Rare Disease Day has just passed, and the International Mucopolysaccharide Storage Disease Care Day is approaching again. Mucopolysaccharide storage disease (MPS), a rare disease with a total incidence rate of less than 1/25,000, is facing a difficult choice of one of three. The good news is that there are drugs. Under the special enzyme replacement therapy of , the general cost of children with size and weight is more than 1 million per year; the second option is to perform hematopoietic stem cell transplantation, which is huge in a single investment, and the transplantation has certain risks. The last and most families have the choice, maintain the status quo, deal with the problem symptomatically, and hope that the complications of heart lesions and spinal deformities of the child will not come or come later.
This is a rare group of diseases, and the characteristics of patients and children are obvious. The good news is that there are drugs that can be treated, but it is very expensive.
htmlOn the 24th, a multidisciplinary free clinic for mucopolysaccharide storage disease initiated by Beijing Zhengyu Mucopolysaccharide Rare Disease Care Center was held at Huatai Hotel. "Since our center conducted urine mucopolysaccharide analysis, enzymatic analysis, and gene analysis in 2008, more than 260 children with mucopolysaccharide storage disease have been diagnosed, of which more than 40 have undergone hematopoietic stem cell transplantation treatment. Since 2019, MPS IVA, MPS I and MPS II enzyme replacement drugs have been launched in China. Due to the high cost, there are only a handful of patients who really plan to start using enzyme replacement therapy. If does not have medical insurance policy support, there are still a few families that can support expensive treatments every year," said Zhang Wen, director of the Department of Genetics and Endocrinology of Guangzhou Women and Children's Medical Center.Zhang Wen of the Department of Genetics and Endocrinology of Guangzhou Women and Children's Medical Center is sharing the latest progress in disease treatment.
Rare disease group with extremely low incidence rate
Confirmation cycle is shortening
"Sticky Baby" is a beautiful name for children with mucopolysaccharide storage disease, but having a family with a child is not sweet.
Due to gene mutation, the hydrolase activity of degrading mucopolysaccharides in lysosomal cells in children with MPS decreases, and mucopolysaccharides cannot be degraded and metabolized, and eventually accumulate in cells throughout the body. This disease is a very important category in lysosomal storage diseases. It can be divided into seven types, including 7 types, including I, II, III, IV, VI, VI, IX, among which Ⅲ are divided into four subtypes: IIIA, IIIB, IIIC, and IIID. Type IV is divided into ⅣA and ⅣB subtypes. Although there are differences in the pathogenic genes and clinical manifestations of each type, it is collectively called mucopolysaccharide storage disease because the stored substrates are mucopolysaccharides. On May 11, 2018, the National Health Commission and five other departments jointly formulated the "Catalogue of the First Rare Diseases", and mucopolysaccharide storage diseases were included.
Due to mucopolysaccharide storage, the child's body surface characteristics are abnormal. The liver and spleen are enlarged, the face is rough, the boat-shaped head, the forehead is protruding, the eyebrows are thick, the eyes are protruding, the bridge of the nose is low, the nostrils are turned up, the tongue is oversized...
Also due to the accumulation of mucopolysaccharides, the children's eyes, intelligence, liver and spleen, joints, and even heart valves will be affected. Because it is rare, several years ago, the clear diagnosis cycle of such children is often long. Because of corneal turbidity, go to the ophthalmology department, and intellectual retardation goes to the neurology department. After the heart valve lesions appear, patients may seek treatment in the cardiology department and joint lesions, while children seek treatment in the orthopedic department. During the on-site free clinic session of
, three doctors communicated with mucopolysaccharide patients and their families.
For a long time, it takes 4-6 years for the child to go from onset to the final diagnosis. Now, with the publicity and academic exchange of knowledge on rare diseases, doctors' understanding of the disease has also increased, and the diagnosis cycle of children has been greatly shortened. However, after diagnosis, the existing intervention and treatment methods appear to be abnormally short of.
"In addition to the three types of mucopolysaccharide storage diseases, type I, II, and IVA, because drug access has been approved, enzyme replacement therapy can be better controlled. Other types have no specific drugs for the time being, and symptomatic treatment is the main method. Or, hematopoietic stem cell transplantation." Director Zhang Wen revealed that at the Guangzhou Women and Children's Medical Center, the Department of Genetics and Endocrinology and Hematopoietic Oncology have worked together to complete hematopoietic stem cell transplantation in more than 40 children with MPS, with the transplant success rate being around 94%.
Practice can relieve it by taking medicine
Stop the medicine and return to the origin
Mr. Chen from a brother city in the Pearl River Delta is the father of a child with MPSⅡ. The child has beenhaved normally from birth to 2 months old. An oblique hernia may then begin to appear, and severe recurring fever will not subside. The liver and spleen are swollen, and heart valve lesions appear one after another. The child's intellectual development begins to be abnormally hysteresis and his exercise ability is low.
It is difficult for local doctors to understand these inexplicable symptoms of children, and they have even checked for tuberculosis. Finally, when the child was over 4 years old, he was clearly diagnosed as MPSII at Guangzhou Women and Children's Medical Center. At that time, foreign pharmaceutical companies had developed drugs needed for enzyme replacement therapy for this type of MPS.
The patient's family member Mr. Chen explained his medical treatment journey.
Just then, South Korea began to conduct international recruitment, which gave Mr. Chen hope. By applying, his child received a one-year free enzyme replacement therapy opportunity. During the treatment period, he could see that the child's condition improved, the liver and spleen shrink, and the heart valve lesions improved, and he could take 10,000 steps a day.
can treat after stops . Shortly after returning home, the child's condition began to rebound and began to continue to worsen, and his exercise ability also decreased.
Even though this drug is also introduced in China, the child's condition has not improved. It’s not because the drug is ineffective, but because the drug costs of are high, with a year of more than 1 million yuan. Even if it is located in the prosperous area of the Pearl River Delta, Mr. Chen still cannot reach it.
The same experience happened to Ms. He and his son. They are also of MPSII. They also received free enzyme replacement therapy in South Korea. Because of their serious condition, they even received two years of treatment. Then as soon as the treatment was over, after returning to China, he returned to the starting point . "As such a sky-high price, several families can afford it."
A successful hematopoietic stem cell transplantation
But the child is still undergoing surgery to repair
Ms. Li from Guangzhou also has a "sticky baby". The child is 8 years old now, but he has received no less than six surgical treatments over the years.
"It took half a year for the child to be diagnosed. More and more doctors realize this disease and will immediately refer to the diagnosis center for diagnosis." Ms. Li told Nandu reporters that the child was diagnosed at the age of 1 and has been undergoing targeted and active treatment after the diagnosis.
html When I was 02 years old, I had a catheterization of otitis media (one of the complications) and ablation of adenoid hypertrophy; when I was 03 years old, my child had ventricular shunt and surgical hernia treatment due to hydrocephalus. html When he was 04 years old, he planned to undergo hematopoietic stem cell transplantation, but he had to find a perfect match in the vast crowd, just like looking for a needle in a haystack. "The best treatment effect of umbilical cord blood has not been obtained from the public library; the Chinese Bone Marrow Bank and Taiwan Tzu Chi have both found it, but it cannot be done. Finally, let's settle for the second best. uses the stem cells of the child's father to do semi-compatible hematopoietic stem cell transplantation. "Fortunately, the child survived the hematopoietic stem cell transplantation. The treatment effect after
stem cell transplantation is also obvious. The child's liver and spleen amplification has subsided, and his intelligence and exercise ability have been improved.
to 5 years old and 6 years old, the child received hydrocele treatment and knee valgus correction.
"The child can now enter special classes in public schools for study, but his intelligence seems to have stagnated after a brief improvement."
All the way, Ms. Li's treatment experience is to follow the experts' advice and then evaluate the risks and benefits of each treatment. " While believing in medicine and doctors, parents should also take care of themselves. The confrontation with mucopolysaccharide storage disease is destined to be a protracted war. These children need lifelong care for parents. "
Osteoarticular deformity is another major complication of mucopolysaccharide.
We must find a way to make "sticky babies" use medicine
my country's huge population base is destined to have a large group of rare diseases with a low incidence rate. The same is true for children with MPS. In the Beijing Zhengyu Mucopolysaccharide Rare Disease Care Center, more than 400 families have joined.Chairman Zheng Yu of the Center told Nandu reporters that like Mr. Chen and Ms. He’s situation, most families in the group cannot afford expensive enzyme replacement therapy to control and alleviate the condition.
Create a group to keep warm. In addition to exchanging treatment experience, it also hopes that children's families can afford it when medicine is currently available. "The most important thing is to hope to get support from medical insurance. After all, this group is not huge and has a relatively small impact on medical insurance funds."
Zheng Yu said that at present, some areas of China can be reimbursed for mucopolysaccharide drugs, including Chengdu, and Guangzhou, Foshan and other places also have some support for urban commercial insurance. Shandong, Zhejiang, Jiangsu and other provinces are paying attention to mucopolysaccharide diseases.
And those children who do not receive medical insurance support still need to wait.
Interview and writing: Nandu reporter Wang Daobin
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