"Mom, I want to jump. Mom help me, why can't I jump? ”
Every time she hears her son Niu Niu ask like this, Zhao Shuqin (pseudonym) trembles in her heart. She didn't know how to explain it to Niu Niu.
Soon after Niu Niu was born, the couple noticed the abnormality - lying on the bed, swaying, and in less than two minutes, they would turn over. When sleeping, the soles of the feet and calves are in a straight line and can reach the mattress.
At first, the couple felt that it would be better to grow up.
Until the age of one and a half, children of the same age can run a few steps, and Niu Niu is still unstable. After going to several hospitals, Niu Niu was diagnosed with peroneal muscular dystrophy in Beijing. It is a rare disease with a prevalence of about 1/2500, and there are about 500,000 patients in the country. Typical presentation is weakness and atrophy of distal extremities with sensory deficits.
Some "experts" say that this disease may eventually lead to lung failure and death, so let go back and try to improve the quality of life of the child. At that time, hearing the introduction of the rare disease by the "expert", Zhao Shuqin's eyes went dark, "I feel that the whole world has collapsed".
Later, Zhao Shuqin learned that peroneal muscular atrophy generally does not affect lifespan, but during the development period, muscles will be lost and atrophied. Nowadays, Niuniu's treatment is carried out normally, and he spends half a day in the hospital every day, "racing against time".
Niu Niu. All photos in this article are courtesy of family members
Originally, the whole family just wanted to prove that the child was "not sick"
Almost every rare disease patient has a long and painful experience of being diagnosed.
Zhao Shuqin's family lives in Jining, Shandong Province, and both husband and wife are working-class. When Niu Niu was born in 2021, no problems were found in the pregnancy test and newborn physical examination. Zhao Shuqin explained that because she was born in the Year of the Ox, the nickname given to the child is Niu Niu, which means that the child is as strong as a calf.
At first, they found that Niu Niu was a little different, but the couple didn't care, thinking that Niu Niu might be a little late in development.
Usually, grandma takes Niuniu to play in the community square, and the neighbors noticed that Niuniu was still unstable when he was more than a year old.
The family decided to take Niu Niu to have it checked, "just to prove that my child is not sick."
The couple took Niu Niu to the Affiliated Hospital of Jining Medical College for CT and electromyography examinations. When I did the electromyography, I couldn't see the waveform at all, and at first the doctor thought it was a problem with the operation, but I still couldn't see it when I changed the director to do it.
"Little one, it shouldn't be." The director's words made Ms. Zhao's heart hang.
The CT results came back and found some softening in the brain. The doctor deduced that it could be cerebral palsy or Charoneal muscular dystrophy, and suggested going to a major hospital for another examination.
After that, the couple took Niuniu to a well-known tertiary children's hospital in Beijing and found an expert with the highest rating in neurology. At the time of the visit, the expert knocked on Niu Niu's knee, but there was no response at all, and the expert recommended a full exogenous gene test.
After waiting for the result for more than a month, the couple is like "waiting for God's verdict". In the end, it was diagnosed with peroneal muscular atrophy, and "heavy stones still fell down".
They went to Beijing again. Experts say that there is no cure for this disease, and it will quickly become disabled, and after returning home, just pay attention to improving the quality of life of the child.
Later, Zhao Shuqin learned that peroneal muscular atrophy is not so terrible, and it may indeed have claw-shaped hands and clubfoot, which will seriously affect breathing, but it will basically not affect life. She understands that patients have a right to know, and doctors sometimes say in serious directions, but for patients, "that pressure is too much."
Charcot-Marie-Tooth (CMT), also known as hereditary motor sensory neuropathy, has significant genetic heterogeneity, with the main clinical features being progressive muscle weakness and atrophy of the distal extremities with sensory deficits. Its incidence rate is 1/2500, and there are 2.8 million patients worldwide, about 500,000 in China, and the disability rate is relatively high, and there is no cure at present.
When sleeping, the soles of Niu Niu's feet can almost touch the sheets.
The best hope is stuck
After returning from Beijing, the whole family was on the verge of collapse, and half a year after the diagnosis, Zhao Shuqin and her husband did not talk about it properly, but just took Niu Niu for treatment step by step. "Both of them were in despair at the time, who encouraged whom to go? You don't believe the words of encouragement you say. ”
When there is no one around, Zhao Shuqin will cry secretly.
In her heart, children are the hope of a family, and they are also the best. For her, now, that hope is rarely stuck. In the long-term depression and self-blame, Zhao Shuqin once suffered from severe depression.
The burden of cow cow treatment falls on the cow cow and the grandmother.
Every morning at six o'clock, Grandma Niu Niu will pick Niu Niu up from the bed and take an hour's bus to the hospital for corrective treatment.
"It's like going to work, with only two days off on the weekend." Zhao Shuqin said.
Within one year of diagnosis, the treatment cost was more than 100,000 yuan. Daily, the family can save money.
In the most difficult time, Zhao Shuqin once wanted to stop being offended, and she was gone.
Looking back, she sighed, "If it's just one person, I definitely can't bear it." ”
Sometimes, seeing Niu Niu so cute, Zhao Shuqin will also be relieved, "I have experienced it myself, but the child's life has just begun." ”
Today, Niu Niu is only 3 years old, but he is like a "little adult". Before taking the medicine, he would say, "Mom, it's good to take the medicine, you can run fast after taking the medicine!" Zhao Shuqin said with a smile, I don't know if he is comforting me or himself.
I went to the hospital a lot, and Niu Niu became familiar with the processes of various departments. When I saw the doctor, I consciously squatted down and said, "Look, I can squat down." As soon as the doctor pulled his hand, he jumped and said, "Look, I'm still jumping." The doctor laughed and praised him.
When doing electrotherapy, Niu Niu will automatically pull up his pants so that they can be patched. Next, hand the patch and strap to the doctor. The little head melon also began to store memories. He knew exactly where he was in and what classes he was taking.
Niu Niu is being treated in the hospital.
Zhao Shuqin is an English teacher, Niu Niu will follow along, not only is there no problem in English communication in daily life, but even the English names of some hospital departments and equipment, he can also say it. When answering the doctor, he still dragged two sentences of English at every turn.
However, there are times when I am afraid. When the needle is pricked, because it has to be stranded for half an hour, it has to be pressed and not allowed to move, and Niu Niu will be very scared and cry.
When sleeping at night, Niu Niu occasionally has hysteria, saying in his sleep, "What about my feet, why can't I feel ......"
Because of the innate bad spleen and stomach, the diet of cattle and cattle should not be too mixed, and fruits should also be limited. Clever and clever, he will test Zhao Shuqin: "Mom, strawberries are so delicious." Can I take another one? When I grow up, I want to eat lots and lots of strawberries. ”
Zhao Shuqin was very sad, there were too many restrictions, she couldn't bear it, she didn't make restrictions, and Niu Niu was easy to get sick. In addition to daily treatment, almost every month, I have to go to the hospital twice because of Niuniu's fever and diarrhea.
Every day when she goes home from work, Zhao Shuqin will play with Niu Niu and tell him stories. When Niu Niu falls asleep, he will give Niu Niu a 1-hour massage massage.
"I have to get chicken blood twice a day, once at work and once after work, otherwise, I really can't persevere." Ms. Zhao smiled wryly and said that she was forced to become a superman.
Niu Niu is being treated in the hospital.
Niu Niu's dream: to become good friends with the little princess
After Niu Niu was diagnosed, Zhao Shuqin inadvertently found a patient community on the Internet of the "Qianlixing CMT Mutual Aid Home" for patients with peroneal muscular atrophy.
This made Zhao Shuqin no longer feel lonely. She finally understood that the onset of the disease was only a probability, and she did not have to blame herself for it.
Patients will pool diagnosis and treatment resources according to the classification. There will also be some green channel experts in the group, and sometimes a patient meeting will be organized.
Volunteering in the community also empowers the patients. For example, Zhao Shuqin, an English teacher, used her personal expertise to translate the latest progress of diagnosis and treatment from the United States CMT website and share it with patients. Zhao Shuqin feels that these voluntary actions have made her detach herself from personal experiences and begin to pay more attention to the fate of the group.
After more than a year of treatment, although he was wearing the most effective corrective shoes, after taking off the shoes, Niu Niu's small feet could still be clearly deformed: some contractures of the Achilles tendon, some valgus, and the toes were also very badly picked. The function of corrective shoes is to allow children to lift their feet to walk, protect the ankle joint, and prevent deformation. However, it can only delay, not eradicate, the problem.
According to Zhao Shuqin, according to experience, patients are likely to have chicken claw hands, clubfoot or high arch feet when they grow up, and their legs will be thinner, because of the loss of calf muscles, which will be like crane legs. These characteristics will be more pronounced during the two developmental periods of infancy and adolescence, when the child grows faster. "The current orthodontic treatment is a race against time, and the child becomes stronger in the plateau period so that he can cope with the huge changes in the developmental period." She said.
What makes Zhao Shuqin entangled is that Niu Niu is getting bigger and bigger, he likes to play with children, and it is normal to play and make trouble, do you want to tell other parents, saying that it is heavy, I am afraid that Niu Niu will be isolated, and if I say it lightly, I am afraid that Niu Niu will be accidentally injured.
Niu Niu has reached the age of going to kindergarten. After entering the kindergarten, I also faced this problem, and I was worried that the kindergarten would not dare to accept it. Because of limb weakness, he is unable to take care of himself. According to the experience of other patients, it is necessary to find a parent to accompany the care.
Some children are more naughty and will imitate the way Niu Niu walks. There is even a child who has beaten Niu Niu many times. Zhao Shuqin looked uncomfortable, but Niu Niu didn't care, Niu Niu also liked these naughty children.
Niu Niu still doesn't understand his mother's concerns, and will clamoring to go out to play and find his favorite brother An An. Because Brother An An is white and fat, and he is very elegant.
Every time before going to bed, Niu Niu will pester his parents to tell stories, and his favorite one is Grimm's fairy tale "The Frog Prince".
Listening to the story, Niu Niu will sleep peacefully. In the dream, the little frog will get rid of the magic curse because of a beating by the little princess, turn back into a handsome and handsome little prince, become good friends with the little princess, and play happily together.
Zhao Shuqin said that telling children's stories is to hope that this rare and huge group can be seen, accepted and supported by more people.
"For our children, and for ourselves, to be redeemed." Zhao Shuqin said.