I was diagnosed with Benign Joint Hypermobility Syndrome in 2010 when I was 43. I scored 8/9 on the Beighton Score and had other clues such as “mildly” stretchy skin, mildly blue sclera in my eyes, life-long bowel issues, an overcrowded mouth and high roof arch, migraine, heart murmur, mild scoliosis in my spine, congenital spinal stenosis, easy bruising, skin which scars easily, skin which tears easily, a positive Gorlin’s sign (ie being able to touch tongue to nose), chronic fatigue and widespread pain for which no reason could be found. My Consultant said she only diagnosed Ehlers-Danlos Syndrome when there was “significantly stretchy skin” which I don’t accept as correct. With a family history of the symptoms of EDS (which she didn’t ask about) and my collection of symptoms it was clear I have Ehlers-Danlos Syndrome and whilst I accept I don’t have freakishly stretchy skin, to me my skin involvement is not “mild”.
My skin in general is a bone of contention to me. As well as weird lumps, bumps, moles, pigmentation and scars I’ve had some strange skin on my knees and tops of my feet my entire life, yet when I’ve mentioned it to Doctors in connection with my Ehlers-Danlos it’s just been dismissed.
It doesn’t itch and no matter how much moisturizing cream I’ve ever put on it never looks any different. According to Doctors it’s not eczema or psoriasis but then they don’t tell me what it is. Needless to say I don’t ever wear dresses above the knee To me it points towards Classical EDS but then I’m not an expert so what would I know?
At the time of my Joint Hypermobility diagnosis I’d never sub-luxed or dislocated a joint, didn’t have GERD or a hiatus hernia to my knowledge and had no idea I also had mast cell disease. However, within 2 years of diagnosis my mast cell disease was potentially life-threatening, I had walking pneumonia from undiagnosed silent reflux (which is now not silent in any way!) and had subluxed 6 joints. When the Powers That Be say Ehlers-Danlos is not progressive IMHO they have no idea what they’re talking about.
When children and adults under 30 are diagnosed with Joint Hypermobility Syndrome I wonder if they, like me, actually have EDS and it just hasn’t progressed to the stage of meeting the criteria. Of course, not everyone with JHS has EDS but as no data is kept it’s impossible to know how many younger people’s disease goes on to be re-defined as Ehlers-Danlos.
Another part of my diagnosis which with hindsight was sadly lacking is the fact that I was offered no genetic testing. I personally think this should be compulsory for all suspected EDS patients, especially if there is a strong family history. My brother is 6ft 2″, has eyes which slant downwards at the corners, much stretchier skin than me, had ‘growing pains’ in his legs as a child and had to stop a promising professional football career due to knee problems. He has flat feet and a high roof palate. As a child he used to ‘pop’ his knuckles and do robotics (a dance craze at the time) because he was hugely flexible. Now in his early 50s he’s so stiff he can barely move, yet he’s never been ‘ill’ like I am or had any of the bowel issues, pain or fatigue that I do. He definitely has Marfan’s traits but luckily for him they don’t seem to have affected his life to any extent. As a child he had chronic bronchitis which was put down to a dust mite allergy (no idea how they worked that out as he was never given skin prick testing) but he apparently grew out of it. He’s still allergic to dogs and horses though, oh and eggs. Lots of children have allergies and some kids do grow out of them, but bearing in mind our family history of mast cell disease I do wonder if there is some connection.
My Mum was hugely flexible as a child. She has soft, stretchy skin which scars and bruises easily. She has pectus carinartum (aka pigeon chest) which is caused by defective connective tissue which holds the ribs to the breastbone. She’s had reflux for 30 years and had lost 25% of the bone mass in her pelvis due to osteoporosis by the time she was 54. She had a collapsed lung for absolutely no reason in her forties which is found in some types of EDS but not usually the hypermobile type, and horrible varicose veins which developed in her twenties. She’s had 3 fatty tumours removed from her skin and has very wide stretch marks due to pregnancy. She also has dupuytrens contracture in her hands, which is due to defective collagen. I can find no data to connect dupuytrens to EDS, but as there is barely any statistical data on EDS to start with it’s not surprising that no-one is looking for a link. It seems too coincidental to me that someone with EDS has a genetic, un-connected connective tissue disorder of the hands. She has obvious mast cell disease, though not as severely as me.
So my family history seems to be a mix of Marfans traits, Classical EDS traits, possibly vascular EDS traits and Hypermobile EDS traits. Chuck in MCAD and other inherited diseases (familial essential tremor, dupuyrens contracture, early onset osteoporosis – all through the maternal line) and to me genetic testing should have been carried out.
I don’t know whether at this late stage to push for genetic testing or not. I’m not sure what it would achieve, however it might help my future disease management if it shows I have classical EDS traits as well as hypermobile. It would also obviously be beneficial to find out if my Mum’s collapsed lung was connected to her EDS or not and whether unexpected vascular events are something I need to be concerned about.
I get sooooo fed up of being my own Doctor and at having to fight for every blummin thing. What happened to medical staff looking after me and telling me what I need, instead of the other way round? 😦