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How a Single Gene Could Become a Volume Knob for Human Suffering



By Erika Hayasaki
04.18.17

On a scale of 1 to 10, how would you rate your pain? Would you say it aches, or would you say it stabs? Does it burn, or does it pinch? How long would you say you’ve been hurting? And are you taking anything for it?

Steven Pete has no idea how you feel. Sitting in Cassava, a café in Longview, Washington, next to a bulletin board crammed with flyers and promises—your pain-free tomorrow starts today; remember: you’re not alone in your battle against peripheral neuropathy!—he tells me he cannot fathom aches or pinches or the searing scourge of peripheral neuropathy that keep millions of people awake at night or hooked on pills. He was born with a rare neurological condition called congenital insensitivity to pain, and for 36 years he has hovered at or near a 1 on the pain scale. He’s 5' 8?, with glasses and thinning brown hair, and he has a road map of scars across his body, mostly hidden beneath a T-shirt bearing the partial crests of Batman, Green Lantern, Flash, and Superman. Because he never learned to avoid injury, which is the one thing pain is really good for, he gets injured a lot. When I ask how many bones he’s broken, he lets out a quick laugh.

“Oh gosh. I haven’t actually done the count yet,” he says. “But somewhere probably around 70 or 80.” With each fracture, he didn’t feel much of anything—or even notice his injury at all. Whether he saw a doctor depended on how bad the break appeared to be. “A toe or a finger, I’d just take care of that myself,” he says, wagging a slightly bent index finger. “Duct tape.”

What about something more serious? Pete pauses for a moment and recalls a white Washington day a few years ago. “We had thick snow, and we went inner-tubing down a hill. Well, I did a scorpion, where you take a running start and jump on the tube. You’re supposed to land on your stomach, but I hit it at the wrong angle. I face-planted on the hill, and my back legs just went straight up over my head.” Pete got up and returned to tubing, and for the next eight months he went on as usual, until he started noticing the movement in his left arm and shoulder felt off. His back felt funny too. He ended up getting an MRI. “The doctor looked at my MRI results, and he was like, ‘Have you been in a car accident? About six months ago? Were you skydiving?’ ”

“I haven’t done either,” Pete replied.

The doctor stared at his patient in disbelief. “You’ve got three fractured vertebrae.” Pete had broken his back.

Throughout his body today, Pete has a strange feeling: “a weird radiating sensation,” as he describes it, an overall discomfort but not quite pain as you and I know it. He and others born with his condition have been compared to superheroes—indomitable, unbreakable. In his basement, where the shelves are lined with videogames about biologically and technologically enhanced soldiers, there is even a framed sketch of a character in full body armor, with the words painless pete. But Pete knows better. “There’s no way I could live a normal life right now if I could actually feel pain,” he says. He would probably be constrained to a bed or wheelchair from all the damage his body has sustained.

His wife, Jessica, joins us at the café. She is petite and shy, with ice-blue eyes traced in black eyeliner. When I ask her what it’s like to live with a man who feels no pain, she sighs. “I worry about him all the time.” She worries about him working with his power tools in the basement. She worries about him cooking over a grill. She worries about bigger things too. “If he has a heart attack, he won’t be able to feel it,” she says. “He’ll rub his arm sometimes, and I freak out: ‘Are you OK?’ ” She looks over at Pete, who chuckles. “He thinks it’s funny,” she says. “I don’t think it’s funny.”

Pam Costa lives an hour and a half from Pete, outside Tacoma, Washington, and she occupies the other end of the pain scale. Costa is 51 and girlish, with shoulder-length auburn hair and a wide smile. At first glance, she has the rosy flush of someone who has spent time in the sun. But if you look closer at her cheeks, her feet, and her legs, they bear traces of a deeper shade of plum. Everywhere there is plum, there is pain. She was born with a rare neurological condition called erythromelalgia, otherwise known as man on fire syndrome, in which inflamed blood vessels throughout her body are constant sources of pain. Because the inflammation is exacerbated by physical contact, stress, and even the smallest elevation in surrounding temperature, Costa lives her life with great care. She wears loose-fitting clothes because fabric feels like a blowtorch against her skin. She sleeps with chilled pillows because the slightest heat makes her limbs feel like they are crackling. “Have you ever been out in the bitter, bitter cold, where your feet were ice?” she asks me. “Almost frostbite? Then you warm them up and it burns? That burning sensation: That is what it feels like all the time.”

Costa begins and ends every day with a 50-milligram dose of morphine, just as she has for the past 35 years. And there are other pills. “I pop a lot of these,” Costa, barefoot, tells me as she opens her medicine cabinet and twists open a jumbo bottle of Aleve. The directions say not to exceed three pills a day, and though it is early afternoon and this is her fourth such pill in the past five hours, she expects to take a couple more before the day’s over. She is an instructor of psychology at a local college and the mother of a teenage daughter, and she agonizes over her morphine dependency. “I have a drive to stop—to just not be dependent on opiates,” she says. But without her medication, her pain becomes unbearable.

A year ago she went to Las Vegas for a work conference, and the plane home got stuck on the tarmac with a mechanical issue. There was no air-conditioning, and the temperature started to rise. “An hour and a half in, people are taking off their clothes, fanning themselves,” she says. With the plane 20 feet from the gate and her skin throbbing, Costa persuaded a flight attendant to let her off. “I was so afraid I was going to pass out or throw up or get to where I was immobilized.” When the doors finally opened, she fled the plane, and she sat in the airport dousing herself with Smartwater.

Costa and Pete have never met. Their daily negotiations with the world could not be more different. Yet scientists have uncovered a genetic link that binds their mirror-image conditions together, and pharmaceutical researchers are now deep into clinical trials on a new type of drug that seeks to mimic Pete’s condition to treat Costa and others living with chronic pain. Such a drug would not merely dull inflammation the way ibuprofen does or alter our neurochemistry the way opioids do: It would block the transmission of pain signals from cell to cell without ruinous side effects on the brain or body.

Continued at:

https://www.wired.com/2017/04/the-cure-for-pain/