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Ehlers-Danlos Support UK
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Genetic Testing St Mary's Hospital Nightmare

Today I had my assessment at genetic testing at St Marys Hospital Manchester. I had been referred here after a consultant gynaecologist wrote to my GP to say I 'almost certainly' had EDS. I had never heard of it before. The consultant had told me to 'Google it. When I did I found I had most of the signs/symptoms associated except for hypermobility. ‎

‎ I was nervous waiting for appointed for last few months as a lot riding on it. It said to expect to be in clinic an hour and a half. I was there 10mins. I saw a geneticist who had a cursory look at my hands before asking if I could do 'party tricks' or 'gymnastics'. When I said I couldn't she asked about my family history mum/dad/siblings. I told her I didn't know family history as brought up in care. She couldn't quite grasp this concept and kept asking 'what about your father'? What about your siblings? I ended up bursting into tears as this is a trumatic part of my life.

She said she would write to my GP to say 'nothing wrong' but there is something very wrong. All my symptoms. No qualty of life. Now my GP will treat me even worse than he already does. Which is very bad.

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That’s doesn’t sound good at all. My advice would be to go to PALS (Patient Advice & Liasion Service) and explain the situation to them, as it sounds so awful. They can also help with any complaint you may want to make, but mainly could be useful with maybe reorganiseing another appointment with an advocate for you, or with a doctors who’s not an arse. So sorry you had that experience.

Not all types of EDS have the dislocation symptoms so very important, especially with no family history, to follow up. Hope you’re ok.

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Thank you. Yes I am not really OK. I've been very upset since yesterday. Waited months for apt. It said on letter it would last one and a half hours. I was out in ten mins in tears. Asking same question over and over I couldn't answer about mother/family/siblings. Didn't examine me. Asked can I touch the floor. Can I do party tricks gymnastics. She seemed unsure what to do.

Said she would have to speak to a colleague then changed her mind. Said she would write to my GP to say 'nothing wrong me'. I said but there is look at all hospital treatment I've had all my life gastric problems etc. She ignored me. I've sent an email to PALS. Thanks. It's been awful with no-one to talk to. Makes me feel I keep getting bad exp with hospital as no-one to stick up for me. Plus I always seem to get the person who is in training/registrar etc

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I wouldn't get my hopes up with PALS. When I had to deal with rude consultant who dismissed me and was joking about my symptoms that he "never heard of anything like that" and caused me to cry for entire week, PALS have arranged second consultant which had the same attitude and was not interested in finding out more but how to discharge me. I wrote complaint to PALS, the consultant wrote insulting letter to me saying that he is sorry his action caused me upset and then INSINUATED THAT I AM A DRUG SEEKER.

I sent a formal complaint to PALS, they have promised to setup a meeting but they never did! This has caused me so much stress and delayed my diagnosis by almost a year!

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Your right about PALS. I contacted them and they haven't bothered to respond so far. I can't see anyway forward with this.

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How did your get your diagnosis in the end? How did you manage to get someone to lsiten to you after such awful treatment

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I am so sorry for your treatment by the geneticist and agree with the other commenter that you should contact the PALS connected to the hospital. The ridiculous thing is (apart from your terrible treatment) that Hypermobile Ehlers-Danlos Syndrome is not diagnosed by genetics as yet. It is the one variant of EDS that has not had a gene mutation identified. I am part of a genetic project to try to identify the gene involved with H-EDS. You need to be referred to a Rheumatologist who can diagnose you using the Brighton and Beighton criteria 2017. If they thought you had another variant of EDS you would need a genetic consult. May I suggest you get a new GP and query their knowledge about Ehlers Danlos. Maybe joining one of the group's on Facebook might help. BEST WISHES.

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Thanks. I contacted PALS who didn't respond. My own GP doesn't want to know. I don't think there's much I can do. I will take your advice about facebook group group. If I can find it. Didn't have much success with EDS helpline. They were very dismissive.

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PALS are 'part of' NHS - Get in contact with The Patients Association, they have no connection to the NHS and I have found them kind and helpful xx

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Yes tried patients association. Wasn't much they could do though except suggest complaining

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