China News Service, Shanghai, February 29 (Reporter Chen Jing) The 29th is International Rare Disease Day.
Making scientific treatment closer to patients and making patients' burden lighter has become the direction that doctors and patient organizations are constantly working towards.
PNH stands for 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 very representative rare disease: super rare and very harmful.
Han Bing said that although the number of patients is not large, patients often suffer from severe anemia, blood clots, and kidney function damage; some patients even suffer from organ failure, and the mortality rate reaches about 30% in 5 years, and the survival rate is obvious in 10 years. lower than normal.
"The age of onset of PNH patients is mostly young adults between 20 and 40 years old." Han Bing said that these people are at life points such as job hunting, marriage, and childbirth. The disease causes anemia, hematuria, physical weakness, and loss of working ability, making them lose their ability to work. 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 have smooth muscle dysfunction.
It is understood that many of the rare diseases that have been discovered are still untreatable; however, there are treatments for PNH patients.
The advent of C5 complement inhibitors represented by eculizumab has changed the natural course of the disease, allowing patients to live closer to normal while improving their quality of life.
However, patients need lifelong treatment to relieve related symptoms, thereby reducing the incidence of blood clots and reducing the probability of death from kidney failure and other causes.
Professor Han Bing pointed out that this means that patients can return to society.
It is reported that eculizumab is currently on the market in China and has been included in medical insurance.
Han Bing told reporters that the hematology department of his hospital has joined forces with the rare disease department to start treatment in the hospital.
However, if more PNH patients can benefit from eculizumab, there are still many practical problems that need to be solved, such as transportation issues and medical insurance reimbursement issues in other places.
This requires more attention and policy support to make medicine more convenient for patients.
Xiaojie (pseudonym) from Kashgar, Xinjiang was diagnosed with PNH at the end of 2021.
She told reporters in an interview that before it was included in the medical insurance, she bought a bottle of medicine for 20,000 yuan, and her annual treatment cost was nearly 500,000 yuan; after eculizumab was included in the medical insurance, one bottle She only had to pay 2,518 yuan out of pocket for the medicine.
This greatly reduced Xiaojie's financial burden.
Talking about the accessibility of rare disease drugs, Jiajia, the founder of PNH Patient Home, said in an interview with reporters that the main people affected by PNH are young adults. They have been ill for a long time and are weak, which has caused them to lose many opportunities for education and employment. , so their economic burden and disease burden are very serious.
Professor Han Bing pointed out that it is very important for rare disease drugs to be included in medical insurance, and the establishment of a rare disease department in his hospital is a groundbreaking exploration.
She points out that this greatly improves access to medicines.
However, she hopes that in the future, medical insurance reimbursement can be implemented through dual channels (hospitals and pharmacies), instead of just drugs prescribed from hospitals being able to enter medical insurance.
Professor Han Bing, who has been engaged in rare disease treatment for many years, said frankly that there are very few full-time rare disease doctors in China, and most doctors treat rare diseases while diagnosing and treating common diseases.
The "Rare Disease Catalog" published by the country twice in 2018 and 2023 includes a total of more than 200 rare diseases.
"However, when it comes to diagnosing and treating rare diseases, doctors need to make more efforts to achieve true 'speciality'." Han Bing bluntly said that there is a huge clinical demand gap in the entire rare disease medical community, from the perspective of doctors; in nursing , inspection and other fields.
In an online interview, Professor Chen Hao, director of the Drug Policy and Management Research Center of Tongji Medical College of Huazhong University of Science and Technology, said bluntly that although more and more rare disease drugs are included in medical insurance, there are still difficulties that need to be solved.
Xiaojie told reporters that there are still some difficulties in purchasing medicines in his city.
She needs Professor Han Bing’s help to contact her to purchase medicines, and then transport them to Kashgar, Xinjiang through cold chain logistics. One purchase of medicines takes about a week.
How to bridge the "last mile" of drug accessibility for patients with rare diseases? Professor Chen Hao said frankly that for medical institutions, the scale of drug use is always limited and it is impossible to expand indefinitely.
The allocation of drugs for rare diseases must be scientifically and rationally formulated based on many factors such as the hospital's specific diagnosis and treatment capabilities, diagnosis and treatment scope, and level of diagnosis and treatment. It is unobjective and unscientific to require universal provision of all drugs.
According to this expert, regional diagnosis and treatment centers responsible for the diagnosis and treatment of rare diseases can allocate relevant drugs based on the epidemiological incidence and the comprehensive situation of patients; in terms of allocation plans, big data can be used to intelligently conduct supply chain management. , to optimize the allocation of drugs for rare diseases.
Regarding the cost of rare disease drugs, Professor Chen Hao believes that only by exploring the establishment of a multiple co-payment and sharing mechanism to ease patients' drug burden can more patients benefit from innovative drug treatments.
In this regard, Professor Sun Jie, a member of the National Committee of the Chinese People's Political Consultative Conference and deputy dean of the School of Insurance at the University of International Business and Economics, believed in an interview that for overseas innovative drugs, government departments should encourage the import of drugs and include them in the priority review and approval channel; China's large-scale pharmaceutical companies should be encouraged to Pharmaceutical distribution companies cooperate with relevant domestic and foreign pharmaceutical companies to accelerate the introduction of drugs.
For drugs that cannot be introduced, such as those that are not in the patent period or protection period, domestic imitation can be encouraged.
Sun Jie hopes to improve the sustainability of Huiminbao and its protection effectiveness for rare diseases, and looks forward to more rare disease patients diversifying risks through Huiminbao.
As the founder of the patient organization, Jiajia also said that at the doctor level, she hopes that experts can organize more continuing education and academic activities so that more doctors, especially those at the grassroots level, can understand related diseases.
For suspected patients, relevant tests are carried out so that they have the opportunity to be diagnosed as early as possible; for the patients themselves, she hopes that the patients can learn more about PNH disease, including how to carry out exercise, adhere to drug treatment, self-management, etc.
In her opinion, every patient should pay attention to his own body, because this is not a personal problem, but a problem for the entire family.
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