I thought I'd ask whether anyone else here has Ehler-Danlos Syndrome. I haven’t much hope as there’s nothing in the search engine (except for me) . This will be bit long (and boring?) while I explain what it is, how I found out, and why I'm asking on this board. Skip it, if it's not on your radar - no offense.
It's a hereditary disorder and thinking is that mine comes from a spontaneous mutation. Comes in types - mine would be the hyper-mobility type or maybe a mixed type, with all the features of the H-M type. Among other problems (they seem unrelated but I guess they're all on the same gene) , it pretty much ALWAYS causes kypho-scoliosis! Major joint laxity, too. (My hips kind of pop in and out as I sleep, and all my joints started "rusting out" prematurely). But then, although my hands have always looked kind of skeletal - "geroderma" there is typical - my facial skin is extra unlined and "velvety". One silver lining.
But now that I'm older, the negatives are dominating my life. My joint laxity is leading to joint failure - especially, my spine, of course. But besides my thumbs (below) I've also had other joints repaired and need more. Most importantly, that back! Three surgeons now have described it as "collapsing" and all seem to come up with colorful metaphors which do not amuse me. ("pretzel"?).
It's diagnosed clinically, but a very hotshot international spinal surgeon in Israel (where I used to live) told me upon examination - especially range of motion studies - that he thought I had it . First time I heard the term. He watched me proudly go through my regular stretching routine (just short of a contortionist) - I could do it almost without warm up, even now - and said: "You're hyper-mobile"
"Thank-you!" I smiled.
"No, no!" he exclaimed, emphatically. "It's not a compliment, It's a problem! I think you have Ehler- Danlos!"
I'll say it's a problem! I didn't have that much pain at the time, so I kind of forgot about this weird syndrome idea until ten years ago, when things started to obviously "go". Volunteered to do Hebrew calligraphy for my son's Bar Mitzvah class' certificates, and found after a few (you have to grip the special pens tightly), my right thumb was REALLY hurting. Was shocked to learn, upon Xray, that the cartilage was pretty much worn away in both ("Basal joint" of thumb).
This was and is a catastrophe for a graphic artist - you know, thumbs are so important, sometimes people who lose them, get their big toe grafted on to replace them (no, thanks!). I had the right joint reconstructed in a complex operation using harvested tendon from my forearm (recently repeated on the left side) - and just a word to the wise, however tangential. Hands are complicated. That's why there are board certified hand surgeons. Specialists exist for a reason. Use them if you have a special problem! Any artist (or musician - or surgeon!) should NOT go to a generalist for a hand issue. I wish I had thought this through better!
As usual , though (same as a great many locals), my geographical isolation tempted me into using second best for a complex medical problem (Heck, he said he could do them, had done many! Kicking myself since ).
My (talented) local knee specialist did mine! I've lost some fine motor coordination and it may or may not be because he wasn't -- "as good". For me, that spells professional death - or almost, to my ability to do some of my work. It requires perfect mastery of my hands. I think with them. Bad enough that my cervical stenosis also affected them! But then, who cares (in a way) now that my scoliosis disability, has prevented me from lifting, sitting, standing straight - even thinking straight? That's because of either pain or pain meds (Choose your poison). So, Art - goodbye (only for now, I hope).
Now that I'm seeing scoliosis-deformity specialty surgeons, I make a point of mentioning this problem . After all, for all I know, it could influence how they work on me, or even my eligibility for surgery. Personally, I’m VERY concerned about the fusion preventing the extreme stretching which is my primary pain reliever, especially for my badly damaged lumbar area. Will there be compensatory relief from the stabilization? If not, maybe I should stick to my exercises and expand them, under supervision. (Having more pain afterwords may well be my worst fear, since like most of you, I’m going into it for pain relief). For better or worse, this surgery is a ONE WAY TICKET!
Most don’t seem to pay attention. So I started (without permission) to actually show them some of my stretches! After startle response, they are impressed ("Wow!"). They seem to see it as a good thing, which makes me think they don’t “get it” - what I’m saying about the pain relieving angle. (Remembering - "it's not a compliment"!). Worrying! I REALLY wish I could get an attentive, informed answer about this. I also REALLY wish I could find a surgeon for whom the syndrome is more than an esoteric term they once learned in Med School! I feel sure it should be considered in planning my surgery.
Maybe I’ll see if there are consultants on the Ehler-Danlos Support sites online. It always causes scoliosis so it’s too bad if it’s not been studied more, especially for surgical implications. Guess that’s one of the drawbacks of having a "rare disease…" Too little research.
I think it's good that there will now be one searchable reference on this site too. Any later “scoli” with E-D will find a comrade.
Maybe I'd be taken more seriously if the diagnosis were formally confirmed by a geneticist (another out of town trip *sigh*). Most irritatingly, two surgeons have - without warning - grabbed a (repaired) thumb and twisted it backwards towards the forearm! Makes sense, as this is the key test of the syndrome – can the patient ‘s thumb touch their forearm? There are other physical tests too, but this is the easiest and best known. (I used to be able to flip it there easily - my famous trick in Jr. High. Loved to get that "Eeeew!....Do it again.") .
But it's VERY BAD for them to twist those delicate repairs. (Surgeons: THINK! ASK!!) You’d think that having had to have both thumbs reconstructed would already clinch the diagnosis!
Maybe this is mostly a personal indulgence to vent about my problem - how what once seemed to be only a harmless quirk (like - can you curl your tongue ?), turned out to be life-damaging. Got it off my chest! Also, I don't know how to incorporate this into my surgical consults. I've already gotten the message that they don't seem to know much about it. (or care). How to handle that? Thoughts?
Then too, I figured it would educate those who had never heard of it (most of you, probably). And - who knows? It might be helpful to someone on board, who sees themselves in the symptoms described (there are more!) and wants to explore. It’s one rare cause of “idiopathic scoliosis”.
Even more important (since prevention is key), parents of “scoli” children may want to read more if their child has symptoms like mine (and there are other, worse kinds too!). Early recognition can be a life-saver. If children are treated early, it can avoid many of the worst outcomes. I’d probably be fine now if my parents had known, and I’d followed recommended guidelines (including bracing and special PT )! I even tried to edit the thread title to add - ("personal story and also parent alert") - but was unable.
Could also be later, someone will hear something and even think to get back to this post . Better still (for me!), maybe someone here has - or has heard of someone - with this syndrome. They might be able to provide more spot on guidance. Since it's one cause of severe scoliosis , I thought I might find I wasn’t alone. (Note, it’s somewhat related to Marfan’s syndrome, and a distant cousin to Charcot-Marie-Tooth) .
Apologies to anyone who got to here and feels their time was wasted because it was too OT. I figured (hoped) most would skip it if they weren’t interested.