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For researchers, girl's pain-free life a study in genetic mutation
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Ashlyn Blocker was feeling no pain.
For the 11-year-old Georgia girl, it is a way of life. She was born with a condition called congenital insensitivity to pain that means she will never feel life's scrapes and bruises, at least not in a normal sense.
Ashlyn is a patient of Dr. Roland Staud, a pain expert and professor in the UF College of Medicine. After six years of collaborative study with geneticists, neurologists, pediatricians and clinical psychologists, Staud has identified two genetic mutations that have short-circuited the pain signals that go to Ashlyn's brain.
Insensitivity to pain is a rare condition, with fewer than 20 documented cases in the United States. That makes Ashlyn's case "one in six billion," according to her parents, John and Tara Blocker.
The Blockers live in Patterson, Ga., a town of about 800 not far from Waycross. They have been dealing with Ashlyn's condition for years, struggling to keep their daughter safe.
When the couple first brought Ashlyn home from the hospital, they thought they'd been blessed with a happy baby. She didn't cry when she was hungry. Not a whimper when she acquired a severe diaper rash.
It was an apparently painful eye infection that brought the Blockers to a local opthalmologist, but Ashlyn sat in her mother's lap, smiling and cooing, as stinging drops were applied to her eye.
The doctor diagnosed a severe corneal abrasion. It was increasingly apparent that Ashlyn wasn't feeling pain as any other child would.
"We've always known on paper that there was something different about her, but it wasn't until Dr. Staud found something concrete that we knew what this was," said Tara Blocker. "When we found out what gene it was, we were so excited!"
It was a four-year process to identify the genetic mutations responsible for Ashlyn's condition. The gene, called SCN9A, contains the "message" to produce a molecule that acts as a battery to power pain-signaling nerve cells so they can fire impulses.
Mutations that lead to overactivity of that molecule lead to severe pain, whereas those that cause the molecule not to function lead to an inability to feel pain.
"If you don't have this gene it's like a faint whisper in the wind," Staud said. "Nothing much goes up the nerve, and you don't feel anything."
Staud's findings appear in the European Journal of Pain.
In Ashlyn's case, the mutations decreased, but did not eliminate, her sensitivity to pain. She can feel a touch or a tickle, but cannot feel a painful pinch or extremes of heat or cold.
"There is nothing to signal her that it is at a dangerous level," Staud explained.
"Pain sensitivity is your friend," the researcher said. "You will have a lot of problems if you do not experience pain. It is essentially a gift, a warning signal to help you avoid potentially damaging actions."
Despite her watchful parents, Ashlyn has suffered her share of injuries in childhood.
Mostly it has been bumps and bruises, her father says, but when she was three, she severely burned her hand by touching the motor of a pressure washer he had rented.
She broke an ankle riding her bike and it wasn't until a couple of days later that her parents noticed the ankle was all swollen up.
"Then right before she was supposed to get her boot off, she broke her other ankle on the metal brace," Blocker said.
Ashlyn's inability to feel pain has set her apart from other children emotionally, as well.
Staud asks, "What would a child feel if she fell off a swing and started crying?"
Because she feels no pain, Ashlyn wouldn't understand why another child was crying. That sense of empathy is missing.
Staud said he and other researchers have considered the possibility of gene therapy in cases such as Ashlyn's. But while scientists could potentially manipulate the genes to allow Ashlyn and others like her to feel pain more readily, they have to weigh the possibility that they might, in the process, set off other conditions such as epilepsy or a hypersensitivity to pain.
"If we consider gene therapy, we have to be careful not to flip the switch and cause an enormous amount of pain," Staud said. "We must do other studies first to see if treatments of this type are possible."
Staud describes the research he and others are doing as "an experiment of nature that we are observing."
Pain, he emphasizes, is an experience that makes our lives richer.
"Life is about the contrast of adversity and pleasure," he said. "Ashlyn tries to fit in, but hers is a different life."
Link to the complete story
**broken link removed**
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Ashlyn Blocker was feeling no pain.
For the 11-year-old Georgia girl, it is a way of life. She was born with a condition called congenital insensitivity to pain that means she will never feel life's scrapes and bruises, at least not in a normal sense.
Ashlyn is a patient of Dr. Roland Staud, a pain expert and professor in the UF College of Medicine. After six years of collaborative study with geneticists, neurologists, pediatricians and clinical psychologists, Staud has identified two genetic mutations that have short-circuited the pain signals that go to Ashlyn's brain.
Insensitivity to pain is a rare condition, with fewer than 20 documented cases in the United States. That makes Ashlyn's case "one in six billion," according to her parents, John and Tara Blocker.
The Blockers live in Patterson, Ga., a town of about 800 not far from Waycross. They have been dealing with Ashlyn's condition for years, struggling to keep their daughter safe.
When the couple first brought Ashlyn home from the hospital, they thought they'd been blessed with a happy baby. She didn't cry when she was hungry. Not a whimper when she acquired a severe diaper rash.
It was an apparently painful eye infection that brought the Blockers to a local opthalmologist, but Ashlyn sat in her mother's lap, smiling and cooing, as stinging drops were applied to her eye.
The doctor diagnosed a severe corneal abrasion. It was increasingly apparent that Ashlyn wasn't feeling pain as any other child would.
"We've always known on paper that there was something different about her, but it wasn't until Dr. Staud found something concrete that we knew what this was," said Tara Blocker. "When we found out what gene it was, we were so excited!"
It was a four-year process to identify the genetic mutations responsible for Ashlyn's condition. The gene, called SCN9A, contains the "message" to produce a molecule that acts as a battery to power pain-signaling nerve cells so they can fire impulses.
Mutations that lead to overactivity of that molecule lead to severe pain, whereas those that cause the molecule not to function lead to an inability to feel pain.
"If you don't have this gene it's like a faint whisper in the wind," Staud said. "Nothing much goes up the nerve, and you don't feel anything."
Staud's findings appear in the European Journal of Pain.
In Ashlyn's case, the mutations decreased, but did not eliminate, her sensitivity to pain. She can feel a touch or a tickle, but cannot feel a painful pinch or extremes of heat or cold.
"There is nothing to signal her that it is at a dangerous level," Staud explained.
"Pain sensitivity is your friend," the researcher said. "You will have a lot of problems if you do not experience pain. It is essentially a gift, a warning signal to help you avoid potentially damaging actions."
Despite her watchful parents, Ashlyn has suffered her share of injuries in childhood.
Mostly it has been bumps and bruises, her father says, but when she was three, she severely burned her hand by touching the motor of a pressure washer he had rented.
She broke an ankle riding her bike and it wasn't until a couple of days later that her parents noticed the ankle was all swollen up.
"Then right before she was supposed to get her boot off, she broke her other ankle on the metal brace," Blocker said.
Ashlyn's inability to feel pain has set her apart from other children emotionally, as well.
Staud asks, "What would a child feel if she fell off a swing and started crying?"
Because she feels no pain, Ashlyn wouldn't understand why another child was crying. That sense of empathy is missing.
Staud said he and other researchers have considered the possibility of gene therapy in cases such as Ashlyn's. But while scientists could potentially manipulate the genes to allow Ashlyn and others like her to feel pain more readily, they have to weigh the possibility that they might, in the process, set off other conditions such as epilepsy or a hypersensitivity to pain.
"If we consider gene therapy, we have to be careful not to flip the switch and cause an enormous amount of pain," Staud said. "We must do other studies first to see if treatments of this type are possible."
Staud describes the research he and others are doing as "an experiment of nature that we are observing."
Pain, he emphasizes, is an experience that makes our lives richer.
"Life is about the contrast of adversity and pleasure," he said. "Ashlyn tries to fit in, but hers is a different life."
Link to the complete story
**broken link removed**
