My Ehlers-Danlos Story

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Now that I finally have a diagnosis of Ehlers-Danlos Syndrome (EDS) and have a complete picture of my health, what I believe went wrong to make me so sick and the ways I’ve worked to combat many of those problems, I felt it might be constructive for myself and others if I took the time to examine my personal history. EDS is not something that “just happens suddenly” for most of us. There are many signs and clues along the way and if you take heed and learn early how to care for an Ehlers-Danlos body, the odds of living a longer, more healthful life with full mobility are much more likely. It is said that EDS is not a degenerative disorder, however it is a disorder that can bring about loss of function due to mechanical failure, and those failures can never be fully overcome. That’s why early diagnosis and active protection in the form of prevention are vital for zebras.

Unfortunately, I didn’t have the benefit of knowing early. Though I felt from a very early age that there was something wrong, my family had a long standard of denying our pain, not going to doctors unless something seemed serious and life-threatening and encouraging each other to just suck it up, because “that’s life; just deal with it.”

When I spent my childhood catching every flu and virus rampant in our public school system and developed bronchitis and sinusitis four to six times a year, no one questioned it. When I constantly sprained my ankles and complained of leg pain, I was told to suck it up. Any link between frequent bouts of tendonitis and our strange hypermobility was never questioned. When my gymnastics coach got a load of my flexibility, she was thrilled to have me join the team, only to tell my stepmother at the end of the year that my poor proprioception and motor skills made me terrible gymnast material and I wouldn’t be invited back. When I complained that standing in one spot or working on my feet for longer than an hour brought me severe pain, I was being a drama queen, but these were all early signs that I had the same incurable genetic disorder that many of my family members had, only it wouldn’t come to affect them in any noticeable way until they were much older, or at least if it had, they didn’t feel it was enough to bother with or were told the same things I had been told; that what they were feeling was nothing unusual and nobody cared.

These were just a few of the signs of EDS in my early life. Other things are more obscure, but just as important. For instance, I was always dropping things, running into doorways and tables and tripping on perfectly flat ground. I was a real klutz. This is due to joint laxity and poor proprioception. When your joints are loose, your brain can’t properly place or guide your body.

I also suffered from a wide variety of allergies from an early age and they have only continued to grow throughout my adulthood. I started out with allergies to certain soaps and cleaning products and my allergies grew to include most common outdoor allergies, all synthetic dyes and perfumes, some nuts and fruits. Now I have a wide range of allergies and intolerances that range in severity from anaphalactic reactions to headaches and nausea and I  strongly suspect I have the common comorbid condition of a mast cell activation disorder and am seeking the help of a specialist in that area. This is likely what caused all of my respiratory infections, combining inflammation and congestion with a weakened immune system.

I also suffered from a lot of gastric problems. I often overate because my stomach felt unsatisfied after eating. I don’t know if it’s because of the bendy nature of our soft tissue, a lack of proper signaling in my nervous system or because of acid reflux issues, but my stomach often insisted I was starving and I had a great deal of difficulty denying it. My hormones also fluctuate quite wildly, which is also common in EDS and could have been a contributing factor. Whatever the cause, weight gain and obesity are fairly common in EDS and is a family-wide issue for mine.

My first taste of serious joint injury came after my first year as a certified nurse’s aide at nineteen. According to the doctor who treated me, I damaged every muscle in my lower back and it was over two weeks before I could stand without excruciating pain. I have a feeling I herniated both my L4-L5 and L5-S1 that day, but it would take me another decade to convince a doctor to do an MRI or CT to check, despite putting my back out at least yearly thereafter.

In my teens and twenties, I often missed work or school because I was plagued by chronic infections and periods that were extremely heavy and brought intense cramping that I simply couldn’t bear on top of 8 hours of excruciating foot and leg pain that would leave me nauseous, shaking and sweating. In desperation or emotional outbursts fueled by pain, I’d quit jobs, sometimes walking out without notice, convinced I just couldn’t survive another day. My mother told me I was incapable of controlling my emotions and too stupid to recognize the value of a paycheck. I felt worthless and stupid and became stuck in a cycle of failure because manual labor or customer service jobs that would only bring more pain and end in yet more failure were all I could get hired to do.

I began experiencing odd dental problems. Because the women on my mother’s side of the family had this uncanny history of losing their teeth after giving birth to their first child, I was downright fanatical about my dental care. Still, I was amassing cavities at an insane rate and had developed gum disease at a very early age. My teeth would even crack and splinter. I broke a tooth on a piece of candy and had a tooth disintegrate around a filling. Worse, my pallet was so narrow that when my wisdom teeth started to come in, they threatened to oust my molars, because they wanted to grow in right on top of them. At the dentist, it would take three times as much Novocain to numb me and I would have to wait twice as long for it to take effect. Then it would take all day for it to wear off. My teeth have been so sensitive for decades now that despite using the best sensitive toothpastes and soft electric brushes on the market, simply breathing through my mouth is painful. Eating is at times utterly intolerable and sometimes they ache for seemingly no reason at all. I think all the time about removing those I have left and just being done with it, though I have only lost 3 to date.

By the time I made it through my first degree—an attempt to escape manual labor and a hope to do something more personally and socially meaningful—my fatigue and pain were to the level that even working a desk job was a great challenge. The physical portions of my administrative job was becoming more and more difficult for me to perform and I worried constantly that people thought me lazy or uninterested in doing my best, though that’s always been contrary to my very nature. In college, I tore my Achilles tendon making the usual hike up two stories of stairs in a building that was constructed long before there were elevators or laws about them and the pain of that injury never subsided completely, nor any other, just as it had been with every torn tendon or ligament. In the course of trying to stay healthy and active, I suffered tendonitis in so many parts of my body, I’m no longer sure I have any tendons I haven’t injured.

In college, I began to push a bit about whether there might be something more wrong with me. I remember having a couple of doctors run panels on me for connective tissues disorders, but none of the usual suspects appeared. Still, I had felt something was wrong for years and I was beginning to suspect I was right. In 2001, at the age of 29, I developed focal segmental glomerulosclerosis, a rare kidney disease that was even more rare for my particular demographic. It moved rapidly, killing 10% of my kidney function in less than 6 months. I was certain it was going to end in kidney failure, but miraculously, it reversed in less than a year and I made a complete recovery. I now believe that it was caused by the pesticide laden well water I was drinking in our farmhouse and am not surprised at all that this time brought about my first fight with fatigue, achy joints and irritable bowel syndrome, as well.

Still, it wasn’t until almost my mid-thirties that I began to insist to my doctors that there was something seriously wrong. I’d begun working out regularly and eating healthy. I lost sixty pounds and lived a healthier lifestyle than ever, but still the pain and fatigue could not be subdued and my back was becoming a near daily problem, shooting pain from my lower spine and spilling down my right leg. I related my ever growing fatigue with the pain I lived with daily that was sometimes completely crippling and at others a dull ache. A CT revealed that my two lowest discs were herniated, along with one in the thoracic region and two in my cervical spine. Eventually the pain turned from occasional to relentless and severe, forcing me to leave my job, a third of the duties beyond my ability to handle. When I finally gave in and accepted a surgical option to repair the discs, I thought I’d be home-free from that terrible tiredness, able to work and function normally again.

The first surgeon I saw wanted to do a spinal fusion, but I wasn’t comfortable with having hardware put in, especially since I already had so much deterioration in my back, so I went to another surgeon. The second surgeon agreed. He felt a discectomy/lamenectomy would be appropriate. In September of 2009, I came out of back surgery with raging nausea and a right leg that buzzed like an angry beehive of numbness, but the unending severe pain I’d become accustomed to had vanished and has remained a rare visitor ever since. Only on special occasions does my back pain return, but that angry beehive fell to a dull buzz and with fascia therapy, I’ve managed to work the numbness down to a couple of spots on my right foot. Hopefully with time, I won’t have any left.

A few weeks out of surgery and I was bound for physical therapy. The only problem; I was still in pain in many other parts of my body and the fatigue I had associated with living in that level of constant pain never subsided. If I look back at my history it makes perfect sense, but at the time, I was flabbergasted. I couldn’t walk a mile without being wiped out for the remainder of the day and so complained to my General Practitioner (GP) at the time, a newbie in the residency program at the local hospital.

“So, I’m through the surgery and my back feels worlds better, but I don’t feel better. I’ve got no energy to do anything and no matter how hard I try to build up stamina, I only seem to have less energy instead of more. I ache all the time, all over my body, my joints all hurt something awful and I can’t seem to get back to where I was before the surgery.” This was all the description she needed to perform the tender point test for Fibromyalgia. She would press in a spot and get a rise out of me. “Ow!”

After six or so of these ow’s, she stopped, explaining to me that she was only applying the minutest of pressures to these tender points. Did it really hurt so bad, she inquired? It did. After apologizing, she went on to test the remaining tender points, excitement becoming a mixture with the keen intelligence that showed on her face. By the time she finished, she had confirmed pain in 14 of the 18 spots she knew to test.

It felt like déjà vu, this test. Barely a decade earlier I’d seen it given to my ex partner. Even then I wondered if I too should be tested, but fear of stigma forced my silence.

“Do you know what this means?”

“I have a feeling you’re going to tell me I have Fibromyalgia.”

“That’s right; undeniably so. This is the cause of your pain, your fatigue, your sleeplessness. I’m going to write you a prescription for a drug that usually helps quite a lot with the sleeplessness, which should also decrease your pain and of course the fatigue. It was once used as an anti-depressant, but it’s been found to be much more helpful for FM.” She handed me the prescription that read; Amitriptyline, 50mg. “Take one of these every night before bed and let me know how it does.” She wrote me an additional script for pain medication, making me sign a contract that stated I wouldn’t accept pain medication from any other doctor.

I’ve never been so thrilled and petrified at the same time. Finally, a doctor who validated what I’d been feeling for years, an actual diagnosis, which meant something could be done about it. Boy was I naïve. The wonderful resident who diagnosed me graduated and moved on to a shared practice, one that didn’t accept my insurance. Her former Resident Supervisor was not of the same opinion as to the nature or truth of an FM diagnosis and when I went in to ask for additional treatment, I faced my first instance of prejudice about my illness. I wasn’t sick, she told me, I just needed to exercise and lose weight. For two years this woman tormented me every time I came in, regardless of what resident I was assigned to, with lectures about my diet and my physical fitness. Of course through all this she could have at least attempted to be helpful in that regard and given me some meaningful information or written a script for physical therapy, or anything of the kind. Instead, she’d deny me any and all treatments and refused to give me any more pain reliever, intimating that I was a drug addict seeking a fix.

You might think that I should have stormed out of that office never to return right off the bat and maybe I should have. But to think so is to deny a serious issue with the American medical system and to ignore the history of the medical community’s denial of Fibromyalgia as an actual disease instead of a catch all for “we don’t know what’s wrong with you”. This is something I knew all along and it bred in me a certain level of doubt, despite what I was experiencing with my own senses. So I put up with it, swearing I’d find another doctor soon, but dreading that a new doctor would think the same way. It wasn’t until what little relief I’d been getting from the Amitriptyline began to fail me that I was finally forced to make a move.

When I finally did, I was sent to a rheumatologist who gave me an additional diagnosis of Chronic Fatigue Syndrome (ME/CFS), but I wasn’t satisfied with this diagnosis, as it’s a sudden onset disease and I knew whatever it was that I had I’d probably had my whole life and that what was going had been compounding over the span of my life. Still, I learned everything I could about the disease in an attempt to take the best care of myself possible. The rheumatologist tried many drugs with me, but all of them failed because they were either too much for me to bear or simply had too many side effects.

During this time, I also started experiencing dizzy spells when I was standing or would try to reach up in a cupboard for something on a high shelf. I passed out in the middle of the post office, simply crumpling to the ground like I was one of those inflatable flailing arm tube men outside a Jiffy Lube and someone cut the air off. It took five years to get diagnosed with POTS.

I also began to experience severely dry skin that only got worse with exfoliation and had to change from my usual bath products to special oil based shower gels to avoid growing great dry patches that I suspect are psoriasis, but have never been biopsied. I also have to condition my skin with coconut oil and curel daily to avoid outbreaks. As my mother suffered from psoriasis, too she taught me the dos and don’ts and so far, I’ve managed to get along.

My late thirties also brought with them scary and excruciating bowel infections such as diverticulitis and c-diff (clostridium difficile), all too frequent staph fueled boils, UTI’s and kidney infections; All this plus the amazing ability to contract any flu, virus or infection of every person who ever stood within a 10 foot radius of me or my husband who seems ever the viral incubator though he’s rarely ever sick. I was constantly on antibiotics and I began experiencing frequent subluxations and dislocations, even in my ribs. My migraines went from occasional to almost daily to where they never stopped, leaving me so sensitive to light and sound that I couldn’t leave my bedroom and would spend days vomiting. Between that and my untreated POTS, life was completely unbearable and I was bedridden for all but a few hours a day most of the time.

In 2015, constant abdominal pain, irregular periods and continued severe cramping finally drove me to seek a hysterectomy. At times, I would bleed for a month. It turned out I had endometriosis, but because I wanted to have children, no gynecologist ever felt it necessary to tell me this. I still scratch my head over this. Patients need all the information to make a decision and no decision was ever presented to me, only the question of whether or not I wanted kids. I was always honest that yes I wanted children, but it didn’t seem possible, as I had tried and been unable to conceive. Why, in all the OB/GYNs I saw over tge years did none tell me point blank that I likely had endo? I have no faith left in the medical industry. Along with endometrial tissue, there was a ton of scar tissue. From what, they couldn’t say.

Then sometime in 2016, I came across some memes during one of my brief excursions on Facebook talking about a connective tissue disease that I’d never heard of called EDS. I decided to give it a look, since I’d been through testing for literally every disease my rheumatologists, neurologists and GP’s could think to test me for. After reading extensively about EDS, I felt like I’d finally found the disease which explained not just some of what had been going on with my body for some of my life, like ME/CFS had, but what had been happening my whole life. It also explained a great deal about my family, all the way back to my great grandmother.

The only problem was, there didn’t appear to be anyone who knew how to diagnose the disease. It’s said that EDS is a rare disorder. Many of us disagree. The problem is not so much that it’s rare, but rather that it’s rarely diagnosed because it’s rarely taught in American medical schools. I’d been trying to get a diagnosis for at least 17 years, been seeing doctors for EDS related problems my whole life, and didn’t get a diagnosis until I figured it out for myself and sought out a qualified doctor who knew how to diagnose it when I was 45.

Had I known sooner, I might have joints that aren’t so severely damaged by years of abuse. Had I known sooner, I might not have such severe POTS. Had I known sooner, I might still have a fully functioning digestive system. Had I known sooner, I might still be working. Had I known sooner that endometriosis was a common comorbid condition, I might not have fought having a hysterectomy as long as I did. So many “had I known’s.”

Now that I have the proper diagnosis, my hope is that new symptoms won’t take so much time to address and treat because it’s fairly well known what comorbid conditions are common to EDS. It’s also much easier for me to get connected to the right specialists who know about my condition, now that I have the support of my local EDS group. No, EDS is no curable and there’s really very little that can be done to reverse any of the damage already done, but I can work to preserve what I have, try to prevent further damage and work with specialists to try to treat what I have as well as possible. It’s not great, but it’s certainly better than going to doctors who want to blame the consequences of my disease as the cause of my problems.

I no longer feel so alone. Though I felt certain this is the disease I had once I was finished researching it and began to enact positive changes that made a big difference in my life right away, I still felt alone and a bit helpless about the things I couldn’t change until I got that official seal of approval. I could change my diet, I could do my own fascia therapy, I could learn about safe exercise for EDS and implement it in my life. I could even research and start taking a wide variety of supplements to help myself feel better and I did. But I can’t do anything about the suspected chiari or CCI all by myself. I can’t do anything more to help my suspected gastroparesis than I already have. I can’t treat my mast cell any better than I already do. As a layperson with only so much knowledge and no medical equipment, I will always need a doctor to partner with me in my care. And let’s face it; it’s hard enough to get them to believe you’re sick in the first place. Having a primary diagnosis can be the difference between them believing you have all these strange comorbid conditions and not; a huge obstacle to getting the testing you need to find out and start getting treated for them. That’s why I’m a huge proponent of getting diagnosed, no matter how hard you have to fight and no matter how long.

There are obvious signs of EDS in most of my family members and we are probably all affected to some degree. My mother developed a lot of the same problems I had, only she was 20-30 years older than I was. My sister has a lot of symptoms, but they haven’t been disabling, thus far. My brother likely has MCAD. My grandmother and great grandmother both had a wide variety of problems that fit EDS, my grandmother spending the last 25 years of her life in a wheelchair because of spine and hip deterioration. For the most part, no one has been incapable of working throughout their adult lives except for me and it really messed with my head for a while.

So what’s different about me? First, it’s important to note that how EDD affects anyone can be drastically different from how it affects another, even in the same family. Also, environmental factors, how you take care of yourself and emotional stress can have devastating effects on a zebra. My upbringing was anything but emotionally stable and secure (you can read a bit about that here, but it’s somewhat repetitive to this) and while we all had it bad, it seems like I got the lion’s share of the abuse and neglect. I had the responsibility of raising myself and my little brother, I was looked on as the family-carer and acted as the family scapegoat after my eldest sister left. I also had to deal with being intermittently homeless as a high school student and dealt with a great deal of shame and hurt that my mother refused to protect me from her homicidal husband another way.  I also dealt with a great deal of shame surrounding my sexuality well into my twenties and a great deal of physical and emotional stress because of my weight and over sexual abuse I’d experienced as a child and a teen. My siblings all have some of these things, but not all and while my sister had gastric bypass surgery to lose her weight in her early thirties and males generally don’t see the same level or severity of symptoms as women, it’s not surprising that neither of them would be as affected.

Also, with my immune system being so poor (partially contributed to by diet, I’m sure) and having so many infections, the antibiotics probably contributed a great deal to the damage of my mitochondria, accelerating the damage to my soft tissues and neurological cells. I’m also certain that all those manual labor jobs, my love to go club hopping and dancing, hiking and generally being constantly on the go did nothing good to help my joints. From what I know now about how to protect the joints, I was doing everything wrong.

In addition to this, nutrition is extremely important with EDS and what our government recommends isn’t really healthy because it’s been motivated by what our most plentiful crops are here in the US rather than what’s most nutritious for our bodies and it took me a long time to realize that. Not only do we need to be very aware of what foods we’re putting in our bodies, but we need to be aware of the chemicals that come with them, avoiding exposure to pesticides, preservatives and non-food addatives that can make us very sick and compound our already complex problems. I talk about this in depth here and here. We need to be aware that we often develop conditions that cause malabsorption and cause malnutrition. We need to supplement what we lack to prevent many of our symptoms, as they can sometimes be signs of vitamin and mineral deficiencies.

It could have been any or all of these things. It could have been none. Likely, it lies somewhere in the middle. Whatever the case, I no longer feel guilty about my illness in whole or part. It simply does me no good. All I can do is to try my best now and in the future to take care of myself the best way I know how to try to achieve the best outcomes and future that I may. That’s all any can ask of ourselves.

In my next article, I’m going to cover everything I’ve done over the last year (since I suspected EDS was the right diagnosis) to start getting my health turned around, including links to articles I’ve written that offer a step by step approach to how you can, too.

 

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