In October 2018, in a night rain in Jinan, the world of adult Ma Hengxiang collapsed.
He is a novice father, his son Xiaoshi from the croaking to the ground, to turn over, look up, sit, all the way to grow up healthily, grow to 8 months old, Xiaoshi's legs began to move abnormally, and soon developed to sit difficult. After running all over Jinan Hospital, the child's genetic testing confirmed:
In this disease, the children's muscle nerves gradually regressed, and finally most of them died before the age of two, wheezing hard and dying of respiratory failure.
Ma Hengxiang noted that in May of the year the child was diagnosed, the National Health Commission, the Ministry of Science and Technology and other five departments jointly released the "First Rare Disease Catalog" that included 121 diseases, and Xiaoshi's disease ranked No. 110. At that time, in despair, he did not expect anything at all: what this serial number meant.
It was a ray of sunlight in the night, shining into the fate of the little stone.
The heaviness and magic of a 110 serial number
"Is this the final offer you confirmed?" Please confirm. ”
"Yes."
"Okay, deal."
On the morning of December 3, 2021, the news came that a special group of patients boiled over. Ma Hengxiang, the father of the child with spinal muscular atrophy (SMA for short), sat at his workstation, looking at his mobile phone, and the tears could not stop flowing: "Because in the unit, you can't cry." After calming down, I felt relaxed. ”
Time needs to be brewed, and after a long time, everyone really understands the meaning of a serial number.
As early as 2016, children with SMA already had a life-saving drug, noxinassine sodium, and have not been able to enter China. Under normal circumstances, the time for China to approve a new drug is 130 working days.
In 2018, after the release of the First Catalogue of Rare Diseases, the Food and Drug Administration compressed the approval time for drugs for rare diseases to less than 70 working days.
Fortunately, disease No. 110 in the catalogue is one of the few drugs available in the entire catalogue: in February 2019, Nocinasin sodium injection was approved by the State Drug Administration, becoming the first drug in China to treat SMA.
Coincidentally, the drug for this disease No. 110 costs as much as 700,000 yuan per injection, and even if the subsidy is included, the annual cost is just 1.1 million yuan, and the drug is used for life.
This is something that the vast majority of ordinary Chinese families cannot afford.
Strong little baby,
My robot baby is subjected to 8,000 beats every day, and someone sees the late SMA and just crosses it out and can't give us a cheering word? #Positive Energy#Come on Mom
At the beginning of 2021, Nocina sodium took the initiative to reduce the price, and the annual cost dropped from 1.1 million to 550,000. Ma Hengxiang's family cobbled together, relying on rehabilitation training to survive until the age of 3, Xiao Shi finally hit the first special medicine in his life.
Good news followed. At the end of the year when Xiaoshi used the drug, Nocinasin sodium was included in the national medical insurance directory at a price of about 30,000 a needle, and was listed as a class B drug for medical insurance, superimposed on the policy of benefiting the people in various places, and most patients could get treatment as long as they paid tens of thousands of yuan per year.
This is probably the best news since the release of the First Rare Diseases Catalogue. The sequence number 110 in the table of contents, and all the miracles that have happened since then, speaks of the same theme:
rebirth.
This statement is no exaggeration for a child like Xiao Shi who is not familiar with the world.
However, the First Catalogue of Rare Diseases has only 121 diseases, and the diseases that are assigned a serial number are not all as lucky as 110. There are about 7,000 rare diseases in human beings, and more people in and outside the catalog need to be reborn.
Less than half a year, 1.7 million
When Kirito was just a full moon, his young parents bumped into the "darkest hour": the child suddenly had white thrush in his mouth, followed by a high fever. I have run to the hospital countless times, but the condition has become more and more serious, lung infection, blood in the stool, hepatosplenomegaly, multi-organ failure, shock, critical illness...
After 3 months, Tong Tong was finally diagnosed in Beijing: severe combined immunodeficiency.
This is a subtype of primary immunodeficiency disease in the First Rare Disease Catalog, and the cellular immune function of children is almost completely missing, and only 1 in about 100,000 newborns is sick, and the mortality rate is extremely high.
Unlike Xiao Shi, There is no medicine for Tong Tong's disease, and can only rely on conventional treatment to survive.
However, this is also one of the few rare diseases that can be cured, and the main treatment method is hematopoietic stem cell transplantation.
A child's illness can be cured, but there is not enough money to save the child's life, which is the nightmare of parenthood in the world.
On September 27, 2021, the four-month-old TongTong entered the transplant warehouse and experienced transplantation, infection, complications, warehouse exit, secondary entry...
In less than half a year, Tongtong's treatment cost more than 1.7 million yuan, of which more than 200,000 yuan was reimbursed by medical insurance. If the child gets better all the way, the family can still struggle between despair and hope, but Tong Tong has been in a critical state. The hospital told the couple that the child may need to start a second transplant, and the follow-up will be at least 500,000 yuan.
The young parents did not have time to think too much, and sent the heart and liver baby into the life-saving transplant warehouse, and it was difficult to follow.
Without this bad luck, they would be an ordinary, decent pair of young people like many young people in China, and now they, like the vast majority of families with rare diseases, have hollowed out their family wallets:
The savings were spent, the photography studio operated by the couple was transferred, the marriage house in the county town was sold, the wedding car just bought was sold at a low price, the parents' pension money, the down payment of the brothers and sisters were all taken out...
The young Tongtong father bid farewell to the profession of photographer and became a delivery man in the vast capital city, working 15 hours a day and earning 200 yuan.
Tongtong mother of the same age accompanies the transplant warehouse to care for babies who must survive in a sterile environment, and the sterilization of bottles alone is stricter than that of ordinary children, and more than 20 bottles are needed a day. After putting Tongtong to sleep, my mother would use her mobile phone to sell goods live and earn some change.
Because there is no money, Tong Tong briefly out of the warehouse for a period of time, before the second time into the warehouse, Tong Tong's mother went to the street to beg, the couple asked for help everywhere on the Internet, occasionally received donations, and finally raised more than 200,000 yuan, finally bringing a glimmer of hope.
In January 2022, the hospital gave Tong Tong's father a bone marrow puncture, and the matching was successful. Although the doctor instructed him not to move vigorously after the puncture, thinking that the daily medical expenses of more than 10,000 yuan had not yet been settled, he rode out of the battery car again.
Tongtong's father said: "The child's treatment process is a rebirth, but also the rebirth of our family. When he said this, his hair was half white, and he looked like he was 70 years old.
The Health Bureau asked him, when did your hair start to turn white? He thought blankly and replied: I don't know. At the beginning, he accompanied the children in the transplant warehouse, there was no mirror in the warehouse, and when he came out of the warehouse and began to run takeaways, he accidentally saw himself in the mirror, which was already white at that time.
When it was white, the 22-year-old and his 22-year-old wife could not tell.
Live with rare diseases
Unlike Tongtong and Xiaoshi, most rare diseases are still incurable and incurable, and patients must live with the disease.
When Li Xin was 9 years old, his body began to be abnormal, with high and low shoulders, and his shoulder blades were abnormally prominent, and he came to the hospital in urumqi, his hometown, and was diagnosed with Du's muscular dystrophy. This is a serious primary skeletal muscle disorder, and most patients die of muscle weakness and respiratory failure around the age of 20.
"This child may not live to adolescence, and you must be mentally prepared." The doctor told Li Xin's family that the disease could only wait for death.
Young Li Xin secretly went online, and the online statements were the same as those of doctors. He thought desperately, "If you're going to die anyway, then you can build it." ”
After that, Li Xin broke away from the life track of ordinary children and began to make "fox friends and dog friends", borrowing wine to dispel his sorrows, staying up late to jump around, riding a horse and racing, waiting for death in indulgence and negativity.
Death did not come as expected. Today, his muscles have atrophied and degenerated, his arms cannot be lifted, he is always extremely tired, his mouth cannot make a smiling expression, he cannot use straws and whistle, but he is generally alive and well, and even became an auxiliary police officer at the age of 18, independently completing all the examinations and training of the police force.
In 2018, China's "First Catalogue of Rare Diseases" was introduced, and like many people, Li Xin began to re-examine rare diseases. In 2019, he went to Beijing for medical treatment and was diagnosed with facial shoulder humerus muscular dystrophy at Union Hospital – which explains Li Xin's survival, although it is also a rare disease, but the danger level is greatly reduced, and the new diagnosis gives Li Xin the confidence to live.
Li Xin became a staff member of the Corde Rare Disease Center, found the meaning and value of life, and "seemed to have found a belonging at once."
In October 2021, Li Xin organized a doctor-patient exchange meeting in Shanghai for pseudochondria hypoplasia: "Although I may not be able to wait for my rare disease drugs to be developed, when I see these children with rare diseases, I think I can do something for them, which is really good." ”
Like Li Xin, there is also Kexin who has started a new life. When diagnosed with facial shoulder humeriomustrophy, Kexin, who had just been in freshman year, learned that this disease would be inherited, and she secretly wondered if she should not fall in love, should not get married, and should not have children.
Fate gave her a critical blow and a surprise, and the man still appeared in the heartwarming world. In July 2021, Ke Xin wore a wedding dress and quietly came to her boyfriend's fire squadron, and the two took the most special wedding photos in the fire brigade, and after the friend recorded it and passed it to Douyin, the number of views exceeded 3 million.
After graduating, Ke Xin also joined the Corde Rare Disease Center. She commutes 4 hours a day, and together with countless members of the patient organization, encourages 200 million rare patients, hundreds of millions of rare disease families, and encourages families like Tongtong's family:
Survive and live.
So far, of the 121 rare diseases included in the national "First Rare Disease Catalogue", 46 rare diseases have been treated in China, of which 58 drugs for 28 rare diseases have been included in medical insurance. The solution of the problems faced by patients with rare diseases such as difficult diagnosis, difficulty in medication, and difficulty in guaranteeing is being promoted by many efforts.
Small stones that can be medicated on schedule grow day by day. On January 22, during the two sessions of Shandong Province, Ma Hengxiang, as a representative of the masses, observed the opening meeting of the Fifth Session of the 12th CPPCC National Committee of Shandong Province, and completed the heavy task entrusted by the SMA family in the province - sending a thank you pennant:
"In the past two years, the CPPCC Shandong Provincial Committee and CPPCC members have been caring for us and helping us solve the problem of access to drugs."
Little Stone is four years old. In the past four years, Ma Hengxiang has witnessed that SMA has never been known, and now that special drugs have entered medical insurance, this pennant is far from expressing his gratitude.
Nowadays, the rapid approval of rare disease drugs in China, tax reduction policies, and the use of medical insurance negotiations to benefit more groups are the directions consistent with the overall national policy. More rare disease patients are still waiting, waiting for the support of all parties such as medical insurance, waiting for drugs to be listed in China, waiting for drugs to come out...
No one can look at it coldly. You know, rare diseases are not only crushed by patients themselves, but also family members whose blood is thicker than water.
According to the base of 20 million rare disease patients in China, more than 100 million people may be strangled by the claws of fate.
*(At the request of the interviewee, Li Xin is a pseudonym in the text)
Assessment of the Impact of the First Rare Disease Catalogue in China (2018-2021)
It has been 3 years since the first batch of national rare disease catalogues were implemented, how is the progress of clinical diagnosis and treatment, drug progress and policy support in the field of rare diseases in China?
From now on, the Health Bureau and the Corde Rare Disease Center will release the "Impact Assessment of the First National Rare Disease Catalogue (2018-2021)" from the six major directions of policy, industry, scientific research, clinical, society and patient organization.
This article is the first patient article.
For more excitement, stay tuned to the feature #Rare Diseases Directory
![Little Stone Legend[fig]](data:image/gif;base64,R0lGODlhAQABAIAAAP///wAAACwAAAAAAQABAAACAkQBADs=)