In my previous post I told you about the joys of being hypermobile and how I’ve been dislocating the digits of my fingers without even knowing I did.
I also made mention of my large hands, and not without reason.
You see, since the rheumatologist really didn’t give me much to work with, I googled “hypermobility” – after I’d stopped fuming, obviously. And Google sent me to MedicineNet.com, which stated that
“Joint hypermobility is also a feature of a rare, inherited, more significant medical condition called Ehlers-Danlos syndrome, which is characterized by weakness of the connective tissues of the body“
So I started researching this Ehlers-Danlos Syndrome (EDS, for short) and was amazed by what I found out.
So people with EDS bruise easily?
That sure sounded familiar.
In the picture below I’m showing some fresh bruises I got at ju-jitsu training a couple of years ago. It was not uncommon for me to get these bruises. In fact, I had them all the time – and bigger ones than these, too. Also, they weren’t the only bruises I got.
Oh, I still get bruises. Lots of them, and most of the time I don’t even know where they come from. Sadly, they’re never from ju-jitsu anymore, because I’ve had to give up on that.
In EDS, the skin is almost always affected. In my case, it’s velvety soft and, unfortunately, also easily damaged.
Yep, I got this abrasion on my elbow from a nice romp on the tatami. It didn’t take any abnormal effort, and happened all the time.
I also get these funny abrasions in my neck all the time. (No, it’s not freckles, and it does hurt.) The affected area in the picture below is much smaller than what I usually get, and it’s already healing quite nicely, so it’s not all that visible anymore – and thank goodness for that! How I get them, I truly do not know. At first I thought it might be caused by rubbing my hair dry too enthusiastically, but now I’m extremely careful when drying my hair, and it still happens just as often.
Oh well, at least I have normal wound healing and normal scarring, so that’s good.
Unfortunately, the list of possible symptoms goes on and on, and I’ve got lots of them. Varicose veins, gum disease and other dental problems, chronic pain (joint pain and pain in my limbs), dizzy spells and other fun stuff involving the autonomous nervous system…
Oh, and then there’s the family history of course, with my mum and sisters being hypermobile, my mum having a velvety soft skin too, my gran and at least one of her sisters who also had this really soft skin…
And what about those large hands, you might wonder. Well, that’s where things get even more interesting, because that’s actually a Marfanoid feature. In the past I have been suspected of having Marfan syndrome because of my large hands. No, I don’t have Marfan’s – I’m not tall enough. But I’ve got some second cousins who have a much more outspoken Marfanoid habitus.
So, you’ve got some of the outward features of Marfan syndrome, but not the syndrome itself. What’s the big deal?
Both Marfan syndrome and EDS are hereditary connective tissue disorders, and they are related. That’s why they may share some of the same features, so some people with Ehlers-Danlos may have this Marfanoid appearance to a greater or lesser extent. In my case, these large hands of mine, my thin face and body – and, OK, let’s throw those crowded teeth into the mixture as well – may very well be indicative of Ehlers-Danlos.
So next time when my neighbour asks me what I do to remain so beautifully slender, maybe I should answer, “well, that’s because of my illness.” Hmmm… no. I don’t think so. I’d rather she envies me. I don’t want anyone’s pity.
What I do want, is a proper diagnosis. That’s why I went to see my GP and gave her a list of my symptoms. A list as long as my arm. That’s also why I showed her the little trick with my fingers, and found out about the digits dislocating.
And it’s how I got my referral to the Marfan Team at the University Hospital in our region.
Life sure is interesting.