It was supposed to be a consultation. There were 45 minutes blocked off for it. We entered the room and met someone I presumed was the geneticist but all I think I heard her say was her name, not who she was in the scheme of things. My nerves had got the better of me and my body was letting me down. I felt so jittery and I don’t think my ears were actually functioning when we first went in. Also in the room was the genetic counsellor I met a couple of months ago when she came to the house to get a family history.
There are 6 types of Ehlers Danlos Syndrome and each type has it’s own set of problems and symptoms. All in relation to collagen, the connective tissue of our bodies, which makes up 80% of our body. It’s not just an external thing, collagen is responsible for keeping together and helping our internal organs function.
The most common two, classical and hypermobility are pretty similar and they both exhibit signs of hyper mobility (flexibility) and skin elasticity.
The Doctor tested my son against the Beighton score for hypermobility. A score of 5 or more, puts him in the hypermobile camp. He scored 3, being hypermobile (bendy) but not in all the right places. The Beighton score is very rigid, in that they bend 9 specific joints and you score a point for each one you bend more than you should. Although he only scored three, he is bendy in other area’s but this doesn’t count. During these nine bendy tests, the person I presumed was the geneticist asked for the opinion of the counsellor on his bendyness.
She then checked the elasticity of his skin and wasn’t sure, so asked the counsellor present for her opinion and then ruled it out as children are “difficult” She even commented to the counsellor ~ you know more about this than me….. (!!!)
She viewed his bruises on his shins and saw the petichiae rash on his torso but appeared to ignore it.
She then went on to tell me that he doesn’t have the two more common types of EDS as he didn’t pass the Beighton test and he didn’t have vascular type as he doesn’t have the “look” which is “typical” of vascular type. Along with that “look” (pinched nose, wide eyes, thin lips) there are several other quite significant indicators of Vascular EDS but she had already made her mind up and didn’t look for the other symptoms or ask any questions. I’m not sure she was even paying attention when I tried to speak.
I was dumbfounded. She just dismissed us. I tried to fight to be heard, asking if his leaking capillaries were relevant and she said no, that it is just capillary fragility. I asked, “fragile because of the collagen?” all she answered was no.
Here she was dealing with an anxious mother and she didn’t reassure, explain or question, she just looked as though she was rushing her way through it and sent us on our way after only fifteen minutes in there.
I was furious, but couldn’t voice it, I felt wrong for pushing, as though I want him to have this terrible disorder, but I don’t want him to have it, I just don’t want him to have it and not be diagnosed with it.
On the way out, the counsellor said I could call her if I had any questions. Questions??!!
The research I have since done and the questions I most definitely will be asking on Monday are for another post….
Such a disappointment, I've had such varied experiences with medical practitioners. Some listen intently, take in your views and opinions. Some dismiss you completely…. it's a shame really.I wonder whether there's a complaints procedure with the PCT?
Jane – You really must try to get an appointment with Dr Hakim. It's obvious from their discussion they don't know enough about it all. This really makes me mad. How can they give any yes/no diagnosis without knowing anything about it? I am a bit stretchy, not much, my son is very stretchy and bendy. My brother is extremely stretchy but not at all bendy. Each individual is different. I don't wish to diagnose you or talk you into something but you really must see an expert – the best by far is Dr Hakim. I paid privately to see him. It is very well worth it. Please let me know if you wish to go down that route – and don't lose faith. Effie x
Wacky Lisa says
I'm sorry this happened to you.Even if the doc could rule out EDS it would have been nice if they'd helped you find some kind of answer of what it might be.I have to agree, I think it would be good to try to see someone else. I'm in the US & things work differently here so I honestly don't know if you can get a 2nd opinion 🙁