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Friday, August 19, 2022

This rare disease makes you insensitive to pain… but causes “real suffering” on a daily basis

Do you feel nothing when you hurt yourself, a dream? Rather a nightmare. Congenital insensitivity to pain is an “extremely rare but extremely serious” disease, which can turn minor trauma into chronic infections. Light on a still unknown pathology that is destroying the lives of those who suffer from it.

On April 12, Patrice Abela, 55, will take on a major challenge: running the equivalent of 90 marathons in less than four months, following the Tour de France 2022 route, from Copenhagen to Paris. Goal : “a challenge for the scientific community” and “make the disease known” suffered by her two daughters aged 12 and 13, namely congenital insensitivity to pain.

In its most severe form, this syndrome is characterized by the absence of a painful sensation since birth. “For the oldest, we realized it when she started walking, because she left traces of blood. It was quite impressive and she wasn’t complaining”, tells AFP Patrice Abela, engineer in the Toulouse region, in the south of France. A first infection in the toe, followed by a second, leads them to see several doctors, who finally make the diagnosis.

For their 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 the consequences that are a problem. †Due to repeated infections, my oldest daughter lost the first knuckle of each of her fingers; she also had to have a toe amputated”, he describes. The two sisters, who are hospitalized for about three months a year, suffer from knee microfractures that damaged their joints, and move only on crutches or in wheelchairs. “Hyperlaxing [N.D.L.R : souplesse extrême]they can always reproduce the same movement”says their father.

“When they shower they feel hot and cold, but when it’s hot they don’t feel anything”, he illustrates again. The pain, they know it, but it’s a… “psychological pain” in question, with serious consequences for their daily lives.

“special” – there are only a few thousand cases in the world, about fifteen in France – this disease is no less “very serious”underlines Dr. Didier Bouhassira, who works in the pain assessment and treatment center of the Ambroise-Paré Hospital (AP-HP), in Boulogne-Billancourt, in the Paris region. “Pain does indeed play an important physiological role in protecting us from environmental hazards”he told AFP.

Genetic mutations at the origin of the disease

In the most extreme cases, children “mutilating the tongue or fingers during the first teeth”. then have “a whole lot of accidents, burn yourself or keep walking on broken limbs that heal badly”… If the pathology is detected early enough, “we must then teach them what is innate in others: to protect themselves”the doctor says. But many situations remain very problematic: for example, a simple appendicitis, manifested by fever but also severe pain, can turn into a generalized infection of the abdomen if not taken in time.

First described in the 1930s, according to several studies, insensitivity to pain is explained by genetic mutations that prevent the development of pain receptors or hinder 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 an excessive production of endorphins – hormones with a powerful analgesic effect – in the brain can also be the cause.

If no treatment exists for this particularly debilitating disease, identifying the anomalies that explain the disease has at the very least made it possible to identify the critical role certain molecules play in pain, Dr. Bouhassira. A better understanding of pain will undoubtedly make it possible to: “contribute to the development of new painkillers” to help, paradoxically, anyone who feels it, he bets.

(AFP)

john willhttps://receivinghelpdesk.com
John is a Gamer And A Writer By Heart. He Writes News Articles On Receivinghelpdesk And Also Specializes In Writing Tech and entertainment-related topics. He Loves Watching Movies And Shows. Definitely A Complete Extrovert.

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