My official hypermobility diagnosis

Hey everyone,

So in my last post, I talked about why I decided it was important to see a geneticist to get a more pinpointed hypermobility diagnosis.

I had a virtual visit with Dr. Rohanizadegan, along with a genetics counselor who helped to do my intake.

Normally, of course, genetics visits are done in person, as the in-person exam can be a really important part of the diagnosis. However, for this visit, we just did as much as we could virtually, and then I was told we’d end up scheduling an in-person visit afterwards, if the doctor felt it was needed.

Three components of the initial exam:

Physical exam: For this, Dr. Rohanizadegan asked me about some of the symptoms that can come with hypermobility. For example, she asked me if I felt I had particularly thin or silky skin, which can be a characteristic of some hypermobility conditions such as Ehlers-Danlos Syndrome. It’s never seemed to be a symptom for me, however.

She also had me go through some of the maneuvers of the Beighton test, which is essentially the classic test for hypermobility. (It is normally not done over a Zoom call!).

In this test, the doctor checks certain joints to see if they have a larger range of motion than normal. For example, they ask if you can bend your thumb all the way towards your forearm. They check to see how far you can extend your elbow. And they check to see if, when you straighten your legs, your knee actually has too much flexibility and essentially moves backwards (called “hyperextension”).

The strange thing about me is that, on this test alone, my score was not that high. They measure it out of 9 joints total, and the higher your score, the more likely you are to be hypermobile.

My score that day was only a 3. However, I explained that I’d had other doctors do the test on me before and say my score was higher.

This leads me to my personal belief that the Beighton test is flawed.

I’ve been learning that there a few ways in which this test might not be the most accurate. For example, multiple medical practitioners have told me it’s possible that even though I’m still in my 30’s, some of my joints could be a little bit stiffer now than they were, when someone first performed the test on me at age 19. However, there’s another explanation for why I don’t necessarily appear super flexible, which I personally think is more likely:

When your body senses your joints are moving too outside of their normal range of motion, it actually tightens up your muscles as a way to protect them.

I remember, even as a varsity long-distance runner winning medals, noticing my muscles always seemed to be more tight than other people. I honestly never considered myself to be a flexible person, which is pretty much the huge irony. I always felt less flexible than everyone else, which now I believe is how my body compensated for my connective tissue disorder.

I also believe the test is flawed because I’ve had multiple practitioners who work with hypermobility on a daily basis tell me my joints are clearly hypermobile.

For example, check out my hands. This picture shows you how far I can hyperextend my fingers… I was age 34 when someone first told me this was abnormal.

See how, when I straighten my thumb, it essentially points upwards?

The second picture shows you what she told me was technically “normal” (but did not feel normal when I tried to take this photo!).

Apparently you’re not supposed to be able to bend your fingers backward past this range…?

Factoring in what I told her about my personal history, Dr. Rohanizadegan bumped my score up to a “historical” 4-5.

Other parts of the exam:

Personal History: For this part they are checking to see if you can have some of the other signs and symptoms of a connective tissue disorder, which, again, can affect many other parts of the body in addition to the joints.

I frankly do have a lot of issues which I hadn’t previously considered part of a connective tissue disorder. Essentially, I have had quite a few injuries, including my very first running injury ever, in which my hip flexor tendon partially came unattached from my hip bone during a race.

I had always thought this was so bizarre, and seemed to come on with very little warning.

Dr. R. was able to confirm that this likely was a result of my connective tissue disorder, and would not necessarily have happened to anyone else.

Family History: Again, I try not to get too serious on this blog, because I know many people are already having a hard time. However, I do want to emphasize that connective tissue disorders can have very serious ramifications, as they do have the ability to affect organs such as the heart and brain.

I’ve certainly had people in my family go through serious medical events (such as heart attack, stroke, etc). Although, just reading between the lines, it might not have been the most dramatic family medical history as others may have had.

What was Dr. R.’s conclusion?

Dr. R. could definitely see there was something wrong with my joints, and that I did have a history of strange injuries (not to mention flat feet, which are also a sign of hypermobility, as feet become flat when the ligaments that are supposed to create an arch stretch out and allow them to flatten).

However, I didn’t clearly fit into one specific category for a diagnosis.

Essentially, Dr. R. explained to me that there is still so much we don’t know about connective tissue disorders.

There are some types of these disorders, such as Marfan’s syndrome and Ehlers-Danlos Syndrome, which have been more clearly identified. In these conditions, the genes that cause them have been clearly identified, and researchers know more about how the connective tissue is affected.

For example, it’s been established that Ehlers-Danlos Syndrome is known to specifically affect collagen, which is one specific type of protein that makes up connective tissue.

However, there are actually many different types of proteins that make up connective tissue.

Some people, like me, are likely to have a defect in how our bodies make one of these other types of protein, which science hasn’t identified yet.

So much more research is needed, as there is still really a spectrum of different proteins that can be affected, and different symptoms that can cause.

Because I fit into one of the categories that science has not yet managed to better define, Dr. R. gave me the diagnosis of “connective tissue disorder, otherwise unspecified.”

In my case, Dr. R. didn’t order any genetic testing, because the genes haven’t been identified yet for the condition that I have. (However, testing is available for some of the types that have been better defined).

She did order an echocardiogram just to make sure my heart is okay (sometimes CTD’s can cause heart issues, as your heart valves and blood vessels are also made up of connective tissue). Thankfully, there was nothing concerning found on mine.

Moving forward

The interesting thing about this whole scenario is that, unlike with most medical conditions, the specialist who diagnoses you is not the same person who then manages your treatment.

Once you have a hypermobility diagnosis, it then comes back to symptom management, and finding the right specialists in other areas who can help you.

So right now, I am doing okay overall– I’m thankful that I don’t seem to need help from additional specialists at this time.

And I have been so grateful to finally start finding people to help me, from a musculosketal perspective, who truly understand what’s going on.

Thank you for reading my journey!

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