Ehler-Danlos Syndrome: the lived experience

“Joint hypermobility Syndrome (JHS) and Ehlers-Danlos Syndrome are heritable disorders of connective tissue…affects the skin, blood vessels and ligaments…symptoms include joint instability, increased range of motion, easy bruising, and joint pain…increased incidences of fibromyalgia , dysautonomia, and urinate and gastrointestinal problems.”

Some people are just very flexible. Like very flexible. Think of the kids that would do crazy party tricks. Those that can fold themselves up into crazy shapes and call themselves “double jointed”. This flexibility, as cool as it may seem to do party tricks, may actually be an inherited problem called Ehlers Danlos Syndrome or joint hyper mobility syndrome.

The problem with the “party trick” gene is that it also comes with its own set of problems like dislocations, heart rate issues, pain, and sometimes comes with both bowel and bladder issues.

“…those with JHS suffered significantly greater psychological distress compared to those without the condition, namely anxiety, depression, and panic disorders…A lack of professional awareness of the syndromes can cause considerable delay in diagnosis, and the otherwise normal outward appearance of patients can lead healthcare professionals to question the legitimacy of their pain and symptoms.”

I didn’t understand this at first. That’s just my ignorant response having never experienced working closely with patients that have EDS. Now that I’ve treated more than a dozen patients with this diagnosis, I understand the anxiety. Patients worry about subluxations. For those that don’t know this term, it means a joint pops out and then pops itself back in with little effort. It is still darn painful.

A long time ago, I used to be strong. A former strongman and power lifter, I had respectable enough numbers to be able to qualify for the national stage. As a lifter, I wanted to learn how to snatch and clean and jerk. I got decent at the movements and during a 215 lb snatch, I dislocated my shoulder. I made an error in judgement and tried to save an “unsavable” lift. My shoulder popped out and it was darn painful. Within a minute I was able to reduce it, but that left me questioning my abilities, left me with pain for months, left me much weaker than I had been and really impacted my confidence with lifting…Patients that have EDS have frequent dislocations. Some of the patients that I’ve treated have weekly dislocations and I’ve had to draw on my own experience to better be able to treat this population.

Also, so many clinicians don’t know anything about this disorder. Even physical therapists, many have “heard of it”, but that’s about the extent. Understanding the repercussions of the disorder, nope. I routinely see patients with low back pain and if I have a patient that can palm the floor with flexion, I’ll check the Beighton Scale to at least screen for hyper mobility. I’ve had 2 patients that were later diagnosed with EDS-JHS after being referred back to the physician and geneticist.

“…five major overarching themes: lack of professional understanding; social stigma; restricted life; trying to “keep up”; and gaining control”

On a side note, I’ve seen an Oxford comma, but never an Oxford semicolon. I actually had to look up the rules for using a semicolon and this sentence didn’t really fit the rules. I did learn that I should be using the semicolon more often in my writings.

The patients that I work with express frustration about finding medical professionals that understand the disorder.

One patient had to go to the Emergency Room for treatment and when the physician got to the acronym POTS in the list of problems, he asked the patient what it meant. The patient told the physician to at least go look it up before attempting to provide any treatment for the recent bout of near syncope (fainting). As a clinician, I can understand the difficulty of keeping up with different syndromes, but as a professional I know it’s my duty to do my due diligence prior to attempting to treat a patient complaint.

Patients were told their problems were “growing pains…all in your head…there must be something wrong in your mind…”

Imagine knowing that you have a problem, but the medical professional is so arrogant to say you must be creating this. Some of these patients were labeled as having Münchausen syndrome. Just because we can’t define a problem, doesn’t mean that the patient’s problem doesn’t exist. It simply means that we are ignorant of the problem or not enough funds or attention have been paid to the problem in the medical literature to influence population health.

As medical professionals, we have to get better at saying: “I don’t know, but I will look more into it. If I don’t have the answer by the next visit, I will refer you to someone that specializes in this problem”

We have to be more humble. I understand the want to be able to give the patient an answer, but but sometimes we don’t have the answer.

We can’t be all things to all people and we have to be okay with that. There’s a balance that has to take place among the following: in clinic work responsibilities (which as professionals extend beyond clinic hours many days per week), life outside of the clinic, and keeping up to date with the research.

This is the life we signed up for and if the medical professional can’t keep up with all three, that’s fine. Be self-aware enough to know this and establish priorities.

In saying this, don’t be so arrogant to tell the patient that the problem is all in their head or growing pain because we don’t have a better answer. If we are defaulting to this, we have to also say something along the lines of “I tested you for everything that I know how to test and you are negative for everything that I know”. At least be humble enough to tell the patient that it’s our knowledge that may be the limiting factor in figuring out their problems.

“Patients described physiotherapy with inexperienced practitioners as ‘useless, ‘diabolical’…No help whatsoever’, many felt that their physiotherapists had ‘given up’ and reported that exercises had worsened their pain or led to further injuries”

There’s a pendulum in our profession. The pendulum always exists. It’s differing viewpoints.

On pain: the viewpoints historically have been bio mechanical and psychosocial. They tend to meet somewhere in the middle.

On treatment: the viewpoints seem to be manual therapy vs exercise. Again things tend to meet in the middle.

The reason I bring this up is that a recent discussion focused on PT as simply a way to provide linear progression to our patients. Unfortunately, not all patients will be able to progress like this. Using a straight linear progression approach may actually do harm to these patients. I had the honor of meeting one of the GOATs of powerlifting, Eddy Coan, and I asked him what his secret to success was. His answer shocked me:

“I avoided injury”

After listening to him talk about this, it made great sense. Although he wasn’t looking to make huge progressions year to year, he never had a regression.

This is something that has stuck with me and I literally just had this conversation with a patient last night. The patient called me and was disheartened because she had to miss an appointment. We discussed the macro picture of how she has made progress and that even though the progress is slow, missing one session in 6 weeks will not cause her significant issues in her big picture goal.

So often we miss the big picture. Having lifted with high level athletes in my past, I’ve seen lifters go a year before setting a new personal best lift (PR). These lifters didn’t get frustrated because they understood the game and that progress is going to be slow at times, but will come eventually. These athletes understood that stressing the body will create change, as long as the stress is not added so rapidly to create injury.

We have to keep that mindset when working with patients. We can’t expect linear progressions week to week or worse yet, session to session. We have to honor the body’s ability to adapt and understand that tissue remodeling can take a long time in order to make progress.

“Studies have indicated a lack of training in JHS/EDS for primary care doctors and other healthcare professionals such as physiotherapists.”

I don’t have anything to add to this other than…

YOU KNOW WHO YOU ARE!

If you lack the training, go get it. Sometimes it means sitting down on a Saturday or your off day and just diving deep into the research papers because there is no one teaching us this stuff.

The link to the article can be found HERE

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