Two-year-old Haoyang likely only has a few months to live – but the only drug that can help his rare genetic condition is nowhere to be found in China, and closed borders due to the pandemic mean he cannot travel for treatment.
Important points:
- Two-year-old Haoyang has a rare genetic condition called Menkes syndrome
- There is no treatment for him in China
- The boy’s father researched a drug online and used translation services to make it
Instead, his desperate father Xu Wei set up a home laboratory to find a cure for the boy himself.
“I didn’t really have time to think about whether to do it or not. It had to be done,” the 30-year-old from his DIY lab in a high-rise apartment building in southwest Kunming told AFP.
Haoyang has Menkes syndrome, a genetic disorder that affects how copper – which is critical to the development of the brain and nervous system – is processed in the body.
Affected people rarely survive for more than three years.
However, Xu, who had just graduated from high school and ran a small online business before his son fell ill, is determined to give him a chance.
“Although he cannot move or speak, he has a soul and feels emotions,” he said, holding Haoyang on his lap to give him honey in water.
After he was told that the disease was incurable and that the only medicines that could relieve his symptoms were not available in China, he began researching medicines and teaching himself.
“My friends and family were against it. They said it was impossible,” he recalls.
Most of the online documents on Menkes Syndrome were in English. Undeterred, Xu used translation software to understand them before setting up a home laboratory in his father’s gym.
When he discovered that copper histadine could help, he set up the equipment to make it himself by mixing copper chloride dihydrate with histidine, sodium hydroxide, and water.
Xu Wei set up a home laboratory in his father’s gym. (AFP: Jade Gao)
Blocked by pandemic
Xu now gives Haoyang a daily dose of homemade medicine that gives the child some of the copper that his body lacks.
The amateur chemist claims that some of the blood tests normalized two weeks after starting treatment.
While unable to speak, the toddler smiles approvingly as his father rubs a gentle hand over his head.
His wife, who refused to give her name, looks after the five-year-old daughter in another part of the city.
Menkes syndrome
Menkes syndrome is more common in boys than girls, and it is estimated that one in 100,000 babies worldwide is born with the disease, according to the organization Rare Diseases.
Little information or data is available, but Xu said drug companies have shown little interest because the treatment “has no commercial value and the user population is small”.
Under normal circumstances, he would have traveled overseas to bring treatments for Haoyang back from specialized centers overseas, but China has largely closed its borders since the beginning of the COVID-19 pandemic.
Xu felt that he had no choice but to do it himself.
“At first I thought it was a joke,” said Haoyang’s grandfather Xu Jianhong.
Xu Haoyang was diagnosed with Menkes syndrome and probably only has months to live.AFP: Jade Gao )
“[I thought] it was an impossible mission for him. “
But six weeks after throwing himself into the project, Xu made his first vial of copper histidine.
To test it, he first experimented with rabbits and then injected the treatment into his own body.
“The rabbits were fine, I was fine, so I tried my son,” he said.
Reassured, he began to gradually increase the dosage.
But medicine is not a cure.
Professor Annick Toutain – a rare disease specialist at Tours University Hospital in France – said the copper treatment is “only effective against certain genetic abnormalities and, if given very early, in the first three weeks of life”.
She said treatment afterwards would relieve symptoms “without any recovery”.
Xu has accepted that it can “only slow down the disease”.
Gene therapy
His work piqued the interest of VectorBuilder, an international biotech laboratory that is now starting gene therapy research with Xu on Menkes syndrome.
The company’s chief scientist Bruce Lahn described it as “a rare disease among the rare diseases” and said they were inspired after learning about Xu’s family.
Clinical studies and animal experiments are planned for the next few months.
Xu was even contacted by other parents whose children were diagnosed with Menkes and asked him to treat their relatives as well, which he refused.
“I can only be responsible for my child,” he told AFP, while health officials have said they will not intervene as long as he is providing treatment for home use only.
Huang Yu from Peking University Medical Genetics Department 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 serve such families.”
As a full-time chemist, Xu has a low income and is mostly dependent on his parents.
Friends tried to talk him out of his medical endeavors, but the young father is determined to study molecular biology and do everything possible to protect his son.
“I don’t want him to be desperate to die. Even if we fail, I want my son to have hope.”
AFP
