I made an appointment to see the only adult geneticist in the state of Colorado over one year ago. (Read more: here.) It was actually fourteen months ago. The appointment was because I wanted to know for sure if I had something more specific than the joint hypermobility syndrome my rheumatologist diagnosed me with (as a working diagnosis).
So I waited… and my appointment was just on Monday! I’m extremely excited about it, and it was one of the best appointments I’ve ever had.
I requested records from pretty much every doctor I’ve ever seen, so they had over 100 pages of records to go over before my appointment! Apparently, they did actually go over them (at least skimmed them to find records that were related to why I was being evaluated). Honestly, that in itself impressed me right from the start!
Unfortunately, people with chronic illnesses, especially invisible illnesses, are often seen as hypochondriacs or exaggerating when they seek help. Therefore, we pretty much always go into appointments with a slight (sometimes subconscious) feeling of preparing for battle… We have to battle for our rights, our voices to be heard, and the correct tests and treatments. It’s exhausting, honestly, but you start to get used to it.
Of course, I had the warrior feeling going on when I was sitting in the office. I was also terrified that after 14 months, I would be dismissed and told “nothing’s wrong, leave.” Thankfully, I was so very wrong!
One of the genetic counselors came in first, she was the one that had done all of the record perusing. She started with some basics, then said she wanted me to understand things. When she said that she started talking again with a “unfortunately, when people your age start collecting diagnoses like these, your credibility goes down…” oh dear, this doesn’t sound good … But then she continued saying that that was not fair, and that they believed everything I’d said. She said I wasn’t unique to their clinic (they have other patients with very similar files) and that she knows for a fact that everything I’ve been experiencing my entire life is true and my pain is completely valid. She said that even if they were not able to put a diagnosis into my chart at the end of the appointment, they would officially put a note saying that every single symptom I experience is valid and my pain is serious and requires treatment. I was stunned. I almost burst into tears. Having a doctor want to reassure me from the get go, without me even having to open my mouth, was a completely unique experience and I was so caught off guard by how wonderful it was that I almost burst into tears.
What followed was an appointment that was just over two hours long. I talked with the genetic counselor for quite some time and answered tons of questions, then the geneticist came in and we talked a little more and then there was a physical exam. After the physical exam, he said all the stuff the genetic counselor said (about fully believing me) and was equally as genuine and reassuring. It was such an amazing atmosphere!
Then, I did get an actual diagnosis: Generalized Hypermobility Spectrum Disorder (G-HSD)! (Clicking on the name will take you to The Ehlers-Danlos Society webpage about the condition.)
G-HSD is a relatively new term that has come from the reclassification of the EDS criteria. Joint hypermobility is a spectrum, and G-HSD is very similar to hypermobile Ehlers-Danlos; the main difference is the degree of hypermobility. It is a bit more complicated than that, and the criteria and difference are all on The Ehlers-Danlos Society site.
Even though I was already pretty sure that I had G-HSD, because I was paying attention to the criteria changes, having it officially diagnosed is like a weight being lifted off my shoulders. It can be really hard to get doctors to take you seriously unless you have a firm diagnosis. Now, it’ll be a little easier to get the help that I need from doctors… Since it’s an invisible illness, it still won’t be easy, but it’ll be easier than it was.
I also have a firm support doctor. While the genetics clinic is a diagnostic clinic, and doesn’t see patients on a repeat basis (unless testing is done or other things like that), they are very reachable for both patients and doctors. If I encounter doctors that are hesitant to treat me or do not know how, I can refer them to the geneticist and he will help explain the condition to them.
Overall, this was one of the absolute best appointments I’ve ever had!