The only Family photo of Xiaotang’s family was taken one year after they were discharged from the hospital, on their way to the Bund next to them
The rules of our world are set by the majority.
For example, in our society, about 10% of people are left-handed, but the door handles, scissors, subway rolling machines and other household items you can see everywhere are designed for the 90% of people.
If you are not in that minority, you may never be able to understand the pain, trouble and even suffering in the Life of a minority.
And what we’re going to talk about today is the story of a minority disease, or rare disease. What does your life become when you are faced with that less than one in 10,000, the rarest threat in the population?
Fenglei Tang, Fabray disease patient
1 in 40,000
My name is Fenglei Tang, I am 33 years old and was born in a rural family in Jinshan District, Shanghai.
When I was 7 years old, a strange thing happened to me. One day my big toe suddenly and inexplicably became painful, and my Parents took me to the medical office, but they said it was just a child’s shoe that was a little tight, so I didn’t take it seriously.
But after that, I had this pain every year, and it gradually spread from my toes to my fingers and then to my joints, and finally became a frequent, heartburn-like pain.
At that Time, we went to a professional hospital, and all the tests were done, but nothing was found to be abnormal. Probably because my mother also had this experience when she was young, the doctor thought it was nothing serious and just dismissed it as rheumatoid.
It is not common for an 8 or 9 year old to have rheumatism. But what was more unusual was the pain I experienced.
At the beginning of puberty, this torture reached its peak. I couldn’t stand it at all, and the pain was so bad that I had to roll around in bed, chewing on the covers and crying. My father was a tiler and had to climb high during the day and usually worked very hard. In order not to disturb his rest, my mother would knead my hands and feet in the first half of the night, which did not really relieve the pain but distracted me a little.
In the second half of the night, kneading has not worked, my parents thought they could carry people on their backs, so that the hands and feet dangling down, may be better. So they began to take turns carrying me.
When my parents couldn’t carry me, my aunts, uncles and relatives all came to help carry me, and even one of my father’s uncles, who was already very old, carried me.
There was no Medicine to stop the pain, which lasted day and night. While my peers were riding their bicycles in the fields, studying and playing at school, I was left alone in bed, rolling around in pain.
For my family, the disease also bound them. For those 20 years, we were either at the doctor’s or on our way to the doctor’s. My parents gave everything they had to get me out of this pain as soon as possible.
I have a strong impression that one year, we went to Shanghai early to see a doctor. After waiting in line for a day, the doctor could do nothing but tell us to buy some medicine and go back to eat. It was 7:00 or 8:00 p.m. when we got out of the hospital, and we lived in the suburbs, so it would take us two and a half hours to get Home without any problems.
By the time we got to town, there was no bus. So my dad called a dump truck on the side of the road and asked the driver to take the three of us back. The price was 80 yuan. But my father brought 2000 yuan that day all used to buy medicine, only 60 yuan left on his body. Because of the lack of money, there was a standoff.
My father said, my child is very sick, you see our big bag of …… finally the other side only reluctantly accommodated, send us home. I remember our family cried that day, it was really too difficult, too difficult.
This 20 years, has not been able to find the cause of the disease, in fact, many people have suspected.
Some of my classmates thought that I didn’t want to study or go to gym class, so I pretended to be sick. Individual teachers also said that if it was a disease, how could it not be detected? Even the doctor was suspicious of me, and when he saw me crying in pain, he said, “You little kid, are you faking it because you don’t want to go to school? “
My parents got angry and talked back to the doctor, saying.
“My child has been sick since he was 7 years old, I have carried him on my back how many roads, how many hospitals, he has suffered, you have not even seen. Chinese medicine and Western medicine are simply the same as eating, ten fingers and ten toes have to be stuck with needles every day. If he is loaded, these are completely unnecessary. “
My parents had always simply thought that there must be some organ tissue problem in my body and always encouraged me that I would be cured. But I really couldn’t stand it at the time.
I talked to my mother and told her to have another one, and I was definitely wasted. I also had thoughts of dying, but I was fortunate to have chosen to persevere only after my family’s constant care.
At the beginning of 2018, after a week of severe pain, I decided to go to the district people’s hospital to solve the “urgent problem” –In the past two years, because of the increasingly strict regulation of antibiotics in the country, I could not be prescribed medication without an exact cause.
A nephrologist I knew well was on duty that night, and seeing how miserable I was in pain, he admitted me to the hospital. Coincidentally, this director went to Shanghai Ruijin Hospital for academic exchange the next day and happened to hear a topic about Fabray disease. He listened and felt that the symptoms were very similar to what I had been experiencing for so many years: joint pain in my limbs, red allergic spots on my body, no sweating ……
With his help, my mother and I were officially diagnosed with Fabray disease the next day at Ruijin Hospital. The cause of the disease, which had been hidden for 20 years, finally surfaced, and our family was relieved.
Little did we know that when we returned to the People’s Hospital, the doctor told us to be prepared for the fact that the medicine for this disease was not yet available on the domestic market, so it was particularly expensive.
We later learned that an adult would have to use nearly 2 million dollars of medication a year, and take it for life. The astronomical price of the drug once again plunged our family into the abyss. I still had to rely on the old fashioned way of fighting the pain with hormones.
In mid-2018, the side effects of taking hormones for years led to bilateral femoral head necrosis, and my parents raised another $200,000 from friends and relatives to replace my necrotic femoral head.
They say that life is priceless, but the truth before me is that life has a price, and I cannot afford it.
Wang Yifan, family member of a Gaucher disease patient
1 in 200,000
My name is Wang Yifan, I am 35 years old, I live in Xuzhou, Jiangsu Province, and I am a freelancer.
In July 2014, when my daughter Nuo was just over a year old, she was diagnosed with a rare disease called Gaucher’s disease at Peking Union Medical College Hospital.
When my wife went to Beijing to get the diagnosis report, the doctor asked about our family’s financial situation and we told him we were an ordinary rural family. He sighed and said, “Then you probably can’t afford to treat it. “Then he prescribed some supportive medicine for us and told us to go home and eat it first.
Growing up with a child with Gaucher’s disease is a very torturous process. I learned a lot of bad news from my patients, and at any time I would associate it with whether my daughter would do the same. I was afraid to look at my daughter during that time, and when I did, I would get very worried.
At that time, my daughter was very anxious. She seemed to know that she was different from others, she was introverted and had low self-esteem, and she played alone with her phone every day. When we tried to play with her, she always acted very evasive.
Soon after, a patient told me that there was a successful case of Gaucher’s disease cured by cord blood transplant in Beijing, which rekindled my hope.
So we tried everything we could, from borrowing from friends and family to online fundraising and media coverage, and managed to come up with $300,000.
Unfortunately, my daughter had a fungal infection in her lungs that did not meet the criteria for transplantation, so we had to treat the infection first.
So, we stayed in Beijing for half a year. One by one, all the other patients around us were successfully transplanted, but my daughter was the only one who did not improve, so I was very disappointed.
At that time, I lived some distance away from the hospital. Whenever I came home from the hospital, I used to walk and stop and stare at the side of the road. Looking at the pedestrians on the roadside, looking at their children, I felt so unfortunate.
In Beijing, the money was almost spent, and when it came time for the last test, it was still not too good. My wife and I made a very difficult decision not to treat it and go home.
The doctor also talked to me very seriously and said that if you don’t get treatment, your daughter may not live past the age of three. Nono was already over two years old at the time. We were well aware of that, but there was nothing we could do.
I would often wonder why she was born into a family like mine if only she had been born into a wealthy family.
After we were discharged from the hospital, we took Nono around the sights of Beijing. Although she may not understand anything, we wanted our daughter to come into this world and what others can see, she should see too. It was the equivalent of us walking her one last time.
One night in June 2016, Nono suddenly had a stomachache, and I took her to the Beijing Institute of Pediatrics for the extremely risky spleen removal surgery.
Noor was already 3 years old at the time, and I suddenly remembered that judgment of the doctors at Concordia, outside the operating room, as if waiting for an inevitable pronouncement.
Four hours later, my daughter was wheeled out. The surgery went well, and she lay still, her tiny body full of tubes. I was overwhelmed with emotion, knowing that my daughter had bravely passed another hurdle.
It was at that time that I made up my mind that no matter how much I had to give, I was going to get my daughter back to health.
After leaving Beijing, the family spent New Year’s Eve in the hospital after being hospitalized with pneumonia.
There is only one drug treatment for Ghoshie disease in China, which is injectable, and its dosage is increased according to the patient’s weight gain. My daughter’s body was already thin because her stomach was so big and she had trouble eating – she was only 15 kilograms at the time – but at that weight, the medical costs would have been nearly 1 million yuan a year.
Because my child is a special child, I will be a special parent myself.
I won’t encourage my child to eat more like other parents do, because every kilogram of weight costs tens of thousands of dollars more per year. So we don’t dare to expect our child to grow taller and fatter, like other parents do. Because if she grows slower, she can live longer.
Before my daughter was diagnosed with Gaucher’s disease, I was a very thoughtful person, I wanted to make money, I wanted to start a business.
After my daughter was diagnosed with Gaucher’s disease, slowly a year or two went by and I felt that all my ambitions were slowly disappearing with her condition. I was so immersed in how to treat my child that I wondered if this was the end of my life. I knew that no one could help me, I had to carry it myself.
But no matter what, I must save it, because it is my child.
Zhang Nan, a patient with hereditary angioedema
1 in 50,000 people
My name is Zhang Nan, I was born in 1963 and I am a university teacher. It took me 30 years to be diagnosed with hereditary angioedema (HAE).
Since the age of 18, my body has suffered from inexplicable edema and severe abdominal pain. No doctor, no matter how brilliant, could do anything about my symptoms. Over the past 30 years, I have been diagnosed with numerous diseases and suspected of having problems in almost every organ.
One incident that sticks in my mind is when I went to the emergency room in the middle of the night because of a sudden onset of abdominal pain. The emergency doctor diagnosed me with acute pancreatitis and I was immediately hospitalized for gastric tube insertion and drainage.
When I pulled out of the tube the next day, I vomited a mouthful of black blood, indicating that my larynx had been ruptured, which is actually very serious because HAE patients with edema in the larynx can die of asphyxiation in severe cases.
As a result, I was transferred to a provincial tertiary hospital the next day, and the gastroenterologist diagnosed that I did not have pancreatitis.
There were countless examples like this, and I tried all kinds of advanced methods to find out what was going on with my body.
In 2004, I had a “capsule gastroscopy” at a very famous tertiary hospital in Shanghai. This was the most advanced technology at that time, and a small robot was swallowed into the stomach. I was the 300th person in the country to have this test, and it cost 9,600 yuan out of pocket.
The result was that it went around the digestive tract and still didn’t find anything wrong.
Sometimes I thought, “I would be happy if I could find cancer, if only I could find something. It was like walking in a very dark tunnel without a single light in front of you, and you didn’t know where to go.
In 2011, by chance, my family in the United States read a medical article about a rare disease that was very similar to mine.
The literature mentioned Prof. Zhang Hongyu of Peking Union Medical College Hospital, who diagnosed the first case of hereditary angioedema in China in 1980. His student, Professor Zhi Yuxiang, took over his mantle.
By 2021, exactly 40 years later, they had diagnosed only 500 patients with HAE, far fewer than the actual population of about 20,000.
Thirty years was a long time, but I was lucky to have the financial means to stay active.
But when I think about it, it took me 30 years of my life, my best years in hospitals and hospital beds, before I finally reached the exit of the tunnel and saw a ray of light, so how could I be considered lucky?
Later, I found out that there were few patients like me who were suddenly “favored” by Lady Luck and got diagnosed. The average diagnosis time for this disease is 7 years, and how many people are diagnosed after numerous misdiagnoses because of a chance remark by a doctor or because they meet someone who knows the cause of the disease.
So after I was diagnosed, my thought was, if I could get other people diagnosed a day earlier, even an hour earlier, I could get them to see the light sooner.
So in 2017, I and a few other patients set up the first HAE patient organization in China, “Rainbows”. We have been educating physician groups and ordinary people on various platforms about HAE, a rare disease and how it is diagnosed.
My partners and I want to work together to promote awareness of rare diseases in society, because once you have experienced what it is like to be alone in the dark, you will have a strong desire to stop letting others follow my path.
It is precisely because they are a minority that the rare disease community has become more closely knitted together in the darkness of the night.
With the help of his patient group, Tang Fenglei has temporarily relieved the pain of his disease through painkillers, and he is still going to work and falling in love normally, tasting the joys and sorrows that a person should have besides pain.
In 2017, Wang Yifan also joined the Gaucher’s Disease Charity Organization, and thanks to the joint efforts of him and his fellow patients, some domestic provinces and municipalities have included special drugs for the treatment of Gaucher’s disease in their medical insurance. His daughter, Nono, is 8 years old this year, and the family welcomed a new baby in 2018, and things are slowly getting better.
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