All About EDS (Part 1 of 3)
I've been meaning to post...for forever. A lot of things got in the way: city-hopping to Philly for the summer, subsequent arguments with my sister and another unwelcome flare-up in symptoms. Back in Cleveland, my father quit his job over arguments with management (working him into the ground and being shady about overtime) leaving neither parent employed. So for the time being, I'm stuck here, until I can save enough money to rent an SUV and drive home. I'm aiming for the second or third week in September, and definitely before my birthday.
The big three-oh.
Before I say anything else, let me make good on my last promise.
The disorder entered modern Western civilization (such as it is) via a two doctors, a Dane and Frenchman...the eponymous Ehlers and Danlos.
In actuality a Russian doctor named Tschernogobow predates them both, but since no one could say his name in every country besides Russia, the disorder is known as Ehlers-Danlos Syndrome.
Both Ehlers and Danlos described the symptoms of lax joints, fragile skin and easy bruising occurring together. Back in the heyday of sideshows, many of the people who performed as contortionists stretching their skin, joints and doing other 'freaky' moves in fact had EDS.
Now we know that there are six different types, all affecting the production and quality of collagen in some way. A few of the renegade genes have been discovered, but not all by any means.
I don't have time to describe all six types, so I'll focus on my variant, Classic-type.
It's important to note several facts about EDS.
It doesn't make you look any different really. When I was born, no one had any reason to suspect I was anything other than healthy. Some types have a distinct look, while others can present with congenital dislocations or lack of muscle mass.
I was a breech baby. But not the kinds of things you think of when you hear the phrase "genetic disorder."
The second fact is just like things like Lupus and Multiple Sclerosis are invisible to people on the street, EDS is "invisible" to doctors.
That's why you've read so many of my journal entries complaining about doctors who accuse me of faking, or wanting narcotics, or being mental. It was that way before I was diagnosed and even after my diagnosis, some doctors still don't get it.
They're looking for an abnormal blood test, or x-ray, or CT scan. Something they can see. The hypermobility that results from abnormal collagen is overlooked by doctors as normal. They see hypermobility in my joints and say, oh, she's flexible, she's supple. It helps if you understand that flexibility is always obtained at the cost of stability and vice versa. So rather than very flexible, think of me as very unstable. The more "flexible" I am, the more difficult it is for me to operate my body normally. Instead of being flexible in a few joints like a pianist or gymnast, my entire body is too flexible. The toes, the ankles, the knees, the hips, the spine, the neck, the bones in the inner ear. All of it.
My muscles strain and pull trying to hold my body together, keep the joints in their proper configurations so I can walk and lift things and do things most people do everyday without a second thought.
And it hurts like hell.
But most doctors don't understand that. Much of the time, they don't understand any of it. They are skittish about treating the terrible pain it causes. When it comes to my ill-functioning autonomic nervous system, they have no idea how to treat the resultant problems.
Because once again, the autonomic nervous system can't be visualized with a scan or blood test. You have to perform very specific tests to pinpoint the damage and even then, treatment options are few. From the time I started exhibiting signs of dysautonomia to the time I was diagnosed with it, the time frame was twenty-two years.
Let me briefly compare a 'sister' syndrome called Alport Syndrome. It causes kidney failure and hearing impairment, sometimes deafness. Even without knowing about the syndrome behind a person's kidney problems and deafness, their doctors would still treat the kidney failure and give a hearing aid to deal with the hearing impairment.
But the two primary manifestations of my form of EDS, pain and a disrupted autonomic nervous system are disbelieved in the case of the former, and misunderstood in the case of the latter.
So instead of being diagnosed when I was a six-year-old girl with dislocating knees and a heart rate of 90 when it should have been 72, I was called lazy, clumsy, inattentive, faker, 'all worked up', 'always pretending to be hurt.'
I can read these phrases on my old report cards. At the time, it stung my feelings terribly, leaving a deep feeling of being misunderstood by everyone around me.
Like every other disorder, EDS runs the range from very mild to very severe. My case is pretty middle of the road, in that I didn't start showing very bad symptoms until my mid 20s. I can still walk, although I need assistance in the form of a cane or crutch sometimes.
Frankly, my dysautonomia is much worse than my joint problems.
More about dysautonomia and how the autonomic nervous system works in part two. I'm leaving these entry public for the edification of all curious readers.
Ask questions in the comments. Don't be shy. I want you all to ask at least one question if you've made it this far.
The big three-oh.
Before I say anything else, let me make good on my last promise.
The disorder entered modern Western civilization (such as it is) via a two doctors, a Dane and Frenchman...the eponymous Ehlers and Danlos.
In actuality a Russian doctor named Tschernogobow predates them both, but since no one could say his name in every country besides Russia, the disorder is known as Ehlers-Danlos Syndrome.
Both Ehlers and Danlos described the symptoms of lax joints, fragile skin and easy bruising occurring together. Back in the heyday of sideshows, many of the people who performed as contortionists stretching their skin, joints and doing other 'freaky' moves in fact had EDS.
Now we know that there are six different types, all affecting the production and quality of collagen in some way. A few of the renegade genes have been discovered, but not all by any means.
I don't have time to describe all six types, so I'll focus on my variant, Classic-type.
It's important to note several facts about EDS.
It doesn't make you look any different really. When I was born, no one had any reason to suspect I was anything other than healthy. Some types have a distinct look, while others can present with congenital dislocations or lack of muscle mass.
I was a breech baby. But not the kinds of things you think of when you hear the phrase "genetic disorder."
The second fact is just like things like Lupus and Multiple Sclerosis are invisible to people on the street, EDS is "invisible" to doctors.
That's why you've read so many of my journal entries complaining about doctors who accuse me of faking, or wanting narcotics, or being mental. It was that way before I was diagnosed and even after my diagnosis, some doctors still don't get it.
They're looking for an abnormal blood test, or x-ray, or CT scan. Something they can see. The hypermobility that results from abnormal collagen is overlooked by doctors as normal. They see hypermobility in my joints and say, oh, she's flexible, she's supple. It helps if you understand that flexibility is always obtained at the cost of stability and vice versa. So rather than very flexible, think of me as very unstable. The more "flexible" I am, the more difficult it is for me to operate my body normally. Instead of being flexible in a few joints like a pianist or gymnast, my entire body is too flexible. The toes, the ankles, the knees, the hips, the spine, the neck, the bones in the inner ear. All of it.
My muscles strain and pull trying to hold my body together, keep the joints in their proper configurations so I can walk and lift things and do things most people do everyday without a second thought.
And it hurts like hell.
But most doctors don't understand that. Much of the time, they don't understand any of it. They are skittish about treating the terrible pain it causes. When it comes to my ill-functioning autonomic nervous system, they have no idea how to treat the resultant problems.
Because once again, the autonomic nervous system can't be visualized with a scan or blood test. You have to perform very specific tests to pinpoint the damage and even then, treatment options are few. From the time I started exhibiting signs of dysautonomia to the time I was diagnosed with it, the time frame was twenty-two years.
Let me briefly compare a 'sister' syndrome called Alport Syndrome. It causes kidney failure and hearing impairment, sometimes deafness. Even without knowing about the syndrome behind a person's kidney problems and deafness, their doctors would still treat the kidney failure and give a hearing aid to deal with the hearing impairment.
But the two primary manifestations of my form of EDS, pain and a disrupted autonomic nervous system are disbelieved in the case of the former, and misunderstood in the case of the latter.
So instead of being diagnosed when I was a six-year-old girl with dislocating knees and a heart rate of 90 when it should have been 72, I was called lazy, clumsy, inattentive, faker, 'all worked up', 'always pretending to be hurt.'
I can read these phrases on my old report cards. At the time, it stung my feelings terribly, leaving a deep feeling of being misunderstood by everyone around me.
Like every other disorder, EDS runs the range from very mild to very severe. My case is pretty middle of the road, in that I didn't start showing very bad symptoms until my mid 20s. I can still walk, although I need assistance in the form of a cane or crutch sometimes.
Frankly, my dysautonomia is much worse than my joint problems.
More about dysautonomia and how the autonomic nervous system works in part two. I'm leaving these entry public for the edification of all curious readers.
Ask questions in the comments. Don't be shy. I want you all to ask at least one question if you've made it this far.