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Sunday, May 8, 2022

My Life with Ehlers Danlos Syndrome


As I was filling out the paperwork for my disability hearing, I had a hard time answering some of the questions. "How long have you had this issue?" and it wanted me to put in a start date. Except how do I even answer that? I've only known that I had Ehlers Danlos Syndrome less than 2 years, but I've definitely had it my whole life.

Since May is Ehlers Danlos and Hypermobile Spectrum Disorder Awareness Month, I thought I'd talk about Ehlers Danlos Syndrome, and how it affects my life. 

What is EDS?

Ehlers Danlos Syndrome is an inherited connective tissue disorder, and since our bodies have connective tissue nearly everywhere, it affects the body in so many different ways. Named after scientists Edvrd Ehlers and Henri Alexandre Danlos, who first described this in the early 1900s, EDS is actually a collection of disorders that affect connective tissues. There currently are 13 known types (other than an extremely rare variant discovered in 2018 with only four individuals so far diagnosed with it), and of them, all but one can currently be diagnosed via genetic testing. The last one, Hypermobile Ehlers Danlos Syndrome, the one I have, they haven't yet discovered the gene or genes responsible, so it is diagnosed via clinical observations. 

The types of EDS are:
  • Classical EDS
  • Classical-like EDS
  • Vascular EDS
  • Kyphoscoliosis EDS
  • Arthrochalasia EDS
  • Dermatosparaxis EDS
  • Brittle-cornea syndrome
  • Spondylodysplastic EDS
  • Musculocontractural EDS
  • Myopathic EDS
  • Periodontal EDS
  • Hypermobile EDS
I will admit that I am, by far, not nearly as familiar with the non hypermobile (hEDS) types of Ehlers Danlos Syndrome, so that is what I will be talking about most. There is a possibility that I have Classic or Classic Like EDS but I have not done genetic testing to rule those out, but I do fit the diagnostic criteria for hypermobile EDS.

The overarching criteria for basically all EDS is loose joints, joint pain, stretchy velvety skin, and abnormal scar formaation. Within the different subtypes there are also additional symptoms found in those specifically.

From when I was young I had a host of different medical and pain issues that I had absolutely no idea were related until the past two years or so.

I regularly sprained my ankles. Clumsiness. Dislocations and subluxations. Clicky joints. Stomach issues. Nerve issues. And so on, and so forth. I will go through the diagnostic criteria for hypermobile EDS and explain how it applies to me, and then talk about comorbidities.

Diagnostic Criteria for Hypermobile EDS

Since hEDS currently can't be diagnosed via genetic testing, the way to diagnose it is via a diagnostic checklist for the criteria. This is called Brighton Criteria. With this list, any doctor can diagnose someone with hEDS. There is part 1 and part 2 with, part 1 being the Beighton score which is just meant to confuse you, because the only difference is an E or R... But oh well, that's the reality. Mr Beighton and Mr Brighton must have had a confusing time at work. (I actually have no idea the source of those names, to be honest. I was just being silly.) I am essentially writing down everything on the checklist above but writing it in normal not science speak so you don't need to find an interpreter.

You need also part 1 and part 2 and part 3 to get a diagnosis for hEDS.

Part 1: Generalized Joint Hypermobility

Beighton Score: You get one point for each of the following: (Right and left are 2 points.)
  • Pinky can be pulled up more than 90 degrees when your hand is flat down. Right and left.
  • Thumb can be pulled down to touch the wrist, as shown in my photo above. Right and left.
  • Elbow hyperextending at least 10 degrees. Right and left.
  • Knees hyperextending at least 10 degrees. Right and left.
  • Hands flat on floor with knees straight.
Pre- puberty 6 or more points needed.
Post puberty men and women between puberty and aged 50- 5 or more points needed.
Women 50 and over- 4 or more points needed.

If you are one point below the cutoff, you have to have 2 or more of the following to meet criteria:
  • Can you now or could you ever place your hands flat on the floor without bending your knees?
  • Can you now or could you ever bend your thumb to touch your forearm?
  • As a child did you amuse your friends by contorting your body into strange shapes or could you do splits?
  • As a child or teenager did your shoulders or kneecaps dislocate on more than one occasion?
  • Do you consider yourself double jointed?
Part 2: Two or more of the following, A, B, or C must be present

Feature A (five must be present)
  • Unusually soft or velvety skin
  • Mildly stretchy skin
  • Unexplained stretch marks on the back, groins, thighs, breasts and/or abdomen in adolescents, men or pre-pubertal women without a history of significant gain or loss of body fat or weight
  • Multiple raised fat filled bumps (papules) on both sides of the heels. 
  • Recurrent or multiple abdominal hernia(s)
  • Atrophic (indented) scarring involving at least two sites and without having truly papyraceous (paper like) and/or hemosideric (darkened) scars as you find in classical EDS
  • Pelvic floor, rectal, and/or uterine prolapse in children, men or childless women without a history of morbid obesity or other known predisposing medical condition
  • Dental crowding and high or narrow palate
  • Arachnodactyly- extra long and thin fingers, showing a positive wrist sign, meaning that you can touch your thumb and pinky when encircling your wrist (called a Walker sign) or a positive thumb sign- when your thumb sticks out past your pinky when clenched in a fast (called a Steinberg sign). This needs to be on both hands
  • Your armspan is longer than your height, so that when you divide your armspan by your height you get a number equalling or greater to 
  • Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria
  • Aortic root dilatation with Z-score >+2
Feature B
  • One or more first-degree relatives meeting the current criteria for hEDS
Feature C (must have at least one)
  • Musculoskeletal pain in two or more limbs, recurring daily for at least 3 months
  • Chronic, widespread pain for 3 months or more
  • Recurrent joint dislocations or clear joint instability, in the absence of trauma

Part 3 - Ruling out other possible diagnoses. All of these must be met.

1. No unusual skin fragility- this would require testing to rule out other types of EDS

2. No other heritable and acquired connective tissue disorders, including autoimmune rheumatologic conditions. In patients with an acquired connective tissue disorder (e.g. Lupus, Rheumatoid Arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Part 2. Feature C of Part 2 (chronic pain and/or instability) cannot be counted toward a diagnosis of hEDS in this situation.

3. No other alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to, neuromuscular disorders (e.g. Bethlem myopathy), other hereditary disorders of the connective tissue (e.g. other types of EDS, Loeys-Dietz syndrome, Marfan syndrome), and skeletal dysplasias (e.g. osteogenesis imperfecta)

Which hEDS Diagnostic Criteria Do I Have?

Part 1- I have hypermobility in my thumbs, elbows, and knees. That is six points when I need five. I could also do the bending over thing when I was younger.

Part 2- Feature A:
  • Soft velvety skin
  • Stretchy skin
  • Stretch marks (will elaborate later)
  • Abdominal hernia (more below)
  • Indented scarring
  • Dental crowding/high arched palate (more below)
  • Long and thin fingers. No Walker sign because my wrist bones are huge, even though my fingers are really long and thin. But yes Steinberg sign.
  • My armspan is longer than my height. Not quite sure if exactly the ratio needed, but since this is the eighth feature I have and you only need 5, it doesn't matter exactly.
Feature B is a no.
Feature C I have them all and you only need one. 
  • Daily musculoskeletal pain in multiple limbs for years now
  • Chronic widespread pain for years already
  • Multiple subluxations, and extremely unstable joints
Since you only need 2 features, I got this one.

Part 3- 
  • No extra fragile skin
  • No other connective tissue disorder
  • Marfan's syndrome was a possibility, so I had an echocardiogram to rule that out.
None of these, so it's a go.

With that, I got my diagnosis. The first person to actually give me the diagnosis was a general internist who simply went over the diagnostic criteria with me and checked all these things and saw that I clearly fit the diagnostic criteria and diagnosed me. But since it was a private doctor I needed someone through my HMO to get it officially put into my medical file. Then I went with my son to urgent care through my HMO when he had a suspected break and when the orthopedist finished checking my son I asked him if he could give me an official diagnosis in my charts and he did so. Then I made an appointment with another orthopedist who did a very thorough exam in general and also wrote me another diagnosis as well as referring me to a spine specialist for further testing.

How Did I Figure Out I Had EDS?

You would think that, with all my health issues someone would have picked up about my EDS, but every single doctor was just looking at one symptom at a time instead of trying to figure out the underlying cause. I actually wish I had a doctor that was good enough and thorough enough to investigate and figure out what the potential issues were, but instead it was my crowdsourcing on Facebook. 

But first, it was my friend Cara Olivia that even made me aware of EDS in the first place, as she was sure she had it but was looking for someone to officially diagnose her, but since the expert in my region on EDS is impossible to even get on her waiting list, which is years long. She deals with intense chronic pain in her entire body, more intense than mine, and she was having so many subluxations that she needed mobility aids and started using a cane and a wheelchair to be able to function. She taught me about EDS and the diagnostic criteria, as she showed me which of the criteria she met, and I realized that it applied to me, even though I had fewer subluxations than she did and at the time (a few years ago) was in less pain. 

But since I knew how impossible it was to go to the EDS expert, I more or less put it aside. But then over the last few years my symptoms got worse (since EDS is a degenerative thing) and as I posted about my issues on Facebook venting, more and more people told me that I should get checked out for EDS. And then I found out that to even get onto the EDS specialist's waiting list, I first needed an official EDS diagnosis. 

I tried going to a rheumatologist, since they're the types of doctors that typically diagnose hEDS along with geneticists, but the rheumatologist I went to clearly was not familiar with EDS, since he tried to see if my thumb touched my wrist backwards, not forwards, and since that didn't he was like oh I don't know, you should go to a geneticist, but he never actually wrote me the referral to a geneticist so I didn't do that.

Then it was my going to the orthopedists, as mentioned above, to get my official diagnoses. And from then on, it's my deciding what types of doctors to go to, what to ask for referrals to, and then chasing those things down. But having EDS officially listed in my chart helps with all my other appointments, and the doctors actually now factor in my EDS to the issues that come up and my other symptoms.

Things That Now Make Sense Once Diagnosed

Once I got my EDS diagnosis, I felt everything start falling into place. Also with my current issues and with my childhood. It's like I had so many puzzle peices, not realizing that they fit together to make a larger picture, let alone what that picture was. But looking through the lens of EDS, things make so much more sense now.

I couldn't decide if I should go in chronicological order or not, so bear with me as I jump around a lot.

My most significant health issue and pain issue is my pelvis. My sacroilliac joint, something that should be one of the more stable joints in the body, has basically no stability whatsoever. I found this out when I was pregnant with my third child. When you're pregnant your body makes the hormone relaxin, which is intended to make it easier to give birth, but when someone has unstable joints, as EDS causes, this relaxin wreaks havoc on the body.

When I was pregnant my pelvis would regularly sublux, I'd either get an upslip or it would be a rotational sublux, which made me be in excruciating pain, unable to walk or do most things without pain. And even the smallest things would cause it to sublux, but I learned that doing anything that involved rotating my torso with any weight whatsoever would cause problems, which meant mopping was a no no, as was picking up something from on my side when I was sitting down, or carrying a kid on my hip. Pushing something with my foot was the absolute worst thing I could do. I learned the hard way that I had to be strict about not doing these things, but even things like rolling over in bed could cause my pelvis to sublux. And it isn't possible to put a subluxed pelvis back into place on your own. At that time, I still had a relationship with my mother, and she'd come by to put my pelvis back into place when needed (or "put me back together" as I referred to it). Fortunately, soon after giving birth my pelvis stabilized, and it didn't cause me problems again until I was pregnant the next time.

Then about 3.5 years ago everything started getting worse. I was working in cleaning and my pelvis started causing problems for me, first a little bit at a time, even though I was no longer pregnant. It got worse and worse until I it was so far subluxed that I couldn't function, and I no longer was in contact with my mother, so needed to find a new physical therapist to "put me back together" as my mom used to. I found a physical therapist who specializes in pelvic floors hoping that she'd know how to deal with my pelvis, and, though it isn't what a pelvic floor PT usually specializes in, it's all connected and uses similar muscles so.... and turns out she knows a lot more than just pelvises, and has quite a few EDS patients, and is quite adept at treating EDS people and our subluxations.

Once I realized I had EDS, my wobbly pelvis made so much sense. That is why a generally stable joint for me can come out of place with just the slightest thing (I lightly kicked a ladder while swimming and it came out, I sit down on a non flat surface on a seat and it comes out, I even roll over in bed and it could come out), because joints are built out of connective tissue and mine doesn't work. My joints that should be held in place by callogen simply aren't; the only thing that can hold them in place are muscles, and if my muscles aren't super strong, it isn't enough to hold them in place.

My constantly spraining ankles as a kid then made so much sense. I sprained my ankle for the first time when I was either 3 or 4. I sprained my ankles probably 3 or 4 times a year. I always had ace bandages and crutches at home since they had regular use, and sometimes also air casts. I was always told off by my mother that my ankle muscles were too weak and that's why I kept on spraining it, and that it was my fault for not doing enough ankle strengthening exercises. No mom, it was because of EDS. And also, because every time you sprain something, you weaken a joint and make it more likely to sprain in the future. Now, not only does my ankle get sprained super easily, I can be walking and then all of a sudden my ankle bends to the side and I fall flat on my face. And my balance is really terrible, also because of my wonky joints. And I have under pronation, my gait is affected because my ankles don't stay above my heels but go out to the side, which affects my shoes- I wear away at the outside faster, which then causes my over pronation to get worse- which then causes me pain.
Since I was a kid I also regularly sprain other things as well- I sprain my wrist, elbow, shoulder, knees, and fingers regularly enough that I have splints for all of those. As a kid I even managed to sprain my collarbone, which supposedly is a rare injury, but hey, EDS gets lots of those.

My knees always hurt as a kid, and have started hurting again recently (and especially this last week). It makes sense- my physical therapist checked me the other day and said that my knees have absolutely zero joint stability. EDS for the win.

When I was in kindergarten, I had a double inguinal hernia surgery, and guess what- that is also an EDS symptom! Who knew? I didn't until I read the EDS diagnostic criteria. And my mom had the same when she was younger. (I'm pretty sure she also has EDS or similar, since her pelvis also does the same as mine.)

When I was 9 I had a palate expander. It was considered something that was 100% medically necessaary since I had such a narrow and high arched palate that there was not enough room for my teeth in my mouth and my roots were all overlapping each other. The same thing happened with my father's cousin (and my older sister had the same issue) and because of this issue he lost all his teeth by the age of 30. So I had an expander, then braces, then an expander again. Another piece of the puzzle- high arched palate is a diagnostic criteria for hEDS!

I remember one day when I was a teenger, 12 or 13 maybe, and I went for a long walk to a friend's house, and when I got there my stomach was really itchy, and I lifted my shirt to look at it and it looked like the skin on my stomach was ripped- I had angry red stretch marks all over it. I went from nothing to entirely covered over the course of the walk from what I can tell. It was really scary, I thought I was bleeding, but it was just from the stretch marks. I also got a ridiculous amount of stretch marks when pregnant; my entire belly was covered in marks. Stretch marks can happen to anyone, but the intensity, especially like what happened when I was a teenager? That's an hEDS diagnostic criteria.

When I was a kid I always "sat wrong", I did what is called W sitting, with my knees in front of me and my ankles splayed out to the side behind me. Very common with kids but especially EDS. My ankles always flopped inward, to the extent that it looked like I had another ankle bump on my foot because of where my bones jutted outwards from sitting that way. EDS hypermobility right there. And I've always been clumsy, and that is an EDS thing too.

When I was in about eighth grade one time my skin started feeling like it was burning. It started in a small patch on my shoulder but grew and grew. Anything touching it hurt so much, felt like it was touching sunburned skin. My parents assumed it had to do with a mole that was in the area, so it was removed, but it still continued afterward. I went to a neurologist who gave me ganapentin to help and eventually it stopped hurting.

When I was in tenth grade, I tripped and fell onto my wrist, and completely dislocated my hamate bone (hello EDS and weird dislocations) and in addition to the sprains I got, I ended up with seriously bad nerve pain, which was like my previous pain, feeling like I was burnt. This time it was up my entire arm and was much more severe than when my shoulder hurt, and it only stopped after lots and lots of occupational therapy and specifically sand machine therapy (apparently called fluidotherapy as I just discovered) meant to desensitize my skin. I was told I was starting to get complex regional pain syndrome, and while we stalled it, if I get injured again in the same area, it could come back permanently.

From time to time I'd get this nerve pain starting again. Always on my skin. Always feeling like its burning. But each time I'd go to a neurologist (waiting times were months) the pain would be gone. It wasn't consistent. Sometimes it would be for days and sometimes just a few hours, sometimes more mild and sometimes excruciating. Usually it was on my arms but not always. EMGs didn't show anything either.

And then my physical therapist figured it out. It is also EDS related! I didn't know but my spine also is very unstable in my body. My vertebrae move around, with some further apart and consequently others "stuck" together. When I go to my physical therapist she regularly loosens these "stuck" parts of my spine because they cause pain in my back, sometimes excruciating to the extent that I literally scream in pain. And this is connected to my nerve issues because... when my vertebrae are "stuck" they press on the nerves coming out of the spinal column there, and that is what causes my intense nerve pain. Loosening up my spine causes the nerve pain to disappear. Mind blown! 

I've talked about it before, but I have had constant stomach aches my whole life, and was diagnosed with IBS. (That is why I have eliminated specific foods from my diet.) Stomach issues also are often caused by EDS. The digestive system is filled with connective tissue, which is required for the movement in the digestive system, and abnormal connective tissue affects that. Connective tissue is also found in the nerves around the digestive tract, which also are affected. People with hEDS are likely to have digestive tract issues ranging from upper to lower, and the list of them is too long to write out, but the ones on the list that I deal with are heartburn, bloating, diarrhea and constipation. I never would have connected this to my ankle sprains!

I've had TMJ issues and always thought it was just run of the mill "TMJ pain" but it actually was my temperamandibular joint subluxing, and after a really painful bout of issues chewing I mentioned something to my physical therapist by chance, she suggested a possible subluxation, confirmed it, and put it back into place and voila, my pain was gone.

I've been having bladder issues, and while we haven't found the cause, there is a strong possibility it is connected to my EDS since those are often comorbid.

And lastly, I've been having a lot of random weird issues, and they all fall under the autonomic nervous system and possible autonomic dysfunction, and while I will be checking that out with doctors, autonomic dysfunction is often a part of EDS.

Since this is genetic- 3 of my kids are definitely hypermobile. One of my kids might fit the criteria for EDS already now, but we'll have to see what happens with the rest of my kids. And knowing about the likelihood of them having EDS, we can try to help them prevent things that would cause degredation of their joints and help them build muscle to stabilize their joints already from a young age, because if their joints won't hold their bones in place, then at least their muscles will.

Zebras are the symbol of EDS, because of the phrase "When you hear hoofbeats, think horses, not zebras", as doctors are told to first look for the more common diagnoses before jumping to the rarer possibilities. Only sometimes it is a zebra. Which is why the rare EDS is likened to a zebra. But, to be honest, EDS, especially hEDS, is likely much more common than previously thought, since there are so many people like myself who only get diagnosed much later, and probably even more people who are never diagnosed...

A Cure...

Hahahaha. That was a gotcha. There isn't a cure. It's genetic. There isn't a treatment for it all, its a body wide issue. All you really can do is treat the different issues on their own, even if you know they are connected and from the same source. Mobility aids can be really helpful for some people. Braces to stop further dislocations are right for some people. Some need surgery. The spinal surgeon though said there's no surgery they can to do help me. Building muscle in safe ways that won't cause injury and will strengthen the muscles which then stabilize the joints, and minimizing injuries as much as possible so as to not cause further degredation of the joints is imperative. 

For me, the biggest help though is my physical therapist, because she is able to fix most of the debilitating issues. And what she can't help with? That's where my pain meds and medical marijuana license comes in. Oh well.

This post is really, really long, and I hope I didn't bore you too much. I hope I taught you a lot, and, hopefully, if any of you are suffering from a similar range of "unconnected" things, you might also realize it is EDS and figure out how to get the correct treatment.

To learn more, with sources, check out the Ehlers Danlos Society's website. It's a goldmine of information.

While I am still learning more about EDS, I am happy to try to answer any questions you might have about EDS. So what questions do you have? Also, do you have or know anyone with EDS? Based on the diagnostic criteria do you think you might be a zebra? I'm very curious.

2 comments:

  1. This was so interesting to read Penny. I am sorry you are going thru so much pain, and for so long you didn't even know what was happening to your body.I wanna read this again and try to understand more.

    ReplyDelete
  2. Absolutely fascinating. I am so sorry you have to go through this, along with your other challenges.
    My mom had a high arched palate, but while she had many of the symptoms (and like you was told she was doing whatever wrong so it was her fault) she was never diagnosed with anything besides anxiety. That apparently caused her knees to slip out of joint. Amazing.
    She had problems getting pregnant and giving birth too, and now I'm wondering whether that's tied in.

    ReplyDelete

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