The 29th is International Rare Disease Day. Bringing scientific treatment closer to patients and making patients' burdens lighter has become a direction of continuous effort for doctors and patient organizations.

PNH refers to paroxysmal nocturnal hemoglobinuria. Professor Han Bing, chief physician of the Department of Hematology at Peking Union Medical College Hospital, said in an online interview with reporters on the 29th that this is a highly representative rare disease: extremely rare and very harmful. Han Bing said that although the number of patients is small, patients often develop severe anemia, thrombosis, and renal impairment; some patients even develop organ failure, with a mortality rate of about 30% at 5 years, and a 10-year survival rate significantly lower than that of normal people.

"The onset age of PNH patients is mostly 20 to 40 years old, young and middle-aged adults." Han Bing said that these people are at life milestones such as job hunting, marriage, and childbearing, and the disease causes anemia, hematuria, physical fatigue, and loss of working ability, depriving them of the right to a normal life. The risk of thrombosis in PNH patients is 50 times that of normal people, and the risk of acute renal failure is more than 10 times that of normal people. Some patients will have problems with smooth muscle dysfunction.

It is understood that among the rare diseases that have been discovered, many still cannot be treated at present; however, PNH patients have drugs that can treat them. C5 complement inhibitors represented by eculizumab have "come onto the market" and changed the natural course of the disease, allowing patients' survival to approach that of normal people while improving their quality of life. However, patients need lifelong treatment to relieve related symptoms, thereby reducing the incidence of thrombosis and lowering the probability of death due to renal failure and other causes. Professor Han Bing pointed out that this means patients can return to society.

It is reported that eculizumab has currently been launched in China and included in medical insurance. Han Bing told reporters that the hematology department of her hospital has joined with the rare disease department and begun treatment within the hospital. However, to enable more PNH patients to benefit from eculizumab, many practical problems still need to be solved, such as transportation issues and out-of-town medical insurance reimbursement issues. This requires more attention and policy support so that patients can use the drugs more conveniently.

Xiaojie (pseudonym) from Kashgar, Xinjiang, was diagnosed with PNH at the end of 2021. She told reporters in an interview that before being included in medical insurance, the price she paid for one bottle of the drug was 20,000 yuan, and her annual treatment cost was nearly 500,000 yuan; after eculizumab was included in medical insurance, she only needed to pay 2,518 yuan out of pocket for one bottle. This greatly reduced Xiaojie's financial burden.

Speaking about the accessibility of rare disease drugs, Jiajia, founder of the PNH Patient Home, said in an interview with reporters that the main patient group for PNH is young and middle-aged adults. Long-term illness and physical weakness have caused them to lose many opportunities for study and employment, so their financial burden and disease burden are both very severe. Professor Han Bing pointed out that the inclusion of rare disease drugs in medical insurance is very important, and the establishment of a rare disease department in her hospital is a pioneering exploration. She pointed out that this greatly improves drug accessibility. However, she hopes that in the future medical insurance reimbursement can realize a dual channel (hospitals and pharmacies), rather than only drugs prescribed by hospitals being eligible for medical insurance.

Professor Han Bing, who has been engaged in rare disease treatment for many years, admitted that in China there are very few full-time rare disease doctors, and most doctors carry out rare disease treatment alongside the diagnosis and treatment of common diseases. The "Rare Disease Catalog" published twice by the state in 2018 and 2023 includes more than 200 rare diseases in total. "However, to diagnose and treat rare diseases, doctors need to make more efforts to achieve true 'specialization.'" Han Bing said frankly that there is a huge gap in clinical demand across the entire rare disease medical community, from the perspective of doctors; the same is true in fields such as nursing and testing.

In an online interview, Professor Chen Hao, director of the Drug Policy and Management Research Center at Tongji Medical College of Huazhong University of Science and Technology, said frankly that at present, although more and more rare disease drugs have been included in medical insurance, there are still difficulties that need to be solved in practice. Xiaojie told reporters that there are still some difficulties in purchasing drugs in her city. She needs Professor Han Bing to help contact drug purchases, and then the drugs are transported to Kashgar, Xinjiang, via cold-chain logistics. One drug purchase takes about a week.

On how to bridge the "last mile" of drug accessibility for rare disease patients, Professor Chen Hao said frankly that for medical institutions, the scale of drug use is always limited and cannot be expanded indefinitely. The provision of rare disease drugs must be based on many factors such as the hospital's specific diagnostic and treatment capabilities, scope, and level, and plans must be formulated scientifically and reasonably; requiring universal full provision is unrealistic and unscientific. In this expert's view, regional diagnostic and treatment centers undertaking rare disease diagnosis and treatment can equip relevant drugs according to the epidemiological incidence and the overall situation of patients; in terms of provision plans, big data can be used to intelligently manage the supply chain and optimize the entities responsible for providing rare disease drugs.

Regarding the cost of rare disease drugs, Professor Chen Hao believes that only by exploring the establishment of a multi-party co-payment and shared-burden mechanism to ease patients' drug burden can more patients benefit from treatment with innovative drugs. In this regard, Professor Sun Jie, a member of the National Committee of the Chinese People's Political Consultative Conference and vice dean of the School of Insurance at the University of International Business and Economics, said in an interview that for overseas innovative drugs, government departments should encourage drug imports and include them in priority review and approval channels; Chinese large pharmaceutical distribution enterprises should be encouraged to cooperate with relevant domestic and foreign pharmaceutical companies to accelerate the introduction of drugs. For drugs that cannot be introduced, such as those not within the patent period or protection period, domestic generic production can be encouraged. Sun Jie hopes to enhance the sustainability of inclusive medical insurance and its effectiveness in protecting against rare diseases, and looks forward to more rare disease patients diversifying risks through inclusive medical insurance.

As the founder of a patient organization, Jiajia also said that at the doctor level, she hopes experts can organize more continuing education and academic activities so that more doctors, especially grassroots doctors, can understand related diseases. For suspected patients, relevant testing should be carried out so that they have the opportunity to receive an early confirmed diagnosis; for patients themselves, she hopes patients can learn more about PNH disease knowledge, including how to exercise, adhere to drug treatment, self-management, and so on. In her view, every patient should value their own health, because this is not an individual issue but a family issue.