The Purpose of Pain

By A. Chris Gajilan

(CNN) -- When you first meet 4-year-old Roberto Salazar, you can't help but notice his unwavering smile and constant laughter. By all accounts, he's a very happy boy.
It is only when he rams his head violently into walls or plays a little too roughly with a schoolmate, all the while smiling, that you are reminded that he suffers from an incredibly rare genetic disorder.
Roberto is one of 17 people in the United States with "congenital insensitivity to pain with anhidrosis," referred to as CIPA by the few people who know about it.
Roberto was born in July 2001, becoming Luis' and Juan's little brother. As a newborn, his parents thought he was the perfect baby.
"Roberto was wonderful. He never cried. He would sleep 23 out of 24 hours a day. He never cried to eat, never cried that his diaper is itching," said his mother, Susan Stingley-Salazar.
At 3 months, things abruptly changed. Roberto refused to eat. He was rapidly losing weight. His parents tried desperately to find ways to "force a child to eat that doesn't want to eat," Stingley-Salazar said.
First they tried to feed him with an eyedropper. Then a feeding tube was attached to his stomach at 8 months.
Other abnormalities quickly surfaced. Roberto was severely susceptible to heatstroke on hot summer days. His parents soon noticed he did not sweat.
"You can't carry Roberto because he sucks your heat from your body. You're hot, sweaty. His body can't sweat like yours so he's just absorbing all of your heat," Stingley-Salazar said.
His family was shocked when Roberto started teething. He gnawed on his own tongue, lips and fingers to the point of mutilation.
"If you could imagine when you bite your tongue how bad it hurts. At one point, you couldn't even distinguish that his tongue was his tongue," Stingley-Salazar said.
Stingley-Salazar, a registered nurse with a degree in molecular biology, took Roberto to see more than 60 physicians in the boy's first few years. She researched his symptoms on the Internet every night. She e-mailed any specialist she could find.
She came up with very few answers until she contacted Dr. Felicia Axelrod of the New York University Dysautonomia Treatment and Evaluation Center.
Axelrod has studied this family of "no-pain" diseases for more than 35 years. These genetic disorders affect the autonomic nervous system -- which controls blood pressure, heart rate, sweating, the sensory nerve system and the ability to feel pain and temperature.
Stingley-Salazar's first reaction: "There is somebody out there who actually knows what we've been going through, you know, the hell we've been living for the last two-and-a-half years."
CIPA is the most severe and fatal type of the seven types of hereditary sensory and autonomic neuropathy, or HSAN. Overheating kills more than half of all children with CIPA before age 3, Stingley-Salazar said.
According to Axelrod, levels of pain vary.
"For some children it's a mild degree such as breaking a leg, they'll get up and walk on the leg. They feel that something is uncomfortable but they keep on moving," she said. "For other children, the pain loss is so severe that they can injure themselves repetitively and actually mutilate themselves because they don't know when to stop."
All HSAN disorders are recessive genetic disorders -- both parents have to carry the genetic mutation in order to pass it on to a child. But there is less than a 1-in-4 chance that the child will develop it.
Neither of Roberto's older brothers has the disorder.
A more common HSAN condition is familial dysautonomia, or FD. There are about 500 cases of FD in the United States, Axelrod said.
The first sign of FD is a child's inability to suck properly followed by delayed milestones -- these children walk and speak later.
Often, FD patients endure severely dry eyes because they are unable to produce tears.
Also, part of this sensory disorder is difficulty "telling where they are in space," Axelrod said.
The minor effect is constantly bumping into things. The major effect is that 80 percent of these kids suffer curvature of the spine because they have no concept of posture.
"The hardest thing growing up with FD is that sometimes your balance can be off. Also when you get busy, like when your blood pressure drops, I faint. It's scary for people who don't know what to do," 15-year-old Perry Goldberger said.
Perry was diagnosed when she was 2 weeks old. She, too, suffers from common ailments of HSAN -- she gets liquids through a stomach tube; she can't distinguish between hot and cold; she doesn't feel pain.
Perry has learned to handle her daily medical regimen: During the day she takes nebulizer treatments for her lungs and seven tube feedings. At night she must use an oxygen machine to help her breathe and must place a moisture chamber around her eyes while she sleeps.
"This is my daily schedule that I take every single day. You get used to it after a while," she said.
Her mother, Laurie Goldberger, said her family takes it one day at a time and is teaching Perry a certain level of independence.
"Now at 15, she's gotten very responsible and understands it and she knows she has to take it. So at school she does her own medicine," Goldberger said.
Axelrod points to Perry as an example of the huge strides made in HSAN disorders.
"Forty years ago, a child with FD had a 50 percent probability of reaching the age of 5," she said. "Today, a child born with FD would have a 50 percent probability of reaching the age of 40."
PATTERSON, Georgia (AP) -- 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. In the school cafeteria, teachers put ice in 5-year-old Ashlyn's chili. If her lunch is scalding hot, she'll gulp it down anyway.
On the playground, a teacher's 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 won't cry.
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.
"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."
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.
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.
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.
"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."

Number afflicted unknown

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. 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 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.
"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 phased by it by any means."
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.
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.
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.
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. Ashlyn's mother found her staring at her red, blistered palm.
"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."
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 odd.
And when teacher's aide Sue Price puts ice in Ashlyn's 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.
"It's a lot to take in. It opens your eyes to things you wouldn't normally think about," says Tara Blocker. "If she sees blood, she knows to stop. There's only so much you can tell a 5-year-old."
Rare nerve disorder
leaves girl pain-free

Condition results in numerous injuries

Jim Mone / AP
Gabby Gingras enjoys a swing in her backyard in Elk River, Minn., on March 30. The three-year-old has a nerve disorder that keeps pain sensations from reaching her brain, prompting her family to give her goggles to prevent her from poking and scratching her eyes.

ELK RIVER, Minn. - Gabby Gingras was about a day old when a nurse pricked her heel to draw blood — a sting that makes most newborns howl. Gabby slept through it.
What a good baby, her parents thought.
When Gabby teethed, she gnawed on her fingers until they were bloody. One day, as her father massaged her gums with his finger, she bit him, hard. When he reflexively yanked his finger back, one of Gabby’s teeth came with it. She didn’t cry.

When it comes to pain, she never does.
An extremely rare nerve disorder called hereditary sensory autonomic neuropathy Type 5 keeps pain sensations from reaching Gabby’s brain. Gabby, now 3, simply does not feel injuries that would make others cry out.
That might not sound so bad to anyone who has ever stubbed a toe. But it’s ruinous for Gabby’s health.
Pain is what keeps a child from poking her finger straight into her eye, as Gabby has done, repeatedly. Pain is why we limp to favor a twisted ankle, so it can heal. Pain teaches children to recoil from a hot stove.
When Gabby was teething, “she would chew on her fingers until they were bloody,” her father, Steve Gingras, recalled. “She would chew on her tongue like bubble gum.”
Without the pain that could prevent it, Gabby has injured herself over and over.
Injury after injury
She broke several teeth by chewing on plastic toys before her parents knew what her condition was. The ones that didn’t break were pulled or lost when doctors removed part of a broken jaw that had been weakened by a bacterial infection.
Jim Mone / AP
Steve Gingras places drops in the eyes of three-year-old daughter Gabby.
As a toddler, Gabby poked and scratched her eyes, oblivious to the damage she was doing. Her parents worked with her doctors, frantic to get her to stop. Nothing worked until Steve, ignoring a doctor who told him they wouldn’t work, bought a pair of ordinary swimming goggles.
Gabby wears her “glasses” 24 hours a day, and her right eye has begun to heal now that she keeps her fingers out of it.
But the goggles were too late for her left eye. Cataracts ruined it, a side effect of medication Gabby took for the scratches on her cornea. It has swelled to about twice the size of her right eye, where her vision has been measured at 20-300.
Gabby’s condition baffled her doctors before it was diagnosed.
Parents search for answers
As she continued to hurt herself during her first year, her parents decided that they had just as good a chance of figuring out what was wrong with her as her doctors did. So while Gabby visited neurologists, Trish, an editor at a trade journal before she quit her job after Gabby’s birth, started her own Internet search for a name for her daughter’s condition.
She found an article in a dental journal about treating symptoms similar to Gabby’s. The children described in the article had bitten their fingers and tongue, just like Gabby. It described five types of hereditary sensory autonomic neuropathy. The first four included symptoms that Gabby didn’t have, such as mental retardation.
Type 5, however, blocked pain sensation, but didn’t cause mental retardation. Type 5 sufferers also retain their other nerve senses — heat, cold, vibration and the ability to perceive movement, which is how you know your foot just pressed on the gas pedal even though you can’t see it.
A nerve biopsy confirmed that Gabby, then just 12 months old, had HSAN Type 5. Steve and Trish finally knew why their daughter was hurting herself.
Very few have Type 5
The Type 5 variety is so rare that Dr. Peter Dyck, a neurologist at the Mayo Clinic, estimates that 25 people in the United States have HSAN Type 5 — taking into account those who have not been diagnosed. Steve and Trish know of only one other person in this country who has it.
There are no support groups, no how-to books for parents, little medical research. And no cure.
Keeping their children as healthy as possible is the only option for parents of children with HSAN, Dyck said.
He was part of a team that classified the five types of HSAN in 1983. One girl he studied held her hand on a hot stove until her mother smelled the burning flesh and removed it. The same girl poked a pencil through her cheek.
In other ways, Gabby is like any other 3-year-old. She hops out of a preschool minivan with purple paint smeared from her elbow to her wrist from a butterfly she painted. She loves the “Lion King” movie and books. On request she’ll roar like Mufasa, or mimic Simba’s soft growl.
While playing with her 7-year-old sister, Katie, behind their house in rural central Minnesota, she points out that the crossed chains of her swing look like the letter X.
Potential for gene therapy
Dyck said that perhaps someday HSAN can be cured through gene therapy, where healthy genes would replace the mutated ones that cause the disease. But a breakthrough, if there is one, could take decades.
So Steve and Trish rarely let Gabby out of their sight. Every fall brings a thorough check of her knees, or an inspection for a cut or break that they might not have noticed.
The Gingrases recently visited another American HSAN patient, a 24-year-old woman in Sioux Falls, S.D., who they said was the patient described by Dyck in the 1983 article.
The meeting finally allowed the Gingrases to compare notes with another parent who had a child with the disease. But the meeting was difficult, too.
The woman is in a wheelchair now, after losing both legs to knee infections because as a girl she had hurt her knees but didn’t know it. She lost her first leg at age 4.
“It’s discouraging,” Steve said. “It’s like seeing Gabby in a wheelchair.”
lone wolf
Consider: Absence of pain is also absence of pleasure.

Interesting topic Karrie
The only remedy I can see is the application of some form of Eugenics. Quite a few years ago Huntington's Chorea was just about eradicated by voluntary selective breeding(for want of a better term) One of the problems was that the disease doesn't normally show up till middle age. All they could do was to inform everyone thought to be at risk.
Indeed Wolf.

I had picked up a book at a restaurant I had stopped at when I was living in Northern BC. They were a spiritual book store as well as being a popular destination for pies and homemade bread. One of the books, staring at me from a turning rack, as I shifted uncomfortably in my chair due to the pain in my back, was entitled 'the gift of pain'. I was, frankly, furious, and when I was done eating I had to stomp over and see what kind of religious idiocy would be used to back up the notion that I should appreciate being in pain.

The presence of pleasure, the ability to know when you're hurt, cold, hungry. These are indeed things that we don't want to give up.
Quote: Originally Posted by #juan View Post

Interesting topic Karrie
The only remedy I can see is the application of some form of Eugenics. Quite a few years ago Huntington's Chorea was just about eradicated by voluntary selective breeding(for want of a better term) One of the problems was that the disease doesn't normally show up till middle age. All they could do was to inform everyone thought to be at risk.

Hmm. I know these children live difficult lives. And their parents as well. But, it seems to me that seeking a cure for them (because genes mutate and can pop up in people who weren't previously at risk), is preferable to seeking to prevent them from existing.

Perhaps the cure to less severe issues are found in attempting to relieve the extreme suffering of the rare illnesses like this.
Strictly speaking, pain is part of the bodies defense system that we learn from (hopefully) so we can avoid repetition. When I was three I touched a hot element and learned never to do it again. It is essential for survival. It lets us know that something is very wrong and needs attention.
As for the philosophical and spiritual question, I think it is similar to the physiological point.

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