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alice63994 alice63994

My genetics appointment wasn't very good...

Hi, 

I have PoTS, and due to this and a long list of other problems/symptoms my GP and cardiolgist both decided to refer me to genetics to be tested for Ehlers Danlos syndrome. So I had my genetics appointment two weeks ago now, and it left me feeling a bit confused and unsupported. Firstly, my geneticist did the usual asking about family history etc, and then asked me about my own symptoms, then checked my scars, skin, striae, height, arm span and hypermobility. I scored 8/9 on the Beighton scale and he claimed that all of my symptoms point towards Ehlers Danlos syndrome and i meet all of the criteria. But then he went on to say he 'doesn't think a diagnosis is helpful' and he doesn't 'agree with Ehlers Danlos syndrome' (?!). He then looked at me and said 'do you want to have Ehlers Danlos?' This made me feel a bit uncomfortable and I thought about how to answer it properly and I just said that if i do have ehlers danlos, then I do want a diagnosis, so that I can have an explanation for all of the problems I experience and also i believe its very important to be diagnosed incase more problems arise in the future and I can also be then taken more seriously by health professionals. He then went on again for ages about how he doesn't think a diagnosis is helpful even though I have all of the symptoms etc. So then I said, so do I have Ehlers Danlos? and he said yes, all of your symptoms are the explanation of Ehlers Danlos type 3. He then said he would send me and my doctor a letter and that he'd never see me again, and he never asked me if i needed referrals to gastro, physiology etc. Its now been two weeks and I still haven't received a letter and neither has my doctor, is this normal? He also never ruled out any other connective tissue disorders and did not do genetic testing for the other Ehlers Danlos types. Should have this been done? Not quite sure what to do as I actually don't know if he did officially diagnose me with EDS and also I need the letter to be able to move forward in terms of getting the right help etc. If anyone could give me some advice that would be so great, thank you so much. 

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