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Exploring the Darker Side of Everything

Congenital Analgesia: The World’s Most Terrifying Disease

Written by Laura Davies

If you’ve ever broken a bone, given birth or passed a kidney stone, the idea of a life without pain might sound incredible. Unfortunately, though, for around 1 million people worldwide, the reality is terrifying, disfiguring, and ultimately life-shortening.

Sufferers report side effects like arthritis and bone infections as a result of walking on broken bones; oesophageal cancer from repeated consumption of searingly hot liquids; and tooth and jaw removal due to undetected dental infections that are given time to spread. Many also suffer partial blindness as they can’t detect when something gets in their eyes, and third-degree burns are frequent as they can’t feel when something is hot.

The condition is present from birth and, without pain, affected children have no idea what their limits are. They’ll break bones constantly as they don’t know what height their bodies can withstand a jump from. In one case, a young girl broke her knees by repeatedly jumping and landing on them because she thought the cracking sound was funny. In another case, a boy leapt from the 2nd storey of a house and entertained himself by waggling his leg, complete with broken shinbone, around to scare people.

It’s called congenital analgesia and most adults with the condition are missing part of their tongue, bitten through when they were teething. In some cases, kids have chewed off whole fingers.

By Axelrod FB et al. – Axelrod FB, Gold-von Simson G. Hereditary sensory and autonomic neuropathies: types II, III, and IV. Orphanet J Rare Dis. 2, 39. 2007. doi:10.1186/1750-1172-2-39. PMID 17915006., CC BY 2.0, https://commons.wikimedia.org/w/index.php?curid=3787842

 

Discovery

The condition was formally discovered in 1932, when Dr George Dearborn presented a 54-year-old man before the New York Neurological Society. This man had never felt pain, aside from a few headaches, in his entire life, and it definitely wasn’t as a result of simply avoiding injury. When he was 7, he got too close behind a labourer wielding a flat-edged pick. The tool caught him under his right cheekbone and lifted him 2ft into the air. The same year, he was impaled in the skull by a lathing hatchet. It was in so deep that it didn’t fall out as he ran home to have it yanked out by his dad. Neither of these events caused him any pain.

He didn’t even complain when he shot himself through the left index finger with a .22 hammerless pistol, shattered the lower end of his left fibula by falling from a fence, broke his nose by head-butting a piano, and was only alerted to the fact that he’d seared all the skin off his fingers by the smell of burning flesh. As congenital analgesia wasn’t a thing yet, his doctors dismissed him as “a good soldier” with “wonderful grit.”

When it became time to earn a living, he capitalised on his unique ability and took to the vaudeville stage as “Edward II. Gibson, the Human Pincushion”. He spent 19 months allowing the audience to push pins into him, anywhere except the abdomen and the groin, naturally. During each show, 50 or 60 would be inserted, up to their heads.

He once tried to expand his show to include a “special stunt,” which was a crucifixion. Unfortunately, this went a bit too far for his audience, as a woman fainted after only one gold-plated spike was driven through his palm with a sledgehammer. The rest of the act had to be called off. He retired from show business a year later but still performed for friends occasionally by jamming needles into his arms or pushing a hat pin through one cheek and out the other.

 

Super Humans

So, is the inability to feel pain, a good superhero power to have? The case of the Human Pincushion doesn’t sound too bad. Easy money, if you don’t mind being treated like a freak and probably fending off a few punters intent on breaking the no groin rule. However, the reality is pretty horrifying and it’s thought there are only so few cases because sufferers simply don’t live long enough to pass down their genes.

You see, the ability to feel pain isn’t just an inconvenient side effect of having the sense of touch. It’s a vital warning system, evolved to minimize damage to tissue and cells. It’s essential for survival. Pain tells us when something we’re doing is damaging our body and teaches us not to do it again. Without it, people tend to smash up their joints, burn off their skin and let infections tear through their bodies.

For example, in 2006 geneticist, Geoffrey Woods was investigating the condition when he heard of a 13-year-old in Pakistan named Naveed. Naveed had become famous in his village as the “Painless boy” who’d plunge knives into his arm and walk across burning coals without flinching. Woods wanted to meet and study him, with the aim of gaining a better understanding of pain and potentially developing a treatment.

Unfortunately though, just as Woods was preparing for the trip, Naveed decided to impress his friends by jumping off the roof of his family’s home, he thought he was invincible. He survived the leap and walked away seemingly unscathed but later fell unconscious and died of a catastrophic brain bleed. He’d hit his head in the fall but hadn’t even felt it.

https://picryl.com/media/arthur-plumhoff-captain-ringman-mack-nby-415813-76b4a4

 

Symptoms

The main symptom of congenital analgesia is a lack of pain, which seems like something that’d be obvious to most people. However, if you’ve never felt something, it’s pretty tricky to notice a lack of it, and so, occasionally cases are diagnosed quite late in life.

This was the case for one woman who didn’t know she had the condition until she underwent what’s known to be a painful operation on her hand at age 65. Doctors were startled when she didn’t ask for any pain relief and, sent her to geneticists for testing. Following her diagnosis, it became clear why she’d found childbirth enjoyable, scotch bonnet chillies underwhelming, and hadn’t noticed her hip was giving out until it needed to be replaced.

However, now that the condition is becoming more well known by being featured on shows like House and Grey’s Anatomy, and the internet makes it so much easier to diagnose ourselves with rare and exotic diseases, it’s now much more common for congenital analgesia to be diagnosed in infancy.

Most babies born with the condition will appear happy and well-behaved for their first 6 months of life, rarely crying or showing any signs of discomfort. Unfortunately, trouble emerges along with their first tooth. Teething is a nightmare for most parents, but imagine if it resulted in your baby chewing their fingers to bloody stumps that resembled raw meat, or biting the end of their tongue clean off.

In the case of Gabby Gingras, she chewed her tongue like gum until it swelled so large she couldn’t drink. She was hospitalised for 10 days until the decision was made to remove all of her baby teeth. Things got worse when she scratched her own eyes, resulting in a corneal abrasion and infection. When the medicated gel she was prescribed only made her scratch them more, doctors decided that the only way to protect her healing corneas was to sew her eyes shut. Unfortunately, at just a year old, she couldn’t understand what was happening, grabbed her top and bottom eyelids and ripped them open again. The resulting damage meant one eye had to be removed, and she spent the rest of her childhood in swimming goggles.

Unfortunately, due to the rarity of the condition, it’s still very hard for families to get a solid diagnosis or support. The Brown family from Iowa noticed that something was up with their son, Isaac, when he plunged both hands into his mother’s hot coffee and didn’t cry. When he then received 3rd-degree burns from placing his hand on the stove, they took him to a neurologist who recommended genetic testing, something they couldn’t afford. However, when Isaac used a pair of nail clippers to rip out all of his eyelashes they decided enough was enough and had to pay. They received the diagnosis, congenital analgesia, but tragically, no cure or even treatment.

 

By Cthuljew – Own work, CC BY-SA 3.0, https://commons.wikimedia.org/w/index.php?curid=10251445

Causes

So what causes this awful condition? Our bodies feel pain when temperature, pressure, or chemicals released by tissue damage stimulate the nociceptors in our skin. This causes them to open their voltage-gated sodium channels (VGSCs), which induces the flow of sodium ions and generates an action potential, the signal that travels to the brain.

Congenital analgesia occurs when this complex system is disrupted due to mutations of one of the genes involved. For example, mutations in SCN9A cause the sodium channels to be non-functional. This means they can still detect whatever is causing the pain, but they can’t then send signals about it to the brain. Mutations in SCN11A have the opposite effect and cause the VGSCs to become overactive. This disrupts the receptors’ ability to produce and send the appropriate signals. Finally, in rare cases, patients have a mutation in PRDM12. This is the gene responsible for the development of pain-sensing neurons, and a mutation in it prevents the development of pain fibres altogether.

 

Life Expectancy        

The condition doesn’t kill you, it just stops you from noticing that something else is. For example, sufferers live in fear of appendicitis, in particular, as they’d have no clue their appendix had inflamed or even burst until death became a very likely outcome.

This is one of the biggest fears for Steven Pete, who grew up with his brother, who also had the condition, in Washington State, US. He was first diagnosed when he chewed off a quarter of his tongue in infancy and a doctor held a lighter to his foot to confirm it. However, the diagnosis wasn’t enough to prevent child protective services from removing him from his parents due to a staggering number of injuries when he was 5 or 6 years old. Lucky-ish for them all, he broke his leg again after just 2 months in care, and the state was forced to admit that both his doctor and parents had actually been telling the truth. He was returned to them.

His most dramatic injury was a broken leg he sustained while roller-skating. He didn’t even notice until other skaters pointed out that his trousers were soaked in blood from where the bone was sticking out. When he broke his foot as an adult, it was his wife who noticed first. As it didn’t cause him any pain, he just duct taped it up and went to work.

Today, he suffers from severe arthritis that limits his mobility and is waiting for the day his left leg gives out completely and needs to be amputated. The result of years of injuries caused by being a young boy with a complete lack of fear. His brother tragically took his own life when he learnt that damage to his back would confine him to a wheelchair. As an outdoorsman with a passion for hunting and fishing, it just wasn’t a life he wanted to live.

Infection is another big issue. Pain performs three vital roles when we have a cut or wound. Firstly, it alerts us to the fact we have an injury; then it constantly reminds us to keep the wound clear; and finally, it warns us if an infection has set in.

When Amanda Smith was a child, she scraped her big toe at a swimming pool. She didn’t notice until the infection had spread to her blood, at which point her toe had to be amputated. Unfortunately, the infection just kept spreading, so at age 12, her right leg had to be amputated, then her left at age 14, and finally her right arm.

“When you can’t feel pain, you never know when you’re hurt,” she said. “Not until it’s too late.”

 

Further Research

Unfortunately, there’s no cure or even treatment for the majority of congenital analgesia cases, but some progress has been made with a drug called Naloxone, which can combat one of the mutations. The problem is, that the condition only affects 1 in a million people worldwide and only 100 in the US, so there’s no real financial incentive for the very costly genetic research required.

What there is a financial incentive for, however, is pain relief. 1 in 10 adults are diagnosed with chronic pain each year, 14 billion doses of pain medication are taken daily, and pain itself costs the US $560 billion a year. Our pain-killing market is dominated by opioids like codeine and morphine, but the addictive high is resulting in 91 US deaths a day through overdoses.

For this reason, congenital analgesia sufferers have become targets of great interest for researchers and pharmaceutical companies, with many believing their bodies might hold the key to side-effect-free pain relief. Happily, the majority of these patients have gladly accepted the opportunity to help. Yes, there may be a tiny chance the extra research could yield a treatment for their condition, but mostly they’re just happy to have the opportunity for something good to finally come from their pain or lack of it.

Citations

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