Saturday, July 20, 2013

6 Months on!!!!

Hi Everyone,

I hope this email finds you well and pain free.

It is 6 months on and what a fantastic place to live!!!! We made it through winter and now it is a very warm summer. I can not believe the time has gone by so quickly. My son is so happy and so am I, we are so pleased that we made the move.

We are having to have another gene test. My genetic counsellor from NZ has asked Tris and I to have one more gene test, as there is apparently another genetic condition that is similar to EDS. Apparently my facial features do not match classical EDS, even though my atrophic scars, velvety hyper-extensibility skin, flat feet, molluscoid pseudotumors, joint hyper-mobility, muscle hypotonia and I had delayed gross motor development, do.

So on the 15th August, Tristan and I are off to St Georges Hopsital in London to visit the genetic services there. I am actually looking forward to meeting new genetic practioners who have perhaps had more people with classical EDS and able to take a really good look at us. It will also mean that I will be able to book in my yearly MRI about my enlarged aortic root and have a medical base here for Tris and I in London. I am going to get them to look at my left hand as well, as my lower carpometacarpal joint keeps popping out of place and pushing back it in feels so gross..

I will let you all know how we get on.


P.S: Why don't I suffer from fatigue like the other people who have EDS on YOUTUBE do???? I have never experienced this. This is a mystery to me.