Elephant News reporters: Han Jingwen, Zhang Chongyao, Liu Yixin, Wang Ruilin.
Xi Xi, 7 years old, was diagnosed with mucopolysaccharidosis type A at Shanghai Xinhua Hospital in August 2019 and has been off the drug for 231 days as of press time.
Duan Duan, 5 years old, was diagnosed with mucopolysaccharidosis type A at Zhejiang University Children's Hospital on December 27, 2021, and has been off medication for 184 days as of press time.
Peng Peng, 10 years old, was diagnosed with mucopolysaccharidosis type A at the University of Hong Kong-Shenzhen Hospital in November 2023 and will also stop taking the last batch of drugs in stock.
Mucopolysaccharidosis type A is a genetic rare disease diagnosed by only more than 100 people out of a population of 1.4 billion in China. Of the more than 100 people, only a dozen have received drugs**.
Mucopolysaccharidosis type A is not possible, and the world's only ** drug "Weimingzan" was approved by the National Medical Products Administration in 2019 for patients with mucopolysaccharidosis. However, the annual cost of millions of yuan is beyond the reach of most sick families.
To the surprise of the sick family, "Wei Mingzan" will withdraw from the Chinese market in May 2024 due to the expiration of its license. At that time, all mucopolysaccharidosis type IVA patients in the country will face a desperate situation where there is no drug available.
I wanted to save my child, but I had no way out. ”
The first major mountain: confirmed
Do you want to be a doctor when you grow up? ”
Don't want to. "Why? ”
I want to be a scientist and figure out things that people don't know about now. ”
In January 2024, in Hangzhou, when the Elephant News reporter met Xixi, the first person in the country to take public medication for mucopolysaccharidosis type IVA, the whole family was busy preparing for her final exam that day. Due to the illness, 7-year-old Xixi has weak bones all over her body, and she needs to be picked up by her parents to and from school, "She was very tall when she was born, white and tender, but she slowly felt some differences, such as often bending when sitting, and then walking in the back with her left foot dangling in a circle, which is not normal." Until now, I can't carry my schoolbag, so I sit down with a bang on my back. ”
In the Spring Festival of 2019, Xixi had the symptoms of "chicken breast", the sternum protruded forward and was often accompanied by shortness of breath and fatigue. What she didn't expect was that the doctor actually prescribed them an unexpected test sheet, "It is recommended to do a genetic test, and it is suspected that it is a genetic disease." ”
After the test results came out, the doctor clearly told Liu Honghua that it was mucopolysaccharidosis type IVA at first glance, and the symptoms were typical, and told her, "You don't have to make a lot of efforts, just let the child eat well, play well, and sleep well in the future." ”
The doctor's words were like a thunderbolt from the sky, Liu Honghua, who was in his 40s, sat at the door of the hospital and cried loudly, "The doctor told me that if our child didn't have any **, she should be completely paralyzed at the age of 10, and she would be gone at the age of 30. ”
Liu Honghua's only reaction with a blank brain was: Save her!After returning home, Liu Honghua closed herself in her room, checking Chinese and English documents tirelessly, and did not give up every way that could save her daughter's life.
Through repeated verification, two days later, Liu Honghua also had a clearer understanding of mucopolysaccharidosis type IVA, "At present, only more than 100 people in the country have been diagnosed with 1.4 billion people, and their intellectual development is basically normal, but the skeletal development disorder is obvious, and the life expectancy is generally twenty or thirty years old, which also includes many patients who are unable to walk in the late stage of the disease and need to be paralyzed in bed." ”
Inability to ** "paralyzed in bed" "limited life"...One word after another stimulated Liu Honghua, who had entered middle age, considering that she had a child at an older age, Liu Honghua fell into collapse again, "My own health is not very good, she is almost 40 years old, I am afraid that if I am not there one day, then she may be alive." If that day really comes, I still hope that she can live with quality. ”
As it stands, I don't blink a blind eye. ”
The second most important mountain: sky-high prices
"Wei Mingzan" is currently the world's only ** mucopolysaccharidosis IVA drug, although it can't, but it can delay the symptoms to a certain extent. In 2018, "Weimingzan" applied for marketing in Chinese mainland, and in May 2019, it was approved by the National Medical Products Administration for the use of ** mucopolysaccharidosis type IVA patients through the green channel opened by the country for rare disease drugs. In a desperate situation, "Wei Mingzan" has become a "life-saving straw" shining in the eyes of the families of mucopolysaccharide patients.
But the price of this "life-saving straw" has discouraged many families. Liu Honghua calculated an account to reporters, "'Wei Mingzan' should be used according to weight, one for every 5 catties, 7,500 yuan for each medicine, and once a week." If you are 40 pounds, the monthly drug cost is 240,000 yuan, and it will cost about 3 million yuan a year, and with the increase of weight in the future, the cost will continue to accumulate. ”
Faced with the high cost of medicine, the working-class Liu Honghua and his wife emptied their savings, but they were still a drop in the bucket. With the last hope, she decided to communicate with the pharmaceutical company, hoping that the pharmaceutical company could reduce the price. "In May 2020, I talked to the pharmaceutical company for the first time, and I told all the reasons I could think of for several hours, and I kept talking about it and didn't give up. ”
In the end, the pharmaceutical company decided to give discounts in the form of giving away some drugs, and Xixi's annual cost was reduced from 3 million to about 500,000, and on August 12, 2020, the first injection of "Wei Mingzan" was successfully injected, becoming the first person in China to publicly use drugs.
After Xixi successfully used the medicine, Liu Honghua also became the backbone of the family group of local mucopolysaccharide patients, "The family members have poor information, and they feel that they can't afford to use the medicine, but the actual situation is that some families can still afford it after I told them this, and more than a dozen children have followed Xixi to use the medicine." ”
After the official start of the **, Heexi needs to go to the hospital once a week to receive injections at regular intervals. However, due to the frequency of ** too often, the 7-year-old Xixi's hands were full of dense scars, "At the beginning, the injection was like killing a pig, and she had to be pressed by several people, and when she pricked the needle on the scar, she only said that it hurt as if she was resigned to her fate, and then later, when the scar on the scar was pierced again, she had a psychological shadow, and on the way to the hospital, she began to say, Mom, I hurt." ”
The medication day, which frightened Xixi, did not last long. After the 131st time**, the pharmaceutical company suddenly announced that it would cancel the originally negotiated free drug**, and the drug must be purchased at the original price again. Faced with the unaffordable price of medicine, Liu Honghua had no choice but to cut off Xixi's medicine.
Today, Liu Honghua still properly preserves hundreds of empty medicine bottles and drug instructions that Xixi has used, "We are the first to use drugs publicly, a total of 881 bottles of medicine have been used, many parents are envious, and they also want to know what this medicine looks like, so I saved these empty medicine bottles, and gave them to whoever they wanted, so that everyone could at least see the real thing." ”
A little thought, maybe a little hope. ”
The third major mountain: no medicine
Compared with Liu Honghua's negotiation with pharmaceutical companies, Pengpeng's family in Changzhou, Jiangsu Province is a little lucky.
During the centralized negotiation of national medical insurance in 2021, "Wei Mingzan" failed to enter the medical insurance because it was expensive. In order to solve the dilemma of patients' difficulty in taking drugs, the medical insurance bureaus of some provinces and cities have taken the lead in exploring and trying to ensure the diagnosis and treatment of rare diseases. Among them, in 2021, Jiangsu Province will include mucopolysaccharidosis type IVA in the scope of the first batch of rare disease drug protection objects in the province, with a payment ratio of 80% for 300,000 yuan and below; 30-700,000 yuan (including 700,000 yuan), the payment ratio is 85%; For expenses above 700,000 yuan, the payment ratio is 90%.
Thanks to this, Peng Peng has become one of the very few patients in the country who can still use medicine and have medical insurance. Peng Peng's mother, Sun Jiajia, said, "Without Jiangsu Provincial Medical Insurance, we will spend about 4 million a year, and we really can't afford this drug, but after the policy, the part we pay can also be reimbursed through Medical Huibao and Changzhou Huimin Insurance." ”
Under the multiple guarantees of Jiangsu provincial medical security, urban commercial insurance and local medical subsidies, Pengpeng's ** cost has been sharply reduced from 4 million yuan per year to about 50,000 yuan. It is worth being pleasantly surprised that Peng Peng's changes are very obvious, "After taking the medicine, I found that he walked faster, and he grew 7 centimeters in a year, and at that time I wanted to say, well, this medicine is useful, and I must continue to use it." ”
However, the news that "Wei Mingzan" will be delisted in May this year made Sun Jiajia fall into anxiety again. This also means that once delisted, Peng Peng may face a situation where there is no medicine available after using up the last batch of drugs this year.
Now Jiangsu's policy is still there, but the medicine is gone. ”
After the withdrawal of "sky-high drugs": stagnation
With the cessation of preferential policies of pharmaceutical companies, most mucopolysaccharidosis IVA patients in the country have no choice but to stop taking drugs in the face of millions of drug costs every year. As of February 2024, Hangzhou's 4-year-old Duan Duan has been off medication for nearly a year, and his health is deteriorating. "The wrist bones are loose and there is no strength, and now it is difficult to eat with a spoon. In kindergarten, I could only read books and do puzzles indoors, and my development was stagnant again. ”
Now the shoes worn on the feet of Duanduan are still two and a half years old when the whole family ran to the Hangzhou Building that they had never visited before, "Duanduan from the newborn to about two and a half years old, has not changed his shoes, but after three weeks of medication, we suddenly found that his original shoes could not be worn, we were both happy and sad, the whole family dressed neatly together and went to Hangzhou Mansion to buy him two pairs of shoes, happy that we feel that this is a very meaningful thing, sad is to feel such a small change, It's not easy for us. ”
In December 2023, he received an email from the U.S. headquarters of the pharmaceutical company Baiao Wanli Pharmaceutical, which clearly replied that it had been decided not to re-register the import drug license of "Weimingzan" in China. We apologize for the inconvenience.
In January 2024, the Elephant News reporter sent an email to the U.S. headquarters of Baiao Wanli Pharmaceutical again, asking about the reason for the delisting of "Weimingzan", and received a reply: Although we have made efforts in the past few years, we deeply feel that there are limited practical opportunities in the discussion of the payment method of "Weimingzan" drug**, so we have decided not to re-register the marketing authorization (i.e., import drug registration certificate) of the product. Our current marketing authorization expires in May 2024, and we are committed to supporting patient access to our medicines and exploring options to achieve continued access to our medicines** for patients currently undergoing Vimezan**.
Hope came and went, and in the face of his son's stagnation after completely stopping the drug, Wang Qijun was like a fish in his throat. In his view, Baiao Wanli Pharmaceutical chose to withdraw from China, profit is the biggest reason, "the number of patients is small, the disease is serious, and the cost of drug production is also high, pharmaceutical companies are unwilling to reduce prices, but if they do not reduce prices, they will not be able to enter the medical insurance, and the patient population who cannot enter the medical insurance radiation will be less, and the profits will be less." ”
What about those of us who are on medication? ”
Watch and call: Every small group should not be abandoned
The clear answers in a number of emails have confirmed the news that "Wei Mingzan" will be officially delisted in May this year. After the drug is stopped, how to solve the treatment problem of mucopolysaccharidosis IVA patients in China? What is the key to breaking the game of high-value rare diseases? In this regard, the reporter contacted Jin Chunlin, director of the Shanghai Health and Health Development Research Center.
*At the level, when the patent protection period of 'Weimingzan' is reached, there may be generic drugs on the market, but the investment of pharmaceutical companies is relatively large, so the price of drugs may be very high. However, the situation has also undergone some changes recently, the current drug regulatory system approval is relatively relaxed, R & D costs and market speed have also improved, in this context, manufacturers have rebounded in the enthusiasm of rare disease investment, and now some pharmaceutical companies have opened up new ideas, such as drugs are listed in the name of rare diseases first, and after the first is effective, they will apply for the expansion of the same indications as rare diseases, so that they can share the cost and reduce pricing through other patients. Jin Chunlin said.
In terms of rare disease protection, Jin Chunlin believes, "If there is one rare disease in 10,000 people, does it mean that 9,999 people will not get sick?" At this time, is it that 9999 people are obliged to pay for one person? In this way, the key to breaking the situation is to break the situation by medical insurance rushing to the front and other protection mechanisms at the same time, and everyone's empathy for patients with rare diseases is very important. Secondly, Zhejiang and Jiangsu provinces have carried out a pilot, that is, 2 yuan per person to establish a guarantee for rare diseases, which can solve the problem of 5 high-value rare diseases that are currently treatable by drugs, and these practices have also proved that the use of drugs for rare diseases is not a completely bottomless pit. ”
So it's really important to stay alive and persevere. ”
From the diagnosis to the first time, from not being able to buy medicine to not being able to buy medicine, more than ten families such as Xixi, Duanduan, and Pengpeng have never given up lightly. In a desperate situation, their voices are too small in a crowd of 1.4 billion. Behind the watch and call is the selfless love for children, the confidence in medicine, the enterprise, and the society, and the love and hope that give these families the courage to fight the disease to the end.
It may be that the mother is just right, so a heart-warming angel has come to you, if you don't work hard as a mother, you're sorry for this fate. ”
The child is a gift from God, I can't give him a healthy body, it's already a lifetime debt. All the efforts now are to buy some more time for the child before he has better means in the future. ”
Maybe one day there will be a big breakthrough in genes, and it will be possible for him to live like a normal person. ”
For the sake of our children, we are not willing to give up, as long as there is a glimmer of hope. ”
In order to protect the privacy of the interviewees, the names of the patients and their families have been changed).