Newsweek丨Waiting for January 1, is the hope of rare patients still "rare"?
Bai Yansong: Last Saturday and Sunday, the "2021 China Rare Disease Conference" was held in Beijing.
In addition to government officials, doctors, experts and scholars, this national academic conference also attracted the attention of many families of patients with rare diseases.
They hope to obtain information about new technologies and new drugs, especially in terms of drug prices, whether there are any further policy signals.
For a long time, rare diseases have been priced at hundreds of thousands of injections due to the small number of patients and the high cost of drug development. If you want to achieve good results, you have to inject several injections a year.
Few families can bear the burden of millions of dollars, and many stories have come to the most heartbreaking end in torture and tears.
The good news is that starting from January 1 next year, another 7 rare disease drugs will be included in the medical insurance list, and the price reduction will be almost 0.05% off.
New Year's Day is just a week away. How about these patients who are waiting for medication?
Will their medicine be available in time?
In the future, what efforts are needed to build a more mature rare disease policy system?
Beijing evening peak emergency relay, emergency transfer of children with rare diseases
Two ambulances have been waiting for a long time on platform 12 of Beijing West Railway Station at 5pm on Wednesday.
On the upcoming G80 high-speed train, there is a patient with a rare disease who is only 7 months old.
His name is Liu Jingyi. Because of spinal muscular atrophy, he has been using ventilators and other equipment to maintain his life.
The child’s father, Liu Kuichen: Maybe the high-speed rail is relatively unreliable, and there have been two heart rates reaching 180 and 190.
I keep sweating on the top of my head, and I may have heart failure at any time.
Jing Yi's trip was because his parents wanted to transfer him from Changsha to the Beijing Children's Research Institute to seek a chance for treatment.
Although there is a doctor accompanying him, Jing Yi is in critical condition. Safety can only be guaranteed if he is sent to the hospital as soon as possible.
It was the evening rush hour in Beijing, and the Children's Research Institute was located in the most congested east.
Under the escort of the traffic police and the active avoidance of social vehicles, a "passage of life" was opened.
The ambulance that picked up Xiao Jingyi from Beijing West Railway Station went unimpeded all the way.
In only 16 minutes, the ambulance arrived at the Children's Research Institute.
In the past, it took nearly an hour to block the road.
In September this year, Xiao Jingyi's condition deteriorated and she was transferred to the ICU of many children's hospitals in Hunan.
Due to the epidemic, he was only 4 months old and could not see his parents. He was accompanied by white walls, various pipes inserted into the body, and the dripping sound of the monitor every day.
Liu Kuichen, the father of the child: I suck sputum, so many times a day.
From the inside of the mouth, or from the inside of the nose, if you pass it, you may reach this position, almost to the chest.
It's hard for a normal person to be like this. What's more, for such a small baby, when I see him in pain, his eyes will only shed tears, there is no sound or power, so he doesn't even cry.
Jing Yi is the second child in the family and has a brother who is two years older.
Before he fell ill, he liked to laugh very much, his eyes were big, and he was often praised for being beautiful.
The child’s father Liu Kuichen: At that time, the hand could only be lifted a little bit like this, and the sole of the foot could only be stretched like this. It could not be moved in translation, nor could it be lifted up. At that time, we thought, why is Jing Yi so lazy, He doesn't like to move.
On the morning of September 16th, the child suddenly turned pale, then turned his eyes up, and then his lips became blue and purple. In fact, at that time, his swallowing function was deteriorating, and there was phlegm in his throat that could not be swallowed, causing suffocation. shock.
Liu Kuichen learned later that his son had a rare disease with an incidence of about one in ten thousand. This is a genetic disease. It will make the child’s muscles lose a little bit of strength, and eventually they will not have the strength to breathe, and suffocate. And die.
In addition, children with the onset of disease younger than 6 months are the most dangerous, with an average of less than 2 years of age.
There are about 30,000 patients with this disease in my country. At present, there are two treatment drugs in China, one is oral medicine, the price is about 68,000, and the other is injection that was reduced from 550,000 to 33,000 through medical insurance negotiations at the beginning of the month.
The drug needs to be injected for life, with six injections in the first year and three injections per year starting from the following year.
Yu Hao, the attending physician of the Rare Disease Diagnosis and Treatment Center of the Second Hospital of Zhejiang University: This medicine promotes the increase of gene expression and improves the disease.
If the drug is stopped, the protein expression will slowly slow down again, and it may return to its original state.
Both Jing Yi's parents were born in 1995, just 27 years old.
The mother takes care of the child at home and has no income.
His father is a cook, and his monthly salary is 6,000 yuan.
Although in recent years, pharmaceutical companies have promoted "charity donation of medicines", the first dose buys one to get three, and then buys one to get two. They have also raised some donations online, but after calculating 1.1 million for a year, they still can't afford it.
The child’s father, Liu Kuichen: We can’t solve the first shot, not to mention the second shot. If Jing Yi lived in the ICU for more than three months, it would cost him about 300,000 to keep him alive.
Cao Ling, director of the Department of Respiratory Medicine, Capital Institute of Pediatrics: At present, Xiao Jingyi's main danger is still breathing problems.
More chronic pneumonia takes a long time.
He was infected with a lot of drug-resistant bacteria. Once the sputum is blocked, his life may be in danger at any time.
It is understood that in the future, the drug will be reimbursed according to the type of medical insurance on the basis of 33,000.
Currently, Jing Yi's mother is accompanying him in the hospital, while his father plans to work in Beijing.
They are all looking forward to Jing Yi to last until January 1, when the price-reduced special medicine will take effect on him, and then take off the ventilator a little bit.
The child’s father, Liu Kuichen: Liu Jingyi is my name. At that time, I thought I hoped that he would spend his life more comfortably and happily.
In fact, I also especially hope that I can take my children around like other parents. I believe there will be such a day.
Bai Yansong: Rare disease treatment is actually similar to the current fight against the new crown epidemic, that is, early diagnosis and treatment, and early prevention is better. However, many rare disease patients have experienced varying degrees of difficulty in diagnosis.
According to statistics, the average diagnosis time for rare disease patients in my country is 1-3 years. A retrospective study of a type of rare disease found that one patient had been misdiagnosed for 33 years. During this period, the patient repeatedly went to The hospital used a lot of medicines that were not suitable for me and missed the precious treatment time.
How did this happen?
Is there a solution?
How to solve the difficult diagnosis of rare diseases?
Cui Liying's research has gradually frozen people for many years.
In her opinion, the young man in front of him has only half a year of disease, and the diagnosis speed is fast, and 90% of people with gradual freezing will die within five years of onset. Only the first diagnosis and medication can effectively extend the survival time.
However, the early diagnosis of people who are gradually freezing is very difficult.
Cui Liying, director of the Department of Neurology, Peking Union Medical College Hospital: For example, some of our patients accidentally discovered that the muscles of my hand were atrophy, and he would go to the hospital to see a doctor.
If we don't have much experience, or from the perspective of screening, there are many reasons for this muscle atrophy.
For example, the disease of the ulnar nerve, the disease of the cervical spine and so on.
This muscle atrophy can occur.
In the early three months, when the patient feels that he has symptoms, we will give him an electromyogram in the early stage. The electromyogram has very extensive neurological damage, and we must suspect that it is the early stage of gradual freezing and give it to him. Medicine treatment.
This EMG examination is very important, it is a high-tech examination.
Rare disease experts gather in cities with a high concentration of national teaching hospitals, and not every hospital can do high-standard EMG.
Cui Liying leads the team to establish diagnostic criteria for gradual freezing, and holds electromyography classes every year. In developed countries, this is a compulsory and capable project for every neurologist.
Cui Liying, director of the Department of Neurology, Peking Union Medical College Hospital: There is a saying that there are fewer doctors who see rare diseases than rare diseases. In fact, the misdiagnosis or missed diagnosis rate of rare diseases is relatively high because they are rare.
So like a primary hospital, he has never seen such a patient.
I saw a man with generalized myasthenia gravis. He started to get tired in his 20s and was diagnosed with neurosis all the time, but he was better after taking a rest.
In fact, the characteristics of myasthenia gravis are also like this. Rest and rest are reduced, and the symptoms are fluctuating. They were diagnosed only in their 50s and were misdiagnosed for 30 years.
The clinical phenotypes of rare diseases and common diseases overlap to a large extent. Patients of a single disease have few resources. They often explain the disease and introduce the medical history to every clinician he meets in multiple departments in the hospital. In the symptomatic treatment of foot pain, patients are often lost in uncertainty for many years. For rare diseases that can be treated with medicine, misdiagnosis and missed diagnosis are extremely harmful.
Cui Liying, director of the Department of Neurology, Peking Union Medical College Hospital: There is also the patient himself.
But the patient still wants to go to other people's homes to see again, Xuanwu watched Xuanwu, Xuanwu watched the Temple of Heaven, and the Temple of Heaven watched the Beijing Third Hospital.
After walking a long circle, I will take a look at Shanghai again, this will also delay the diagnosis.
Cui Liying, director of the Department of Neurology, Peking Union Medical College Hospital: In addition to seeing common diseases, like our neurologist at Union Medical College Hospital, you must have this diagnostic ability for all kinds of rare diseases. Many diseases involve several departments. Everyone’s opinions I’m not together. I don’t know how to deal with very complicated rare diseases. Then I will make an appointment for MDT (Multidisciplinary Consultation) and arrange the relevant departments of various disciplines to discuss together. From the perspective of rare diseases, we have it every Thursday This kind of consultation will decide today whether he should have an operation and what to do next.
In one noon time, the multidisciplinary problem was solved.
Finding the culprit of the disease-causing gene from the human genome of more than 20,000 genes is like Sherlock Holmes's verdict.
In 2019, in order to solve the goals of early detection, early diagnosis, treatment, and management of rare diseases, the National Health Commission decided to establish a national rare disease diagnosis and treatment collaboration network.
As a national-level leading hospital, Peking Union Medical College Hospital recently announced that the network has been established, and its first national rare disease consultation platform established on the basis of MDT, or multidisciplinary consultation, has convened more than 250 experts in more than 20 disciplines. Thousands of patients shortened the diagnosis time to an average of 4 weeks and reduced costs by 90%.
In addition to diagnosis and treatment, the important function of multidisciplinary consultation is teaching, and about 50 hospitals learn online each time.
Cui Liying, director of the Department of Neurology, Peking Union Medical College Hospital: The rare experience of rare diseases and the detection methods are a problem of our medical profession. Whether it is clinical experience or diagnostic technology, training is required.
Because medicine is empirical medicine after all, we have many doctors. When he was studying in Union Hospital, he saw a case. When he went back to see a doctor, for example, he saw a rare disease. He saw how it looked like a rare disease.
Therefore, in basic-level hospitals, they actually need to teach about rare diseases, and they can doubt some rare diseases.
Then they refer them in time. We can't ask all grassroots doctors to diagnose rare diseases, but after the diagnosis is confirmed, they can go back to the local area and they can follow up, prescribe drugs, and take care of them. I think this is very good.
Bai Yansong: Being diagnosed with a rare disease is often a bolt from the blue for the patient and the family behind it. Most of the two questions before them are: Can this disease be cured?
Can we afford it?
In fact, treatment difficulties and high treatment costs are also pain points for most patients with rare diseases.
At present, only about 5% to 10% of known rare diseases in the world are curable, and the "orphan drug" for treating rare diseases is often expensive.
Faced with a rare disease that has been diagnosed with great difficulty, what should we do next?
How to give priority to basic medical insurance for rare patients?
This Friday morning, Director Wu Zhiying of the Second Affiliated Hospital of Zhejiang University School of Medicine opened as usual. She has been dealing with rare diseases for 30 years. Next year, the only rare disease area in the country will be established in the Second Hospital of Zhejiang University. Together with the patients and comrades, we have overcome rare diseases.
Wu Zhiying, director of the rare disease diagnosis and treatment center of the Second Hospital of Zhejiang University: Before rare diseases, because of its extremely low incidence, there were fewer doctors who could diagnose and treat rare diseases.
So you must have this special team of experts to look at these diseases and give patients greater help.
At present, there are about 7,000 kinds of rare diseases that can be diagnosed in the world. Three years ago, when China announced the first batch of rare diseases list, 121 kinds were involved, which was only the tip of the iceberg among the more than 7,000 kinds. Behind such data , Reflecting the practical problem of difficult treatment of rare diseases.
Wu Zhiying, Director of the Rare Disease Diagnosis and Treatment Center of the Second Hospital of Zhejiang University: There are 7,000 to 8,000 species in the world. This is the data that everyone recognizes. We also have so many diseases in China. It is not that China has only 121 diseases. No, China also has the same. Sickly.
These 121 types were listed after discussion by experts at that time. They were aimed at some. One is diagnosable and treatable, and the other is relatively common, which is the rare disease that we can solve as quickly as possible.
Faced with patients with rare diseases who have been diagnosed and have passed the "diagnostic barrier", clinicians do not want them to be turned away, but "difficulty in treatment" is always a practical obstacle in front of medicine.
Among the 121 diseases listed in China's rare diseases list, 47 have no therapeutic drugs in the world; 16 have medicines abroad but no medicines in China; finally, only 36 kinds of domestic drugs have clear treatments.
Patients with rare diseases: This is called peroneal muscular atrophy. I have just given the medicine and should start taking it today. I think this is a long-term battle and should be taken all the time, but there is no specific medicine for this disease.
Families of patients with rare diseases: multiple systems are atrophy, and there is no particularly good plan for rare diseases. At present, it is mainly to improve symptoms, and there is no specific medicine.
Wu Zhiying, Director of the Rare Disease Diagnosis and Treatment Center of the Second Hospital of Zhejiang University: It is very difficult to develop a new drug. You are really like those large foreign drug companies. You develop a new drug with billions or even tens of billions of dollars. You have to invest such funds. , You may develop a new drug.
And you have invested so much money in it, and the drug developed in the end failed.
The development of new drugs for specific diseases of rare diseases is a high-investment process for pharmaceutical companies.
Even if the technical difficulties are overcome and the small group of rare diseases "can be cured", the next step is to recover the R&D costs from the rare disease group with a small base number, and it has to face the dilemma of "expensive medication".
Wu Zhiying, director of the rare disease diagnosis and treatment center of the Second Hospital of Zhejiang University: Why are drugs for rare diseases expensive? If you average them, your denominator is very small.
One is the reason for the high price, and the other is the reason why there is less research and development. Generally speaking, it is that the price/performance ratio is not high enough.
But for me as a doctor, we don't care about these things.
What we can manage, we hope that you will have the medicine out as soon as possible, and we hope that the medicine will come down, and we have to do all kinds of ways.
Whether you enter medical insurance or donate from society.
At present, more than 40 kinds of rare disease treatment drugs in China are included in the list of medical insurance drugs, of which 7 are included through negotiations this year.
In the field of basic medical insurance, the "soul bargaining" of medical insurance last month gave many rare disease groups hope.
Zhang Xifan, Director of the Catalogue Department of the Medical Service Management Department of the National Medical Insurance Administration: From the perspective of improving the level of protection, we hope that more rare disease treatment drugs will be included in the catalog to better meet the basic drug needs of patients. But in fact, everyone knows that we The basic medical insurance system is positioned to protect the basics, so we must persist in doing our best and doing our best.
In the case of limited basic medical insurance protection capabilities, in order to maintain the safety of the medical insurance fund, "basic protection" can only be set as a priority. However, in the face of every small group of rare diseases that should not be abandoned, society should explore and build A more diverse security system.
Zhang Xifan, Director of the Catalogue Department of the Medical Service Management Department of the National Medical Insurance Administration: At the same time, we have also supported some places in recent years to relieve the burden of this rare disease patient through commercial health insurance and charity assistance. This is also the use of social forces. An exploration in the field of medical security.
Bai Yansong: When it comes to rare diseases, when everyone sees the word “rare”, they think that the number of people is very small. In fact, this rare disease only refers to the small proportion of the disease in the entire population, but if you add up all the patients with rare diseases, , 20 million nationwide, do you mean small?
Moreover, the number of rare disease patients in China is increasing by 200,000 each year. This is also not small, not to mention that a person’s life is also life, and we should also put people first. This needs to include drug research and development, changes in concepts, the level of diagnosis, etc. Add up the progress of the whole society.
Next Saturday, January 1, the latest version of the National Medical Insurance Drug List will be implemented. For many patients with rare diseases, this is light. I hope that the light will be bigger and brighter in 2022 and 2023.