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Congenital insensitivity to pain is a disease that ruins the lives of those who suffer from it. This pathology, which results in the absence of feelings in the face of pain, can transform mild trauma into chronic infections. Focus on this “rare but very serious” disease.
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 Tour de France 2022, from Copenhagen to Paris.
His goal ? “Engage the scientific community” and “publicize the disease” from which his two daughters, aged 12 and 13, are affected: congenital insensitivity to pain.
In its most severe form, this syndrome is characterized by the absence of painful sensation since birth.
“For the eldest, we realized this when she started to walk because she was leaving trails of blood behind her. It was pretty impressive and she wasn’t complaining“, explained to AFP Patrice Abela, engineer in the region of Toulouse, in the south of France.
A first infection in the toe, followed by a second, leads them to consult various doctors, who end up making the diagnosis.
For their second daughter with the same syndrome, “we had the experience of the first“, continued this father of four children.
The protective function of pain
More than the disease itself, it is its consequences that pose a problem. “Due to repeated infections, my eldest daughter lost the first knuckle of each of her fingers; she also had to have a toe amputated“, said Patrice Abela.
Suffering from micro-fractures at the level of the knee having damaged their joints, the two sisters, who spend about three months a year in the hospital, only move around on crutches or in wheelchairs.
“Hyperlaxes (extreme flexibility, editor’s note), they can reproduce the same movement ad infinitum“, explained their father.
“When they take a shower, they feel hot and cold, but if it’s hot, they don’t feel anything.“, he added.
The pain, they know it, but it’s a “psychological pain“, which has serious repercussions in their daily lives.
Extremely rare. Only a few thousand cases are listed in the world, including fifteen in France. This disease is nonetheless “extremely serious”, underlined Doctor Didier Bouhassira, who practices at the Pain Assessment and Treatment Center of the Ambroise-Paré Hospital (AP-HP), in Boulogne-Billancourt, in the Paris region.
“Pain plays a major physiological role in protecting us from environmental hazards.“, explained Bouhassira to AFP.
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The cause: genetic mutations
In the most extreme cases, children will “mutilating the tongue or fingers during the first teething“. Then have “a whole bunch of accidents, burning yourself or continuing to walk on broken or badly healing limbs”.
If the pathology is detected early enough, “they must then be taught what is innate in others: to protect themselves“, indicated the specialist.
But many situations remain very problematic. For example, a simple appendicitis, which is manifested by fever but also by severe pain, can turn into a generalized infection of the abdomen if it is not caught in time.
Described for the first time in the 1930s, insensitivity to pain is explained, according to several 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 anomaly.
Other studies have shown that excessive production of endorphins (hormones with a powerful painkilling effect) in the brain could also be to blame.
If no treatment exists for this particularly debilitating disease, the highlighting of the anomalies that explain it, has at least allowed “identify the crucial role that certain molecules play in pain”, underlined Doctor Bouhassira.
However, a better understanding of pain will undoubtedly make it possible to “contribute to the development of new analgesics“to, paradoxically, benefit all those who feel it, he concluded.