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Mutation may shed light on pain resistance

November 18, 2010 12:00:00 AM PST
Just like your car or a bank vault, your body comes equipped with a high-end warning system. Pain tells us something is wrong. But what if that warning never worked at all? A strange genetic mutation may help millions with chronic pain. Someone impervious to pain may sound like something straight out of the comic books, but these people do exist, about 40 worldwide.

It's a mystery, but researchers hope studying their condition will help them treat others who suffer from pain every day.

Ashlyn Blocker grew into a precocious toddler with no fear.

"She would fall down or run into something and not even be phased by it," said John Blocker, Ashlyn's father.

Soon the Blocker family realized their tough little girl was a little too tough.

"She was in her high chair and she literally put her pointer finger in her mouth and just ripped the skin right off," said Tara Blocker, Ashlyn's mother. "She wasn't upset, she wasn't crying."

That accident led to another: "I was not looking where I was going and then I crashed and then my ankle got broken. I just kept on going."

She has congenital insensitivity to pain. A pair of genetic mutations short-circuited the pain signals that go to Ashlyn's brain. She's one of just 20 documented cases in the U.S.

"We can really learn from individuals like this child, what it really means to be at the opposite end of feeling essentially no pain," said Dr. Roland Staud, University of Florida.

Ashlyn is helping researchers study pain like never before. They want to know if there's a "master switch" for pain and how to turn it on and off. Does a lack of pain impact emotions, and can that person still show compassion toward others? But most importantly, this little girl may hold the key for the nation's 70 million chronic-pain patients.

"If they could just have one molecule like Ashlyn has, they would have the perfect painkiller, and i'm thinking that's pretty 'Wow,'" said Tara Blocker.

Playing video games instead of actual sports is the only way to keep her safe.

"We want Ashlyn to have the best life possible and we're going to do everything under our power to ensure that," said Tara. "We're blessed to have her, there's a reason for her."

Doctors have identified Ashlyn's gene mutation and may be able to tweak it using a form of gene therapy, but it's unclear if they would be able to create the right balance.

Ashlyn's parents say they would never put her through the process.

ALL PAIN, NO GAIN: Bonica's Management of Pain, 3rd Edition states that, "chronic pain has several different meanings in medicine." It continues by adding that the distinction between acute and chronic pain traditionally has relied upon an arbitrary interval of time from onset; the two most commonly used markers being 3 months and 6 months since the initiation of pain, though some theorists and researchers have placed the transition from acute to chronic pain at 12 months. According to Pain Management: A Disciplinary Approach, others apply acute to pain that lasts less than 30 days, chronic to pain of more than six months duration, and subacute to pain that lasts from one to six months. A popular alternative definition of chronic pain, involving no arbitrarily fixed durations is "pain that extends beyond the expected period of healing."

STICKS AND STONES MAY BREAK MY BONES, BUT I DON'T FEEL A THING: When most of us are hurt, the body sounds an alarm . . . but that feeling is foreign to Ashlyn, Blocker who suffers from what's called congenital insensitivity to pain with anhidrosis, also known as CIPA, a rare genetic disorder affecting the nerve endings. She has no sense of extreme temperatures, and she can't feel pain -- though she can feel some non-painful sensations. At least 100 people worldwide are known to have CIPA and repeatedly suffer severe injuries, burns, cuts and fractures. Family photos of Ashlyn reveal a swollen lip occurring after she mistakenly bit it, and a burned hand stemming from an appliance she did not know was extremely hot. On several occasions she's also knocked out teeth, which in the long run may have been a kind of blessing in disguise.

AN AVERAGE DAY FOR A NOT SO AVERAGE GIRL: At school, precautions are in place to keep Ashlyn injury free. Since the same condition makes her unable to sense outside temperature, she can't sweat. Therefore, there's always a cold bottle of water nearby. After recess, Ashlyn reports to the nurse's office, where ABC News reported they found the nurse looking for sand in her eyes. Her body got inspected from head to toe, and rid of residual sand that could have caused painful abrasions she wouldn't feel. In a handful of cases, CIPA has proven fatal, because those afflicted are unable to feel symptoms of fever or life-threatening infections like appendicitis. However, every case is different. So for Ashlyn, sadly, there's no telling what the future holds.

For More Information, Contact:
University of Florida Department of Medicine
Gainesville, FL
(352) 392-3261


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