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!
5 thoughts on “Long Awaited Genetics Appointment Results!”
Hi there, I just saw your blog and wanted to say that I really understand where you’re coming from. Both me and my two kids (ages 9 and 11) were just all diagnosed with G-HSD in the last five months, all by different providers, but each one really listened and believed us. (I am very close to hEDS and just need two more little things to meet the new criteria and was told I could very well have it and that I’m just not showing all the symptoms yet). And looking back over the year of my kids telling me their joints hurt, I’m glad I listened to them and took them to specialists and didn’t ignore them, because their pain was real. And we have learned so much about our bodies and what we now need to do to protect our joints (especially theirs since they are so young still) and take care of ourselves the best we can.
I was going to ask you, have you found anything that helps the joint pain? The only thing that has somewhat helped us are to wear braces when in pain, and then to use heat, but my kids have said heat only helps when the heat packs are on their joints, then their joints hurt when they take the heat packs off. Just wondering if you had any other ideas. 🙂
On behalf of your children, thank you so much for listening to them and taking their concerns and pain seriously! It’s so hard not being believed.
As far as joint pain, those are my main coping mechanisms. I take a magnesium supplement regularly, which dose help chronic pain. However, the magnesium supplement primarily helps with my fibromyalgia, as it’s more of a nerve supplement. I have found that magnesium oil spray (pure) can help when I spray it directly on my joint and rub it in – beware, it stings if you have a magnesium deficiency (but the sting subsides in a few minutes). You can get looser braces and wrap the joint loosely, it will help hold the body heat on the joint without it being so hot it has bad effects. Just make sure you do let the skin breathe. Physical therapy has been instrumental in my care as well – I do Pilates based physical therapy and Pilates every single week. Strengthening the muscles around my joints has reduced my range of motion, which has reduced my overall joint pain. Of course, sometimes I still pop out for no reason, but it used to be a lot worse!
Those are my main coping mechanisms. It’s hard for me to separate my hypermobility pain from my fibromyalgia from my sensory overload due to autism, so I’m sorry I couldn’t be more specific about it!
I’m so happy for you that this appointment went so well. I understand everything you just said, here. I have a Neurologist that was assigned to me, last October, when I fainted and was hospitalized for a week. He promised me that he would figure me out to the best of his ability. He wasn’t going to give up on me, even if all the tests he ordered while I was hospitalized, came back negative. I continue to see him to this day. He diagnosed me with Dysautonomia, which makes so much sense……why none of these other doctor’s I’d been to over the years were unable to figure this one out, is beyond me. Next we’re going to concentrate on the “exact autoimmune disease,” I have that’s causing everything. He always spends, no less than one hour talking with me at each appointment. He reassures me that I am not crazy and there are so many things going on inside this very sick body, or not going on, that should be going on. He said, “a doctor has to listen to every single detail.” What doctor has time to do that when all they focus on is their own specialty??? I’m so happy and feel so blessed to have finally found my “Dr. House.” Unfortunately, at my last visit, he informed me that the practice is forcing him to leave because of his age. He’s 72! He’s with it. Believe me, I know. I’ve spent many, many hours with this doctor. He said he’s looking for another place of employment. I said, “wherever you go, I’ll follow you. I don’t care how far it may be.” He said that was fine, but if he ends up at the VA, because the VA tends to hire older doctor’s, he wouldn’t be able to see me anymore. I almost started crying. I then told him, if he ends up at the VA, he’ll have to meet me in the park. I told him, I’m not kidding. I’m trying not to get myself all worked up over something that may not happen. I have another appointment with him next week. I think he’s leaving in September. I’ve been praying like crazy that this doctor gets a job anywhere, but the VA. I have never heard of a practice forcing a doctor out. I would much rather see a doctor with 30-40 years of experience than one fresh out of medical school, because that doctor will never figure me out. This doctor has been so great at looking at the whole body. He listens and watches when I talk to him. He’s noticed things just by watching me talk. I’m going to be heartbroken if I lose this doctor right in the middle of him “figuring me out.”
After so many years of feeling like I wasn’t believed, even though all of my diagnoses have been found through medical testing, so how can you argue with those results? To just have, if only one doctor, that believes in you and listens to you and reassures you that you are not crazy and that everything you’re experiencing is real, and tells you he/she will do whatever they can to help you, is an amazing feeling. My primary doctor is very good, too, but she’s just a primary care doctor. She does go above and beyond to get me to the right doctor’s and to look at test results of tests done by other doctor’s, who aren’t getting me any answers. Between these 2 doctor’s I am finally in very good hands.
Validation is such a great feeling. Almost all of us with several invisible, chronic illnesses go years seeking answers and validation. I”ll shut up now…..I’m just making up for the other night when I was unable to give a proper comment…..lol lol lol XX Take care. 🙂 I don’t even have it in me to proofread what I just wrote, so excuse me if it makes no sense. I just posted to my blog and now I’m reading other blogs and trying to comment the way I like to. This book I just wrote is totally unnecessary, though……sorry………………………………:)
I LOVE when people connect enough with a piece of my writing to leave me a “book” for comment!
I’m so sorry your doc is leaving you 😥 I hope he won’t end up at VA or anywhere you can’t follow!
I have actually had some fantastic new docs, and absolutely horrendous old ones. Some of the newer ones have been taught more about certain conditions since research is new, or they’re more willing to accept that they don’t know everything.i got lucky and a newbie gastro was on call in an ER when I had my first EoE impaction (esophagus swelled shut around food, which is an emergency even tho I can breathe still), and he prevented me from having an emergency endoscopic procedure to remove the impaction because he knew of a drug cocktail that’d do it with less damage and no anesthetic. Whereas, some of the older docs I’ve had refuse to listen and repeatedly tell me I’m making things up because “I’ve never seen that” (I eventually leave them.)
It really does all depend on the doctor though! I’ll see anyone that has good reviews, and then judge based on the first appointment. I hate having to change docs tho.
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Glad you like books, because sometimes I do get carried away, but I think we have a lot in common and sometimes it’s hard to find someone that has more than one disease the same as you.
Yeah, not all doctor’s are bad, it’s just very difficult, as you know, to find a doctor to look outside of their own specialty. With people like us, you really kinda gotta do that. You have to look at the “whole picture.”
I’m glad that ER visit went the way it did, for you. That’s amazing. I find good GI doctor’s, around here anyway, are really hard to come by, especially in the ER. With this Gastroparesis, I”ve had a lot of bad experiences in the ER. I’ve had a few good experiences, too, but not as many………..I appreciate a doctor that can say, “I don’t know.” It takes a lot of courage to say that, I”m sure, but I would rather be told that than to have them make me feel like I”m making this stuff up because I have so many other things I’d much rather be doing than hanging out in anyone’s ER or doctor’s office.
I can almost always tell whether a doctor will be a good fit for me, on my first visit. I have so much knowledge and I’m also a nurse. I haven’t worked as a nurse in a very long time, but the knowledge has sure come in handy. Very thankful for that.
I’ve just been looking for this doctor forever, it seems……………………………and now he’s going to be gone……………………I just hope I can still see him, wherever he ends up. XX Take care. 🙂