A different kind of Children's Day: they are one in ten thousand and aspire to live like normal children

author:Peninsula Network

Peninsula All Media Reporter Teng Jingshu

Running, jumping, playing, June Day is a festival for children to let go of their nature. In the summer, they can work up a sweat and enjoy the vitality of their age.

This is the "June Day" of ordinary children, and this "ordinary" is a lifetime luxury for some children. Niu Niu (pseudonym) is one of them.

June 1 is the third Children's Day in her life. What is special about different from previous years is that this year she can finally stand and play normally. To outsiders, she is no different from ordinary children.

"None of us have ever had a rare disease, and we've never heard of spinal muscular atrophy (SMA)." The diagnosis of the girl pulled the young parents into the abyss of despair, and the originally happy and dull life fell into a cycle of constant medical treatment.

Fortunately, everything is improving, the development of science and technology, the progress of medicine, the improvement of policies... SMA families like Niu Niu have ushered in more and more hopes and smiles. Today, innovative approaches are not just usable, they are affordable – health insurance negotiations released earlier this year show that oral small molecule therapeutics have been officially included in the health insurance catalog. This light of life has shone on Niu Niu and many children with SMA.

Rare disease is diagnosed at 8 months

"Come, girl, let Auntie see that you don't need to hold the handle anymore." When the reporter came to Niu's house, she was practicing standing. Grandpa was supporting Niu on the side, and when she saw the reporter, Niu Niu raised her fleshy little hands and smiled happily to greet everyone.

Niu Niu is a smart and well-behaved little girl, originally like other children, she was the hope and treasure of the family, "three turns and six sitting", everything is not lost. When she was 8 months old, her family found that she could not stand and her muscle strength was somewhat weak, so they took her to a local medical institution, and the doctor judged that she was a little stunted. However, calcium supplementation did not relieve the symptoms of the girl, and the child's muscle strength became less and less. After going to many medical institutions, the girl was suspected of being SMA, and the doctor told her family at that time: "The child will not live a few years, although there is medicine now, but it is very expensive." Looking at the lively and cute daughter in her arms, Niu's mother cried in a collapse. "At that time, my head was blank, and I couldn't accept or believe that my child was that one in ten thousand."

The family was never able to accept this reality, and later the Niu Niu family went to Beijing for further examination, but fate still failed to favor the small family, and at the age of one and a half, Niu Niu was diagnosed with SMA, a rare disease that affects only 1 in 10,000 surviving newborns.

SMA is a group of motor neuron diseases that cause muscle weakness and atrophy. Because motor nerves originate from the spinal cord, the muscles that control the body's activities such as breathing, crawling, walking, head and neck control, and swallowing; Therefore, as children with SMA grow, when their weak muscles are difficult to meet the needs of daily activities, it will lead to deformation of bones and spine, which may lead to breathing problems and further loss of physical function, and even death.

In order to facilitate medical treatment and rehabilitation, Niu's family traveled several times, from Ningbo to Jining, Beijing and Hangzhou, and then to Qingdao, Niu's mother even quit her job as an international school principal in order to focus on taking care of her daughter, she told reporters, here there are more than a dozen families of the same SMA patients, they chose to huddle together, encourage each other, forming a unique and warm SMA family, "Some families come from Chongqing, Guangxi and other parts of the country, every Saturday we will organize a gathering of parents and children." ”

In order to create a learning atmosphere for the children and experience the collective environment, Niu's mother will arrange English corner time every week to teach these children to learn English, "There is a baby called Guoguo (pseudonym), he is seven years old, every time after rehab training is already very tired, the grandma who took care of him said go home and rest, but he still has to keep studying, he said to his grandmother that I must go to class, I want to learn new things." Because he should have been in the second grade at his age, unfortunately he could not return to school, his English pronunciation is particularly good, and he is a particularly good child in English class. His enthusiasm for learning has touched many parents, and it has inspired parents to hope for healing again and again.

A different kind of Children's Day: they are one in ten thousand and aspire to live like normal children

Home treatment and rehabilitation are Niu's daily "homework"

"Catch the good times and finally afford to take the medicine"

"I never thought my child was a rare disease patient, and we experienced confusion and despair, but our family was strong and optimistic, and it was sad when we were first diagnosed. But my husband and I quickly came out of the pain, faced this matter squarely, and treated her as a normal child, although she was a little weaker than other children, but she was very intelligent and wise. "Niu's family faces this disease squarely, and Niu Niu fights the disease with her perseverance far beyond her age and positive and optimistic parents.

However, the problems of "difficult medication" and "expensive medication" are like a huge black curtain, which has become a real dilemma for SMA patients and families, blocking the eyes of rare disease patients looking to the future.

After the medical insurance negotiations at the beginning of this year, the dark night finally ushered in the dawn. The innovative SMA oral treatment drug rispram was officially included in the medical insurance, sending the warmest Chinese New Year wishes to SMA patients in the "cold winter". This not only greatly reduces the cost of medication, but also allows the children to realize their wish for home treatment, in fact, it saves the time and opportunity costs of hospitalization, surgery, escort, and long-distance medical treatment for many families. On the other hand, it is also a great psychological support, and more children are expected to prolong their lives and embrace a better life.

"After the good medicine comes out, everything is possible!" Happily, after two months of taking the medication, the girl's condition has improved a lot, she can stand longer, sleep and breathe more smoothly than before, an improvement that the parents had never expected.

"We really caught up with the good times and finally could afford to take the medicine." Niu's mother said that since taking the medicine and rehabilitation, Niu Niu has now made great progress than before, and their whole family is happy about it, "We Niu Niu is the best!" ”

Life-saving drugs "illuminated" the SMA family

After a period of treatment, the chick is already able to stand and play normally, showing a warm smile from time to time, and it is difficult to see how it is different from a healthy child. "Practice hundreds of times, thousands of movements, in order to change from quantity to quality, you see our leg strength is getting better and better, from slowly we will stand for a while." Niu's mother has great confidence in Niu's recovery, "I am very optimistic, I think she is very promising to enter primary school, although her athletic ability is not so good, but she can also enter the classroom like normal children to learn, as long as we do not give up treatment, there will be such a day." ”

"The children with rare diseases around us show that they are stronger and more optimistic than ordinary children, and sometimes Niu Niu will also be curious that the children around her can run and jump, but we will not hide it, I will tell Niu Niu to treat this matter as a very common thing, can not hide from her, to face this disease, slowly cure it." Niu's mother said firmly, "SMA has no effect on our thinking logic, it affects the body." Recently, she also bought a lot of cartoons for Niu, and she likes 'Qiaohu' the most. ”

"I am really grateful to the country and the government, the policy is getting better and better, and it is our strongest support. This is a lifesaver, and without medical insurance, many of us can't stick to it, and the pressure is too great. Niu's mother said movingly that the inclusion of life-saving drugs in medical insurance is like shining a light into their SMA family, and now the rare disease policy environment is getting better and better, social help is increasing, prices are becoming more and more beneficial, and parents are confident that this disease will be cured one day.

Every "small action" is a hope of life

SMA can be divided into 4 types according to the severity of the disease: type I onset within 6 months, never able to sit alone, most died of respiratory failure within two years of age; Type II 6~18 months onset, can sit but can not stand and walk, can survive to 10-20 years old; Type III onset in early childhood, able to stand and walk alone; Type IV onset in adulthood. It is understood that data show that the incidence of the disease in newborns is about 1/6000~1/10000, the number of new SMA patients is about 850 every year, and there are 20,000~30,000 patients in China, nearly 80% of which are type I and II. Therefore, SMA is also known as the "number one genetic disease killer" for infants and young children under 2 years old.

A different kind of Children's Day: they are one in ten thousand and aspire to live like normal children

Vice President Cao Hongjin of Qingdao Encephalopathy Rehabilitation Hospital gave detailed home care advice

Unlike other rare diseases, the clinical manifestations of SMA vary greatly. "In the natural course of the disease, the survival rate of children with SMA type 1 was low, and the functions of exercise, upper limbs, and walking in children with type 2 and 3 showed a significant progressive decline. The ability to preserve or improve daily living is a common expectation of all families with children with SMA. Cao Hongjin, vice president of Qingdao Encephalopathy Rehabilitation Hospital, where Niu Niu works, said that SMA has a high misdiagnosis rate around the world, and the later the onset, the higher the misdiagnosis rate." Genetic testing is an effective standard for SMA screening and diagnosis, which can achieve early detection, early recognition and early diagnosis. If SMA can be screened out before symptoms appear, it is a particularly helpful help for families. ”

A different kind of Children's Day: they are one in ten thousand and aspire to live like normal children

At present, the girl is able to stand

In addition to improved access to medicines, new breakthroughs are being made in patient care initiatives. On the occasion of Children's Day 2023, Roche Pharma China once again joined hands with dozens of hospitals and expert teams in dozens of cities across the country to jointly launch the "Relay of Love, Send Love to Home" SMA patient care public welfare action. In order to solve the problem of inconvenience for children with SMA, "seeking medical treatment" has changed to "door-to-door", and multidisciplinary experts personally go to the patient's family to provide professional medical support and meticulous home care advice for the patient. I hope that from this Children's Day, SMA children will gain confidence and love to look forward to a future where they can run freely.

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