"I want to be in better health, I'm better able to walk, I want to be able to walk, I want to be able to go back to school." At 11:00 a.m. yesterday (1st), Xiao Jun (pseudonym), a child with spinal muscular dystrophy (SMA) who had just received lumbar intrathecal injection treatment, lay quietly on the bed and said his New Year's wish.
On New Year's Day in 2022, the new version of the national medical insurance drug list was officially implemented, and high-value rare disease drugs landed on the first day of the new medical insurance policy. XiaoJun followed his parents from Foshan to Guangzhou Women's and Children's Medical Center early in the morning to apply for admission. The bill shows that the original 550,000 SMA treatment drug Nocinasin sodium only needs 33180 yuan after entering the medical insurance, and the patient's self-payment cost after medical insurance reimbursement is only about 9000 yuan.
In the ward, there are also rare children with rare diseases who also enjoy the "head soup" of the New Deal, and there is also a child with Fabrai disease, Xiaohua (pseudonym), and the annual cost of out-of-pocket treatment is expected to drop from 633,000 yuan to 37,000 yuan. The reporter learned that in order to allow patients with rare diseases to be treated with drugs as soon as possible, doctors in relevant hospitals in Guangzhou chose to work overtime on New Year's Day to treat patients.
Rare disease drugs enter the first day of medical insurance landing
The small patient in Huizhou left for Treatment in Guangzhou at 5 a.m
At 5:00 a.m. on the 1st, Xiaohua, who lives in Huizhou, set off with her parents to guangzhou women's and children's medical center. The family's long-awaited hope since his diagnosis of Fabray's disease could finally come true and he would receive his first treatment.
It is understood that Xiaohua, 11 years old this year, began to have gradually worsening pain in his toes at the age of 6. At first, it is only more pronounced after exercise or when the seasons change, and slowly, sleeping in the middle of the night will also wake up painfully. In his words, it is like "the pain after the hot summer sun", when the attack is unable to walk, go to class and play normally, and at its worst, the pain injections have no effect.
"Our house is only 200 meters away from the school, and he can't walk in pain. Sometimes the pain in class broke out, and he called me and said, 'Daddy, come and take me home...'" Speaking of the pain and suffering of his son, Xiaohua's father couldn't help but cry.
Xiaohua's parents took him around for medical treatment, and various routine examinations found no abnormalities. Some people have asked, will it be Xiao Huawei who evades school and "cheats"? "But his dad said, 'I know my kids too well, he doesn't do that.'" Insisting on not giving up and searching for information on the Internet, I felt that my son's symptoms were very similar to Fabre's rare disease. The first time he came to see a doctor in our department, he directly asked the doctor: 'Will my son be this disease?' Liu Li, director of the Rare Diseases Branch of the Guangdong Medical Association and director of the Genetics and Endocrinology Department of the Municipal Women's and Children's Medical Center, recalled.
After examination, it was found that Xiaohua's peripheral blood leukocyte α-galactosidase index was 0, and gene sequencing found that Xiaohua carried the disease-causing gene mutation and confirmed Fabre disease.
Fabre disease is a clinical syndrome caused by a genetic mutation in the X chromosome that causes structural and functional abnormalities, causing its metabolites to accumulate in large quantities in multiple organs throughout the body. Most pediatric patients present with limb paresthesias, less sweating, and gradually may have hearing impairment, dizziness, tinnitus, corneal and retinopathy, left ventricular hypertrophy, progressive renal failure, and other problems.
In August 2020, the specific treatment drug for Fabre disease, agasase, was listed in China, but because it did not enter medical insurance, each drug patient needed to pay 12180 yuan at his own expense. With Xiaohua's current weight, two sticks are needed for a single treatment, which must be used every two weeks, and the annual treatment cost is as high as 633,000, and it is necessary to use drugs for life. Xiaohua's father can only do some scattered work because he has to carry his children to school every day, "this treatment cost is really no way for our family", and therefore, Xiaohua has not been able to receive treatment.
Not long ago, the news of the "soul bargaining" of the medical insurance negotiations made the Xiaohua family once again ignite hope. "I know that Director Liu Li and many other experts have been pushing the government to do this thing, and I really didn't expect it to be so fast (to get into medical insurance)!" Xiaohua's father described it as the government's "good governance." It is estimated that after the reimbursement of medical insurance and "Hui medical insurance" (Note: commercial medical insurance under the guidance of the local government in Huizhou, similar to Sui Shikang), Xiaohua's annual treatment cost will drop from 633,000 yuan to 37,000 yuan, a comprehensive reduction of 95%.
Liu Li introduced the cost of treatment for Fabre's disease before and after entering the national medical insurance directory.
Drugs for spinal muscular dystrophy
From 550,000 yuan at your own expense to 9,000 yuan at your own expense
The Health Insurance Negotiations in November directly benefited a group of patients with rare diseases. Guangzhou Women and Children's Medical Center is one of the first batch of rare disease diagnosis and treatment cooperation network hospitals in China, and is also the leading hospital at the provincial level.
"In the past, because of the high price of drugs, our hospital confirmed some fabre patients, but never had patients treated." Liu Li said that Xiaohua is not only the first batch of patients to receive treatment in the country after the ERT drug agasase α the policy of entering the medical insurance, but also is likely to be the youngest drug case in the country.
Agasacidase entering the national medical insurance directory α concentrated solution for injection.
Another rare disease, spinal muscular dystrophy (SMA), before entering medical insurance, the cost of treating the drug nocinnasine sodium was 550,000 yuan, and in the past two years, Liu Li's department has only received treatment for more than 20 patients. Just after the successful health insurance negotiations, many parents of children were overjoyed to hear the news and were ready to start treatment, "Before January 10, 17 patients will start treatment with us." According to Xiaojun's discharge bill this afternoon, the current price of sodium northenoxa is 33180 yuan, and after medical insurance reimbursement, the single treatment cost is only about 9,000 yuan.
At the First Affiliated Hospital of Sun Yat-sen University, an adult patient, SMA Kobayashi (pseudonym), also walked into the clinic of Li Jing, the attending physician of the neurology department of the hospital, at 8 a.m. When Kobayashi was more than 11 years old, he began to have symptoms such as weakness in both lower limbs, slow walking, and weakness in squatting, and in 2015, he was diagnosed with a rare disease of spinal muscular atrophy (SMA) in Zhongshan First Hospital.
Due to the high price of drugs to treat the disease, Kobayashi has been unable to use the medicine, and his symptoms have worsened year by year. Today, the new version of the medical insurance drug list is officially implemented. The drug that treats SMA, Nosinasso Na, officially entered the medical insurance, and Kobayashi rushed to the Zhongshan First Hospital for the first time, "Finally you can use the medicine, and you can finally live like a normal person in the future, so happy!" ”
It is understood that on the first day of the landing of the new medical insurance drug list, nearly 20 SMA patients in hospitals in 11 provinces and cities such as Guangdong, Beijing, Shanghai, Zhejiang, Sichuan, Shandong, Hunan, Hubei, Fujian, Jiangxi and Henan received sodium treatment with nocinasine.
"Didn't want to wait for 3 days"
Medical care works overtime to treat patients
Since rare diseases are chronic diseases, during holidays, the relevant departments generally do not admit new patients except for emergency patients. "But these children and parents are looking forward to this day too much, and they don't even want to wait for the 3-day New Year's Day holiday." We thought, we still have to meet their urgent feelings, it is worth it to add a shift for them, so this morning before 8 o'clock, the medical staff of our department have also arrived. Liu Li said.
"Although the first day of the New Year's holiday will be overtime, we are very happy, today is the first day of the landing of the new medical insurance policy, which is of great significance to China's SMA and even the field of rare disease treatment." I know that almost all families of SMA patients are looking forward to this day, and I am extremely happy and proud to be able to join my colleagues in the injection treatment of the first SMA patients, even if I have to give up the holiday break. Li Jing said that previously, doctors often encountered some SMA patients who gave up treatment or interrupted medical treatment because there was no drug to treat or the burden of treatment costs was too heavy, and now the drug entered the medical insurance, which can really help patients gradually get out of the dilemma of "having drugs that are not available", reducing the economic burden of the patient's family, and effectively reversing the diagnosis and treatment dilemma of SMA.
Due to the small number of people with rare diseases, the low market demand, and the high cost of drug research and development, patients often face the situation of "no cure" or expensive drug prices. After this medical insurance negotiation, 7 high-value rare disease drugs entered the catalog, and Liu Li, who has been running for the medical protection of rare disease patients for many years and drumming and shouting for rare disease drugs to enter medical insurance, said that it is a big progress. At the same time, she called on all sectors of society to continue to care about the situation of rare disease patients, hoping that more rare disease drugs will enter the medical insurance list.
Source: Guangzhou Daily