Video loading...
Recently, in order to save his son with rare diseases, the father with high school education has attracted widespread attention and moved people by teaching himself pharmaceuticals and self-taught gene editing.
This father's name is Xu Wei. His son, Kohagi, suffers from a rare disease: Menkes syndrome. Because there was no way to seek medicine, Xu Wei made a "crazy" decision - to save his son by himself.
Image source Screenshot of Xu Wei's Weibo
My son was diagnosed with a rare disease
When Kohaba was born on June 6, 2019, except for his curly hair and slightly fair skin, he looked no different from an ordinary baby.
Image source Xu Wei Weibo
But by the time he was 6 months old, he wouldn't lie on his stomach and turn over, and his head wouldn't be able to lift steadily.
The First People's Hospital of Yunnan Province identified Xiao Haoyang as growth retardation, and the genetic test report issued until 3 months later announced the conclusion: ATP7A gene defect, Menkes syndrome, can be said to be the "infant version of Alzheimer's disease".
Menkes' disease (MD), also known as curly hair syndrome, is a rare congenital abnormal copper metabolism disorder that is inherited in the form of X-linked recessive inheritance. Clinical manifestations are characterized by growth disorders, psychomotor development disorders, spastic seizures, and various hair abnormalities.
After the onset of the disease, due to poor lactation, weight, length and head circumference have stopped developing, and there are spastic episodes such as myoclonus, and intellectual development is significantly delayed. At first, he could look up and smile, but soon disappeared and became a vegetative state, dying in an average of 19 months.
Children with typical Menkes disease may be born normally, begin to develop severe neurodegeneration at 2 to 4 months, and usually die before the age of 3 years.
This is the first case of Menkes syndrome in Yunnan, and even when the first doctor got the report, he first checked the information for half a day, and then told Xu Wei that there was no rule of law.
The low probability of doom is unbelievable, xu Wei's family has sought medical treatment, but the conclusion is confirmed again by pediatric experts at the Beijing Plaster General Hospital.
There is no way to seek medicine, choose self-medicated
Symptomatic treatment of Menkes requires a compound: histidine copper.
Offshore, copper histidine is usually present in the form of in-hospital preparations. There are also doctors in China who have tried to promote copper histidine as a hospital preparation, but in the end it was not resolved for various reasons. There is no way, domestic parents have to go to hospitals in Taiwan and the United States to get medicine.
However, helplessly, due to the impact of the new crown epidemic, Xu Wei could not get medicine from abroad.
Xu Wei looked up papers in a small hotel outside the hospital, studied all the information he could find about Menkes and copper histidine, and decided to embark on the road of self-medicine.
Source Phoenix News Xu Wei Notes
In the beginning, no one believed he could do it, and there were many doubts, difficulties, and dangers.
When Xu Wei first proposed the idea of self-pharmaceutical in the patient group, he was relentlessly refuted by parents who were sympathetic to the disease, "This is a legal risk." "The wife also does not believe, if it is so simple, how can no company be willing to do it?" Xu Wei's father also said: "Do you think you are a scientist?" "I bet you can't do it." His relatives all advised him to give up and have another one while he was still young.
However, Xu Wei was unwilling to give up, even if there was only a glimmer of life, he had to grasp it firmly.
"If I only count on doctors and hospitals or rely on the state to pay attention to this disease, there is basically no hope for my child, first, the number of patients is too small, no pharmaceutical company is willing to do it; second, the time cycle is too long, many children with rare diseases have no time to wait."
Went out of his way to save his son
The doctor said it was a miracle
It is helpless to become a doctor after a long illness.
Xu Wei learned about the disease, learned to synthesize histidine copper, studied various types of equipment, and built a simple laboratory at home. Xu Wei also went to the Rare Disease Conference in Hangzhou, where he participated in two sub-forums on rare disease drug research and development and rare disease gene therapy, and learned about gene therapy.
After many difficulties, Xu Wei solved the problem of histidine copper, as well as the more difficult and costly copper problem of Irismol copper.
At the same time as studying self-pharmaceuticals, Xu Wei also enrolled in the adult college entrance examination, and his future goal is to "take the graduate school exam, go to the real laboratory, and understand all aspects of his son's disease, especially molecular biology."
He hopes that systematic learning will lay the foundation for future gene therapy for his son's disease. He didn't want to leave behind the regret that he didn't do his best to save his son.
Image source Phoenix News Lab
When Xiao Haoyang was 2 years old, Xu Wei asked the doctor, "My son can only laugh, and he has not experienced much improvement." Unexpectedly, the doctor asked, "What else do you want?" It seemed to me a year ago that your child could not be like this today, laughing and moving. "It's already a miracle!"
The father with a high school education responded to save his son from self-medicine
Research into gene editing tools will be invested
Today, Xu Wei still insists and thanks everyone for their concern. In the flat tone, I don't know how much despair I have faced, and how many times I have regained hope. It also responds to the relevant problems in the process of producing compounds in the article, and the following is the full text:
【About compound safety issues】
I have tried my best to achieve environmental cleanliness according to the pharmacopoeia, the space has also been sterilized with peracetic acid, the air sedimentation bacteria and planktonic bacteria have passed the inspection, the preparation has finally passed the filtration sterilization of 0.22um, and all the raw materials are used in the medicinal grade, and finally the sterility will be verified by TSA inoculation, and the bacterial endotoxin will be detected by the reagent.
【Related conditions of children after taking the drug】
However, the compound can only alleviate the son's condition, so he began to cultivate mesenchymal stem cells, hoping to better improve the child's condition through stem cells. Fortunately, stem cell culture has been successful, but in the face of biological agents of Mycoplasma, human viruses, cell surface markers, telomerase and other related testing costs are expensive, and after the child is sick, all sources of income are broken, coupled with the construction of laboratories and the development of genetic drugs in the later stage, it is really shy, I hope that relevant testing institutions can provide some help.
【I hope experts can help answer questions】
I know that the final treatment of diseases caused by genetic mutations must be gene therapy, from the preparation of compounds at the same time I have been carrying out the AAV9-mediated gene replacement therapy program, after more than 1 year of efforts, finally through the analysis of protein domain truncated the sequence of ATP7A gene, and the construction of plasmids, has also been on 293T cells expression verification and biological activity verification, AAV packaging company has also signed a contract, However, the immunity problems and multiple delivery problems of the AAV9 vector are not well understood, and it is hoped that the relevant AAV vector experts can help answer some questions, and also hope that the relevant animal experimental institutions can provide some support for subsequent safety tests.
【Will invest in gene editing tools research】
Because the child's mutated genes are expressed throughout the body, AAV9-mediated gene substitution can only solve the genetic problems of some organs with slow renewal cycles, and the final gene editing in vivo is the most thorough treatment method, I want to devote myself to the study of prime editor's gene editing tools after gene replacement therapy, because my child's mutation is a repeat mutation, and an additional A base is inserted in the ATP7A gene sequence at position 1141, resulting in the termination codon ahead and protein translation being blocked. So I wanted to excise the extra A base through the prime editor tool, and I considered using the child's skin fibroblasts to be cultured in vitro as model cells, designing the prime editor's RNA according to the mutation site, and verifying the editing efficiency by constructing plasmids. I also hope that the relevant experts can help me.
He was not a medicine god, just a father. Regardless of whether the self-pharmaceutical is in compliance, for the sake of his son, Xu Wei does everything he can do.
Ordinary greatness is always admirable. Hopefully more miracles will strike! (Comprehensive Weibo, Jiupai News, Phoenix News, Frontier Position of Science and Technology)