Hypermobility but not EDS, other fishy things and referral merri-go-round

[Stray Tulip]

Hello, I posted a while ago and have since seen a genetics doctor who seemed to do a good review. She didn’t do any gene testing because based on my limited knowledge of family history (no major heart problems in closest relatives)and my knees and arm span being normal, she said I do not have a connective tissue disorder. But she said I did have hypermobility issues (all over my upper body, including spine) and that this could easily be causing my spasms and chronic pain. So she told me to see a physical therapist (I’ve already done this many times but never had any diagnosis beyond “back pain” or chronic shoulder injury, so we always work on these muscles with little success).

I am seeing a new doctor in physical medicine next week. I’m nervous about a dead end but also trying to be hopeful. I’m in a lot of pain, depressed because of how limiting my life feels, and my meds aren’t working anymore. I feel better when I wear a pretty heavy duty back brace but am afraid the doctor will tell me that’s terrible (deconditioning) without giving me any clear direction to get out of this mess.

If not EDS, can you still have a hypermobility syndrome? Who diagnoses that? It’s confusing because it seems like there isn’t agreement on whether EDS and joint hypermobility syndrome are the same thing or not. My knees are normal, and hips mostly okay. But every joint in my upper body is hypermobile (jaw, thumbs, fingers, wrists, shoulders, spine). I also had two radiologists cite Chiari 1 (5 mm) but neurosurgeon and neurologist disagreed because there was spinal fluid space. But my neck doesn’t curve in the right direction. What happens when I’m standing? I don’t feel like I have any power to ask if an upright MRI is appropriate. Sitting and standing cause the most pain (moving is okay and laying down is best)…stabbing pain in spine, with worst days being a combination of pain all over my upper body (spine, head, jaws, eyes). I can’t stand it. It’s exhausting to hold myself up.

And I also don’t feel very assured that I’m not just some mutation of the Marfanoid features in my family (my grandpa was extremely lanky and did have an aortic aneurysm, but not found until he was very old…mostly very healthy family but nobody has had the pain like I have had and I am not very old at all). Why wouldn’t they check more if you have so much hypermobility and pain? Is it an insurance thing, like they need to know a 40-year-old parent had a major aneurysm in order to do more testing? MRI also showed small cyst near spinal column (some form of congenital cyst, common in Chiari 2, which for sure I don’t have…but all these pieces are weird…we do know that I was not a healthy baby…4 pounds full term, lungs not working and later collapsed). Maybe none of this fits together but I don’t know why I have so many problems. I take really good care of myself.

Sorry to come on here with none of these clear diagnosis. Will a physical medicine doctor be helpful? Are there questions I should be sure to ask with any of this? I feel burned out and am afraid to advocate for myself any more because I don’t want to be seen as a mental case. But I’m really exhausted. Thank you so much for reading.

[Mog the Dog]

I feel burned out and am afraid to advocate for myself any more because I don’t want to be seen as a mental case. But I’m really exhausted.

Hi Stray Tulip,

Mog the Dog here. You may not be able to get the answers you seek from the new doctor, but you can begin to feel more empowered to advocate for yourself. It’s a daunting journey, but there are paths through it that are much less thorny and scary than the ones on which we sometimes find ourselves wandering and lost.

As far as the fear of being labeled a mental case goes, if a doctor wants to label your symptoms “psychogenic”, do a 180 and head for the door because you have found yourself on a dead-end path. No need to get angry at such docs and try to convince them they’re wrong. Just do the 180 and head for the door.

A good doctor is a curious doctor who finds unfamiliar conditions intriguing rather than burdensome. You might have to travel to find one. They are out there. I have met too many to count.

Sometimes just knowing that others are on a similar journey is enough to help us in the face of burnout and fear. I found that reclaiming my natural sense of curiosity helps snap me out of burnout mode. Try checking out a youtube video on the latest research in Ehlers Danlos Syndrome and watch passionate doctors being passionately curious about finding answers for us. No guarantees, but about 30 minutes usually improves my mood. Try it and see if you agree…

MTD

[Barbara]

A good doctor is a curious doctor who finds unfamiliar conditions intriguing rather than burdensome.
MTD

Perfectly put MTD!

[Mog the Dog]

Speaking of curious doctors, I found a gem of a gastroenterologist who agreed to do a routine colonoscopy on me last year without sedation. (Can’t speak for anyone else, but the benefits of avoiding unhealthy sedation far outweigh 20 minutes of discomfort for me.)

I rolled over on my side to get into the optimum position for the procedure and then my shoulder popped out of the socket about the same time the doctor inserted the endoscope into my back end. The nurse saw me wince in pain, and I told her that I had EDS and that my shoulder had just subluxated. She informed the doc, and he got all excited and curious and full of questions about my EDS symptoms as he continued to snake all 6 feet of the endoscope all the way up to my appendix. (It took as long as Elton John’s tribute to Princess Diana playing on the radio to make the trip there!)

Following the procedure, the nurse could see the high level of pain I was in as I struggled to get my shoulder back into its rightful place in the socket, and she thought it quite curious that it was the most painful part of the unsedated colonoscopy for me.

By the way, it was also the most fun I have ever had during a medical procedure. Four or five of the staff members came wandering in to ask me what the colonoscopy felt like without sedation and the youngest of them got all excited and said, “I want to try it!” The doctor went into docent mode and pointed out all of the landmarks along the way. He took pictures of what he called all of the good “Kodak moments” and printed them out and told me I could post them on Facebook or make Christmas cards out of them. Heh…heh…heh…

So, there are indeed exceptional doctors out there. And, yes, sometimes we find them in the strangest places…

MTD

[Stray Tulip]

Thanks everyone. I am hoping for a good doctor…bringing my notes and questions.

[Stray Tulip]

Well, appointment felt a little useless because it was rush-rush tone, so I tend to shutdown a bit. But I did ask about meds and also got referred to better PT for my pain. Still nothing more descriptive than “back pain” diagnosis, headaches, and hypermobility at multiple sites. This doc wants me to focus on scapular and cervical stability…the neck stuff would be great because I have absolutely no idea how to strengthen my neck without giving myself a headache.

MRI bit attached. Radiologists called out Chiari (approx. 5mm) but there is some spinal fluid room there…not all jammed in there. But I was really unhappy with my neck curve (non curve or a bit backwards curve). I’m in my 30s. Is this normal? How do I un-do or stop this from moving in the wrong direction? My head has always felt too heavy for my body…bobble head feeling (doc thinks headache and upper back pain is all connected to how I support my head and arms…noted that my neck is long, thin, and I’m just at a disadvantage in some ways because of how I’m built). I’ve had to ask a hair stylist to help me lift my head out of the sink. I mean, I really am a wimp. But do wimpy muscles cause your spine to curve the wrong direction or am I constantly compensating for a weird shape here? I take pretty good care of myself but it seems like really hard work to do normal things like sit still in a chair or be upright for more than a few hours.

Sorry if nobody can really answer here, I understand. No more referrals for me…just PT. And that’s sort of fine because I’m tired. Adding gabapentin and I hope that helps.

p.s. that appointment sounds like a riot, MTD! I have never dislocated a joint, which makes me understandably less hypermobile-like (one of the questions genetics doc had), though they pop all the time.

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