How I became a Zebra
From the Ehlers-Danlos Society:
The Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how they affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility.
If you'd like to learn more about the symptoms and subtypes of EDS, click this link: What is EDS?
I've been "clumsy" my entire life. Growing up, I developed awkwardly. I was tall and gangly, with knobby joints and long, distinct facial features. I struggled to gain weight. I felt tired all the time, and for most of my life, that was attributed to the fact that my home life was really shitty. By the time it got any better, I was a teenager and then my fatigue was brushed off as my being a hormonal teenager. I contracted Mono when I was 17, and then had a baby by the time I was 23. So, I've always been tired; but this has always been an enduring, constant, bone- tired kind of exhaustion that I can never seem to shake.
My first spontaneous dislocation happened when I was 23 and my daughter was 10 or 11 months old. My mother had just had surgery, my daughter was playing in her playpen, we were all in the living room. I walked over to the couch and casually sat down. the second I let my weight fall into the sofa, my left kneecap slipped out of the socket, and I started screaming, I couldn't move my leg and my foot was suddenly in a spasm, toes stuck pointing upward like some deranged ballerina standing en pointe.
My mother was scolding me to stop screaming, I was being overdramatic and scaring the baby. I told her I had dislocated my knee. She didn't believe me, so she got up and hobbled over to me, and once she saw my knee, she started asking me what to do. I told her to call an ambulance and she wouldn't because she didn't want me to have a bill. After a few seconds, I realized she wasn't going to be any help, so I took a deep breath and carefully pushed my knee from the outer side of the joint back into place.
The next day I saw an Orthopedist. He told me that because I was still considered post-partum, my body was likely just still loose from the hormones released during labor and birth. This, I didn't really question, because at birth, her pediatrician noticed that her hips were really flexible. He also attributed this to her body being especially retentive of and sensitive to my hormones because she was a girl.
I did physical therapy to strengthen my knees and had some small issues for a while beyond that but I quickly learned when my knee was going to go out and had the foresight to be able to correct my posture and keep it from completely dislocating.
Over the subsequent decade, I developed some strange issues with my stomach and reproductive system. I was hospitalized several times with stomach pain of undetermined origin. I was tested for gallstones and gallbladder disease, experienced weird thyroid nodules and hormonal acne that left my skin with deep, gouge-like scars. Eventually I was labelled a difficult patient by most of my physicians, and discharged from three practices because I was pushing doctors to keep looking at things, and most times didn't agree with me.
For four years, I stopped going to all doctors except my psychiatrist. I was convinced it was all in my head, and started taking medication that made my mood better but not any of my pain, and actually exacerbated my fatigue during dosage changes.
I started to call out of work a lot. I made mistakes with money. I was living with a boyfriend and our relationship fell apart because I was frequently too tired to do much when I got home from work, and little things like not being able to agree on dinner became situations where I would end up crying because I didn't feel well.
But I looked fine. I was a young, seemingly healthy person that just seemed like they didn't care. I couldn't describe the constant muscle and joint aches. I started not being able to go to the grocery store. I would come home frazzled and without most of the essential things on my list. My boyfriend would ask me to just go back and the thought of going back would send me into a meltdown of epic proportions because the assault of the bright lights, the people, the music, the slick floors, the beeping of the registers; it was too much after working all day and sitting in 45 minutes of traffic. I just wanted to go to bed. I didn't understand why it took so much effort to do what everyone else can just... do.
I developed night sweats that soaked my clothing, sheets, and mattress. I'd wake up soaked, freezing cold, shivering, with my knees and hips in agony and frequently on the verge of vomiting. I started being unable to eat more than a few bites of any food at a time before I either got nauseous or threw up everything I had managed to eat. I lost 50 pounds in eight months. My hair was falling out in clumps and breaking in the middle. I was pale. I was covered in bruises and my skin was dry and dull. I was anxious and felt pretty worthless as my apartment and my relationship went to hell around me. I wanted to help my boyfriend but my energy levels vary so dramatically, I couldn't be sure I'd be reliable when he needed me. One day, I was helping him carry things to the car, and my ankle gave out on me, causing me to fall with expensive things in my hands.
Eventually, he got so sick of the fact that I had deteriorated so quickly, because I still looked so able, that I moved out because I couldn't stand the feeling of failure I felt every day for not being able to do the things that I should have, and the stress on both of us was just too much.
Before I had my daughter, I worked in retail and ran circles around every salesperson on the team. I even worked 4 am - 12 pm at one job and then 2 pm - 10 pm at another for over a year before I got hurt at my morning job and took on the afternoon one full time. I worked 6 days a week, and when I got pregnant, I slowed down but kept 40 hours until the month before I had her.
I didn't understand what happened to me. I still kind of don't. I was young and healthy and here I was in my thirties with my life crumbling, and I still had no answers and no resources to pursue more.
Last year, I found out that my favorite singer Sia has Ehlers-Danlos Syndrome. I had never heard of it before so I googled it, and you probably could have seen the lightbulb above my head from space. I couldn't breathe. I felt like I was reading a word for word description of all the weird things I had always noticed about my body. I had no idea how to approach this with my primary care doctor, who has never really taken me seriously, so I sat on it for months, keeping a daily symptom journal, photographing my bruises and joint hypermobility.
Then, in September of 2019 I was at a labor day party, drinking and having fun and I decided to ride a friend's bike. I hadn't been on a bike in 20 years, but... there's that saying, "it's like riding a bike," like, a skill you don't lose when you master it. I spent my childhood on my bike, I loved riding my bike, so I got on the bike and eventually lost my balance and fell off the damn thing. I cut my knee wide open. When the scar was still papery and purple in January, I went to my dermatologist. He's always been a little obnoxious but he also knows that I'm fairly well versed in medical stuff, so he talks to me like a nurse, not a patient. I showed him my knee and the scarring on my face, and said, "I have an Ehlers-Danlos Syndrome, and I'd like a referral to genetics, please."
He seemed kind of, "ehhhhhhh" until I stood up to leave the visit. He happened to glance at my knees and he said, "Wait. Please come sit down, I think you may be right." and then we talked for another 20 minutes.
I left his office with a referral and he was making a personal phone call to a dermatologist who treats rare skin disorders and those associated with chemotherapy treatment.
That appointment happened in February and my Genetics appointment was on April 3. She did a video call with me and talked to me for two hours. She's AMAZING. She's had me send DNA samples to be tested.
The type of EDS I have (we think) is Hypermobile type with co-occuring Postural orthostatic Tachycardia Syndrome (PoTS) which caused the night sweats, and is why I can't keep my balance when my heart rate is high. What's also fun is that if I stand up too fast, I hit the floor. Or, sometimes, if I stand up and walk into the kitchen, I make it into the kitchen and pass out in there.
So there's the journey - in a giant shell. It's a long post, I know, but this is actually the shortest version I could tell.
So, while I'm on the right track, I'm still dealing with the fatigue. I was having trouble working from home during the pandemic for various reasons and was let go. I am working a part time job and trying to figure out my next step. This week, I've woken up three days in a row with my left middle finger dislocated. Not sure how it happens but I'm now realizing I should invest in braces for my fingers. They often lock up on me and this is likely the first dislocation of many I'm going to experience.
Yesterday, I applied for the EDS Society's patient advocacy training program. I'd like to help others with this diagnosis begin to navigate their journey. It comes with many different types of specialty care that can be expensive and many patients are not well informed about disability benefits they may be eligible for which can lessen the financial impact of having this genetic disease.
And there it is. In medical school, doctors are trained to look for the most simple explanation possible to diagnose symptoms. "When you hear hoofbeats, think horses; not Zebras."
Well. I'm the Zebra.
The Ehlers-Danlos syndromes are a group of connective tissue disorders that can be inherited and are varied both in how they affect the body and in their genetic causes. They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility.
If you'd like to learn more about the symptoms and subtypes of EDS, click this link: What is EDS?
I've been "clumsy" my entire life. Growing up, I developed awkwardly. I was tall and gangly, with knobby joints and long, distinct facial features. I struggled to gain weight. I felt tired all the time, and for most of my life, that was attributed to the fact that my home life was really shitty. By the time it got any better, I was a teenager and then my fatigue was brushed off as my being a hormonal teenager. I contracted Mono when I was 17, and then had a baby by the time I was 23. So, I've always been tired; but this has always been an enduring, constant, bone- tired kind of exhaustion that I can never seem to shake.
My first spontaneous dislocation happened when I was 23 and my daughter was 10 or 11 months old. My mother had just had surgery, my daughter was playing in her playpen, we were all in the living room. I walked over to the couch and casually sat down. the second I let my weight fall into the sofa, my left kneecap slipped out of the socket, and I started screaming, I couldn't move my leg and my foot was suddenly in a spasm, toes stuck pointing upward like some deranged ballerina standing en pointe.
My mother was scolding me to stop screaming, I was being overdramatic and scaring the baby. I told her I had dislocated my knee. She didn't believe me, so she got up and hobbled over to me, and once she saw my knee, she started asking me what to do. I told her to call an ambulance and she wouldn't because she didn't want me to have a bill. After a few seconds, I realized she wasn't going to be any help, so I took a deep breath and carefully pushed my knee from the outer side of the joint back into place.
The next day I saw an Orthopedist. He told me that because I was still considered post-partum, my body was likely just still loose from the hormones released during labor and birth. This, I didn't really question, because at birth, her pediatrician noticed that her hips were really flexible. He also attributed this to her body being especially retentive of and sensitive to my hormones because she was a girl.
I did physical therapy to strengthen my knees and had some small issues for a while beyond that but I quickly learned when my knee was going to go out and had the foresight to be able to correct my posture and keep it from completely dislocating.
Over the subsequent decade, I developed some strange issues with my stomach and reproductive system. I was hospitalized several times with stomach pain of undetermined origin. I was tested for gallstones and gallbladder disease, experienced weird thyroid nodules and hormonal acne that left my skin with deep, gouge-like scars. Eventually I was labelled a difficult patient by most of my physicians, and discharged from three practices because I was pushing doctors to keep looking at things, and most times didn't agree with me.
For four years, I stopped going to all doctors except my psychiatrist. I was convinced it was all in my head, and started taking medication that made my mood better but not any of my pain, and actually exacerbated my fatigue during dosage changes.
I started to call out of work a lot. I made mistakes with money. I was living with a boyfriend and our relationship fell apart because I was frequently too tired to do much when I got home from work, and little things like not being able to agree on dinner became situations where I would end up crying because I didn't feel well.
But I looked fine. I was a young, seemingly healthy person that just seemed like they didn't care. I couldn't describe the constant muscle and joint aches. I started not being able to go to the grocery store. I would come home frazzled and without most of the essential things on my list. My boyfriend would ask me to just go back and the thought of going back would send me into a meltdown of epic proportions because the assault of the bright lights, the people, the music, the slick floors, the beeping of the registers; it was too much after working all day and sitting in 45 minutes of traffic. I just wanted to go to bed. I didn't understand why it took so much effort to do what everyone else can just... do.
I developed night sweats that soaked my clothing, sheets, and mattress. I'd wake up soaked, freezing cold, shivering, with my knees and hips in agony and frequently on the verge of vomiting. I started being unable to eat more than a few bites of any food at a time before I either got nauseous or threw up everything I had managed to eat. I lost 50 pounds in eight months. My hair was falling out in clumps and breaking in the middle. I was pale. I was covered in bruises and my skin was dry and dull. I was anxious and felt pretty worthless as my apartment and my relationship went to hell around me. I wanted to help my boyfriend but my energy levels vary so dramatically, I couldn't be sure I'd be reliable when he needed me. One day, I was helping him carry things to the car, and my ankle gave out on me, causing me to fall with expensive things in my hands.
Eventually, he got so sick of the fact that I had deteriorated so quickly, because I still looked so able, that I moved out because I couldn't stand the feeling of failure I felt every day for not being able to do the things that I should have, and the stress on both of us was just too much.
Before I had my daughter, I worked in retail and ran circles around every salesperson on the team. I even worked 4 am - 12 pm at one job and then 2 pm - 10 pm at another for over a year before I got hurt at my morning job and took on the afternoon one full time. I worked 6 days a week, and when I got pregnant, I slowed down but kept 40 hours until the month before I had her.
I didn't understand what happened to me. I still kind of don't. I was young and healthy and here I was in my thirties with my life crumbling, and I still had no answers and no resources to pursue more.
Last year, I found out that my favorite singer Sia has Ehlers-Danlos Syndrome. I had never heard of it before so I googled it, and you probably could have seen the lightbulb above my head from space. I couldn't breathe. I felt like I was reading a word for word description of all the weird things I had always noticed about my body. I had no idea how to approach this with my primary care doctor, who has never really taken me seriously, so I sat on it for months, keeping a daily symptom journal, photographing my bruises and joint hypermobility.
Then, in September of 2019 I was at a labor day party, drinking and having fun and I decided to ride a friend's bike. I hadn't been on a bike in 20 years, but... there's that saying, "it's like riding a bike," like, a skill you don't lose when you master it. I spent my childhood on my bike, I loved riding my bike, so I got on the bike and eventually lost my balance and fell off the damn thing. I cut my knee wide open. When the scar was still papery and purple in January, I went to my dermatologist. He's always been a little obnoxious but he also knows that I'm fairly well versed in medical stuff, so he talks to me like a nurse, not a patient. I showed him my knee and the scarring on my face, and said, "I have an Ehlers-Danlos Syndrome, and I'd like a referral to genetics, please."
He seemed kind of, "ehhhhhhh" until I stood up to leave the visit. He happened to glance at my knees and he said, "Wait. Please come sit down, I think you may be right." and then we talked for another 20 minutes.
I left his office with a referral and he was making a personal phone call to a dermatologist who treats rare skin disorders and those associated with chemotherapy treatment.
That appointment happened in February and my Genetics appointment was on April 3. She did a video call with me and talked to me for two hours. She's AMAZING. She's had me send DNA samples to be tested.
The type of EDS I have (we think) is Hypermobile type with co-occuring Postural orthostatic Tachycardia Syndrome (PoTS) which caused the night sweats, and is why I can't keep my balance when my heart rate is high. What's also fun is that if I stand up too fast, I hit the floor. Or, sometimes, if I stand up and walk into the kitchen, I make it into the kitchen and pass out in there.
So there's the journey - in a giant shell. It's a long post, I know, but this is actually the shortest version I could tell.
So, while I'm on the right track, I'm still dealing with the fatigue. I was having trouble working from home during the pandemic for various reasons and was let go. I am working a part time job and trying to figure out my next step. This week, I've woken up three days in a row with my left middle finger dislocated. Not sure how it happens but I'm now realizing I should invest in braces for my fingers. They often lock up on me and this is likely the first dislocation of many I'm going to experience.
Yesterday, I applied for the EDS Society's patient advocacy training program. I'd like to help others with this diagnosis begin to navigate their journey. It comes with many different types of specialty care that can be expensive and many patients are not well informed about disability benefits they may be eligible for which can lessen the financial impact of having this genetic disease.
And there it is. In medical school, doctors are trained to look for the most simple explanation possible to diagnose symptoms. "When you hear hoofbeats, think horses; not Zebras."
Well. I'm the Zebra.
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