Rare disease makes girl unable to feel pain

[jamotto]

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PATTERSON, Ga. - Ashlyn BlockerÔÇÖs parents and kindergarten teachers all describe her the same way: fearless. So they nervously watch her plunge full-tilt into a childhood deprived of natural alarms.

In the school cafeteria, teachers put ice in 5-year-old AshlynÔÇÖs chili. If her lunch is scalding hot, sheÔÇÖll gulp it down anyway.

On the playground, a teacherÔÇÖs aide watches Ashlyn from within 15 feet, keeping her off the jungle gym and giving chase when she runs. If she takes a hard fall, Ashlyn wonÔÇÖt cry.

Ashlyn is among a tiny number of people in the world known to have congenital insensitivity to pain with anhidrosis, or CIPA ÔÇö a rare genetic disorder that makes her unable to feel pain.

ÔÇ£Some people would say thatÔÇÖs a good thing. But no, itÔÇÖs not,ÔÇØ says Tara Blocker, AshlynÔÇÖs mother. ÔÇ£PainÔÇÖs there for a reason. It lets your body know somethingÔÇÖs wrong and it needs to be fixed. IÔÇÖd give anything for her to feel pain.ÔÇØ

The untreatable disease also makes Ashlyn incapable of sensing extreme temperatures ÔÇö hot or cold ÔÇö disabling her bodyÔÇÖs ability to cool itself by sweating. Otherwise, her senses are normal.

Ashlyn can feel the texture of nickels and dimes she sorts into piles on her bedroom floor, the heft of the pink backpack she totes to school and the embrace of a hug. She feels hunger cravings for her favorite after-school snack, pickles and strawberry milk.

ThatÔÇÖs because the genetic mutation that causes CIPA only disrupts the development of the small nerve fibers that carry sensations of pain, heat and cold to the brain.

ÔÇ£There are all kinds of different nerve cells that help us feel different sensations,ÔÇØ says Dr. Felicia Axelrod, a professor of pediatrics and neurology at New York University School of Medicine. ÔÇ£You can have one sense removed, just like you can lose your hearing but still smell things.ÔÇØ

Specialists such as Axelrod donÔÇÖt know how many people suffer from CIPA. As director of a treatment center that specializes in CIPA and related disorders, Axelrod has 35 patients with the disease on file. Only 17 of them are from the United States. Japan has the worldÔÇÖs only association for CIPA patients. It has 67 members.

In Patterson, a rural town of 800 people in southeast Georgia, John and Tara Blocker had no idea the disorder existed before they took Ashlyn to the doctor for a bloodshot, swollen left eye when she was 8 months old.

The doctor put drops in AshlynÔÇÖs eye to stain any particles that might be irritating it. The infant smiled and bounced in her motherÔÇÖs lap while the dye revealed a massive scratch across her cornea.

ÔÇ£They put the dye in her eye and I remember the look of puzzlement on all their faces,ÔÇØ AshlynÔÇÖs mother says. ÔÇ£She was not fazed by it by any means.ÔÇØ

Tests by a geneticist led to AshlynÔÇÖs diagnosis. To have the disorder, Ashlyn had to inherit two copies of the mutated gene ÔÇö one from each parent.

AshlynÔÇÖs father, a telephone technician, and mother, who holds a degree in physical education, were largely on their own in learning to cope with their daughterÔÇÖs strange indifference to injury.

Family photos reveal injuries

Many things they couldnÔÇÖt anticipate. AshlynÔÇÖs baby teeth posed big problems. She would chew her lips bloody in her sleep, bite through her tongue while eating, and once even stuck a finger in her mouth and stripped flesh from it.

Family photos reveal a series of these self-inflicted injuries. One picture shows Ashlyn in her Christmas dress, hair neatly coifed, with a swollen lip, missing teeth, puffy eye and athletic tape wrapped around her hands to protect them. She smiles like a little boxer who won a prize bout.

Her first serious injury came at age 3, when she laid her hand on a hot pressure washer in the back yard. AshlynÔÇÖs mother found her staring at her red, blistered palm.

ÔÇ£That was a real reality check for me. At that point I realized weÔÇÖre not going to be able to stop all the bad stuff,ÔÇØ Tara Blocker says. ÔÇ£She needs a normal life, with limitations.ÔÇØ

So when Ashlyn goes to her kindergarten class at Patterson Elementary School, she gets daily check-ups with school nurse Beth Cloud after recess. Cloud and AshlynÔÇÖs mother discussed having her wear a helmet on the playground, but decided it would look too odd.

And when teacherÔÇÖs aide Sue Price puts ice in AshlynÔÇÖs chili at lunch, her dozen classmates get ice in theirs too.

Infections with no outward symptoms also concern them. They heard of a case where a child with CIPA had appendicitis that went untreated until her appendix burst.

ÔÇ£ItÔÇÖs a lot to take in. It opens your eyes to things you wouldnÔÇÖt normally think about,ÔÇØ says Tara Blocker. ÔÇ£If she sees blood, she knows to stop. ThereÔÇÖs only so much you can tell a 5-year-old.ÔÇØ

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[XOR]

this is the kind of thing nanotechnology should be able to fix... if only it was complete *sigh*

[jamotto]

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Originally posted by XOR:

this is the kind of thing nanotechnology should be able to fix... if only it was complete *sigh*

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Very true, I think nanotechnology would be ideal here. I hope they can introduce the tech soon.