Spinal muscular atrophy (SMA), a rare disease caused by loss or abnormalities in neurons, is common in infants and young children. Most children become ill within 6 months and have a survival cycle of no more than two years old, so they are known as the "first major killer of genetic diseases in infants and young children".
In fact, SMA is not far away. According to the statistics of domestic epidemiology, on average, 1 in 50 people are asymptomatic SMA gene carriers, and when both parents are SMA gene carriers, they have a one-in-four probability of giving birth to an SMA baby. Domestic obstetric examination has not yet involved the screening of SMA genes, so in the state of no intervention, each SMA baby is a "one in a thousand" existence.
The society's attention to the SMA group lies mostly in the clinical diagnosis and treatment level, and the difficulty of diagnosis and the sky-high price of special drugs have always been considered to be the two major reasons for the high fatality rate of SMA babies. With the inclusion of SMA special drugs in the national medical insurance directory this year, the accessibility of drugs is gradually improving, and how to make SMA babies get treatment as soon as possible has become the most difficult problem to be solved at present.
Recently, Eight O'Clock Kenwen interviewed the mother of an SMA baby. Her child was diagnosed two months after birth and received medication on the day of diagnosis. Because of the timely medication, the baby has regained basic mobility. In this process, the importance and positivity of the parents to the disease play a crucial role.
This article is compiled and written by the reporter of Eight Points Jianwen based on the dictation of the interviewee. In order to more realistically show the experiences and feelings of the interviewees, this article is narrated in the first person.
There are thrilling 10 points
I became pregnant with Junbao in November 2020, when I was 36 years old.
Because of my age, I have always attached great importance to pregnancy safety. My hukou is on the outskirts of Beijing. It is reasonable to say that after pregnancy, it is logical that I should file in this district and do obstetric examinations in this district. But in order to ensure that "nothing goes wrong", I tried my best to build a file in the best maternity hospital in Beijing.
For a normal pregnant woman, from pregnancy to the birth of the child, it is necessary to do about 10-15 obstetric examinations, and I have done no less than 30 times, and the obstetric examination alone cost fifty or sixty thousand yuan, but all the obstetric examination projects I have heard of, I have taken the initiative to ask to do, even including a very partial deafness gene screening, considering that the elderly in our family have the inheritance of deafness, I did not let go.
All the results of the maternity check-up were all the way to the green light until July this year, when I was sent to the delivery room. Fearing accidents such as suffocation during labour, I did not hesitate to choose a caesarean section.
There was also a small episode that day, and now it seems like a rehearsal of fate.
When Junbao was just born, there was a small sarcoma on the outside of the right ear, which we folk called "tethered horse stake", which is a feature of appearance and does not affect health, but it is a deformity in medicine. I had just given birth to Junbao that day, and I was sewing a knife edge when I heard the midwife say, report a deformity to the child. My body was still in anesthesia at the time, but my brain was clear, and this sentence frightened me, and I quickly asked the doctor, what is the deformity? What deformities? The doctor smiled and said it was all right, it was a small ear, and I put my heart back in.
In addition, everything in Junbao is normal, the height and weight are up to standard, the crying is very loud, the arms and legs are also very solid, and the newborn score is 10 points. When she returned home after being discharged from the hospital 3 days later, she has been in a good state, waving her arms, and pedaling her legs very hard, which is a particularly lively and active child.
△Images provided by the interviewees
Ominous premonition
The first to find the abnormality was the sister-in-law.
When Junbao was born a month ago, we gave her a full moon wine. After the banquet, sister-in-law Yue came to me and said that she felt that something was not quite right with Junbao. I said what's wrong, she said Junbao hasn't been very active lately. At that time, I was going to do a physical examination for the first month of birth, and I said perfunctorily, "Okay, I'll take my child to see." But I don't think so, I just think that girls, wen quiet is very normal.
The medical examination was done at the district hospital, where I had worked for a long time and knew the doctors in the hospital. On the day of the physical examination, several doctors from the health department said that it was slow development, and it was enough to go back and exercise more. I relayed these words to my sister-in-law, and she didn't mention them.
When junbao was 33 days old, we were having breakfast that morning, and a doctor who knew each other well called and said, Li Nan, after you went home, I checked some information and suggested that you still go to the hospital in the city to see again. At that moment, my heart clattered.
In the afternoon, I hung up the number of the health department of Beijing Children's Hospital. At that time, Junbao should have just degenerated, so she could still move, but her movements were very slow, and it was not like when she was a child, she could do some kicking or raising her hands. If you put her on the bed, she feels like she's sucked on by the bed and can only squirm against the bed.
The doctor initially judged that the muscle tone was low, so let's go back for a period of rehabilitation and then re-examine. At this time, the sister-in-law said a particularly key sentence next to her, she said, Doctor, this child was able to move before, but it was only recently. The doctor was alert when he heard this and suggested that we be transferred to neurology.
That's when we start to realize that something is wrong. I went to the Children's Hospital on September 3, and on September 4, I hung up the number of the Department of Neurology of the Capital Pediatric Research Institute. I was very impressed that day, after entering the consultation room, the doctor put Junbao on the medical examination bed, lifted her hand, lifted her leg, and then stimulated her inner thigh with a quill, and she did not have any tendon reflex during the whole process.
The doctor didn't say anything back to the computer. I watched from the sidelines when she knocked on the computer, and the diagnosis of her knocking was suspected spinal muscular atrophy (SMA). I am still relatively clear about the diagnosis and treatment process of the hospital, if only one disease is suspected, it is basically it.
At that time, I didn't know what the disease was, but it was already feeling very bad. I held the doctor's arm and asked her almost as if she were pleading, is there anything wrong, what a disease it is. The doctor's expression was very serious, from the beginning to the end she told me a word, first do the examination, no results before saying anything useless.
From denial to acceptance
Waiting for the results is hard.
I don't know whether it is a psychological effect or the onset of the disease is too fast, during this time, Junbao has a functional degradation visible to the naked eye. Originally, she could still move her feet horizontally, but slowly, her movements became smaller and smaller, and finally she could not move at all. When you pick her up, the whole person is hanging from head to toe, like a small marionette.
In addition, at that time, we also basically knew through the network that this disease is a rare genetic disease, combined with Junbao's age to judge, if yes, it is SMA1 type, which is the worst of all typing, most of them will die of respiratory failure before the age of 2. In such a situation, our first reaction is to refuse to believe, because there is no precedent for this disease in the previous generations of the families on both sides, and Junbao should not be.
So, in mid-September, we hung up the expert number of the Children's Research Institute. Before going, we still have a trace of "misdiagnosed" luck in our hearts, but after the experts saw the child, they directly prescribed us a special genetic test for SMA, saying that this will be faster, try not to delay the child's treatment. Although we were "tried" twice, we still did not die, and after coming out of the hospital, we found a third-party genetic testing company and sent the child's blood sample.
I have studied psychology systematically, and I know that at this time we are going through the initial stage of denial and isolation of grief, using the defense mechanism of the self to resist the invasion of pain. After this hurdle, there will be anger, negotiation and despair. It is precisely because I understand this that I can adjust myself very hard, since two authoritative pediatricians have given the same diagnostic opinion, the probability of error is almost zero, rational acceptance, positive face, perhaps what we should do most for Junbao.
That night, I had a long talk with Junbao's father. Before that, we even wiped our tears from each other's backs. That was the first time we talked openly, thoroughly, and without scruples about the child's illness. We even talked about whether to extate the child if the treatment situation is not ideal, and the two people cried a lot. That was the time when we reached a consensus that, whether diagnosed or not, we should be the most prepared for the worst outcome.
I first found the Meier SMA Care Center online and joined the type 1 patient group. Through the information of the patient group, I contacted the experts of Peking University Hospital again. Through the introduction of experts, I selected risperolam oral solution with powder as the first choice for Junbao. There are two reasons, the first is fast, and it can be used on the day of diagnosis. Second, I personally think that oral medications are more convenient than intrathecal injections. In addition, we also have a detailed understanding of who to prescribe, who to buy medicines, where to buy, what processes to go through, and what materials to prepare, and communicate with relevant personnel in advance.
At this time, I was like a soldier with a magazine hanging from his waist, just waiting for the command to fight.
Wipe away tears and go to battle
The first stormtrooper sounded on September 29, when we received three previous genetic tests.
When I received the first SMA genetic test report from the Pediatric Research Institute, I was breastfeeding Junbao. Junbao her father said that the report was coming, I was actually very nervous, but I pretended to be very calm, I said, what is the result. Her father should have seen it in advance, and said the same calmly, that is. Then my tears couldn't stop flowing, I had been doing psychological construction for a month, but the moment that really came was still collapsed. The second and third reports that followed were not unexpected, and the results were the same, my daughter belonged to the SMN7 chromosome purity and deletion, and the cause of the deletion was inherited from her parents.
Too late to digest the emotions, we quickly hung up the number of Director Xiong Hui of Peking University Hospital the next day. These processes are actually in our "battle plan", our initial plan is to receive a report at the latest 29th, so that the 30th prescription can be prescribed, and the medicine can be used during the National Day holiday, so that it can be diagnosed and treated early.
The truth is also really smooth. After finding Director Xiong Hui on the 30th, we provided the genetic examination report and the electromyography report, and the director saw that the materials were complete and quickly prescribed to us. After getting the prescription, we immediately rushed to the pharmacy to get the medicine, turned around and returned to the car to give Junbao to eat.
If there is no accident, Junbao should be the earliest SMA baby in China, that day, she just turned two months and three days. For me, that moment was also happy, because life grew new hope. For a long time, every time Junbao finished her medicine, her father and I would stare at her motionlessly, thinking that she would be able to move immediately.
About the 9th day after the medication, Junbao's hands began to move, followed by feet. Since then, there has been progress almost every day. On October 23, Junbao's limbs had recovered to the stage where they could be panned in early September, and I took her to Dr. Qin Lun of the Rehabilitation Department of Peking University Hospital. Dr. Qin Lun was very happy, in view of Junbao's limb movements, he assigned us rehabilitation homework, went home while nursing and recovering, and came back to review it a month later.
In a month's time, we did not ignore the importance of maintenance because of taking medicine, but also insisted on rehabilitation exercise every day in the case of good children's condition, and we really achieved maintenance, rehabilitation, and medication treatment. A month passed, Junbao's situation was better, the big arms could be raised, the head could rotate freely, and there was no sign of degradation in swallowing and breathing. After Dr. Qin Lun saw it, Lian Qua Junbao's progress was very fast, and if he recovered at this speed, he would definitely bring us surprises, and this sentence gave us great confidence and support.
Parent's mission
The changes in Junbao made me realize that early diagnosis and early diagnosis and treatment of drugs are crucial for SMA babies, especially SMA1 babies. They generally show symptoms of motor performance degradation in about a month of birth, followed by the degradation of swallowing and respiratory systems, which is irreversible, and if it can be found and treated as soon as possible, the baby can not only live, but also have a good quality of life.
Who will find out, there is no doubt that it is the parents. But the truth is that the treatment of many SMA1 babies is just delayed in the hands of their parents. We have always said that SMA is difficult to diagnose, from the time the child shows symptoms to the final diagnosis, it can be as short as a few months and as long as a few years. Of course, there are diagnostic reasons for this, after all, this is a rare disease, and there are only a limited number of doctors who understand and are familiar with the diagnosis, but more often the reason is that parents do not pay attention to it, or even do not accept it.
I added a lot of patient groups, and the average age of diagnosis of these children is about 6 months. Many times, it is the doctor who has given the direction of diagnosis, but the parents are just covering their ears and ringing the bell, and they will magnify the good side of the child to convince themselves that it is not the disease. First observed at home for a month, there was no improvement. It is suspected that muscle weakness, electrotherapy for a month, or no effect. Finally, a genetic test was done, and it was another month to wait for the report.
I believe that no parent wants to delay their child, and we ourselves have experienced such a "denial period", but as parents, you must realize that whether you believe it or not, whether you accept it or not, the disease is there. Every day and every moment you delay is giving the disease an opportunity step by step, pushing the baby away from you and pushing it to death with your backhand.
I know a young mom whose baby was diagnosed at two months and should have been lucky. From the day she was diagnosed, I kept advising her to take the medicine quickly, to take the medicine quickly. But she always said that the baby was in good shape, and so on. By the fifth month, her baby was sent to the ICU for rescue due to a choking milk, causing aspiration pneumonia, and his life was saved, but he had to rely on a ventilator and a gastric tube to maintain his life.
Many babies reach this step and will be abandoned. In all the families of patients I know, the whole family agrees, the elderly support, the parents are willing to do their best to treat no more than 10%, most of them are dads give up, only mom is still working hard. There is also the fact that both parents give up by default, and most of such children will be taken away by the elderly, without any intervention, and let him fend for himself.
You can't do a moral judgment on them, and every family has its own grievances and choices. I just feel that if we can put our efforts ahead, maybe we don't have to face such a painful choice.
My Lucky girl
Junbao is now 5 months old.
Because SMA patients need lifelong care and rehabilitation, we have been doing these things since the day Junbao was diagnosed. Every morning when we get up, we will give her a touch massage, rehabilitation exercises, followed by respiratory care, saline atomization, back pat drainage, sputum coughing machine, suction machine suction. The same process is done again at night before going to bed. Although she has not yet shown problems with her respiratory system, we dare not take any chances, one is that it is always right to do prevention early, and the other is to let her adapt to these unpleasant experiences brought by machines.
In mid-January, we'll give her another CHOP-INTEND score, a scale of 60 out of 60 for the infant neuromuscular disorder test. Junbao's first assessment score when she started taking the drug was 11 points, we looked at it with reference, according to her current state, there should be between 30-40 points, which is the most intuitive change in her medication for 3 months.
In addition, as the youngest SMA baby in the country, we made a decision for Junbao to shoot an assessment video as a public welfare and participate in the spinal muscular atrophy (SMA) clinical assessment scale standardization training program, aiming to standardize the formalization of SMA assessment in hospitals nationwide. I want to do these things, and Xiao Junbao is happy.
As parents, after three months, we have fully accepted the fact that she is an SMA baby, accepted the fact that she may not be able to walk alone for a lifetime, not only accept, we have also begun to decorate her beautiful future for Junbao, since she is alive, we must enjoy the sunshine, rain and ice cream in this world.
Compared with accepting that my child is an SMA patient and planning her future, what makes me more anxious and worried is that the people around me are looking at Junbao because of the disability. I am afraid that the society will not understand, support, and care, and I am afraid that Junbao will be ignored, abandoned, and forgotten. I am saddened that no matter how much I resist, this thing will eventually happen, no one can live as an island, Marx said very early on, people are the sum of social relations.
So sharing our experience is also to let everyone know more about rare diseases and understand the families of rare diseases. I like to believe that many times, people just don't know how to care because they don't understand. When we want to be seen, we are understood—we, like everyone else, are just ordinary people who try to live, even though we are turned into difficult mode.
I've already thought about it, and when Junbao understands things, I'll give her a more convincing identity. I'll tell her, Junbao, you're simply lucky. You have gone through so many obstetric examinations, evaded various screenings, and come to the human world safely; in the early days of your illness, there are powerful doctors who have discovered your disease and won valuable time for treatment; after you are diagnosed, there are special drugs for treatment in the world, you have become the youngest baby in the drug month, delaying the degradation; the most important thing is that you still have such an enlightened and optimistic father and mother, doing their best to protect your health. Oops, my baby, you're definitely a lucky girl!