How I got my hypermobility diagnosis, Part 1: Seeing a geneticist

Hey everyone,

Many of you have been asking recently about how I was diagnosed with hypermobility.

The way our healthcare system works here in the US, a geneticist is the only type of specialist who can officially diagnose a hypermobility disorder.  

I actually had an unofficial diagnosis in 2019, because I ended up at a physical therapy place where they specialize in hypermobility.  My physical therapist, Kathleen, was able to take one look at my joints and explain a lot of the pain I’d had throughout my whole life, which no one could ever explain before. 

Based on my conversations with Kathleen, I knew she had to be right.  You know when you’re talking with a person and you just know they know what they’re talking about?  It was that feeling.  

However, Kathleen strongly urged me to see a geneticist for a more official diagnosis and I followed her advice.

Why see a geneticist?

Now, you may be wondering why I felt the need to see another medical professional, if I was already having so much luck in physical therapy.

The reason is that hypermobility spectrum disorders, also known as connective tissue disorders, can actually affect a wide range of body systems.

After all, we don’t just have connective tissue in our joints– we have it in many other places too, such as within our internal organs.

So, the reason they call it hypermobility spectrum disorders is that these disorders can really lie on a spectrum, in terms of how severe they are, and range of symptoms they can cause.

I honestly try to keep it somewhat light on this blog, because I know so many of you are already dealing with really difficult things. 

However, the reality is that if your body is not producing connective tissue properly, it can cause some pretty debilitating consequences. It can also put you at increased risk for some serious complications.   

I wanted to know more about precisely what I was dealing with, and what future health risks I should be aware of.  

I did some research, both on my own, and also through connecting with local patient support groups.  

As I always tell you guys, in my opinion, nothing really beats word of mouth and getting recommendations from other patients.  

I felt that the genetics program at Brigham and Women’s made the most sense for me.

For those of you in the area, I had already switched into the Mass General Brigham system because I really felt they were the best option, by far, for another condition which I’m dealing with (mast cell activation syndrome).

I also liked that Brigham and Women’s had a special format for hypermobility evaluations, which I did not see anywhere else.

So, last spring, I had my virtual visit with Dr. Rohanizadegan, along with a genetics counselor.

Based on my experience, an initial genetics evaluation involves three components:

• A physical exam
• A personal history, to see if you’ve had any of the symptoms or complications that can arise from hypermobility
• A family history, to see if anyone in your family has had any of these same symptoms or complications

In my next post, I’ll be talking about my visit in more detail, and how it helped to provide me with some clarity moving forward.

To learn more about hypermobility conditions, check out:

• My hypermobility page

• The Ehlers-Danlos Society — Ehlers-Danlos Syndrome is one specific form of hypermobility disorder, however they have an amazing set of resources for people dealing with all forms of these disorders.

• Hypermobility Syndromes Association

Stay tuned for more!