Fate has given me many hardships, but I repay them with songs.
Hi, everyone! My name is Xuanang. Do you know the idiom (meaning "arrogant and imposing")? My name comes from this, and it carries my parents' expectations and wishes for me. In the summer of 2002, I was born in an ordinary working-class family in Xiangyang, Hubei. I had a warm and happy home. I can say that I lived a carefree and happy life before I was 12 years old. Although I found that my transaminase was very high when I was 10 years old, I did not feel any discomfort. I also went to various major hospitals to find the cause, but to no avail. At that time, I loved playing table tennis very much. I remember that in the summer vacation when I graduated from elementary school, in addition to traveling, I spent day and night in the gymnasium.
Thinking about it now, perhaps it was the excessive exercise that year that caused me to get sick. In the first semester of junior high school, I started to fall while running. I fell every time I ran. At that time, I thought it was due to lack of exercise. Later, I applied to the teacher to stop running after falling too much. In the second half of the first year of junior high school, my walking posture became weird. My mother asked me, and I told her that it was because of my habit of practicing table tennis every day. I never dreamed that it would be scoliosis caused by Pompe disease, which led to a weird walking posture. It was not until the early summer of that year that my mother found a big bulge on my lumbar spine. She felt something was wrong, so she took me to the local hospital for examination. The result was scoliosis. The doctor recommended that I go to a large hospital in Beijing, Shanghai and Guangzhou for treatment. So in the summer of the same year, we went to Beijing. After several twists and turns, I was finally diagnosed in the pediatrics department of Peking University First Hospital - a rare disease - glycogen accumulation type 2 (Pompe disease).
That was the first time our family heard the word "rare disease". Although it was unfamiliar, we were still happy in our hearts. At least we figured out the reason why our transaminase level had been high for several years. But the doctor's words afterwards made us feel so happy that we didn't have time to wait. The words "a bolt from the blue" and "like a thunderbolt" were not enough to describe our mood at that time. The doctor told us that there was no cure for this disease in China, and the cost of medicine abroad was extremely expensive. An adult needed to take medicine for life, and the annual cost was about three million... Although I was only 13 years old at the time, I knew what three million meant. Let alone taking medicine for life, even if it was just once, my family couldn't afford it. My mood was like a roller coaster, but at this moment I fell into the abyss, and I couldn't see any light. My world was instantly dark. Fortunately, the doctor's words later made me see a ray of light. She told me that if I studied hard, I could go abroad to work and live in the future, and maybe my problem could be solved. After that, I started to study as hard as I could, not for anything else, just to save myself! But things did not go as I wished. When I was 15 years old, there was still half a year before the high school entrance examination. My physical condition deteriorated rapidly. Scoliosis had seriously affected my breathing. I couldn't even walk 500 meters. I needed my family to pick me up and drop me off at school. On the one hand, I wanted to study, and on the other hand, I wanted to take care of my health. I didn't want to give up either side. So I took advantage of the winter vacation of the third year of junior high school (January 2017) to go to Beijing for scoliosis surgery. I thought that after a month of rest, I could continue to go to school after the new year. Who knew that after the nine-hour operation, I couldn't even take care of myself, so I had to choose to take a leave of absence. To be honest, after the operation, my breathing improved greatly, and I no longer felt breathless. I thought that this operation would more or less restore me to normal. Of course, looking back now, the year after the operation was also the best year since I got sick. After entering high school in 2018, my studies gradually became more intense. I started to fall when I walked because of sitting for a long time and the progression of my illness. I fell several times when I was going up and down the stairs at school and when I got off the bus... Falling again and again was breaking me down again and again. Finally, after another fall, I completely collapsed. At school, I called my mother and told her that I didn't want to go to school anymore. I didn't know what I was living for. It happened that my parents went to the Provincial Medical Insurance Bureau for my affairs that day, but things didn't go so smoothly. That night, they rushed back from Wuhan and took me home from school. That was the first time I cried in front of them. Fortunately, after venting, my emotions calmed down a lot the next morning. What else could I do if I didn't study? I got up silently and went to school again. What I didn't expect was that since then, my parents have tried every means to raise money for my medicine.
With everyone's help, I finally used enzyme replacement in January 2020. However, the high price is like a few mountains pressing on our whole family. Whether my insufficient treatment can continue is a problem. We put our hopes on the annual national negotiations, hoping that the drug can be included in the national basic medical insurance catalog through negotiations to solve the actual drug use problems of our Pompe disease patients. Year after year of expectation, year after year of disappointment. At the end of 2021, when I heard relevant personnel at the rare disease conference say that in order to enter the national basic medical insurance catalog, the annual treatment cost must be reduced to less than 300,000, I no longer had any hope for the future, and I didn't want to see my parents running around for me. For me, the family is already heavily in debt. I am ready to give up. I even signed an organ donation agreement online. At that time, I thought that even if I couldn't save other people's lives, even if it was used for medical research on Pompe disease, I would have done my part for this group. I told my mother about my decision. She didn't stop me from signing the agreement, but she didn't give up on me as I wished. She told me that although enzyme replacement is expensive, new treatments have been developed. The gene drugs independently developed by GeneCradle Technology Co., Ltd. in China have completed animal experiments. The drugs have been developed and placed in the refrigerator, waiting for clinical trials. At that time, I didn't believe her at all, because I knew that over the years, she had been using various methods to obtain information about Pompe disease and encouraged me. It is true that the country's policies are getting better and better, and there is more and more attention paid to rare diseases. However, the price of Pompe disease drugs is really high. Our small group is the one that is ignored. I no longer have any hope, so I just let it go.
However, what I didn't expect was that she actually took me to GeneCradle for verification. At GeneCradle, I was fortunate to meet a group of excellent and loving researchers such as Teacher Wu and Teacher Zhu. It was their patient and meticulous explanation that made me understand that the gene drug has been developed and confirmed, and it also made me full of expectations for the future. After leaving GeneCradle, I still felt like I was dreaming. I didn't expect that I could meet them so smoothly. I didn't expect that they were such a group of researchers with great love, caring for patients and focusing on patients' needs. I didn't expect that we would have an indissoluble bond from then on: we communicated and discussed the rehabilitation, diet and exercise of Pompe disease together. Since returning from Beijing, my friends around me said that I seemed to have become a different person. I began to smile and was willing to communicate with others. Only I know that it was because I regained confidence in life and had expectations for the future. Under their influence, my mother also started doing charity work with the help of the Beijing Yicheng Foundation in March 2022, and set up a patient-centered Pompe disease gene research special collaboration group, linking hospitals, doctors, scientific research institutions, enterprises, governments, etc., calling on more experts and scholars from scientific research institutions, hospitals, universities, enterprises, governments and clinical teams to join the research on Pompe disease, calling on everyone to participate, use the power of science and technology to promote the development of domestic gene drugs, and promote gene drugs from basic research to clinical trials and application. From the clinical trial of the first infantile Pompe disease patient in September 2022 to now, I know that every step of the clinical trial is not easy, but I am very excited and excited to see the good results achieved by the little patients after clinical trials. As a patient with late-onset Pompe disease, like everyone else, I look forward to the early start of the late-onset clinical trial and the early listing of drugs, so that every patient can be cured at one time!
Today, I am full of confidence in the future. I seem to see a bright future waving at me. With the unremitting efforts of my parents, I continue to take insufficient enzyme replacement therapy, and at the same time, I also take acupuncture treatment of traditional Chinese medicine, and cooperate with daily exercise. I firmly believe that I can welcome the arrival of gene therapy in the best condition. I am even more looking forward to taking my parents on a trip after gene therapy! Over the years, they have given so much for me. I am always glad that I was born in such a family. Thanks to my parents' persistence, I have what I have today. Dad, Mom, I love you! Thank you for everything you have done for me!