment has been included in the Healthy China 2030 Initiative. The National Health Commission has released two lists of rare diseases, covering 207 conditions in total, providing clear guidance for diagnosis and care. The National Medical Products Administration has set up a green channel for the review and approval of rare disease drugs, greatly speeding up new drug launches while simplifying temporary imports. Last year alone, 48 rare disease medicines were approved, effectively filling clinical shortages.

On cost protection, China's dynamic medical insurance listing mechanism has increasingly prioritized orphan drugs. More than 100 rare disease medicines are now covered by national medical insurance.

Technology unlocks new hope

Beyond improved diagnosis and treatment models and stronger policies, cutting-edge technology is opening up new possibilities for rare disease care.

During last year's International Rare Disease Day, PUMCH-GENESIS, China's first large AI model dedicated to rare diseases, was officially launched. In its first year the model has conducted more than 9,000 effective medical consultations and helped over 1,000 rare disease patients receive a confirmed diagnosis.

In the future, this AI-assisted diagnostic system will be upgraded into a comprehensive AI clinical research and application platform covering all rare disease types. Integrated with scientific AI agents for proteomics and drug discovery, it will explore cutting-edge therapies such as gene therapy, small-molecule drug development and cell therapy for patients with no existing treatments, aiming to deliver effective solutions in a shorter time.

These changes have brought hope to countless patients and their families, and filled people with optimism for the future. Every life deserves to be protected, and no community should be left behind. On the 19th Rare Disease Day, the world celebrates the remarkable progress made in rare disease care, while looking forward to even greater breakthroughs ahead.

With a stronger diagnosis system, continued policy support, and the steady power of science and technology, the word "rare" will one day no longer mean "forgotten."

CGTN has previously presented a moving documentary featuring patients and frontline efforts against ALS, a severe and rare neurological disorder. On this significant day, we invite you to look back on their courage and resilience, and watch the story.

（All photos via VCG)