Feeling nothing when you hurt yourself, sleep? More like a nightmare. Congenital insensitivity to pain, an “extremely rare but extremely serious” disease that can turn a minor injury into a chronic infection, ruins the lives of those who suffer from it.
On April 12, 55-year-old Patrice Abela will embark on the big challenge of running the equivalent of 90 marathons in less than four months on the 2022 Tour de France route from Copenhagen to Paris.
With the aim of “challenging the scientific community” and “raising awareness of the disease” that his two daughters, aged 12 and 13, suffer from: congenital insensitivity to pain.
In its most severe form, this syndrome is characterized by the absence of painful sensations from birth.
“As for the eldest, we realized that when she started walking because she left bloody footprints behind her. It was pretty impressive and she didn’t have any complaints,” Patrice Abela told AFP. France.
The first infection in the toe followed by the second causes them to go to various doctors who eventually make a diagnosis.
For their second daughter with the same syndrome, “we had the experience of the first,” the father of four continues.
– Protective role of pain –
The problem lies not only in the disease itself, but also in its consequences. “Due to repeated infections, my eldest daughter has lost the first joint of each finger; she also had to have her toe amputated,” he describes.
Suffering from micro-fractures in the knee that damaged the joints, the two sisters, who spend about three months a year in the hospital, get around only on crutches or in wheelchairs.
“Hyperlaxes (extreme flexibility: editor’s note), they can play the same movement over and over again,” says their father.
“When they take a shower, they feel hot and cold, but if it burns, they don’t feel anything,” he illustrates again.
Pain, they know it, but it is “psychological pain” that has serious consequences in their daily lives.
“Rare” – there are only a few thousand cases worldwide, about fifteen in France – this disease is no less “extremely serious,” emphasizes Dr. Didier Boissira, who practices at the Ambroise Pain Evaluation and Treatment Center. Hospital Paré (AP-HP) in Boulogne-Billancourt, in the Paris region.
“Pain does play an important physiological role in protecting us from environmental hazards,” he explains to AFP.
– Genetic Mutations –
In the most extreme cases, children “mutilate their tongue or fingers during the first teething.” Then “a whole bunch of accidents, getting burned or continuing to walk on broken limbs that don’t heal well”…
If the pathology is detected early enough, “then they need to be taught what is innate in others: to protect themselves,” he says.
But many situations remain very problematic: a simple appendicitis that presents with fever as well as severe pain can, for example, turn into a generalized infection of the abdominal cavity if it is not treated in time.
First described in the 1930s, insensitivity to pain is explained, according to a number of studies, by genetic mutations that prevent the development of pain receptors or interfere with their functioning.
In most cases, the chance of a child getting sick is one in two if both parents are carriers of the genetic abnormality.
Other studies have shown that excessive production of endorphins – hormones with a strong pain-relieving effect – in the brain can also be the cause.
If there is no cure for this particularly debilitating disease, identifying the anomalies that explain it has at least made it possible to determine the crucial role that certain molecules play in the fight against pain, emphasizes Dr. Buhassira.
But a better understanding of pain will undoubtedly “contribute to the development of new analgesics” that, paradoxically, will benefit everyone who feels it, he said.