How far would you go to save your child’s life?
Haoyang was born in Kunming in southwest China two years ago with a very rare disease: Menkes syndrome.
The disease is a genetic disease that impacts how copper – which is crucial for brain and nervous system development – is processed in the body.
Menkes syndrome is more common in boys than in girls, and it is estimated that one in 100,000 babies are born with the disease worldwide according to the organization Rare Diseases. People with the disease rarely survive beyond 3 years.
Symptoms usually appear in the first few months of life and include thinning and frizzy hair, as well as slow growth (or stunted growth) and seizures.
Additional features can include poor muscle tone, known as hypotonia, sagging facial features, and intellectual and developmental disability.
Treatment can help cope with the disease, but it is not available in China. And due to the strict restrictions related to COVID-19, the chances of Haoyang traveling overseas to obtain the appropriate drug are near nil.
To overcome the situation, Xu Wei, Haoyang’s father, decided to build a home lab and create his own medicine.
“When I knew that there was a treatment available for my child’s illness and that it could theoretically be tried, even though it’s far from us ordinary people, I still think I can try to at least let my son pursue this hope, “Xu Wei told AFP. .
“I don’t want him to wait for death out of desperation. Even if that fails, I wish my son was on the path to hope.
From tiny online businessman to amateur chemist
With only a high school diploma, Xu Wei started his DIY lab in his father’s gymnasium.
Most of the online documents on Menkes Syndrome were in English, but without being discouraged, Xu used translation software to understand them.
Discovering that copper histidine could help, he set up the equipment to create it himself, by mixing copper chloride dihydrate with histidine, sodium hydroxide and water. .
“At that point, I just learned what was needed,” he explained.
“For example, when learning the brewing process, if I want to know what copper chloride dihydrate is and a clean bench, I will specifically search for the terms. I only needed to understand the preparation process in the papers and then I could make any copper histidine I wanted. It was the most urgent thing for me at the time “.
Some of his friends tried to dissuade him from his efforts, but Xu Wei’s only goal is to save his son.
“I thought about giving up when I struggled at the start,” he admitted.
“No one can insist on going on with something 365 days, every minute and every second. It’s impossible. So I’m going to allow myself to give up, but just for a night, a day or two, to loosen up a bit. pressure, and then I will come back to the search for this treatment ”.
He first tested the mixture on rabbits and then injected the treatment into his own body. Noting that there were no side effects after a few tries, the father began to treat Huayang with the home remedy.
Xu gave Haoyang a daily dose of the medicine, which gives the child some of the copper that his body lacks.
The amateur chemist says some of the blood tests returned to normal two weeks after starting treatment.
Home medicine, a limited impact
“It is not difficult to produce this drug,” Huang Yu, deputy director of the medical genetics department at Peking University, told AFP.
For Huang, this drug is a “simple organic reaction”.
“From what I see, at least nothing looks bad for the safety in the production of the compounds used in its early treatment,” he added.
“For example, the copper sulphate he used is found in our daily diet and it is not dangerous. The latest work he did was more about cell culture experiments, which wouldn’t pollute the environment too much. Of course, this must be supervised by the regulatory authorities, so I hope that his laboratory can be gradually formalized ”.
According to relevant China’s policy, if anyone wishes to apply for the production of drugs, he or she must go through a series of animal and human experiments, Huang said. “He has a set of requirements.”
But the drug is not a cure, AFP noted.
Professor Annick Toutain, specialist in rare diseases at the University Hospital of Tours in France, declared that the copper treatment “is only effective against certain genetic abnormalities and if it is administered very early, in the first three weeks of life” .
She said that after that, the treatment would relieve the symptoms, “without leading to a cure.”
Xu accepts that he can “only slow down the disease.”
He was also approached by other parents of children with the same disorder, but refused to give them (or sell) the drug.
“I can only be responsible for my child,” he told AFP. Health officials said they would not step in until he did the treatment for home use only.
Huang told AFP that as a doctor he was “ashamed” to hear about Xu’s case.
He said he hoped that “as a developing country we can improve our medical system to better help these families.”
His work has aroused the interest of VectorBuilder, an international biotechnology laboratory, which is currently initiating gene therapy research with Xu on Menkes syndrome.
Company chief scientist Bruce Lahn described it as “a rare disease among rare diseases” and said they were inspired after hearing about Xu’s family.
Clinical trials and animal tests are planned in the coming months.