Current location - Plastic Surgery and Aesthetics Network - Plastic surgery and beauty - Diagnosis of rare diseases: 28 years! I just know that I have this "strange disease"!
Diagnosis of rare diseases: 28 years! I just know that I have this "strange disease"!
Every day, I watch my physical condition deteriorate, my motor function deteriorate, and I get weaker and weaker … but I don't know what strange disease I have? This makes me feel that I am already a dying person. I am afraid that only people with similar experiences can deeply understand this helplessness and confusion.

I have often fallen since I was a child, and my physical strength is not as great as that of children of the same age, but I can still walk several kilometers. My primary school is about three kilometers away from my home, and I am a day student like all my classmates. Although you can't go to school side by side with your classmates and always fall behind, you won't be late for school because of this. When squatting in the toilet, I can barely stand up with my ankles supported by my hands. Due to the limitation of environment and conditions, parents always think that with the growth of age, they will slowly "heal themselves". I have never been to the hospital for a "thorough investigation".

In the fourth grade, there are more and more falls, because every time I fall, I accidentally fall on my knee, and there are many "marks" on my knee. Especially in rainy days, the knees of trousers are always covered with wet rain and mud. Even many times, I broke my pants and knees ... Once, my father heard from my classmates that some experts were coming to our county hospital, so my parents took me to the hospital for blood tests and hip joint examinations, all of which showed normal. These experts can't find out the reason, so they suggest going to the provincial affiliated hospital, which is more authoritative than other county hospitals. After my parents discussed it, my father bought a plane ticket on the same day and took me to the hospital in the province alone, where I had an "electromyogram" and experienced the "acupuncture experience" for the first time in my life. That kind of "acid" oh, the average human body won't drip! Hehe, later I got the results, and the electromyogram showed "extensive (extensive) injury of muscles and nerves". The doctor did not say the specific name and pathogenic factors of the disease, nor did he say important information such as whether the disease would develop. He only said three words-rule! Don't! Yes! This statement is also quite concise! Although I feel that I have been given an ultimatum, it may be because I am young and the conditions are still "too good". I didn't have negative psychological changes because of the doctor's concise reply.

Time is ruthless, and disease is ruthless. With the passage of time and the growth of age, the motor function becomes weaker and weaker. You need to rest after a few steps, but you can't get up when you are squatting. When you go up the steps, you must grasp the railing.

High school is a critical period of intense study. However, I finally passed the senior high school entrance examination and was admitted to the city's key high school. Most of the time when my classmates studied hard, I was struggling with the disease. I live on campus, because there are no steps with handrails, I can't go to the canteen to eat; Because I couldn't get up by squatting down, I struggled to stand up after going to the toilet many times and fell in the toilet. In order to reduce the frequency of going to the toilet, I have to refrain from drinking water, drinks and "junk food" every day. Because of the "extremely cold and hot" weather in winter and summer, I crawl slowly like a snail on the line only a few hundred meters between the dormitory and the classroom. Sometimes when I am halfway up, I have no strength to continue walking, standing helplessly … take a break, take a break … just take a break, others will run away in a few minutes and I need at least half an hour.

I can endure physical and psychological torture. However, the most desperate thing is that the biggest blow brought by the disease is the great decline of my study! So that the college entrance examination did not achieve ideal results and was not admitted to a better school!

I feel that I am still very strong, but in many difficult and helpless moments, I can't help but be discouraged when I live alone in school and often stay alone in the dormitory. I couldn't help crying when I called my mother several times. After listening to my story, my mother also understood the aggravation of my illness and my difficulties at school, but there are still several brothers and sisters to bear at home, so what my mother said to me most was "No way, you can hold on by yourself …" At the same time, I also discussed my diagnosis with my father again.

So, in the summer of 20 12, after my college entrance examination, my parents took me out of the province for the first time, and I experienced several transfers on the way. My mother and I both experienced carsickness as painful as a serious illness, so that it was so painful to see or hear the word "bus" later. Finally arrived at Chongqing Southwest Hospital. The next day, my father confidently boarded the "Expert". In order to wait for this great expert, my parents and I stayed in the hotel for a week with great expectation. During this period, I experienced a special "needle service" and was praised by the doctor: You are really a strong little girl. Many big men make a hullabaloo about when they are stabbed, but you don't say a word ... I secretly laughed. However, I can't laugh at the later results. EMG examination and expert's conclusion are the same as those of our provincial hospital. As it turns out, experts are not necessarily what we think. Their attitude is not good, some are not rigorous, some are unprofessional ... The ten-day diagnostic trip in Chongqing brought not hope, but despair again. The hot weather in summer can't stop my mother and me from crying. When we left the hospital building, we all quietly shed tears!

I was admitted to the only university in our city (an ordinary two colleges). After coming home from Chongqing, it's almost time to start school. I visited the school and found it impossible to live alone in my physical condition. After discussion, my brother also suggested that my mother accompany me. Thus, the four-year long period of a mother accompanying her daughter to college began. Only my mother and I can understand the hardships of these four years. We rent a house outside the school, and my mother sends me to and from school on time every day like a kindergarten child. The journey to the classroom is not only long, but also violent. My mother carries me across hundreds of steps every day ... My father alone bears all the expenses for my brother and sister to study and our rent of several thousand yuan a year. These four years, I am happy, but also extremely painful. Fortunately, during this period, I have the infinite support and companionship of my family and the help of my classmates; Sadly, I made the burden on my family heavier. I used to be depressed and manic, afraid of the dark and the night. Wake up in the middle of the night for no reason, often can't sleep all night …

Four painful years have passed. However, in the days that followed, there was no such thing as "another village with a bright future" and "sunshine always comes after rain" … I graduated and lost my job. Because the disease is getting stronger quietly.

Now, I can hardly leave In recent years, I have been actively searching for knowledge and information about this kind of diseases, supplementing some vx similar to patients with diseases, and further understanding the results of electromyography-neuromuscular injury is not a specific disease, but a general term for some rare diseases. In the communication with patients, I learned that there is a rare disease team in Huaxi Hospital, which specializes in diagnosing rare diseases. As a result, the idea of "diagnosis" sprouted again. After countless ideological struggles, I confessed my wishes to my parents in a conversation last year. Enlightened parents immediately agreed and supported my idea without any hesitation or delay. Soon after, I made an online appointment with experts from the rare disease team of Huaxi Hospital, and my mother and brother accompanied me on the journey of diagnosis again.

Fortunately, this time there is no despair and chilling. ? Finally met a real professional expert. In the hospital, after the other doctors in the team evaluated the condition, Professor Shang and I got in touch, and Professor Shang really only visited me for a few minutes. I explained to her the three purposes of my medical treatment, which I planned before I went to the hospital: first, diagnosis; The second is whether there is a treatment or rehabilitation method; The third is whether there is heredity. After the doctor's assessment and face-to-face consultation, Professor Shang suggested that suspected SMA (spinal muscular atrophy) should be tested and genetic testing should be done to confirm the diagnosis. After that, we did electromyography, and it was already three or four in the afternoon. Because we are worried about missing the high-speed train, we plan to rest in the hotel for one night, calculate the time and go home at noon the next day.

When I was in the hospital, I was told that the genetic test results would take about a month. Because of the Chinese New Year and the epidemic, I don't think it is possible to get the results so soon, and I haven't received the doctor's notice. Although I kept thinking about it, I didn't ask. Almost two months later, on March 13, I got up the courage without expectation, and assessed whether the doctor's genetic test results of my condition came out before WeChat asked. She said that they have received the electronic version, and I will find it and send it to me later. I looked calm because I knew something about SMA before I went to the hospital and found that it described the same symptoms as me, except for muscle atrophy. In addition, later in the hospital, Professor Shang suggested that the suspected SMA should be checked and signed. Makes me more convinced that I am an SMA patient. Therefore, it is further understood that SMA is a rare disease, and its medical name is spinal muscular atrophy (SMA), which is a recessive genetic disease, similar to that of gradually frozen people, but more serious than that of gradually frozen people. Most patients get sick in childhood, the most typical manifestation is that muscle atrophy leads to severe limitation of motor function, and respiratory failure caused by respiratory tract infection is the primary cause of death. Although the pathogenesis of SMA is the same, its clinical manifestations are different.

Type 0: Among SMA patients, the proportion of type 0 patients is very small, but the condition of type 0 patients is the most serious. The patient fell ill after birth and relied on respiratory support. Type I: Type I patients are the most common SMA patients. Most patients get sick within 6 months after birth. If they are not given respiratory and nutritional support, 90% of patients with type I will die before the age of 2. Type 2: Patients with type 2 often get sick within 6- 18 months after birth, and can sit alone but cannot stand or walk. With proper care, they can become adults. The third type: patients usually get sick after 18 months, and can walk at first, but with the passage of time, the situation of limited motor function will become more and more serious, and eventually patients often need to use wheelchairs. Life is basically unaffected. Type 4: Type 4 patients are the least common, and most of them develop after the age of 35. The patient's condition is mild and his motor function is less affected.

Is it SMA? I asked the doctor.

? "It's SMA," the doctor replied, "SMA 3".

Sure enough. After receiving the results, I was calm, not surprised or sad. For more than 20 years, my condition has deteriorated step by step, and I have no hope! I also learned that SMA is incurable at present! There is only one result I am pursuing now. What's wrong with me? It doesn't matter if it can be cured.

Confirmed! I also rest assured! Just pretend to face it calmly! After that, I will pay more attention to this disease and learn more information. Maybe there will be a way in the near future!

Finally, I want to thank my parents and brothers. It is their unconditional support and help that contributed to my "perfect" diagnosis journey. When my eldest brother heard that I was going to the hospital, he always discussed everything with me, helped us book a hotel and plan the route ... "I am your wheelchair!" " "My brother acted as my human wheelchair and little assistant, immediately changed the plane ticket to go home and flew to the city where the hospital was located to join us. In the hospital, my mother struggled for several times and finally found and applied for a wheelchair for me. In this process, I got lost once, and it took me a long time to find us. I admire my mother. She didn't finish the third grade. For my thorough exploration of modern intelligence, my brother pushed my wheelchair and carried me upstairs and downstairs. Especially on the day I went home, I caught the high-speed train and exhausted my mother and brother! High-speed railway station is wide and big. I can't even walk. I put it away at a glance, which is really desperate and envious. Cars come and go, stop and go, strangers who catch the high-speed train go up and down, and only hear the sound of opening and closing the door, which is reflected outside the empty station. It's so lively and harsh! My brother ran back and forth several times to get the ticket. When he entered the station, he took the ladder elevator behind my back to find the carriage ... When he arrived at the station, he got off the bus behind my back and walked many stairs to find a taxi ... He didn't eat that day and he didn't know how tired he was! In the middle, because the carriage we took was in front, it was a long way, and my brother couldn't hold on. My mother ran behind my back for a while in high heels. Although I couldn't get on the carriage, when my brother finally got on the carriage behind my back, my mother was too tired to speak, and she took a long rest before slowly recovering.

Looking at them, I feel lucky and guilty!

I think it's time for me to buy a wheelchair, learn to use it and get used to it. I hope I can go out of the street as cool as other wheelchair partners and surf everywhere in the future! ! !