I am 29 years old and 2 years after the diagnosis of hereditary transthyrin amyloidosis. The name was so long that I often couldn't remember it myself.
I was lucky to discover the family heirloom rare disease gene
This disease was passed on to me by my father. In my father's generation, only my father and uncle were sick, and they all started around the age of 40. Both of them died in 2012 and 2013, and their symptoms were very similar, both manifested by diarrhea, weakness in both legs, and foot edema. However, at that time, the medical level was limited, so the father and uncle were ultimately not diagnosed, and only diagnosed as single organ diseases, such as double kidney failure and hypertrophic cardiomyopathy, respectively.
In 2018, my cousin began to have the same symptoms as the two elders: vomiting, diarrhea, puffiness in his legs and feet... Only then did we suspect the head of genetic disease. Under the advice of experts in a shanghai hospital, the cousin drew blood, checked genes and was finally diagnosed in 2019, which turned out to be a rare disease that was autosomal dominant.
This is the first time I've heard the name hereditary transthyroxine protein amyloidosis. I went to the Internet to check it, and I could find very few documents. I learned that this is a complex disease that can affect organs throughout the body. This also explains why the father and uncle got different diagnoses in the first place. The literature also tells me that this disease affects the eyes.
It turned out that I had been sick long before my cousin. In 2017, I had vitreous turbidity, and I always felt that there were mosquitoes flying in front of my left eye, and slowly there were more and more "flying mosquitoes", and the black pressure was pressed. My vision dropped dramatically, and at its worst I couldn't see the doctor's finger-to-finger numbers, and I did a vitrectomy to restore my vision. The good news is that some case data show that individual families have a condition where the onset of the disease only affects the eyes.
After my cousin was diagnosed, I also did a genetic test with a worried mood, and as expected, there was a pathogenic mutation. But to be honest, the moment I got the report, I didn't have much of a ripple in my heart. Maybe at that time, I thought I could be a fluke, not realizing the seriousness of the disease, and not yet showing serious symptoms. Since then, I have commuted to work as usual and my life has been colorful.
Genetic test results | Courtesy of the author
However, Heaven did not leave me good luck after all.
After being broken up after the onset of illness, I lost 10 pounds a week
In early 2020, I started to have abnormalities in other parts of my body, and my toes appeared numb. After going to the hospital for a check-up, the doctor combined my ELECTROG report and genetic test results to write "Hereditary transthyroxin protein amyloidosis peripheral neuropathy?" in the diagnosis column. ”。 At that moment, I felt the world spinning and almost fainted- I was sick. At that time, I had a boyfriend who had been talking for half a year. Just the next day, he mentioned breaking up.
Without giving me any buffer time, the ex chose to leave during my most difficult time. At that time, my mother tried her best to keep him: "She (I) is sick, this time must be difficult, can you not stay with her for a while." 」 But he ignored the responsibility and responsibility that a man should have, and categorically refused.
In the midst of great grief, I developed another symptom almost overnight— diarrhea and tenesmus alternating. Diarrhea is fine, it is not a big deal to run a few times to the toilet; after the tenesmus, it is uncomfortable, and I want to go to the tuba all day, but I can't go to the toilet and Squat and can't excrete it, and the drug-assisted excretion is useless. At that time, I was in work, so tortured that I couldn't calm down for a moment to work. Anxiety and grief made me lose sleep all night. At the end of the week, I lost 10 pounds.
I offered to resign, and during the few days of the handover, my colleagues asked me if I had travel plans and whether I had jumped ship to a good unit. I smiled and replied that I was too tired from work and went home to rest for a while. On the surface, talking and laughing is nothing, but in the heart, it has already turned the river and the sea.
I can't move in a wheelchair, is this my future?
I returned the rented house, packed my luggage and sent it back to my hometown, and dragged my suitcase to Beijing alone. I happened to contact an authoritative doctor in Beijing, who suggested that I go over and do a comprehensive examination and register it in the case database so that I could get medical help later.
A man | in the beijing hospital clinic Courtesy of the author
At that time, the epidemic situation in Beijing was still relatively serious, and family members were not allowed to accompany the hospitalization examination, and there were only patients in the ward. I became the youngest "little flower" in the ward, and I was bouncing in the corridor, and several elders said in front of me: "This girl, it is the sun at 8 o'clock in the morning." ”
I smiled bitterly.
I also became someone they liked to observe. Whenever I spoke to my mother on the phone in a Sichuan dialect, they listened with their ears open, and when I hung up, a few people carefully pondered the content of what I was saying.
My mother worked in her hometown in the county, and she did not approve of me going to Beijing for examination, just as she did not approve of my genetic examination. She said that if there is no disease, live well, and then say that the disease will be said later; she said that the examination is useless, and where the disease appears, it will be cured. I couldn't persuade her, I couldn't make her listen to the principle of "early diagnosis, early intervention".
In the ward, I met the first patient besides my family to suffer from the same disease, an uncle. The uncle had been ill for six or seven years, and only this year was diagnosed, he was paralyzed from the neck down, unable to move, and already in a wheelchair. When he was pushed by his wife to come to me, he almost cried and said, "Girl, I have the same illness as you." ”
I froze, not knowing what to say. How should I comfort him? Or how should I comfort myself? Will I be like this in 6 years? In a wheelchair and unable to move? So how do I survive?
I, I, may really not survive...
The torrent of mourning came rushing in, and I fell into it, unable to extricate myself.
The diagnosis was officially confirmed, but the cost of medicine was 50,000 yuan in January
Seven seven eight eight checks were done in a bunch, and with those test results, I couldn't believe my eyes. I'm obviously fine, but why is it all bad all of a sudden? Renal insufficiency, cardiac insufficiency...
I looked in the mirror and knew that I was still a flesh-and-blood young man! Why? Why me? Half a month ago, I was still fantasizing about my wedding and making travel plans, and now it's all gone.
The final test is a biopsy, which takes the calf muscles and a small sample of nerves. The surgery wasn't big, but I cried out loud. Alone in a different place, the doctor cut a hole in my calf and rummaged through my gastrointestinal nerve. While crying, I made up my mind: Lao Tzu will never come to the hospital again!
Biopsy site | Courtesy of the author
On the 3rd day of the biopsy, my calves were still wrapped in gauze, and I limped back to my hometown in Chongqing.
A few days later, I received the biopsy results from the hospital and was officially diagnosed. Doctors gave treatment advice: there is currently no drug that can cure, but the drug that delays the development of the disease, glucose clobenzazolate, has been listed, 50,000 yuan a box, a box to eat for a month, if you do not eat, take other symptomatic treatment drugs.
I don't have a choice, I can't afford this medicine.
I was hospitalized several times in half a year, and I lost 60 pounds
The condition developed rapidly, and after returning to my hometown, I became a regular visitor to the hospital.
In mid-2020, the vitreous opacity in my right eye worsened, and I had to go for a second vitrectomy. Fortunately, everything went well and I was discharged from the hospital in 3 days.
At the end of 2020, I found a new job, but after just two days on the job, my feet were so puffy that I ended up resigning.
At the beginning of 2021, when I went to the toilet, I found that the color of the urine was not right, just like my aunt, I found out that it was pyelonephritis, and I stayed in the hospital for 3 times before I was cured. That year Chinese New Year's Eve I was still living alone in the hospital. I pestered the doctor to ask for leave, saying that I wanted to go home for new year's eve, and the doctor approved it and told me to go back immediately if I was uncomfortable. On the first day of junior high school, I obediently went back to the hospital to stay.
From February to May 2021, I was hospitalized repeatedly because of uncontrollable vomiting, rapid heartbeat, headache, and successively lived in gastroenterology, nephrology, cardiovascular medicine, rheumatology and immunology, hematology... One night in March, I had a cracking headache and repeated vomiting. My mom rushed me to the emergency room, and after all the tests were done, I was transferred to the intensive care unit. I was groggy and didn't know what was going on, and my heartbeat kept going up and down 130 beats/min, often soaring to 160 beats/min. I don't know how my mother, who received a critical illness notice outside the ward at that time, would feel.
Notice of Critical Illness | Courtesy of the author
It was the hardest time I had. As soon as I ate, I vomited, I didn't eat much for 3 months, all relying on my mother to stew all kinds of soup spoon by spoon for me to pour down, but most of them would still be spit out, and I lost 60 pounds at one point. Without eating, the doctor could only give me a nutritional solution, which was as large as a handbag, and it would take more than 10 hours to complete the infusion.
My mood became unusually grumpy. I'll cry and make noise, I'll make the nurse pull out the infusion needle, I'll yell, I'll pound the bed...
For a long time, I couldn't afford to be sick.
I threw up every 10 minutes or so, my stomach was burning and tingling, and the pain made me have no attachment to the "birth" thing at all. Looking out the window, I had countless impulses to climb over and jump down to end the pain.
My mom sat next to me. I cried and said I really couldn't live, I couldn't survive a minute or a second. She also turned her back and cried.
I feel the most sorry for my mother, and I have to live well for her
After my illness worsened in February last year, my mother quit her job to take care of me.
We stayed in the old house in the wet market, on the sixth floor. During the time when I wasn't eating, I didn't have the strength to walk, and I just wanted to squat when I stood. Every time she went to the hospital, she carried me on her back, from the door to the side of the road at the mouth of the market, and she had to rest five or six times along the way. After putting me on the side of the road, she called for another car and helped me into the car. After getting out of the car, she carried me back to the hospital chair and sat down, and she went to check in.
A drawer full of medicine | Courtesy of the author
My feet were numb, my eyes were bad, my stomach was not good, and she went around asking me about the hospital doctor, taking care of me and accompanying me in every way she could think of. I lay in bed for two months, and she encouraged me over and over again to get up and walk, to accompany me in small steps to climb the stairs.
In this life, I feel the most sorry for her. She had no father when she was married, no husband in middle age, my grandmother had died two years ago, and she didn't even have a mother. Now, even my only daughter cannot be relied upon by her. She had worked hard all her life to take care of her sick father and provide for me to go to college; now and in the future, she would have to take care of me again.
She was my only concern. It's the only motivation for me to "live well".
Therapeutic drugs are medicated!
Luckily, in December 2021, there was good news!
Someone in the patient group sent a message that the treatment drug clobenzozolic acid is included in medical insurance! The whole crowd instantly boiled over and cheered! Although the patients are thousands of miles away, they can feel that everyone is in tears.
Sure enough, there is hope in being alive. A small group of us is also paying attention.
I'll try to live another 50 years, look!
Doctor reviews
Chu Xujun 丨 Resident physician, Department of Neurology, Peking University First Hospital
Meng Lingchao丨Depubent Chief Physician, Department of Neurology, Peking University First Hospital (Review)
Hereditary transthyretin familial amyloidosis (ATTRv amyloidosis) is a rare disease caused by pathogenic variations in the TTR gene encoding transthyroxine protein, which is autosomal dominant. It is estimated that the number of people affected worldwide is 5,000 to 10,000, and different countries vary greatly, with Portugal, Brazil, Sweden, and Japan being the high incidence areas. The disease involves multiple systems at the same time, the disease progresses slowly, the individual differences are large, and the disease can be onset from 17 to 80 years old.
Hereditary transthyroxin protein amyloidosis is most common in chronic sensorimotor neuropathy, autonomic neuropathy, and heart damage, and the specific symptoms can be manifested as distal limb pain, numbness, weakness, dizziness after standing up, rapid heartbeat, rapid weight loss, etc.; at the same time, it can affect the eyes, kidneys, and central nervous system, and the vitreous turbidity, blurred vision, proteinuria, etc. described in the patients in the text; a small number of patients can also have tongue hypertrophy, paroxysmal dry cough, etc.
The diagnostic criteria for the disease are as follows: clinical presence of the above-mentioned multisystem damage, with or without a family history; pathological examination finding amyloid deposition in tissues confirmed to be transthyroxin deposition, or genetic examination finding disease-causing variants of the TTR gene; and other diseases excluded. Patients are advised to follow up regularly at an experienced care center after diagnosis to observe changes in their condition.
Current drugs targeting the disease mainly include transthyroxine protein stabilizers and gene silencing drugs. Transthyroxine protein stabilizers include clobenzazolic acid and diflunisal, and gene-silencing drugs include patisiran and inotersen. At present, chlorobenzolic acid has been approved by the State Drug Administration for the treatment of transthyroxine amyloidosis polyneuropathy and cardiomyopathy.
Liver transplantation is the classic treatment option for ATTRv, and patients with surgical indications can choose a liver transplant. Pacemaker implantation may be done when the patient's cardiac conduction abnormalities meet the indications for pacemaker implantation. In patients with severe vitreous opacity, vitrectomy may be considered. In addition, patients with neuropathic pain can be relieved by oral gabapentin and pregabalin. Postural hypotension due to autonomic neuropathy, non-pharmacological therapy may be used in mild to moderate patients, increased water and salt intake, compression stockings, and moderate to severe patients may be treated with medications to improve symptoms. Patients with gastrointestinal dysfunction and malnutrition should pay attention to symptomatic treatment and nutritional support to avoid dehydration and electrolyte disorders.
It is encouraging that in recent years, the mainland has invested heavily in rare diseases, more and more rare disease drugs have been included in medical insurance, and the treatment drug for hereditary transthyrin protein amyloidosis, chlorbazolic acid, was officially included in medical insurance on January 1, 2022, bringing hope for patients to live.
Today is the last day of February and the fifteenth International Day for Rare Diseases.
According to the Definition of the World Health Organization, the prevalence of rare diseases ranges from 0.65 to 1‰, which means that there are 6 to 10 rare disease patients per 10,000 people in the world. 80% of rare diseases are caused by genetic factors, and the condition is chronic and severe, which can be life-threatening.
Diagnosis of rare diseases is often tortuous, treatment costs are high, and treatment options are limited. Faced with heavy financial and psychological burdens, the standard of living of patients and their families is often low.
The good news is that with the establishment of the National Rare Disease Diagnosis and Treatment Collaboration Network and the promotion of drug protection for rare disease patients, the problems of difficult diagnosis and expensive treatment have begun to improve. However, the problem of rare diseases still needs more people's attention and efforts.
The theme of this year's Rare Disease Day is "Share the Color of Your Life", thank you for reading this, sharing and participating in the world of rare disease patients with us.
Sharing personal experience does not constitute a diagnosis and treatment recommendation, can not replace the doctor's individual judgment of a specific patient, if you need to go to a regular hospital.
Author: Little Sheep
Editing: Su Mu Zi Body, Li Xiao Ball