Hello there sunshine and welcome to today’s post!
Let’s just get this out of the way.... The world has gone bat sick crazy!! Ehehehehe see what I did there? But I think there’s enough media out there on the current COVID, economy crashing, clueless politician, greedy toilet paper hoarding crisis. So to lighten the mood, today I will be defining and laying out the intricacies of my disability. But we’ll start with a question... What’s it like to have an extremely rare disability? Well quite frankly.... It stinks! More on that later...
So what is my disability anyways? Get ready for the very bane of my existence as a kid. My disability is called Arthrogryposis, which is pronounced “arth-row-gry-poe-siss”. Yeah, try saying that when you’re seven years old and missing your two front teeth... The full name for it is Arthrogryposis Multiplex Congenita, which gives my autocorrect an aneurism every time I type it out. Thankfully there’s an abbreviated version, AMC, which I will be using for the rest of this post. Ok so we’ve established the name and how to say it, but what exactly is AMC? Well my friends at amcsuoport.org do a much better job at defining it, so I’ll let them take this one. “Arthrogryposis multiplex congenita (AMC), commonly referred to as arthrogryposis, is the medical term describing the presence of multiple congenital contractures. The word arthrogryposis (arthro, from Greek meaning joint, gryp meaning curved, posis meaning fixed) refers to curved joint(s) in a fixed position. Thus, arthrogryposis multiplex congenita means curved joints in many (multiplex) areas of the body, which are present at birth(congenita).” So now that we know what AMC is, I want to take a moment to debunk something I commonly hear, and something that irritates the hell out of me when I do hear it. AMC is not, I repeat NOT, a disease! That makes it sound like something you can catch… I did not go to sleep one night normal, and wake up the next day as a human pretzel. Nor did someone walk up to me and sneeze and several hours later my limbs started to shrivel up. One more time, my congenital birth defect, meaning present at birth, is not a disease. Most disabilities are not diseases. Are we on the same page? Cool. Now back to our regularly scheduled programming….
AMC affects a whopping 1 in 3000 live births, making it a rare defect. The cause of AMC is still not really known, but some research states it's a defect in the spinal cord and due to lack of movement in the womb. While the condition itself is not generally fatal, complex cases usually coupled with other conditions, can make some individuals with AMC pass away before they reach adulthood. Interestingly enough though, most people I know with AMC, myself included, were deemed to be unlikely to live past a few weeks old. So to that effect we are natural born fighters. AMC is not progressive, meaning that it doesn’t get worse as time goes by. In fact in a lot of cases, early surgery and treatments like physical therapy can improve upon things like range of motion and severe deformations. But, as people with AMC age, things like arthritis can make the symptoms of the condition worse. Here are some more random facts…. Most people with AMC are born with a red birthmark on their foreheads, called an angel kiss, that fades with age. AMC can affect one joint of the body or several, which means some people with AMC can walk and are very high functioning, and some people are permanently in a wheelchair and low functioning. A mild form of AMC is clubbed feet. AMC can affect any joint of the body, including the jaw. AMC is a form of Muscular Dystrophy. Most people with AMC are deemed to have above average intelligence (obviously…. ;) ) People with AMC are naturally sexy. Ok, I made that one up….
Hopefully this has been fairly easy to understand, but it can get more complicated. AMC is an umbrella term, but there are actually several different types of it; Amyoplasia, Distal, and Everything Else. To save time and energy I’ll just define the type I have, Amyoplasia (pronounced “ah-mioh-play-shah”). “Amyoplasia (A = no, myo=muscle, plasia=growth) means no muscle growth and is the most common type of AMC . It is estimated that one third of people born with AMC will have Amyoplasia about 1 in 10,000 and it’s typically referred to as ‘Classical type AMC.’ This is considered the non-genetic form of AMC, meaning there has been no mutation in the genes to cause the condition to be present, and is not passed down from the parents.” So there you have it! I’m a stiff, twisted, physically weak human being…. And that’s just what’s physically wrong with me…
I can only imagine what it was like for my parents, when their newborn baby was diagnosed with this thing they’ve never heard of, and the doctors were telling them, “You’ll be devastated when you see your child. She won’t live past two weeks. Maybe you should just walk away now.” Yup, this coming from the medical professionals… But after switching to a doctor who actually knew what he was talking about, my parents were positively enlightened that I’d have some challenges in life but my future was not all doom and gloom. Phew! But here’s the thing about having a rare disability… Most doctors don’t know what it is, let alone how to improve upon it. Most doctors look at me in a confused stupor when I enter their office… So when I was four, we traveled to the great state of New York, all the way from Canada, to see one of the very few specialists out there on AMC. And what did he want to do? Knock me out and cut me open with a knife… Thanks doc. The surgery is called a rotational osteotomy, and involves cutting the femur in three places, rotating it, and putting it back together with screws and a plate. At four years old having bone surgery, which is deemed one of the most painful kinds of surgery, was definitely not a treat and to this day has left me with some medical PTSD. But the objective was to fix a severe deformity in my leg so I could sit in a wheelchair, and that was thankfully achieved. I had one more surgery when I was eight to remove the plate and screws, thus ending my under the knife experiences. Were there more surgical intervention options available? Oh of course! But most of them wouldn’t improve my function much, just the aesthetics of my limbs, and I’ve pretty much accepted that I’m as sexy as I’ll ever be… ;)
But what’s it like to be a kid growing up with a severe and rare disability? Well just to recap, it stinks… And honestly sometimes it was very lonely and confusing. Not only did I have to navigate the normal aspects of being a kid, but I also had to face the fact that not only did I not look like other kids, I also couldn’t do most of the things they could. Plus I had this big ass clunky wheelchair strapped to my butt, which always stuck out like a sore thumb. I would always get asked “what’s wrong with you”, which was not only difficult because I didn’t really understand my disability myself let alone how to explain it, but it also made me feel like maybe there truly was something wrong with me and that was a bad thing. I mean, the fact of it was that I had never seen anyone else who looked like me. Or not until I was ten years old that is. We eventually got wind of a conference that happened yearly in the states, and amazingly enough, it was specifically for people with my disability. Could this be? Would I finally meet someone who looked like me? We made the trek down to Texas for the conference, and I discovered for the very first time that there were lots of people who looked like me, both adults and kids alike! And they could do the most amazing things! And in the conference no one said once that something was wrong with them. Those conferences were a turning point in my life. I made many new friends, but most importantly, I finally knew that I wasn’t some fluke or a freak of nature. We went to many more conferences after that, and today they still run yearly, usually in a different state every year.
Since this post is long enough as it is, I’ll start to wrap it up here. But you can expect another post on childhood with a disability in the future! The point of this post was to kind of “humanize” my disability, and also show that knowledge is power. The more you know about something, the less intimidating it becomes. So go ahead! If you have questions, ask me! But otherwise don’t forget to share and follow my blog, and I’ll see you next time. Stay safe and stay well everyone!
References:www.amcsupport.org
Let’s just get this out of the way.... The world has gone bat sick crazy!! Ehehehehe see what I did there? But I think there’s enough media out there on the current COVID, economy crashing, clueless politician, greedy toilet paper hoarding crisis. So to lighten the mood, today I will be defining and laying out the intricacies of my disability. But we’ll start with a question... What’s it like to have an extremely rare disability? Well quite frankly.... It stinks! More on that later...
So what is my disability anyways? Get ready for the very bane of my existence as a kid. My disability is called Arthrogryposis, which is pronounced “arth-row-gry-poe-siss”. Yeah, try saying that when you’re seven years old and missing your two front teeth... The full name for it is Arthrogryposis Multiplex Congenita, which gives my autocorrect an aneurism every time I type it out. Thankfully there’s an abbreviated version, AMC, which I will be using for the rest of this post. Ok so we’ve established the name and how to say it, but what exactly is AMC? Well my friends at amcsuoport.org do a much better job at defining it, so I’ll let them take this one. “Arthrogryposis multiplex congenita (AMC), commonly referred to as arthrogryposis, is the medical term describing the presence of multiple congenital contractures. The word arthrogryposis (arthro, from Greek meaning joint, gryp meaning curved, posis meaning fixed) refers to curved joint(s) in a fixed position. Thus, arthrogryposis multiplex congenita means curved joints in many (multiplex) areas of the body, which are present at birth(congenita).” So now that we know what AMC is, I want to take a moment to debunk something I commonly hear, and something that irritates the hell out of me when I do hear it. AMC is not, I repeat NOT, a disease! That makes it sound like something you can catch… I did not go to sleep one night normal, and wake up the next day as a human pretzel. Nor did someone walk up to me and sneeze and several hours later my limbs started to shrivel up. One more time, my congenital birth defect, meaning present at birth, is not a disease. Most disabilities are not diseases. Are we on the same page? Cool. Now back to our regularly scheduled programming….
AMC affects a whopping 1 in 3000 live births, making it a rare defect. The cause of AMC is still not really known, but some research states it's a defect in the spinal cord and due to lack of movement in the womb. While the condition itself is not generally fatal, complex cases usually coupled with other conditions, can make some individuals with AMC pass away before they reach adulthood. Interestingly enough though, most people I know with AMC, myself included, were deemed to be unlikely to live past a few weeks old. So to that effect we are natural born fighters. AMC is not progressive, meaning that it doesn’t get worse as time goes by. In fact in a lot of cases, early surgery and treatments like physical therapy can improve upon things like range of motion and severe deformations. But, as people with AMC age, things like arthritis can make the symptoms of the condition worse. Here are some more random facts…. Most people with AMC are born with a red birthmark on their foreheads, called an angel kiss, that fades with age. AMC can affect one joint of the body or several, which means some people with AMC can walk and are very high functioning, and some people are permanently in a wheelchair and low functioning. A mild form of AMC is clubbed feet. AMC can affect any joint of the body, including the jaw. AMC is a form of Muscular Dystrophy. Most people with AMC are deemed to have above average intelligence (obviously…. ;) ) People with AMC are naturally sexy. Ok, I made that one up….
Hopefully this has been fairly easy to understand, but it can get more complicated. AMC is an umbrella term, but there are actually several different types of it; Amyoplasia, Distal, and Everything Else. To save time and energy I’ll just define the type I have, Amyoplasia (pronounced “ah-mioh-play-shah”). “Amyoplasia (A = no, myo=muscle, plasia=growth) means no muscle growth and is the most common type of AMC . It is estimated that one third of people born with AMC will have Amyoplasia about 1 in 10,000 and it’s typically referred to as ‘Classical type AMC.’ This is considered the non-genetic form of AMC, meaning there has been no mutation in the genes to cause the condition to be present, and is not passed down from the parents.” So there you have it! I’m a stiff, twisted, physically weak human being…. And that’s just what’s physically wrong with me…
I can only imagine what it was like for my parents, when their newborn baby was diagnosed with this thing they’ve never heard of, and the doctors were telling them, “You’ll be devastated when you see your child. She won’t live past two weeks. Maybe you should just walk away now.” Yup, this coming from the medical professionals… But after switching to a doctor who actually knew what he was talking about, my parents were positively enlightened that I’d have some challenges in life but my future was not all doom and gloom. Phew! But here’s the thing about having a rare disability… Most doctors don’t know what it is, let alone how to improve upon it. Most doctors look at me in a confused stupor when I enter their office… So when I was four, we traveled to the great state of New York, all the way from Canada, to see one of the very few specialists out there on AMC. And what did he want to do? Knock me out and cut me open with a knife… Thanks doc. The surgery is called a rotational osteotomy, and involves cutting the femur in three places, rotating it, and putting it back together with screws and a plate. At four years old having bone surgery, which is deemed one of the most painful kinds of surgery, was definitely not a treat and to this day has left me with some medical PTSD. But the objective was to fix a severe deformity in my leg so I could sit in a wheelchair, and that was thankfully achieved. I had one more surgery when I was eight to remove the plate and screws, thus ending my under the knife experiences. Were there more surgical intervention options available? Oh of course! But most of them wouldn’t improve my function much, just the aesthetics of my limbs, and I’ve pretty much accepted that I’m as sexy as I’ll ever be… ;)
But what’s it like to be a kid growing up with a severe and rare disability? Well just to recap, it stinks… And honestly sometimes it was very lonely and confusing. Not only did I have to navigate the normal aspects of being a kid, but I also had to face the fact that not only did I not look like other kids, I also couldn’t do most of the things they could. Plus I had this big ass clunky wheelchair strapped to my butt, which always stuck out like a sore thumb. I would always get asked “what’s wrong with you”, which was not only difficult because I didn’t really understand my disability myself let alone how to explain it, but it also made me feel like maybe there truly was something wrong with me and that was a bad thing. I mean, the fact of it was that I had never seen anyone else who looked like me. Or not until I was ten years old that is. We eventually got wind of a conference that happened yearly in the states, and amazingly enough, it was specifically for people with my disability. Could this be? Would I finally meet someone who looked like me? We made the trek down to Texas for the conference, and I discovered for the very first time that there were lots of people who looked like me, both adults and kids alike! And they could do the most amazing things! And in the conference no one said once that something was wrong with them. Those conferences were a turning point in my life. I made many new friends, but most importantly, I finally knew that I wasn’t some fluke or a freak of nature. We went to many more conferences after that, and today they still run yearly, usually in a different state every year.
Since this post is long enough as it is, I’ll start to wrap it up here. But you can expect another post on childhood with a disability in the future! The point of this post was to kind of “humanize” my disability, and also show that knowledge is power. The more you know about something, the less intimidating it becomes. So go ahead! If you have questions, ask me! But otherwise don’t forget to share and follow my blog, and I’ll see you next time. Stay safe and stay well everyone!
References:www.amcsupport.org
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