At the Institute of Human Genetics in Aachen, Germany, Dr Ingo Kurth is preparing for a rather unusual appointment. She’s collecting blood samples from Stefan Betz, a 21-year-old university student who suffers from a genetic disorder so rare that only a few hundred people worldwide are estimated to have it.
Betz has congenital insensitivity to pain, or CIP. It means he can place his hand in boiling water or undergo an operation without anaesthetic, and yet feel no discomfort whatsoever. In every other way, his sensory perceptions are normal. He sweats when a room is too hot, and shudders at the biting chill of a cold wind. But like almost all who suffer from CIP, Betz finds his condition a curse rather than a blessing.
People assume that feeling no pain is this incredible thing and it almost makes you superhuman,” Betz says. “For people with CIP it’s the exact opposite. We would love to know what pain means and what it feels like to be in pain. Without it, your life is full of challenges.”
As a young child, Betz’s parents initially believed he was mildly mentally retarded. “We couldn’t understand why he was so clumsy,” his father Dominic remembers. “He was constantly bumping into things and getting all these bruises and cuts.”
Neither his parents or siblings have the condition, but the diagnosis of CIP eventually came when aged five, he bit off the tip of his tongue, without any apparent pain response. Shortly afterwards he fractured the right metatarsal in his foot, after jumping down a flight of stairs.
From an evolutionary perspective, one of the reasons scientists believe CIP is so rare is because so few individuals with the disorder reach adulthood. “We fear pain, but in developmental terms from being a child to being a young adult, pain is incredibly important to the process of learning how to modulate your physical activity without doing damage to your bodies, and in determining how much risk you take,” Kurth explains.
Without the body’s natural warning mechanism, many with CIP exhibit self-destructive behaviour as children or young adults. Kurth tells the story of a young Pakistani boy who came to the attention of scientists through his reputation in his community as a street performer who walked on hot coals, and stuck knives in his arms without displaying any signs of pain. He later died in his early teens, after jumping from the roof of a house.
“Of the CIP patients I’ve worked with in the UK, so many of the males have killed themselves by their late 20s by doing ridiculously dangerous things, not restrained by pain,” says Geoff Woods, who researches pain at the Cambridge Institute for Medical Research. “Or they have such damaged joints that they are wheelchair-bound and end up committing suicide because they have no quality of life.”
Betz has been to hospital more times than he can remember. He has a slight limp in his left leg, due to an infection, known as osteomyelitis, following a tibial bone fracture sustained skateboarding. “You learn that you have to pretend you have pain to prevent yourself from being reckless,” he says. “Which isn’t easy when you don’t know what it is. I now to try to be vigilant otherwise one day my body will just give out.”
But the very mechanisms which cause Betz’s disorder, could one day soon improve the lives of millions globally.
CIP was first reported in 1932 by a New York physician called George Dearborn who described the case of a 54-year-old ticket salesman who claimed not to recall any pain despite a range of experiences such as being impaled by a lathing hatchet as a child, and subsequently running home.