It took 34 years of active searching to figure it out; to figure out what was wrong with me. Really. 34 years of going to the doctor. Of going to many, many doctors and telling them that there was something very wrong. 34 years of dislocating joints, fainting, pain, vomiting and shitting blood, vertigo, limping and schlepping on a weak leg, tremors, a cough that wouldn't go away, and I don't know what else. I went to dozens of doctors over the years and had dozens of invasive tests. I even lost a child probably because of not knowing what was wrong. 34 years.
It was apparent even when I was a child that something was wrong. I had delayed motor development, lower extremity weakness, small stature, poor wound healing, and neurological symptoms. I'd also had Group B Strep disease as an infant and developed meningitis. However, I did recover from that according to the doctors. However, somehow, my childhood health issues were still incorrectly attributed to this illness and not further investigated.
The effort that actually was made by my parents was that I was encouraged to take part in athletic activities to address my obvious "weakness" and "clumsiness." This did become a lifelong thing, at least until recently, and was a double edged sword. The general level of exercise made me stronger. That's a good thing. However, it increased my potential for injury by a lot, and injuries I did get. A lot of injuries. These were not only poorly treated and misunderstood, but often non-healing and contributed to my poor quality of life now.
As I got older and gained some voice and control over my health care, I started insisting on finding medical care, knowing that something was wrong. The first diagnosis I managed was migraine. I now believe that I never had migraine to any significant degree, but that I suffered with cervicogenic headache and the gut problems associated with EDS, but it was a start. That diagnosis came when I was about 12. But at the same time I started to faint. I also started to get more joint dislocations.
With my new autonomic problems and the joint dislocations came something new. My first case of doctors, and my family, believing that my medical problem was psychiatric. As it turns out, this is not uncommon with EDS patients. It is very, very common that EDS is misdiagnosed as psychiatric. I spent years in therapy with a shrink who believed that I was fainting for attention and intentionally harming myself. The thing was that I could never, ever remember intentionally deciding to pretend to faint or to make myself fall or get hurt. That only reinforced the issue. It was drilled into me that I was doing this, and that I had an unconscious level of self hate. I didn't think I did, but I was told I did. So I must. It really affected how I saw myself for years. That inside myself lived a secret self injuring, self hating personality that I didn't have awareness of. It was an elaborate story that I was told about myself, and my family bought this because they didn't believe in my physical illness. Personally, I thought myself very strong and self aware. I worked so hard at accomplishing things, at self reflection, and at becoming a better person who wouldn't do these horrible things that I couldn't remember doing. I put so much energy into it. I studied religion and ethics and completely changed my way of life. The physical illness remained.
Getting into my late teens and early twenties, I asked my own doctors to investigate. These were small town doctors and it was the late 1990's. They diagnosed a series of "atypical" cases of autoimmune diseases. Things like, MS, lupus, and ulcerate colitis. Each diagnosis was debunked when I finally did get to an academic center for testing.
All this time I was still getting strange dislocations. I had long, long periods of chronic weight loss or gain with vomiting and diarrhea that went completely unexplained despite who knows how many colonoscpies and barium swallows. Lots of other things were going on, but I sometimes couldn't afford to go to the doctor, so I didn't when couldn't afford it. I was always in medical debt, but I never, ever got any better.
It was in around 2002 that I suffered my first real "EDS" injury, even if we didn't know what it was at the time. It started as a pain in my wrist, but quickly got so bad that I couldn't use my left hand. I'd had a minor injury at work that just turned into a runaway nightmare because it wouldn't get better. I ruined my life for two years. The injury was an unusual type of trapped nerve. I can't remember how many orthopedists I went to. I think I saw 4 different hand surgeons until I found one who could fix it. In the mean time, I was accused by one doctor of faking the pain and injury for financial gain of some kind. It cost me two jobs and I nearly became homeless. This is EDS. Doctors telling you you're faking when they can't figure out what's wrong.
The nightmare didn't stop there. It's really been nonstop. I've been given low dose Chemo therapy for the lupus I didn't have. It took 7 years to diagnose and get surgery for a trapped nerve in my lower leg. It was very similar to what happened in my arm, and I went to doctors saying I thought it was a trapped nerve. Every single one but the last said it was a strained muscle. For 7 years that muscle was strained. Because when you have EDS, you can't possibly know what's happening to your body. My extreme dysautonomia has been misdiagnosed as everything from anxiety disorder to malingering to intentional faking. This was to the point that I stopped seeking treatment for that problem until it became life limiting. It took two years to diagnose my life threatening neck injury. By the grace of G-d, I survived long enough to have that fixed. When I had a partial hip dislocation and went to a hip doctor, he not only refused to examine me, he told my husband that I was faking and refused to refer me to another doctor, and this doctor knew I had EDS, unlike everyone else I've mentioned. I did end up needing part of my pelvis fused so that I could walk again. Didn't I mention that I couldn't walk? No? He thought I was faking that. This is what happens when you have EDS. It's so bad that even doctors don't believe us when we come in with horrific injuries right in front of their eyes. I cannot figure out what it is about this disease that sparks the incredulity. It's not a pretend or controvertial disease. It's a well established diagnosis and accepted to exist, but when many doctors see it, they seem to be in shock or something. Generally, they tell me that they just don't believe that EDS can look or be this bad, so I can't possibly be as sick or hurt as I seem.
And then there was my pregnancy care. My first pregnancy ended with the death of my child at birth. I was 40 weeks pregnant. It was horrific. Yet when I was having my third child, I was denied specialty care because I didn't have a serious medical problem. At this time, the connective tissues at the base of my skull and in my pelvis were literally falling apart and after the pregnancy I needed them fused. But they said I was fine and needed nothing but routine care. This is AFTER my diagnosis. AFTER. Even when they knew what was wrong, they said I didn't need care. Hold on a second. This was my third pregnancy and two years after we found out I had EDS. The obstetrician knew I had it, knew about what happened to my first child, and said nope, EDS patients aren't really sick and don't need any special care.
My diagnosis came after my second child was born. An experienced pediatrician saw something in me or him and referred us to a geneticist. We went. The geneticist asked me a lot of questions and examined my son. Then he looked at me and said something to the effected of "I don't know if your son has Ehler-Danlos Syndrome. We can't tell at this age. But you do." He explained what it was. My body doesn't make the structural collagen in my connective tissues correctly. The ligaments and tendons in my joints as well as my skin are VERY fragile. This makes are joints what they call unstable - they dislocate and fall apart, and it's measured on a scale of 1 to 9, with 9 being the very worst. I score a 9; this is very unusual. He says I'm the walking picture of the disease. The diagnosis has since been conclusively confirmed, and second and third opinions had. I don't even have an unusual case, unless you count an unusually bad one. I have very typical, very severe EDS.
People with EDS have fragile bodies. Our joints are fragile. They come apart, rupture, dislocate, and get arthritis easily. Sometimes it happens in really unusual and even life threatening ways, as happened with my neck. Our internal organs can rupture. Thank G-d this has not happened to me. We have a high risk for very bad obstetric outcomes of all sorts, from premature birth, to uterine rupture, to fetal death. Our skin literally rips and tears, and it doesn't heal properly. Our brains can herniate out of our skulls (this is not happening to me, but it does appear to be starting to happen to my son). Our digestive systems can stop working, like stop moving, so that we have to be tube fed. Mine does appear to be in the process of stopping. I have problems swallowing and my stomach does not empty properly. And I am in pain all the time. This is my life. It took 34 years to diagnose this.
And I can still walk into a doctor's office and still have them not believe me, even with a note from my geneticist. I'm not inside the doctor's heads, but it seems like doctors are trained utterly incorrectly about EDS, in as much as they are trained. It's genetic and rare. Okay. I get that. But it's about as common as Cystic Fibrosis. You've heard of that. So have doctors. But most doctors I've seen have barely heard of EDS, and tell me things like that I don't LOOK like I have it. Well, I do actually. They're either thinking I should look like a Marfan's patient, which is a related problem, or like the rubber people in old circus side shows. You know the ones who could stretch their skin inches out? Yeah, they certainly had a form of EDS. I don't have that form. But I do have the typical EDS facial features, and the typical hand and feet features, but you have to look. They're subtle. They also just can't believe, I think, at how staggeringly bad it is when they actually see it. EDS makes your limbs fall out of the sockets and your head come loose at the neck. For real. It hurts. Bad. I think they're not told how bad it is, and get the impression it's mild. Worst of all, honestly, is a general failing in how doctors are trained. In general, if a patient has more than a certain number of symptoms at once that are from different parts of the body, many doctors are trained to be skeptical of the patient's story at all or to think of a mental disorder. So if you show up saying that your shoulder comes out of the socket, you have chronic diarrhea, vomit a lot, you faint when you stand, you have burning pains in your hands, and a bad headache in the back of your head, there are many doctors who will just refer you to psych or say to just get some rest. For an EDS patient, this could mean that you have multidirectional instability in a shoulder, cervical instability, gastroparisis, dysautonomia from any number of causes, and possibly that your brain is literally falling out of your skull. But you didn't get a workup at all because your doc didn't believe you because you were too sick.
I've had to stop working. It's about time. I owned a business that I'm shutting down. I spent a lot of time trying to shore it up. I spent money trying to get training so I could built a part time job so I could control my own hours and work around my disability. I really wanted to find something that would keep me among the working and tried everything. This has all failed. The training cost money. I also had to get therapy that wasn't covered by insurance for this last injury.
Is there hope? Well. Yes. My illness cannot be cured. The next injury is around the corner. What I can do is to spend what time I have with my family and children and try to enjoy the life I have. But a meaningful career is not in the picture. I need at least two more surgeries I know of right now: one to fuse another part of my neck and another to fix another trapped nerve in my hip. I'm at the doctor at least once a week. You can help. You can help with the debt we have from trying to get me working when I was still hopeful of being able of doing something, and from the bills. We have a fundraiser here. Please share it if you can. The Chesed Fund
To find out more about EDS please see: http://ehlers-danlos.com/
It was apparent even when I was a child that something was wrong. I had delayed motor development, lower extremity weakness, small stature, poor wound healing, and neurological symptoms. I'd also had Group B Strep disease as an infant and developed meningitis. However, I did recover from that according to the doctors. However, somehow, my childhood health issues were still incorrectly attributed to this illness and not further investigated.
The effort that actually was made by my parents was that I was encouraged to take part in athletic activities to address my obvious "weakness" and "clumsiness." This did become a lifelong thing, at least until recently, and was a double edged sword. The general level of exercise made me stronger. That's a good thing. However, it increased my potential for injury by a lot, and injuries I did get. A lot of injuries. These were not only poorly treated and misunderstood, but often non-healing and contributed to my poor quality of life now.
As I got older and gained some voice and control over my health care, I started insisting on finding medical care, knowing that something was wrong. The first diagnosis I managed was migraine. I now believe that I never had migraine to any significant degree, but that I suffered with cervicogenic headache and the gut problems associated with EDS, but it was a start. That diagnosis came when I was about 12. But at the same time I started to faint. I also started to get more joint dislocations.
With my new autonomic problems and the joint dislocations came something new. My first case of doctors, and my family, believing that my medical problem was psychiatric. As it turns out, this is not uncommon with EDS patients. It is very, very common that EDS is misdiagnosed as psychiatric. I spent years in therapy with a shrink who believed that I was fainting for attention and intentionally harming myself. The thing was that I could never, ever remember intentionally deciding to pretend to faint or to make myself fall or get hurt. That only reinforced the issue. It was drilled into me that I was doing this, and that I had an unconscious level of self hate. I didn't think I did, but I was told I did. So I must. It really affected how I saw myself for years. That inside myself lived a secret self injuring, self hating personality that I didn't have awareness of. It was an elaborate story that I was told about myself, and my family bought this because they didn't believe in my physical illness. Personally, I thought myself very strong and self aware. I worked so hard at accomplishing things, at self reflection, and at becoming a better person who wouldn't do these horrible things that I couldn't remember doing. I put so much energy into it. I studied religion and ethics and completely changed my way of life. The physical illness remained.
Getting into my late teens and early twenties, I asked my own doctors to investigate. These were small town doctors and it was the late 1990's. They diagnosed a series of "atypical" cases of autoimmune diseases. Things like, MS, lupus, and ulcerate colitis. Each diagnosis was debunked when I finally did get to an academic center for testing.
All this time I was still getting strange dislocations. I had long, long periods of chronic weight loss or gain with vomiting and diarrhea that went completely unexplained despite who knows how many colonoscpies and barium swallows. Lots of other things were going on, but I sometimes couldn't afford to go to the doctor, so I didn't when couldn't afford it. I was always in medical debt, but I never, ever got any better.
It was in around 2002 that I suffered my first real "EDS" injury, even if we didn't know what it was at the time. It started as a pain in my wrist, but quickly got so bad that I couldn't use my left hand. I'd had a minor injury at work that just turned into a runaway nightmare because it wouldn't get better. I ruined my life for two years. The injury was an unusual type of trapped nerve. I can't remember how many orthopedists I went to. I think I saw 4 different hand surgeons until I found one who could fix it. In the mean time, I was accused by one doctor of faking the pain and injury for financial gain of some kind. It cost me two jobs and I nearly became homeless. This is EDS. Doctors telling you you're faking when they can't figure out what's wrong.
The nightmare didn't stop there. It's really been nonstop. I've been given low dose Chemo therapy for the lupus I didn't have. It took 7 years to diagnose and get surgery for a trapped nerve in my lower leg. It was very similar to what happened in my arm, and I went to doctors saying I thought it was a trapped nerve. Every single one but the last said it was a strained muscle. For 7 years that muscle was strained. Because when you have EDS, you can't possibly know what's happening to your body. My extreme dysautonomia has been misdiagnosed as everything from anxiety disorder to malingering to intentional faking. This was to the point that I stopped seeking treatment for that problem until it became life limiting. It took two years to diagnose my life threatening neck injury. By the grace of G-d, I survived long enough to have that fixed. When I had a partial hip dislocation and went to a hip doctor, he not only refused to examine me, he told my husband that I was faking and refused to refer me to another doctor, and this doctor knew I had EDS, unlike everyone else I've mentioned. I did end up needing part of my pelvis fused so that I could walk again. Didn't I mention that I couldn't walk? No? He thought I was faking that. This is what happens when you have EDS. It's so bad that even doctors don't believe us when we come in with horrific injuries right in front of their eyes. I cannot figure out what it is about this disease that sparks the incredulity. It's not a pretend or controvertial disease. It's a well established diagnosis and accepted to exist, but when many doctors see it, they seem to be in shock or something. Generally, they tell me that they just don't believe that EDS can look or be this bad, so I can't possibly be as sick or hurt as I seem.
And then there was my pregnancy care. My first pregnancy ended with the death of my child at birth. I was 40 weeks pregnant. It was horrific. Yet when I was having my third child, I was denied specialty care because I didn't have a serious medical problem. At this time, the connective tissues at the base of my skull and in my pelvis were literally falling apart and after the pregnancy I needed them fused. But they said I was fine and needed nothing but routine care. This is AFTER my diagnosis. AFTER. Even when they knew what was wrong, they said I didn't need care. Hold on a second. This was my third pregnancy and two years after we found out I had EDS. The obstetrician knew I had it, knew about what happened to my first child, and said nope, EDS patients aren't really sick and don't need any special care.
My diagnosis came after my second child was born. An experienced pediatrician saw something in me or him and referred us to a geneticist. We went. The geneticist asked me a lot of questions and examined my son. Then he looked at me and said something to the effected of "I don't know if your son has Ehler-Danlos Syndrome. We can't tell at this age. But you do." He explained what it was. My body doesn't make the structural collagen in my connective tissues correctly. The ligaments and tendons in my joints as well as my skin are VERY fragile. This makes are joints what they call unstable - they dislocate and fall apart, and it's measured on a scale of 1 to 9, with 9 being the very worst. I score a 9; this is very unusual. He says I'm the walking picture of the disease. The diagnosis has since been conclusively confirmed, and second and third opinions had. I don't even have an unusual case, unless you count an unusually bad one. I have very typical, very severe EDS.
People with EDS have fragile bodies. Our joints are fragile. They come apart, rupture, dislocate, and get arthritis easily. Sometimes it happens in really unusual and even life threatening ways, as happened with my neck. Our internal organs can rupture. Thank G-d this has not happened to me. We have a high risk for very bad obstetric outcomes of all sorts, from premature birth, to uterine rupture, to fetal death. Our skin literally rips and tears, and it doesn't heal properly. Our brains can herniate out of our skulls (this is not happening to me, but it does appear to be starting to happen to my son). Our digestive systems can stop working, like stop moving, so that we have to be tube fed. Mine does appear to be in the process of stopping. I have problems swallowing and my stomach does not empty properly. And I am in pain all the time. This is my life. It took 34 years to diagnose this.
And I can still walk into a doctor's office and still have them not believe me, even with a note from my geneticist. I'm not inside the doctor's heads, but it seems like doctors are trained utterly incorrectly about EDS, in as much as they are trained. It's genetic and rare. Okay. I get that. But it's about as common as Cystic Fibrosis. You've heard of that. So have doctors. But most doctors I've seen have barely heard of EDS, and tell me things like that I don't LOOK like I have it. Well, I do actually. They're either thinking I should look like a Marfan's patient, which is a related problem, or like the rubber people in old circus side shows. You know the ones who could stretch their skin inches out? Yeah, they certainly had a form of EDS. I don't have that form. But I do have the typical EDS facial features, and the typical hand and feet features, but you have to look. They're subtle. They also just can't believe, I think, at how staggeringly bad it is when they actually see it. EDS makes your limbs fall out of the sockets and your head come loose at the neck. For real. It hurts. Bad. I think they're not told how bad it is, and get the impression it's mild. Worst of all, honestly, is a general failing in how doctors are trained. In general, if a patient has more than a certain number of symptoms at once that are from different parts of the body, many doctors are trained to be skeptical of the patient's story at all or to think of a mental disorder. So if you show up saying that your shoulder comes out of the socket, you have chronic diarrhea, vomit a lot, you faint when you stand, you have burning pains in your hands, and a bad headache in the back of your head, there are many doctors who will just refer you to psych or say to just get some rest. For an EDS patient, this could mean that you have multidirectional instability in a shoulder, cervical instability, gastroparisis, dysautonomia from any number of causes, and possibly that your brain is literally falling out of your skull. But you didn't get a workup at all because your doc didn't believe you because you were too sick.
I've had to stop working. It's about time. I owned a business that I'm shutting down. I spent a lot of time trying to shore it up. I spent money trying to get training so I could built a part time job so I could control my own hours and work around my disability. I really wanted to find something that would keep me among the working and tried everything. This has all failed. The training cost money. I also had to get therapy that wasn't covered by insurance for this last injury.
Is there hope? Well. Yes. My illness cannot be cured. The next injury is around the corner. What I can do is to spend what time I have with my family and children and try to enjoy the life I have. But a meaningful career is not in the picture. I need at least two more surgeries I know of right now: one to fuse another part of my neck and another to fix another trapped nerve in my hip. I'm at the doctor at least once a week. You can help. You can help with the debt we have from trying to get me working when I was still hopeful of being able of doing something, and from the bills. We have a fundraiser here. Please share it if you can. The Chesed Fund
To find out more about EDS please see: http://ehlers-danlos.com/
