Scientists solve the mystery of the woman who did not feel pain

They told him that the birth would be painful. But, over the hours, nothing disturbed him, even without the epidural.

"I felt that my body was changing, but it did not hurt," remembered the woman, Jo Cameron, who is now 71 years old. He said it was like "a tingling". Then he would say to pregnant women, "Do not worry, it's not as bad as it says."

It's only recently – more than four decades later – that she knew her friends did not overdo it.

There was something different about how his body felt the pain: he did not really feel it.

Some scientists believe they finally understand why this is so. In an article published March 28 in the British Journal of Anesthesia, researchers attributed the lack of physical pain in Cameron's life to a mutation in a gene that had not yet been identified. They hope that this discovery will contribute to the development of a new pain treatment. They believe that this mutation could also be related to the reason why Cameron has felt little anxiety or fear throughout his life and why his body heals quickly.

"We have never met a patient like her," said John Wood, head of the molecular nociception group at University College London.

For nearly a hundred years, scientists have documented case studies of individuals who feel little to no pain. But the genetic mutation that seems to be responsible for the pain almost never felt by Cameron has never been identified before.

The study appeared amidst important developments in the acute debate about how to manage pain responsibly. On Thursday, the state of New York filed one of the most compelling complaints to date against the Sackler family, owner of Purdue Pharma, the maker of opioid OxyContin.

Stephen G. Waxman, neurologist at Yale and author of Chasing Men on Fire: the story of pain gene research, said Stephen G. Waxman. Waxman has not participated in the recent article, but has also studied people with rare mutations that alter the way they feel pain.

"Each of these mutations teaches us something and tells us a particular gene as a potential target for new, more effective pain medications," he said.

The sequence of events that led scientists to study Cameron's genes began about five years ago. She lived a happy and ordinary life on the shores of Loch Ness, Scotland, with her husband, she explained. After surgery in the hand, a doctor seemed perplexed not to feel pain or want painkillers.

"I badure you that I will not need anything," said Cameron, who told Devjit Srivastava, consultant in anesthesia and pain treatment at a hospital in the National Health Service, in the north of Toronto. 39, Scotland, one of the authors of the article.

Follow-up questions revealed that Cameron was unusual. At the age of 65, he needed a hip replacement. Since he never felt pain, he did not realize that something was wrong before the bones were already worn out. The cuts, burns and fractures did not hurt either. In fact, sometimes she did not realize that something was wrong until she smelled burnt flesh or when her husband told her that she had blood. He also said that eating red pepper left him only "a pleasant brightness".

Srivastava referred it to the molecular nociception group at University College London, a team that focuses on genetics to understand the biology of pain and touch. They had clues for your case. In recent decades, scientists have identified dozens of people who treat pain in an unusual way. But when James Cox, the group's senior professor and author of the new article, looked at his genetic profile, he did not look like other people who did not feel pain either.

Finally, he found what he was looking for in a gene that scientists call FAAH-OUT. We all have this gene. But in Cameron, "the patient suffers a deletion of the front of the gene," he said, adding that additional blood tests confirmed this hypothesis.

Cameron said she was surprised by the interest that aroused her case. Until his conversation with Srivastava, he did not think about pain. Perhaps because, despite frequent burns and cuts, his wounds rarely left a scar, another aspect that scientists say is related to the mutation.

Several articles have been written about the parents of children with similar illnesses. Many live with the fear that by not feeling the pain, their children will not learn to avoid situations that could hurt them. Cameron said his parents never cared about this. She thinks it may be because she inherited her father's mutation.

"I do not remember that he needed painkillers," he said. "I think that's why it did not seem strange to me."

Unfortunately, since he died before the discovery, we will not know if he was carrying the mutation. His mother does not have it. Your daughter no more. His son "has the same microsuppression in FAAH-OUT, but he does not present the other mutation that results in a reduction in the function of FAAH," explained Cox.

In other words, your child shares a little with her, but not all of her insensitivity to pain.

Scientists are also intrigued by Cameron's extremely low anxiety level. In a questionnaire about anxiety disorders, she got a zero out of a total of 21. She does not remember being already feeling depressed or frightened.

"I am very happy," he said.

In retrospect, he sees how his genetic disposition can have helped him in his professional career. After years as an elementary school teacher, she was trained to work with people with severe mental disabilities. Erratic and aggressive behavior has never affected him, he said.

However, although this mutation seems to be a dream, it has drawbacks. The first is that she forgets a lot, so she is inclined to lose her keys or forget what she means while she speaks. Another is that he has never felt the "adrenaline blasts" that others are talking about as much, he said.

The researchers said they would now be working to better understand the workings of FAAH-OUT in order to design gene therapy or other medical procedures designed to relieve pain and based on it. To make such discoveries a true treatment for pain or anxiety, it is necessary to take many steps, to work for many years and to invest many millions of dollars. It is rare that a product arises.

But not impossible, said Waxman. A person with unusual genetic makeup can shape the drug of the future, he said, and as a reminder, he referred to statin drugs.

"They were largely developed as a result of the discovery of extremely rare families in which all people with myocardial infarction were in their twenties," he said. It is still too early to say whether Cameron's mutation or that of another individual will determine the future of painkillers.

"But I am convinced that the lessons we derive from genes that deal with pain will lead to the creation of a completely new type of painkillers," he said.

* Copyright: 2019 The New York Times News Service