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Geneticist Recap

Sorry I've been so absent. A lot of things have happened since the last time I posted.

For one, I got a puppy! She is a Tiboodle and has already become my companion. I hope later to train her to alert to migraines and POTS flares. Then the day after my appointment I went to Sydney. It was a pretty awful trip and I'm flaring really really badly now but I'm home with my puppy now so everything is ok.

Ok now to my appointment...

I was so nervous I couldn't eat anything before hand so I nearly passed out! But the specialist was really nice and listened to all my concerns. I'm a bit annoyed at myself because there are so many questions I simply forgot to write down and so didn't get asked. But the result was I got my diagnosis of Ehlers-Danlos Syndrome- Hypermobility Type/Hypermobility Syndrome. I was very confused because he kept talking about hyper mobility syndrome and from my experience if you call it that no one takes you seriously. However, he said that it is basically the same thing so you can call it either. It's just mainly to distinguish between the non-lifethreatening and the life threatening forms. I just hope that he wrote EDS-HM in his letter back to my GP.

He's also sent me for a heart echo to check that I don't have the vascular type, which is the most serious. It was suggested that I go back to the pain specialist and potentially the pain clinic I attended because it would be more useful now. So I hope that it'll be possible to go back and that they accept me again. The one I attended was very beneficial and I'd like to do it again, I just wasn't in the right place mentally to attend when I did. My situation has changed significantly so I would benefit from going back. I also have to go back to my neurologist because I need to chat to him about botox therapy and how I don't think it would be a very good idea with my lax connective tissue. I'm also going to chat to my GP about going to see a cardiologist because the dizziness, chest pain and heart palpitations have gotten more frequent. I really noticed how much I rely on salt when I was away and didn't have access to it.

Something that I've probably mentioned before is that I wanted to go see a psychologist. After my appointment I got up the courage to mention it to my mum and she thinks its a good idea. So really I got a lot out of the appointment. I certainly got a lot of referrals and new specialists that I have to see. I don't really know how I feel about the appointment. I am disappointed in myself for not asking a lot of questions, but all in all it went quite well.

It hasn't really hit me that I have my diagnosis but maybe it will when I see my physio next week.

BB :)

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