Georgia girl with rare disease doesn't know pain

<p>Ashlyn Blocker's 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.</p><p>In the school cafeteria, teachers put ice in Ashlyn's chili. If her lunch is scalding hot, she'll gulp it down anyway.</p><p>On the playground, a teacher's aide watches Ashlyn from within 15 feet always, keeping her off the jungle gym and giving chase when she runs. If she takes a hard fall, Ashlyn won't cry.</p><p>Each day after recess, a nurse examines Ashlyn's face and elbows for scrapes, washes sand from her feet and looks for dirt in her eyes. If she's scratched or cut or has sores, Ashlyn never complains.</p><p>"Because I can't feel my boo-boos," the plucky 5-year-old explains through a row of missing baby teeth she knocked out without a tear.</p><p>Ashlyn is among a tiny number of people in the world known to have congenital insensitivity to pain with anhidrosis, or CIPA _ a rare genetic disorder that makes her unable to feel pain.</p><p>"Some people would say that's a good thing. But no, it's not," says Tara Blocker, Ashlyn's mother. "Pain's there for a reason. It lets your body know something's wrong and it needs to be fixed. I'd give anything for her to feel pain."</p><p>The untreatable disease also makes Ashlyn incapable of sensing extreme temperatures _ hot or cold _ disabling her body's ability to cool itself by sweating. Otherwise, her senses are normal.</p><p>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.</p><p>That's 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.</p><p>Essentially, it short-circuits the body's alarm system. Nerves that carry other sensations _ such as touch, pressure and vibration _ aren't affected.</p><p>"There are all kinds of different nerve cells that help us feel different sensations," says Dr. Felicia Axelrod, a professor of pediatrics and neurology at New York University School of Medicine. "You can have one sense removed, just like you can lose your hearing but still smell things."</p><p>Specialists such as Axelrod don't 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 world's only association for CIPA patients, called Tomorrow. It has 67 members.</p><p>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.</p><p>The doctor put drops in Ashlyn's eye to stain any particles that might be irritating it. The infant smiled and bounced in her mother's lap while the dye revealed a massive scratch across her cornea.</p><p>"They put the dye in her eye and I remember the look of puzzlement on all their faces," Ashlyn's mother says. "She was not fazed by it by any means."</p><p>Tests by a geneticist led to Ashlyn's diagnosis. To have the disorder, Ashlyn had to inherit two copies of the mutated gene _ one from each parent.</p><p>Ashlyn's father, a telephone technician, and mother, who holds a degree in physical education, were largely on their own in learning to cope with their daughter's strange indifference to injury.</p><p>Many things they couldn't anticipate. Ashlyn's 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.</p><p>Then Ashlyn's teeth started coming out, wrenched free when she fell against a set of drawers, dove head-first into a toy box and tried to open a ketchup bottle with her mouth.</p><p>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.</p><p>Her first serious injury came at age 3, when she laid her hand on a hot pressure washer in the back yard. Ashlyn's mother found her staring at her red, blistered palm.</p><p>"That was a real reality check for me. At that point I realized we're not going to be able to stop all the bad stuff," Tara Blocker says. "She needs a normal life, with limitations."</p><p>Ashlyn's pediatrician, Dr. Jack Collipp, praises her parents for "not being as some people might _ belligerent or angry that God has cursed them with this. And that is going to be very good for Ashlyn as time goes by."</p><p>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 Ashlyn's mother discussed having her wear a helmet on the playground, but decided it would look too curious to her classmates.</p><p>And when teacher's aide Sue Price puts ice in Ashlyn's chili at lunch, her dozen classmates get ice in theirs too.</p><p>"They know Ashlyn can't feel when something hurts her," Price says. The other children have been understanding, she says, though one boy in a different class got a little too curious.</p><p>"He poked her in the arm with a stick and said, `Can you feel that?'" Price says. "I pulled him aside and said, `We're not going to experiment with Ashlyn.'"</p><p>Ashlyn's parents worry about future complications. Will she resume biting her lips and tongue when her permanent teeth come? Joint problems such as arthritis could develop early because of undetected sprains and leg injuries, as Ashlyn won't even limp if she's hurt.</p><p>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.</p><p>"It's a lot to take in. It opens your eyes to things you wouldn't normally think about," says Tara Blocker, who's also trying to help Ashlyn understand. "If she sees blood, she knows to stop. There's only so much you can tell a 5-year-old."</p>

http://accesswdun.com/article/2004/10/157660