Boy with a strange disease

“I didn’t even know what it was until I started researching it,” said the boy’s mother, Donna Skitmore, 46, of her baby’s rare condition.

Her son, Zach Skitmore, has Congenital Pain Insensitivity (CIP), a genetic condition that “inhibits the ability to perceive physical pain”.

The disease often leads to “a buildup of wounds, fractures and other health problems that can go undetected.”

CIP is an extremely rare disease with an incidence of approximately one in a million.

Donna and her husband Steve, 53, from Norwich, Norfolk, England, first suspected their son had a huge tolerance when he was just nine months old.

“When the boy was injected, the nurse said she had never seen a child unresponsive,” the mother recalls.

When Zach was just 1 year old, he bit his own tongue without even realizing it. Then when he was 4 years old, he suffered a severe dislocation of his hip but then the doctors put it back in place without any anesthetic.

Donna described: ‘When he dislocated his hip, the doctors were surprised because no one can sit there with a dislocated hip without pain.

“If something is too hot or causing pain, a normal child will move away, that is a natural response. But he doesn’t have those reactions because he doesn’t know they’re hurting him.”

Despite Zach’s peculiar symptoms, his parents struggled to convince doctors of their son’s condition.

“For six years, I kept saying he couldn’t feel pain, but no one believed me.” She added that the disease is so rare that most doctors in the UK are unaware of it.

Zach was eventually diagnosed with CIP at Addenbrookes Hospital in Cambridge after he was walking with a badly broken leg for several days.

Being immune to pain sounds like a superpower. However, it’s been a real nightmare for Zach and parents, who must try to prevent their child from accidentally injuring themselves – especially since CIP has no cure.

Donna explained: ‘We had to check all the food and the tub to make sure he didn’t get burned because he couldn’t tell when it was too hot for him. It cannot play football, rugby or any contact sport. We can’t let him get into anything like a castle or a sleigh because it’s too dangerous.”

The mother also fears that Zach’s future classmates will find out about her son’s condition and try to “test his limits”.

Despite his parents’ best efforts, Zach’s boundless pain tolerance has resulted in him developing Charcot’s joint, a progressive complication that can cause infection, deformity, and the need for amputation if left untreated. treatment.

Currently, surgeons in the UK say that Zach’s condition has deteriorated to the point that there is nothing they can do. However, his parents started fundraising with the goal of having more than 63,000 USD to help their son get treatment by a surgeon specializing in joints Charcot in the US.

Donna wrote on the donation page: “We found an orthopedic surgeon in the US, Dr. Feldman, who could help save Zach’s joints and give him a chance to maintain his ability to walk. The reality is that if we don’t do anything, Zach is likely to be in a wheelchair for the rest of his life.”

“We will do whatever it takes to get him operated on,” she said.

Dang Duong (According to the New York Post)