Insensitivity to pain? A true ordeal


Did you imagine that the feeling of nothingness was a gift from God? Think again: it’s a real pain.

Congenital insensitivity to pain can turn mild trauma into chronic infections that ruin the lives of those who suffer from it.


Do you not feel anything when you hurt yourself, a dream? Rather a nightmare. Congenital insensitivity to pain, an “extremely rare but extremely serious” disease that can turn mild trauma 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 Tour de France 2022 route, from Copenhagen to Paris.

With the aim of “challenging the scientific community” and “raising awareness about 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 sensation since birth.

“For the elder, we realized it when she started walking because she left traces of blood behind. It was quite impressive and she did not complain,” said Patrice Abela, an engineer in the Toulouse region of southern France and founder of Coralizée. the association, to AFP.

An initial infection in the toe, followed by another, causes 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”, this father continues with 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 on each of her fingers; she should also have had a toe amputated, ”he describes.

As they suffer from micro-fractures at the level of the knee that have 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 over and over again,” says their father. “When they take a bath, they perceive hot and cold, but if it burns, they feel nothing,” he illustrates again.

The pain, they know it, but it is a “psychological pain”, as it is, with serious consequences in their daily lives.

“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 Center for the Evaluation and Treatment of Pain at Ambroise -Paré Hospital (AP-HP), in Boulogne-Billancourt, in the Paris region.

“Pain actually plays a major physiological role in protecting us from the dangers of the environment,” he explains to AFP.

Gene mutations

In the most extreme cases, children will “mutilate their tongues or fingers under the first teeth”. So to have “a whole lot of accidents, burn themselves or keep walking on broken limbs that heal poorly” … If the pathology is detected early enough, “then they must be taught what is innate in children. Others: that protect themselves, ”he says.

However, many situations remain very problematic: A simple appendicitis, which manifests itself in fever but also in severe pain, can, for example, turn into a generalized infection of the abdomen if not taken in time.

Insensitivity to pain, which was first described in the 1930s, has been explained, according to several studies, by genetic mutations that prevent the development of pain receptors or hinder their function.

In most cases, a child has one in two chances of being affected 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 treatment for this particularly debilitating disease, the identification of the anomalies that explain it has at least made it possible to identify the crucial role that certain molecules play in pain, Dr. Bouhassira.

But a better understanding of pain will undoubtedly “contribute to the development of new painkillers” to paradoxically benefit all those who feel it, he bets.


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