Monday, December 9, 2019

Rare Genetic Mutation Prevents Woman from Feeling Pain

At some point in our lives, we’ve all imagined what it would be like to have super powers. We’ve dreamed of being able to fly, possessing Wolverine’s ability to heal his wounds, Aquaman’s good looks and underwater powers, and even Deadpool’s ridiculously upbeat attitude despite the circumstances he’s put in has become something we covet. Seriously, how does he manage to keep a good attitude despite the fact that he gets ripped to pieces and life sucks for him? We’re insanely jealous! That’s a power in and of itself.

And of course with the recent influx of superhero movies that are taking over the big screens, these fantasies have become even more popular. In fact, there are tons of forums, blogs, and social media posts dedicated to asking fans around the world what kind of super hero powers they’d have and why. The rise in popularity of these posts is almost certainly directly related to the superhero movies that are taking over the big screen.

Unfortunately, the superhero business is left to the comics and movies where a special universe exists that allows these types of powers to exist. All we can really do is daydream or hope to one day inherit a bank account the size of Batman’s. That way we can at least claim our super power is money and use our wealth to stop crime. Also, people have done the research on the amount of money it would actually take to be the Batman from the DC universe and it’s staggering; $682 million is how much you’d need to invest in Bruce Wayne’s lifestyle and crime fighting gadgets.

Of course it’s fun to daydream but for one woman in Scotland it’s more than a fantasy; it’s her everyday life. Yes, you read that right, a woman in Scotland has some superhero like powers. A rare gene mutation has left her unable to feel pain. And as an added bonus, she doesn’t feel anxiety or fear either.

Pain doesn’t exist for Jo

what are the 4 types of mutation
Pain Mutation

Jo, a 71 year-old woman from Scotland feels no pain at all. She also doesn’t feel anxiety or fear for the most part either. “I’m not really afraid of anything and I never feel anxious,” Jo said. “I don’t know what it’s like to be afraid of something. Most of us are afraid of things that causes of mutation or pain and this can trigger anxiety and fear. Like, you might be scared to go rock climbing because the fall could really hurt. Since I don’t feel pain, there’s nothing to fear about climbing. If I fall, it won’t hurt.”

Doctors also note that with the gene mutation, that feelings of fear and anxiety really aren’t prevalent. “Sure, you probably won’t be afraid of say surgery because you don’t feel any pain, but this gene mutation also limits the fear and anxiety response within the brain. We’re still not really sure why,” doctors say. So in other words, those with the gene mutation won’t feel anxious or afraid. And since no pain is associated with things either, the brain has even less reason to be afraid.

One of the questions that often gets raised in regards to Jo’s condition is that maybe she just has a really high pain tolerance. However, this isn’t the case; Jo’s body is incapable of feeling pain. In fact, she even described childbirth as “being quite enjoyable,” a remark that probably leaves a lot of women in shock. And while you’d imagine an enjoyable childbirth would throw up some red flags, Jo says it didn’t.

“I had read about women having easy childbirths. I just figured I fell into that category as well,” she said with a shrug. “Looking back, all the signs were there but if you’ve grown up believing that you’re just like everyone else, then you don’t really seen the signs. You just assume that everyone else is just like you and that this is how we all function.”

This isn’t normal?

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mutation pictures of animals

Before Jo’s rare gene mutation was diagnosed, she believed that she was just an average person; albeit a very healthy one. “I just assumed that I was like everyone else. I had nothing to compare myself to in a way so I figured this was just how it was for everyone. I mean my friends got sick way more often than I did, but I just figured that was because I was really healthy. I didn’t attribute it to anything more than that. Turns out, it was much more than just being very healthy; I can’t feel pain and I can’t feel when something is wrong with my body such as sickness in many cases,” Jo states.

There were plenty of instances when red flags should have popped up, but they went largely unnoticed. Even when childbirth was easy for Jo, she and others never assumed anything was wrong or out of the norm for the Scottish woman. As mentioned earlier, Jo just assumed that she was one of the lucky ones who had an easy childbirth. After all, there are cases of women reporting little to no pain during childbirth and some even describe the experience as pleasurable. Jo and others just assumed she fell into this category.

She’s also one of only two people known to have the condition. Doctors suggest that there may be others out there with Jo’s rare gene mutation, but they remain undiscovered. “They could be just like Jo but not realize that they’re any different,” doctors have said.

And because the condition is so rare, there was never really any reason to question Jo’s pain tolerance and health. “We don’t actively check for this gene mutation and why would we in the first place? People have different levels of tolerance for pain. If we checked every person who came in with a broken bone not complaining about the pain they’re in for the gene, we’d be checking a lot of people.” Plus with the gene being so uncommon, it’s not something that is often checked for anyways. “We typically just assume their body is different from others in how it interprets and handles pain.”

It took 65 years to diagnose/discover her condition

what is mutation in biology
chromosomal mutation

While Jo’s interesting power is shocking enough on its own, what’s even more bizarre is that she lived 65 years with the rare mutation without even realizing that it wasn’t normal. According to BBC, it wasn’t until she had surgery on her hand that she learned that she was different from others. Doctors were shocked when Jo didn’t need any painkillers after the surgery and it set off some concerns/alarm bells.

“This is a major surgery,” said one of the doctors, “it’s no uncommon for patients to require some heavy painkillers for some time after the surgery. The healing process is painful and Jo never asked for any. We were concerned and didn’t believe her at first. She was extremely insistent that she didn’t need any pain medication and we wondered if maybe she had a history of abuse with pills and was abstaining from them for that reason.”

The doctors then prowled through her medical history for answers. As they looked through charts and documents, they realized that Jo had never asked for painkillers in her life. Physicians became fascinated with their discovery. “This wasn’t just a high pain tolerance, this had to be something more. Regardless of the pain levels associated with some of the surgeries and what have you that Jo has gone through, she’s never requested any form of pain management. There’s something more to her than just a high tolerance for pain,” doctors remarked. This is when they recommended that she see specialists in England to further examine her.

Congenital insensitivity to pain

mutation examples
point mutation images

As stated throughout the article, Jo’s remarkable powers are all thanks to a mutation in a gene. Originally, the gene was thought to be useless within the body. However given Jo’s inability to feel pain, scientists are rethinking their stance on the gene. 

The mutation is referred to as congenital insensitivity to pain and like the name implies, the condition prevents the body from interpreting physical pain. And this condition also begins from the time of birth. It’s also not limited to just one specific part of the body; as demonstrated by Jo, the entire body is incapable of processing pain.

However, this doesn’t mean that the body isn’t capable of feeling anything. People with congenital insensitivity to pain can tell a difference between feelings of hot and cold and sharp or dull. They can feel the heat of a flame beneath their hand, but they cannot feel the pain of it burning their skin. Because of this, health issues can easily go undetected; just as they did for Jo.

Other side effects of mutation condition include lack of fear, anxiety, and even the complete loss of the sense of smell. For Jo, she’s able to smell things.

This condition is also considered to be a form of peripheral neuropathy since it affects the peripheral nervous system. This system connects the spinal cord and the brain to the muscles and cells throughout the body that are responsible for detecting sensations such as pain, touch, and smell.

Side effects of her super power

consequences of gene mutation
beautiful genetic mutations in humans

No superhero perk is without its downfalls though. Wolverine’s ability to heal means that he’s immortal and will live to see all of his loved ones and friends perish. For Mr. Glass, is body is extremely fragile and he’s limited to a wheelchair. And the same applies to Jo.

With age, the body starts to fall apart. Muscles and bones deteriorate over time. For most people, we start seeing signs of this pretty early on. Physical symptoms such as pain, stiffness in joints, and fatigue queue us in that something is wrong with our bodies and we can get to the doctor in time to get it fixed before it gets too bad. However for Jo, since she is incapable of feeling pain, these warning signs don’t come. She’s often left assuming nothing is wrong until it gets to the point where something is seriously wrong.

Jo’s hip deteriorated over time due to age. The bone and muscle grew extremely weak but since Jo is unable to feel pain, she didn’t know something was up until she couldn’t walk. “I didn’t know anything was wrong with my body until I physically couldn’t get out of bed. I had help and realized that I couldn’t even walk; I could hardly stand. Nothing of course hurt, but something was seriously wrong,” she commented.

Jo was diagnosed with osteoarthritis in her hip. Scans were done on the affected area and doctors discovered that her joints were severely degenerated. “It was bizarre. Here’s this woman with joints that are incredibly deteriorated, so much so that she can’t even walk. However, she’s not complaining about being in any type of gene mutation or pain. She only realized something was wrong when she couldn’t walk. She should have had significant pain long before getting to this point. And she should also be in a lot of pain now. The fact that she wasn’t should have been a red flag, but we overlooked it for some reason,” said doctors.

In fact when Jo’s doctors were looking through her charts, this was one of the instances that really caught their eye. “This was what made us refer her to specialists in England,” they said.

Medical potential with Jo’s gene mutation

nonsense mutation
human mutation

Because of Jo’s condition, she has become a fascinating case study for doctors. Many have also begun to wonder whether or not her genetic makeup could be the key in pain relief for others. “If there’s something present within her genetic composition, maybe we can study it and isolate it. If that were possible, we could help people with debilitating pain manage their symptoms and lead fuller, happier lives. Of course, we don’t completely eradicate the body’s ability to feel pain, but if we could manipulate the genes mutation in a way that reduces the pain to a more manageable level, this would be a game changer.”

Doctors also believe that Jo’s body heals faster than a regular person’s does. They hope in the future that they will be able to replicate this in others in order to speed up the healing process.

Of course this has stirred up a lot of controversy within the medical field regarding ethical and moral standards, but right now doctors are still trying to understand the genetic mutation. “We’re no where near the ability of replicating, mutating, or messing with this kind of stuff right now. But it’s interesting to think about the possibilities.”

What are your thoughts of mutation?

We want to start off by asking whether or not you’d like to have Jo’s mutation powers. Do you think it would be cool being unable to feel pain or are you more concerned about having injuries go unnoticed such as Jo’s deteriorating hip? We also want to know what you think about the idea of doctors manipulating these genes mutation in order to relieve pain for suffering individuals. It’s quite controversial so we’d like to know your stance on the subject matter.

The post Rare Genetic Mutation Prevents Woman from Feeling Pain appeared first on Ishli.com.



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