Incredible Health

The girl who can't feel pain
Ashlyn Blocker was born with a rare condition called congenital insensitivity to pain. Simply put, she can't feel pain, and she is one of a very few cases ever to be reported. The New York Times recently reported on Ashlyn, and had the opportunity to speak with her in 2010

Baby Ashlyn

Ashlyn was born with congenital insensitivity to pain, a rare condition that is caused by a genetic mutation. Ashlyn's specific mutation has a twist to it because, although it decreased her pain sensitivity so that she can never feel pain, it did not abolish it. This allows her to feel warmth and someone's touch. 

She didn't cry when she was born, nor when she was teething, hungry or had wet her diaper. The only time she ever cried was when her ear drum ruptured when she was 3 years old. 

“She was eating her cereal at the kitchen table and she shrieked," said her mother Tara Blocker. 

"Her ear drum had ruptured and she had blood coming out of her ear, so she had felt the pressure from that. That’s the first time we ever got any kind of reaction.”

Congenital insensitivity to pain is incurable and there are no treatments for it. There are only 45 to 50 reported cases.

(Tara Blocker)

Ashlyn shows effects of pain insensitivity

Without the ability to feel pain, Ashlyn would chew on her bottom lip while she slept, often causing severe swelling. 

Other common injuries patients with congenital insensitivity to pain suffer when they are young include biting off the tip of their tongue, damaging their eye, or burning themselves on a hot surface like a stove. 

In Ashlyn's case, she severely burned her hand on the motor of a pressure washer when she was 2 years old. The burn didn't faze her whatsoever, but it brought her mother to tears to see her daughter injured. 

As her mother held her crying, Ashlyn tried to console her, saying, "It's going to be OK mommy."


(Tara Blocker)

Ashlyn celebrates Christmas

The toughest years for Ashlyn were when she was a toddler. She was teething, learning to walk and still feeling her way through the world. 

But, while Ashlyn dealt with the bumps, bruises and burns, her parents had to deal the unnerving circumstance of not knowing why she didn't know to cry when those things happened. 

"We kept going to the pediatrician, especially when she had that severe diaper rash," Tara said. "And they just keep passing it off as, 'You just have a happy baby.' It was so awful."

The Blocker family began their long road to diagnosis in 2004 when a geneticist told them she had congenital insensitivity to pain. Tara had never heard of it before, but she and her husband were glad to finally know what they and their daughter were dealing with.  

(Tara Blocker)

Researchers take a blood sample for analysis

In 2004, Dr. Roland Staud invited Ashlyn and her family to come to the University of Florida to conduct a study to learn more about her rare condition. 

His team performed preliminary tests, which included drawing blood from both Ashlyn and her family to get DNA samples. 

Five years later in 2009, the Florida University team determined that Ashlyn had two mutations of the SCN9A gene, which shut off a molecule involved in directing nerve impulses to the brain.

(Tara Blocker)

Ashlyn tests her sensitivity to touch

Among the many physical, psychological, genetic and neurological tests Dr. Staud's team have conducted on Ashlyn, they have tested her sensitivity to touch, temperature and vibrations. 

Much like her ability to feel warmth and someone's touch, she was able to feel the vibrations on her forearm despite her pain insensitivity. 

The SCN9A gene that causes Ashlyn's condition are involved in the process of sending pain messages, or nerve impulses, to the brain. Mutations of that gene can both cut that function off, causing pain insensitivity, as well as become overactive, causing hypersensitivity. Consequently, Dr. Staud and the Blocker family have decided that they won't pursue gene therapy in Ashlyn to avoid potentially triggering the gene to become overactive. 

“I wouldn't ever want to take the chance of toying with the gene and have her going from feeling no pain to feeling extreme pain,” said her mother Tara.


(Tara Blocker)

Ashlyn takes an MRI

On a trip to the University of Florida for testing, Dr. Staud gave Ashlyn multiple MRIs to see how her brain reacted to different tests. 

One test applied heat to her feet and ask her to rate what she felt, which is similar to other tests she has undergone in the previous six years.

"She can tell hot from cold. She just can't tell if it's too hot or too cold. She doesn't have that mechanism," said her mother Tara.

Also during their most recent battery of tests, Dr. Staud's team tested her sense of smell, which her family only noticed she didn't have until just a few months ago. 

"She has so many learned behaviors to certain circumstances that we were completely fooled for 10 years," Tara said. "But once we found out that this gene also carries the loss of smell, we had our own science experiment at our kitchen table."

Ashlyn was blindfolded and asked to identify different smells, including spaghetti sauce, pickles and orange juice. She couldn't smell anything. 

Dr. Staud's later smell test confirmed it and, although it was fun and games at the kitchen table, when she couldn't identify any smells at the doctor's office, Tara said she seemed to get a little upset. 

(Tara Blocker)

Ashlyn with a broken leg

In 2009, Ashlyn fractured her ankle in a bike accident. The only symptom she presented with was a swollen ankle two days later. 

Although most of Ashlyn's injuries are minor, because she doesn't recognize that she has been injured, she is opened up to other dangers like infection. That is why her parents requested that she be put in a boot after fracturing her ankle because they were worried she may develop an infection if she suffered pressure sores and didn't notice. 

"Even to this day, we're pretty much Ashyln's pain mechanism, and we'll continue to be as long as we need to be," said her mom Tara.

The girl who can't feel pain

Ashlyn Blocker was born with a rare condition called congenital insensitivity to pain. Simply put, she can't feel pain, and she is one of a very few cases ever to be reported. The New York Times recently reported on Ashlyn, and had the opportunity to speak with her in 2010

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