An ordinary person with only a high school education took a risk, taught himself and made “drugs” just to keep his son alive with a rare disease.
This story sounds like a movie, but it actually happened in Yunnan, China.
“Brother, brother, why are you not well?”
Xu Wei’s son, Xiao Haoyang, suffers from Menkes Syndrome.
This is a rare disease. A rare congenital copper deficiency disorder caused by a defect in the ATP7A gene that normally encodes the copper-transporting ATPase. Menkes is inherited in an X-linked recessive manner and is more common in boys.
A typical child with Menkes disease appears normal at birth. But over time, due to the body’s inability to absorb copper ions, it cannot develop properly. Severe neurological degeneration begins in more than 2-4 months, and few children live beyond the age of 3.
On June 6, 2019, Xu Wei welcomed his second child, a boy of 48 cm and 5.2 catties. At birth, Xiao Haoyang looked no different from other ordinary babies, except for his curly hair and slightly fair skin.
Unexpectedly, at the age of 6 months, Xiao Haoyang’s growth trajectory obviously lags behind the standard of the same age. All can only lie in bed.
No one had initially considered such a rare Menkes syndrome, and Xiao Haoyang was only identified as stunted. Until 3 months later, the genetic test report showed “ATP7A gene defect, Menkes syndrome”. This diagnosis gave Xu Wei “a blow to the head”.
“Before the diagnosis, the doctor told me to mentally prepare myself and check the disease online. I found that the mortality rate of Menkes children before the age of three was close to 100%, and I was blinded at that time.”
Photo source: Xiao Haoyang’s father Weibo
Xiao Haoyang is the first case of Menkes syndrome in Yunnan.
The best time to inject copper ion supplements for Menkes children is within 7 days after birth. Xiao Haoyang missed the best time for treatment, and the first doctor was helpless. “I asked the doctor how to treat it. The doctor said that we can only go home and wait. If the child has any symptoms, we will treat it symptomatically.”
“I don’t believe” is the first reaction of many parents of children with rare diseases. Xu Wei went to find better hospitals and doctors in an attempt to overturn the previous diagnosis.
However, reality once again “severely injured” Xu Wei. Pediatricians at the PLA General Hospital in Beijing made the same diagnosis and tried to treat Xiao Haoyang with cocktail therapy, but it didn’t work.
Xiao Haoyang, who is more than 2 years old now, can only lie down most of the time, drooling constantly, the muscles all over his body have atrophied to varying degrees, and the skin surface has obvious rough and granular feeling , accompanied by complications caused by poor urination.
Xu Wei’s daughter and Xiao Haoyang’s sister is only 5 years old, but she is sensible beyond her peers. She sometimes helps her brother stretch his arms and legs, and asks, “When will my brother be well?”
When will Xiao Haoyang recover? No one can answer this question, but Xu Wei, as a father, believes that through his own efforts, he can wait until this day.
“The greatest difficulty is loneliness”
“Rare diseases are like stars in the sky. There are not many visible to the naked eye, but they are actually all over the sky.” Even if they are called “rare”, they have been discovered around the world. There are 7,000 to 8,000 types of rare diseases in China, and about 350 million people suffer from rare diseases.
Rare disease patients are not uncommon, and medical staff engaged in rare disease research and diagnosis are rare. Cheng Nansheng, vice president of West China Hospital of Sichuan University, once said at the “Ninth China Rare Disease Summit Forum”, “In my country, and even in the world, medical staff engaged in the diagnosis and treatment of rare diseases are rarer than patients with rare diseases.”
High drug prices are also a major dilemma for “orphan diseases.” For example, before entering medical insurance, the price of the treatment drug for spinal muscular atrophy (SMA), one of the rare diseases, was as high as “700,000 yuan per injection”, which made many patients discouraged from “high-priced drugs”.
There are few consumer groups, a large investment of time, capital and personnel, and a low success rate. Many pharmaceutical companies are reluctant to produce drugs for the treatment of rare diseases. Even if it is willing to produce, the benefit can only be guaranteed by raising the price of the drug.
Like all rare diseases, Menkes’ children face challenges.
Globally, there is no cure for Menkes syndrome. Supplementation with copper histidine, commonly used as a symptomatic treatment for Menkes. In fact, copper histidine can only have a relieving effect, not a cure. But for children, this is the only hope of prolonging life.
The current situation is even more unsatisfactory. At present, there is no copper histidine drug on the market in China. Fortunately, copper histidine has research to follow in foreign countries. Taiwan, Japan, and the United States all use it as a hospital preparation, and its safety and preparation process are relatively operable. Therefore, a common choice for parents of children from mainland China is to go to hospitals in Taiwan and the United States to get medicines.
As early as 2020, Xu Wei was looking for a pharmaceutical company willing to produce copper histidine. It was difficult to find a pharmaceutical factory that was willing to take orders, but they gave up because of the high price and long cycle.
“Copper histidine is a very old molecule that is out of patent protection. We do it as the firstPeople who take medicine are not protected by any law, because as long as we make it, there may be a dozen domestic manufacturers imitating it at a very low cost. “Li Yangyang, vice president of Langyu Group, said in an interview with 8:00 Jianwen.
If it weren’t for the epidemic, Xu Wei still has a silver lining, but with the global outbreak of the new crown, the channels for overseas medical treatment and medicine have been cut off. At first, he was able to find his patients to get expired copper histidine, but soon the expired medicines were also used up.
Looking at his deteriorating son, Xu Wei, who was desperate, started his dangerous road of self-medication.
Photo source: Xiao Haoyang’s father Weibo
Xu Wei admitted in an interview with a reporter from the Beijing News that the process of making his own medicine was very tortuous, because there was no one to support him, and the biggest difficulty he faced was loneliness. In fact, the self-medication does not improve the child much, it can only prolong his life and alleviate the current situation.
Xu Wei said he would still persevere, just as his 5-year-old eldest daughter said, “As long as we work hard, we will definitely be able to cure my brother’s illness.”
He is not a medicine god, just a father
“There is only one goal, try everything possible to save the child.”
Pharmaceuticals is by no means a low-entry industry. For ordinary people with only a high school education, it is more difficult to go from ignorant to breaking through medical barriers.
No one believed he could succeed, and relatives at home and parents in the patient group persuaded him to give up. “There are no experts and professors in China who can develop this drug. How can you do it yourself? Your idea is too naive.”
Menkes’ research materials are all in English. Even if they are translated into Chinese, there are too many specialized vocabulary to digest. “I didn’t understand it at first, and then I translated it word by word.” In those nights, Xu Wei soaked himself in Menkes-related papers and looked up professional terms one by one. At first, I could barely read 2-3 paragraphs a night.
“After understanding the meaning, I found that it is not very complicated to make this drug.” “The formula is provided in the paper, so I didn’t spend much time preparing the drug. As for the principle of this drug, I It was only later that I understood it, and at that time I was in a hurry to prepare the medicine so that it could be used on the child.”
With the formulation of the drug, the laboratory is another problem.
Fortunately, during a visit to a pharmaceutical company, Wei Xu discovered a shared laboratory for rent. He wrote down the models of various equipment in the laboratory, and after purchasing the equipment, he changed the utility room at home into a laboratory. “It was very crude at first, and the environment could not be sterile, but at least cells could be cultured.”
Photo source: Xiao Haoyang’s father Weibo
In about a month, the “medicine” was made. The next step, though, is testing security, which is more nerve-racking.
First, Xu Wei chose rabbits for a simplified version of animal experiments. At first, he wanted to use the baby rabbit as an analogy to a child, but all three of the baby rabbits died after being inoculated with the drug. So he replaced the experimental animals with larger meat-eating rabbits. This time, he succeeded, and the rabbits all survived and jumped alive.
After animal experiments, it’s time for human trials. Xu Wei decided to test the medicine by himself. He injected himself with 0.5ml, which seemed to be a success.
Two weeks after the drug was administered, the most tense moment came, and it was time to give Xiao Haoyang medicine.
When it comes to children, Xu Wei has become very cautious and only dared to use 0.2ml of “medicine” for the first time. However, when he went for a re-examination a week later, Xiao Haoyang’s examination results did not change.
After knowing the result, Xu Wei expressed his frustration. “But after thinking about it, I felt that there was no problem with this medicine, so I dared to add it to 0.5ml for him, and then went to test it a week later, and the child’s serum and ceruloplasmin returned to normal.”
At this point, the development of copper histidine has been declared a success!
However, Xu Wei also knew in his heart that even with the injection of copper histidine, the child’s condition did not improve much, and it could only prolong his life. Now Xiao Haoyang can only lie down and only laugh and move.
In principle, copper ions carried by copper histidine are difficult to penetrate the blood-brain barrier and cannot be transported to the brain area, which has little effect on the child’s brain development. In order to further improve the child’s situation, Xu Wei turned his attention to the preparation of copper elisimod.
However, more difficult than copper histidine, copper irisimod cannot be administered by subcutaneous injection, but is administered intravenously, which is more demanding and more expensive. This is a single-plank bridge. With Xu Wei’s persistent efforts, he succeeded again. After 3 months of using Xu Wei’s self-made ilismo copper, Xiao Haoyang’s EEG also returned to normal.
Last year, more people joined the attention to rare diseases as Xu Weizi’s story was reported. Xu Wei also started a new round of research on gene replacement therapy and stem cell therapy for Menkes rare diseases. The success of gene therapy in the future may bring hope to Xiao Haoyang and more children.
Photo source: Xiao Haoyang’s father Weibo
As Xu Wei wrote on Weibo, “Although illness is rare, the heart is warm. From the beginning of walking alone for love, to the help and support of everyone later, I believe that children will definitely feel it. , he is not alone, he is not alone in his struggle with the disease.”
Today (February 28) is International Rare Disease Day. Through this story, Mays also hopes that more people will pay attention to the group of rare disease patients, so that they are no longer “orphans”.
Reference Source:
[3] https:https://www.163.com/dy/article/GVRS7SP70517M9HG.html
[4] https:https://www.sohu.com/a/492883141_121148820
[5] https:https://baijiahao.baidu.com/s?id=1713553231301050752&wfr=spider&for=pc
[6] https:https://baijiahao.baidu.com/s?id=1677883694884249325&wfr=spider&for=pc
Source | Eight Points News, Beijing News, etc.
Writing | Swagpp
Edit | Swagpp