Grandmother Marsili fell off an escalator, and, fearing the worst, went to see a doctor about her broken ankle.
The doctor examined her, but then gave her a look and a strange reply. “She said, ‘You haven’t broken anything this time, but you have broken your ankle twice before,” Marsili told BBC documentarians.
This was news to Marsili. As far as she knew, she’d never broken a bone.
But that wasn’t even the weirdest thing this medical mystery revealed. As researchers dug into Marsili’s story, they realized that she not only had a rare condition, but her entire family did too.
In fact, there is a gene in your DNA that allows you to feel pain, and Marsili barely had it. And six members of this Italian family showed similar conditions—which meant they felt virtually no pain.
A family cannot feel pain because of a rare genetic mutation https://t.co/Dn9yVjyWsO
— The Independent (@Independent) December 14, 2017
Another family member said that she can’t feel irritation at all when she eats or drinks something as hot as boiling, and as a result still has blisters in her mouth.
The members of the family have all of the nerves that let people feel pain—so that suggested to the research team that their condition was genetic and embedded in their DNA.
They did tests on mice, and when they removed this particular gene, the mice seemed to display much lower pain sensitivity.
Because it is so rare, Cox thinks this specific disorder might be limited to just the Marsilis.
“This particular disorder may only be in one family,” he said.
The hope, for researchers studying the family, is that better understanding the Marsili’s conditions will lead to breakthroughs in treatment for pain—helping millions who suffer from chronic pain.
Several years ago, scientists discovered a different gene that limits pain.
Teenager Ashlyn Blocker became the face of this condition, as the girl could not feel any pain at all—even putting her hand into a pot of boiling water elicited no pain.
“I can feel pressure, but I can’t feel pain,” she explained.
Doctors revealed that Ashlyn had two defective copies of the SCN9A gene, which affected her nerves from transmitting when they sensed pain.
How crazy and scary to not be able to know when something is wrong.
It’s been a cause of worry for her parents, because this means Ashlyn could hurt herself without realizing it, and others with this condition often unintentionally hurt themselves. They can feel the difference between warm and cold, but extreme temperatures still do not elicit pain.
Scientists estimate that there are about 11 families with this particular gene disorder around the world.
This story is from the Florida Times-Union about Patterson's Ashlyn Blocker, the "girl who feels no pain." Ashlyn's…