"Porcelain dolls," "puppet people," "moon children"... These seemingly beautiful names correspond to the medical terms: osteogenesis imperfecta, multiple sclerosis, albinism... They share a common name—rare diseases. Rare diseases is a collective term for diseases with extremely low incidence rates. Statistics show that more than 7,000 rare diseases have been confirmed worldwide. Rare diseases not only bring pain and distress to patients but also increase the burden on families. Since the 18th National Congress of the Communist Party of China, China has made comprehensive arrangements for the diagnosis, treatment, and research of rare diseases, requiring strengthened safeguards for rare disease medications and prevention and control of major diseases, achieving breakthroughs from "0 to 1" in many aspects.

　　At 12 noon on February 22, at the *** rare disease consultation platform led and created by Peking Union Medical College Hospital, a multidisciplinary consultation for rare diseases began. Inside the consultation room, more than 30 doctors from various departments of Peking Union Medical College Hospital, including dermatology, internal medicine, neurology, orthopedics, radiology, plastic surgery, and psychology, were carefully listening to the patient's condition presentation. Outside the consultation room, rare disease patient Xiao Ming and his mother were waiting. In 2015, Xiao Ming's body showed abnormalities, and from then on he embarked on a long road of seeking medical treatment.

　　The incidence of rare diseases is extremely low. The World Health Organization once defined rare diseases as diseases with a patient population between 0.65‰ and 1‰ of the total population. Countries around the world have different criteria for determining rare diseases, but all are adapted to their own socioeconomic development. Because rare diseases have low incidence rates and often involve multiple disciplines, the difficulty of diagnosis is a major challenge faced by rare disease patients.

　　Zhang Shuyang, Chair of the Rare Disease Branch of the Chinese Medical Association and President of Peking Union Medical College Hospital, introduced that this is also a common challenge faced worldwide—difficulty in confirming diagnosis and difficulty in diagnosis. Because people do not recognize them, and it is also difficult for patients, who do not know which department to visit or where to go to get a diagnosis.

　　Rare diseases have numerous causes and complex symptoms, and there are few doctors who can treat rare diseases. The diagnosis of a rare disease often requires multidisciplinary joint diagnosis. At present, many hospitals lack diagnostic capabilities and related diagnostic technologies, and various reasons ultimately lead to the difficulty of diagnosis for rare disease patients. Data shows that rare disease patients spend an average of 5.3 years and experience 2 to 3 misdiagnoses before receiving a confirmed diagnosis.

　　At the consultation site, doctors carefully examined Xiao Ming's symptoms and inquired about his condition. Doctors from various departments conducted in-depth analysis of Xiao Ming's examination results and condition from the perspectives of different professional disciplines. After the consultation, they confirmed Xiao Ming's disease, which has a global prevalence of approximately one in a million. Regarding Xiao Ming's next steps in treatment, the doctors also proposed their respective treatment plans and recommendations.

　　For the treatment of rare diseases, accurate diagnosis is the prerequisite. Since 2018, such multidisciplinary consultations for rare diseases have been held as scheduled every Thursday, except during the Spring Festival holiday. Based on this "one-stop" diagnostic and treatment platform with top-tier medical resources in China, the confirmation time for rare diseases has been shortened from 4 years to 4 weeks, and patient costs have been reduced by 90%.

　　Zhang Shuyang introduced that at this consultation platform, a key aspect is training and cultivating our doctors to improve their skills and ability to diagnose rare diseases. The consultations now radiate to more than 100 hospitals nationwide through online public access, improving the national level of diagnosis and treatment, so that patients no longer face difficulties and can be diagnosed in the shortest possible time. We have such concepts, beliefs, and persistent pursuit, and no one gives up.

　　To solve the problem of difficulty in diagnosis for rare disease patients, improving doctors' awareness and diagnostic and treatment levels for rare diseases is even more critical. Besides the multidisciplinary consultation platform for rare diseases, what other measures have relevant departments taken?

　　Li Dachuan, Deputy Director of the Medical Administration Department of the National Health Commission, introduced that in recent years we have done some work to improve the diagnosis, treatment, and management of rare diseases. We established an expert committee for rare disease diagnosis, treatment, and safeguards, leveraging expert strength, and established a nationwide rare disease diagnosis and treatment collaboration network including 324 hospitals. Rare disease patients can go to these hospitals for diagnosis and treatment, reducing blind medical visits.

　　The National Rare Disease Diagnosis and Treatment Collaboration Network was formed by 324 hospitals selected nationwide to provide relatively centralized diagnosis and treatment and two-way referrals for rare disease patients, fully leveraging the radiating and driving role of high-quality medical resources. In May 2018, the National Health Commission and four other departments jointly announced China's "** Batch Rare Disease Catalog," which included 121 rare diseases. In February 2019, China's first "Guidelines for the Diagnosis and Treatment of Rare Diseases" was released.

　　Zhang Shuyang introduced that the "Guidelines for the Diagnosis and Treatment of Rare Diseases" includes a medication manual, giving doctors something like a textbook, clearly stating what the main symptoms of each disease are, what the clinical manifestations are, what examinations are needed, and what the currently effective treatment plans are.

　　In April 2019, the National Rare Disease Direct Reporting System began operation, providing a basis for ascertaining the number of rare disease patients in China. In September 2023, the National Health Commission, together with six ministries and commissions, released the "Second Batch Rare Disease Catalog," increasing the number of rare disease catalog entries to 207.

　　By building a diagnosis and treatment collaboration network, formulating diagnosis and treatment standards, strengthening training for medical personnel, promoting multidisciplinary consultation models, and establishing rare disease quality control centers, China's level of rare disease diagnosis and treatment has steadily improved.

　　Ms. Wu is a patient with transthyretin amyloid cardiomyopathy, commonly known as an "amyloid person." "Amyloid people" are one type of rare disease patient. Because transthyretin in the body dissociates and becomes amyloid fibrils, it deposits in the heart, kidneys, peripheral nerves, and other areas, causing corresponding damage.

　　Tian Zhuang, Chief Physician of the Cardiology Department at Peking Union Medical College Hospital, introduced that when it deposits in the heart, it causes heart function problems. On average, the survival period after heart failure—what we call median survival—is five years. Around the fifth year, about half of patients die, so the mortality rate is quite high.

　　At the time, what made Ms. Wu and her family feel despair was that her disease had no cure in China. Difficulty in accessing medication is another major challenge faced by rare disease patients. The vast majority of rare disease patients face problems of difficult treatment and drug shortages. According to the World Health Organization, among the more than 7,000 rare diseases identified globally, fewer than 10% have approved corresponding treatment plans or drugs, and most require lifelong drug treatment.

　　For many rare disease patients, the difficulty of accessing medication is also reflected in "having drugs but being unable to afford them." Rare disease drug research and development is difficult, with complex production processes, high investment, and long cycles. At the same time, because the patient base is small, research and production costs need to be spread across each drug, resulting in most existing rare disease drugs being extremely expensive. So how can the accessibility of rare disease medications be improved and this pain point that has long troubled rare disease patients be resolved?

　　Li Dachuan introduced that we have done a lot of work in this regard. For example, the drug regulatory authorities have a green channel for approving drugs designated for inclusion in the rare disease catalog, and science and technology departments also provide some support for drug research and development for rare disease types included in the catalog. At the same time, if imported drugs for rare diseases within the disease catalog are involved, some convenience is provided during import, and tax authorities also reduce or exempt some taxes.

　　In recent years, rare disease patients have received increasing attention from all sectors of society. In the spirit of the principle that on the path of building a Healthy China, not one person should be left behind. Starting in 2018, the National Healthcare Security Administration launched medical insurance access negotiations and centralized volume-based procurement for rare disease treatment drugs to alleviate the problems of difficult and expensive medication for rare disease patients. The national centralized volume-based drug procurement policy mainly adopts a strategy of exchanging volume for price for drugs with relatively full competition and multiple generic drugs that have passed consistency evaluation, thereby lowering drug prices.

　　The medical insurance negotiation drug policy mainly targets the problems that drugs needed by rare disease patients are difficult to buy and difficult to reimburse. It adopts access negotiations to reduce prices and include drugs in medical insurance, focusing on including drugs with high clinical value, reasonable prices, and the ability to meet basic medical needs in the catalog.

　　Huang Xinyu, Director of the Pharmaceutical Service Management Department of the National Healthcare Security Administration, introduced: First, optimize the access procedures and promptly include eligible rare disease medications in the medical insurance catalog. We have established annual adjustments, achieving dynamic and regular adjustment of the medical insurance catalog. In the catalog adjustment process, rare disease medications are given preference in all stages, including application, review, and calculation. Second, we conduct catalog negotiations to reduce the medication burden on rare disease patients. Third, we have established a dual-channel system, creating a nationwide dual-channel mechanism in which designated medical institutions and designated retail pharmacies simultaneously supply drugs, continuously improving the supply guarantee level for rare disease medications.

　　At the end of 2019, the world's ** and ** approved oral drug for treating "amyloid people," tafamidis soft capsules, was approved for marketing abroad. Just a few months later, tafamidis soft capsules were approved for marketing in China.

　　In December 2021, the innovative rare disease drug tafamidis, together with six other innovative, clinically urgently needed rare disease treatment drugs, was included in the ** edition of the "National Catalog of Drugs for Basic Medical Insurance, Work-Related Injury Insurance, and Maternity Insurance." Ms. Wu was one of the first patients to use this drug. The drug price dropped from more than 17,000 yuan per month to more than 2,000 yuan per month. After two years of medication, Ms. Wu's condition has not continued to deteriorate, bringing hope to the patient and the entire family.

　　2023 was also called a "big year for national negotiations" of rare disease drugs, with 15 drugs rapidly entering the medical insurance catalog, the highest number in nearly three years, covering 16 rare diseases, including neurofibromatosis type I and myasthenia gravis, filling medication safeguard gaps for 10 disease types.

　　On January 1, 2024, the "new edition of the National Medical Insurance Catalog" came into effect. In January alone, 37 rare disease medications within the negotiated access agreement period benefited more than 220,000 patient visits. Through negotiated price reductions and medical insurance reimbursement, the burden was reduced by an average of about 5,500 yuan per patient visit.

　　In recent years, independently developed rare disease drugs have been continuously successfully developed and approved for marketing. More and more rare disease drugs are being included in the medical insurance catalog through national negotiations, and the scope of medical insurance reimbursement for rare diseases is also continuously expanding. At present, more than 100 rare disease drugs have been marketed in China, and more than 80 have been included in the medical insurance reimbursement scope, greatly reducing the economic burden on patients' families.

　　Rare diseases are not only a medical scientific issue but also a social livelihood issue and a public governance issue. The diseases are rare, but our attention must not be rare. China has a large population base, and the number of rare disease patients is not small, behind whom are even more families. Therefore, the prevention and treatment of rare diseases also requires the joint efforts of relevant government departments, medical institutions, society, and all other sectors, to together light up the light of life for rare disease patients and give their families the light of hope.