The production of the cheapest special-effect medicine for rare diseases has been discontinued! Tens of thousands of patients fall into a medication shortage

There are about 7000 kinds of rare diseases known in the world, only about 6% of which can be treated with drugsMost of the newly developed special drugs are very expensive, costing hundreds of thousands to millions of yuan a yearSodium Dimercaptopropanesulfonate, a specific drug for hepatolenticular degeneration (hepatolentipathy for short), is a new and old drugThe annual cost is estimated to be tens of thousands of yuan, which can be called the cheapest special drug for rare diseasesThere are about 20000-80000 people suffering from Wilson's disease in ChinaRecently, due to the relocation of the only raw material factory in the country, the drugs were temporarily stopped, and they fell into drug shortageThe shutdown was not an accidentThe price is cheap and the demand is smallIt needs to have the system arrangement to solve the R & D and production power of pharmaceutical enterprisesOn June 10, Zheng Fang, a 26-year-old girl, finally used 8 doses of sodium Dimercaptopropanesulfonate injectionThis medicine saved her life several years agoThis time, she hopes to make a systematic treatment to prepare for future marriage and childbirth< br / > Zheng Fang has been hospitalized in the Affiliated Hospital of Institute of Neurology, Anhui University of traditional Chinese medicine for 20 daysTo achieve the therapeutic effect, she needs more than 100 pieces, but a bad news comes: the drug is temporarily discontinued and the inventory is not enough< br / > Zheng Fang got a rare disease called hepatolenticular degeneration (referred to as "hepatolenticular disease")The main age of the disease is 5-35 years oldIn short, gene mutation causes dysfunction in the function of expelling copper from the body, so the patient is also called "copper Doll" In May 2018, the state released the catalogue of the first batch of rare diseases, which included 121 rare diseases and hepatolentiosis According to the estimation of different experts, there are about 2-8 people with hepatolenticular disease in China, with an incidence rate of 3/10 million < br / > only a few hospitals in China, including the Affiliated Hospital of Institute of Neurology, Anhui University of traditional Chinese medicine, can treat the disease Most of the patients are hospitalized for intravenous infusion of sodium Dimercaptopropanesulfonate, which is usually called "punching copper needles" to eliminate the accumulation of copper elements in the body Regular injection and oral copper discharging medicine can make patients live close to normal people < br / > there are about 7000 kinds of rare diseases known in the world, only about 6% of which have drugs to treat Even if there are special drugs, most of them are very expensive, costing hundreds of thousands to millions a year And sodium dimercaptopropanesulphonate, a 50 yuan, if a treatment needs 200, that is the cost of 10000 yuan, compared with other rare disease drugs, it is the cheapest special drug for rare diseases < br / > however, the price is cheap and the demand is small As a result, the pharmaceutical enterprises do not have the power to produce Recently, the only raw material factory in the country has been relocated, resulting in the temporary production suspension of drugs, and tens of thousands of patients are in trouble < br / > the difficult way of diagnosis < br / > Zheng Fang has been an old patient Previously, due to long-term misdiagnosis, she experienced the dark moment of "dying" < br / > according to Zheng Fang's self-report, when she was 10 years old (2004), her body began to change, "when she squatted down to pick up things, her knees would ache on both sides" At the beginning, the diagnosis of the old hospital in Enshi County, Hubei Province was "rheumatoid arthritis", and the treatment plans after that were also rheumatic therapy < br / > however, the pain did not improve, and then there were leg, hand and hair shaking symptoms, which not only affected writing, but also could not complete holding chopsticks, clamping vegetables and tying shoelaces < br / > before she graduated from junior high school, Zheng Fang could not go to school again At that time, she couldn't even speak clearly She had to eat hard She often coughed when drinking water, walked unsteadily, fell forward easily, and even couldn't stand up alone after falling At the most serious time, I fell down at home Because there was no one, I had to climb slowly on the ground "My knees were worn and bruised on the ground I finally got up two hours later." < br / > in April 2011, my mother even thought that Zheng Fang was "dying", holding the mentality of "death also needs to be understood, at least because of what death", my mother took Zheng Fang to the neurology department of a local third class hospital This time, Zheng Fang was pronounced a rare disease called hepatolenticular degeneration < br / > but most of the patients, like Zheng Fang, are difficult to be diagnosed in the early stage, and the misdiagnosis rate is very high Yang Renmin, honorary director of the Affiliated Hospital of the Institute of Neurology, Anhui University of traditional Chinese medicine, explained that on the one hand, due to the small number of cases, on the other hand, hepatolentiosis belongs to the Department of Neurology in the textbooks of medical students, and there is no such disease in the textbooks or reference books of liver diseases, while the damage caused by the accumulation of copper elements in the body varies from person to person, and different organ injuries and corresponding symptoms will appear in clinical practice, There may be central nervous system symptoms, or liver symptoms (acute hepatitis, chronic hepatitis, cirrhosis, splenomegaly, ascites, etc.) and other systemic symptoms The lack of experience of doctors in the corresponding symptom departments makes the diagnosis more difficult < br / > ran away from home to cure the disease < br / > finally knew what disease she had, but Zheng Fang was even more desperate, because the doctor told her that the disease was "incurable", and even obtained a disability certificate, which she most resisted < br / > in the following days, Zheng Fang will take a copper discharging and detoxifying drug called penicillamine prescribed by the doctor every day Maybe because of the verdict of "no cure", Zheng Fang felt despair and depression One year after taking the medicine, Zheng Fang's hair was almost all gone She still remembers the situation at that time, "her head was almost all gone, and a lot of small hairs grew when she dropped her hair." < br / > it was also Zheng Fang's dark period Her head was shaking badly, her walking was bumpy, her legs and feet were deformed, her speech was unclear, and her saliva flowed out incessantly < br / > one day at the end of 2013, Zheng Fang accidentally saw on TV that there was a hospital in Anhui that could treat her disease Just after the Spring Festival in 2014, Zheng Fang, 20, took 4000 yuan from her family and went to Anhui alone "There was a strong will to survive." < br / > the diagnosis results of the Affiliated Hospital of Institute of Neurology, Anhui University of traditional Chinese medicine are: 1 Wilson type III; 2 Cirrhosis; 3 Megaspleen; 4 Chronic cholecystitis < br / > the latter three were complications caused by hepatolentiosis At that time, doctors suggested that spleen removal should be carried out and the first visit must be accompanied by family members So my mother went to Anhui, but she didn't agree with the suggestion of spleen removal On the one hand, she felt that the price of the operation could not be borne On the other hand, in her opinion, the risk of spleen removal was too high < br / > this is Zheng Fang's first time in Anhui Province She has lived in the hospital for 12 days, spent more than 10000 yuan, and left without completing the systematic treatment The discharge summary read: "the patient's hand shaking and clumsy movements have not improved significantly compared with that at the time of admission, and the final 24-hour treatment of Urone is 2119.74 μ g / 24h, with high copper discharge." The discharge standard recommended by the hospital is lower than 480 μ g / 24h < br / > △ in 2014, Zheng Fang first received the diagnosis of disease Note: Zheng Fang said that the age in the diagnosis of disease was wrong, which should be 20 years old at that time Respondents provide pictures < br / > Zheng Fang was not reconciled Two years later, in October 2016, Zheng Fang came to Hefei again with more than 40000 yuan of crowdfunding, and completed "splenectomy + pericardial devascularization" < br / > at the beginning of 2017, one month after the operation, Zheng Fang came to Anhui again for the diagnosis and treatment of postoperative copper The total cost before and after the treatment was more than 50000 yuan < br / > in 2019, Zheng Fang spent another month in the hospital for copper drainage treatment When she left, she prepared a year's copper drainage medicine, which cost 32000 yuan Because Zheng Fang's family applied for the minimum living insurance qualification, the reimbursement rate was relatively high, and the reimbursement amount was about 22000 yuan That is to say, Zheng Fang spent more than 10000 yuan at her own expense "There are still differences in the annual reimbursement rate, which is not very stable When I was hospitalized for the first time, I didn't report any money, because the medical insurance department thought that I was not going to a public hospital." < br / > in addition to the copper discharging medicine, she also needs to take the medicine of brain protection, liver protection, calcium supplement, zinc supplement and Gandou tablet, which are all long-term taken by the patients with Gandou According to Zheng Fang's calculation, during the non hospitalization period, the daily drug cost is about 80 yuan < br / > by this year, Zheng Fang's condition has been controlled stably Although head shaking and hand shaking are still unavoidable, they will not affect daily life What prompted her to go to Anhui again was a 29-year-old friend who died of liver cancer on May 17, a friend she met while working for the hepatitis community mutual benefit organization Zheng Fang regrets the uncertainty of life, decides to have a good systematic treatment, and is also ready for the future marriage and childbirth, "take advantage of the youth, adjust your physical condition as soon as possible." < br / > the production of specific drugs < br / > like Zheng Fang, there are about 2000 hepatolentipathy patients who come to Anhui from all over the country every year Most of them come for "copper drainage water" (i.e sodium Dimercaptopropanesulfonate injection) and specific therapy < br / > sodium Dimercaptopropanesulfonate injection is an old drug, which was not initially used for hepatolentiosis It was listed in the Soviet Union in the 1950s and can be used for the treatment of mercury and other metal poisoning In many primary school texts for sixty-one class brothers, the drug dimercaptopropanol delivered for detoxification has similar functions to sodium Dimercaptopropanesulfonate, but the latter has less side effects and better detoxification effect < br / > in the 1980s, doctors in the former Soviet Union found that sodium Dimercaptopropanesulfonate could be used for the treatment of Wilson's disease, while Chinese doctor Yang Renmin and others also found out and put forward a set of clinical therapy < br / > this is Zheng Fang's fifth visit to Anhui Unlike before, she found that the hospital began to limit the dosage of sodium Dimercaptopropanesulfonate injection < br / > Chen Bing, founder of the copper doll rare disease care center (hepatobean Association), discovered the drug shortage earlier < br / > in March this year, a patient in Chongqing complained in the patient group that the price of copper drainage water had risen again The price of the previous one was 27.9 yuan, which rose to 49.5 yuan last year This time, the price rose to 58 yuan again, and the packaging chart of the drug was also included Chen Bing sees that the manufacturer of the product is not Shanghai Hefeng pharmaceutical, which he was familiar with before, but a pharmaceutical factory called Shanghai Xudong Haipu < br / > thinking of the history of penicillamine's production suspension in 2017, Chen Bing immediately became alert He doubted that Shanghai Hefeng pharmaceutical would be shut down < br / > after a series of inquiry and verification, he learned that Hefeng had indeed stopped production Anhui doctors also confirmed this Hefeng's products were cut off and replaced with Xudong Haipu's products < br / > the explanation for the production suspension of the pharmaceutical factory is that the upstream API manufacturer is moving and there is no API available for production < br / > according to the official website of the State Drug Administration, there are four manufacturers related to sodium Dimercaptopropanesulfonate, among which Shanghai Wanxiang pharmaceutical is the only API manufacturer < br / > △ screenshot of the website of the food and Drug Administration < br / > at 8:00, a responsible person surnamed Xu said that the factory was indeed moving As of June 8, the shortage of sodium DIMERCAPTOPROPANE sulfonate in the market had been noticed, and the production of sodium DIMERCAPTOPROPANE sulfonate was put at a high priority level However, due to the particularity of the pharmaceutical industry, the relocation and resumption of production of pharmaceutical plants are more complex than other industries "At present, sodium Dimercaptopropanesulfonate is already in production, but the drugs including the production environment and production still need to pass the compliance review of the pharmaceutical regulatory department, and they can not be directly supplied to downstream manufacturers after being produced." As for when the supply could be restored, she did not give a specific time plan < br / > at present, there are not many patients visiting the hospital What Chen Bing worries about is what to do next summer vacation? Hepatolentiosis is often found in young people Most of the students choose to come to the hospital during the summer vacation If the production can not be resumed, then the clinical medication may be cut off < br / > the shutdown is not an incident, and the lack of production power in pharmaceutical plants < br / > the shutdown is not an incident < br / > the penicillamine mentioned earlier was discontinued in 2017 Chen Bing recalled that at that time