What I want to talk about today is not a piece of news.
On May 21 this year, Wang Renfei, a 25-year-old patient with a rare disease, died of cardiomyopathy due to Becker muscular dystrophy (BMD).
He ran a small model shop in Xianyu during his lifetime.
Wang Renfei’s Xianyu shop, now my mother is running it
Click in, the store is still there, and the owner is his mother:
My son passed away due to illness on May 21. According to my son’s last wish, both the body and cornea have been donated, and a corneal matching operation has been completed successfully. The remains are stored in Yantai Campus of Shandong Binzhou Medical College, I wish him all the best.
My son has a rare disease and is genetically defective, and he has sought medical advice from all over the country since he was 5 years old.
If an order is not shipped please contact me for a full refund.
There are also some things that my son prints out. Fortunately, his friend taught me and his brother to print, and we have basically mastered it.
In the past, most of the things my son put on the shelves can be printed, most of them are shoes, as well as small accessories such as headphones and fans, boxing gloves, pistols, etc. If you need anything, you can privately chat with me, 5 pieces of free shipping .
I have saved 50,000 gift money from my relatives and friends as a fund. I plan to use 3,500 yuan of interest per year to help some children from families with some difficulties on their way to school, mainly for elementary school, junior high school, and high school students. There are not many, and the ability is limited. I plan to put a dollar into the fund every time I sell one piece, hoping that the small amount will add up and the sand will become a tower.
This is my son’s first cat, Simba, when she was little, she was clingy and I will love her.
corneal donation certificate
This was the last certificate my son earned.
This is a flower brought by the model group leader in Linyi, thanking them for helping organize my son’s things.
Big boy will tell you about this disease first.
Muscular dystrophies are a group of diseases.
The most common are what we call Duchenne Muscular Dystrophy and Belle Muscular Dystrophy.
Manifestations of different types of muscular dystrophy
For our muscles to function properly, we need genes to express a component called dystrophin. When the gene is mutated, the fibers of our muscles are degenerated, and our muscles are useless.
You may think that muscles are only for exercise, but there is a group of muscles responsible for breathing, responsible for the beating of the heart, they can not work, and the countdown to life begins.
IThe first exposure to Duchenne muscular dystrophy was about 8 years ago. At that time, it was a mother, she was a carrier, and his child inherited the gene from the mother.
Because this is an X-linked recessive inheritance, it is possible that the mother does not have it and the child has it, and the symptoms of different people can vary greatly.
At that time, the child was not very old, and it was not particularly serious. He just couldn’t get up from squatting down. When the muscle enzyme was very high, he was suspicious at the time. Later, other tests were done to confirm the diagnosis.
It’s time to explain to the parents: the condition will definitely get worse. Most children lose the ability to walk independently around the age of 12, and then it will get worse.
All will end up on a ventilator. From the beginning, I only use it at night when I sleep, to the last night plus occasional use during the day, and finally to use it all day, from the beginning to the last 5 to 10 years. Generally speaking, in the end, many people died because of respiratory insufficiency, unable to breathe. If it is Duchenne muscular dystrophy, there are not many people who live more than 30 years old.
The owner of this model shop has Belle Muscular Dystrophy. Generally speaking, these will be relatively mild, and their skeletal muscles will be less affected by these skeletal muscles, so , can make models. And usually they can live to be more than 30 years old, and the average age of foreign research is 45 years old. But the scary thing is that the incidence of dilated cardiomyopathy will be very high, including the children in this story, and finally died of this reason.
You may ask, isn’t there a lot of gene therapy in new drug research now? In 2020, I organized a rare disease consultation. There are many parents in the group talking about gene therapy. Everyone will also say how far this has progressed, and how far it has progressed. Parents will actually be very concerned about these things. However, at present, there is no clear result on muscular dystrophy.
Daddy, let me tell you about the popular science, gene therapy does not mean that the disease is completely cured.
The eldest boy took the opportunity to tell everyone how turbulent the term gene therapy really is. Many clinical studies are the development of 10,000 kinds of drugs or treatment programs, and tens of billions of dollars have been invested, and the last splash has not been stirred up.
Research and development of 10,000 kinds, only one can be used, which is lucky enough
Many times, patients ask ourselves how their children are doing.
In fact, there is a very sad saying that we cannot guarantee individuals.
At this time, many patients and their families are in despair. Because they really don’t know when death will come. Dilated cardiomyopathy can induce sudden death, and death comes silently.
In fact, many patients require psychosocial therapy. For example, at each visit, the doctor will even assess a mental health condition of the patient or his family. Too many patients experience anxiety and depression, many patients are very negative in treatment, parents are active, but the children themselves are hopeless, and may even despise their own lives. At this time, it is necessary to find a way to relieve it in time.
And I want to ask you a question, should we tell these muscular dystrophy patients about their long-term prognosis?
Of course, if he is very early or very light now, it may not be suitable, especially for small children, we have no way to tell a 5-year-old child something very unhappy, but It is often discussed with his family or caregivers. I have shared this with you in the past, including the choice of treatment options, and even palliative care, which is what we often call palliative care.
We know that the disease is developing, what should we do at this point? What kind of problems should we pay attention to when we go to the next node? We have to make very important therapeutic decisions, including the decision not to treat, what should we do at this time? What to do when your health is declining? What to do in the event of a life-threatening event? How to deal with end-of-life treatment?
For example, there is a very important treatment decision right now. The child has entered the stage where he cannot walk alone and cannot take care of himself. The family has to make arrangements. Who will take care of the child? Poor breathing? There are second-hand non-invasive ventilators in the group, should you buy them?
I have entered the dying stage, how do I arrange it?
And so on.
This is a completely new field for everyone. This is the story of a group of elders going to bid farewell to the younger generation. Some parents dream about bad things every day, and some parents are afraid to go out or go home.
And so on.
It’s so sad to say.
At the end of the video, we say something touching.
The owner’s mother said she left a few models made by her children as a souvenir.
Among them is a cyberpunk 2077 peripheral – RELIC chip, which she likes the most, and only his son is doing it on the entire network, the only one.
According to the game settings in 2077, the purpose of the RELIC chip is to transfer personality and make human beings a digital imprint. Even if they pass away, their relatives can communicate with them through the chip.
This is the love and care that the shopkeeper left behind.
Xianyu shop is very warm.
One of the netizens said, Auntie. I came here from Weibo, and you have to continue to work hard in the future.
I’m hereI just want to remind you that your 50,000 interest is 3,500, which is almost 7%. There may be risks. You should pay attention to it, and find a friend who knows a little bit for advice. Come on.
Some people say come on, Auntie, what you are dreaming is a great and fragile dream, I hope to entrust you with a grief, but Auntie also asks you to do what you can, be sure to Read the tutorial carefully, take protective measures, try to read the terms of the transaction clearly when trading, and be vigilant about large orders. Be vigilant. There are many bad people in this world, but very few good people.
Protect yourself well so that you can continue your child’s dream. I wish you good health and all the best.
In 2022, a rare disease patient in Linyi, Shandong that we did not know left. He left his mother a thought and left us a dream that needs to be guarded.