AFP, published on Tuesday 05 April 2022 at 07h18
Not feeling anything when you get hurt, a dream? More like a nightmare. Congenital insensitivity to pain, an “extremely rare but extremely serious” disease, which can transform minor injuries into chronic infections, ruins the lives of those who suffer from it.
On April 12, Patrice Abela, 55, will embark on a major challenge: run the equivalent of 90 marathons in less than four months, following the route of the 2022 Tour de France, from Copenhagen to Paris.
With the aim of “challenging the scientific community” and “raising awareness of the disease” suffered by his two daughters, aged 12 and 13: congenital insensitivity to pain.
In its most severe form, this syndrome is characterized by the absence of pain sensation from birth.
“For the older one, we noticed when she started walking because she was leaving trails of blood behind her. It was quite impressive and she had no complaints,” Patrice Abela, an engineer in the Toulouse region of southern France, told AFP.
A first infection in the toe, followed by a second, leads them to consult several doctors, who end up giving the diagnosis.
For his second daughter with the same syndrome, “we had the experience of the first”, continues this father of four children.
– The protective role of pain –
More than the disease itself, it is its consequences that pose a problem. “Due to repeated infections, my oldest daughter lost the first joint of each of her fingers; she also had to have a toe amputated,” she describes.
Suffering from microfractures in the knee that damaged their joints, the two sisters, who spend about three months a year in hospital, only get around on crutches or in wheelchairs.
“Hyperloja (extreme flexibility: editor’s note), they can reproduce the same movement over and over again,” says his father.
“When they take a shower, they feel hot and cold, but if it burns, they don’t feel anything,” he illustrates again.
The pain, they know, but it is a “psychological pain” that it is, with serious repercussions in their daily life.
“Rare”: only a few thousand cases are listed in the world, about fifteen in France, this disease is no less “extremely serious”, emphasizes Dr. Didier Bouhassira, who practices at the Pain Assessment and Treatment Center in Ambrose. -Hospital de Paré (AP-HP), in Boulogne-Billancourt, in the Paris region.
“In fact, pain plays an important physiological role in protecting us from the dangers of the environment,” he explains to AFP.
– Genetic mutations –
In the most extreme cases, children “cut off their tongues or fingers during their first teeth.” Then having “a lot of accidents, getting burned or walking on broken limbs, which heal poorly”…
If the pathology is detected in time, “then you have to teach them what is innate in others: protect yourself,” he says.
But many situations are still very problematic: a simple appendicitis, which manifests itself with fever but also with severe pain, can become, for example, a generalized infection of the abdomen if it is not treated in time.
First described in the 1930s, insensitivity to pain is explained, according to various studies, by genetic mutations that prevent the development of pain receptors or obstruct their functioning.
In most cases, a child has a one in two chance of being affected if both parents are carriers of the genetic abnormality.
Other studies have shown that the excessive production of endorphins (hormones with a powerful pain-relieving effect) in the brain could also be the cause.
If there is no treatment for this particularly debilitating disease, the identification of the anomalies that explain it has at least allowed us to identify the crucial role that certain molecules play against pain, Dr. Bouhassira emphasizes.
But a better understanding of pain will certainly “contribute to the development of new painkillers” to paradoxically benefit all those who feel it, he bets.