Wednesday, 22 July 2009

The Diagnosis

Genetic testing had began April 2008 so after many months of hearing nothing you can imagine our shock at receiving a letter on 22 June 2009 - stating they had found "a bit missing" on chromosome 17 which is the cause of all of Emilys problems. That was as much as the letter told us, I obviously contacted the Genetics Clinic straight away - our Geneticist was on annual leave for 3 weeks - I was told the secretary would arrange for an appointment to be sent out on her return!!!!!

I searched the net over the following weeks trying to link something to chromosome 17 and the problems Emily had encountered. I came up with many things - some very scary things, some not so scary things - none of which turned out to be the syndrome that Emily has.

After eventually complaining to our clinic we finally got an appointment to see the Geneticist on 22 July - thankfully they had rang to say they had a cancellation appointment come up at a hospital close by to us.

So 22 July 2009 @ 11 am we were told of Emilys diagnosis..... 17q21.31 Microdeletion Syndrome. The Geneticist couldn't really tell us a great deal about it as the condition is so rare so she didn't have any research papers or anything she could give us, although she would get something sent out to us. I don't know if it was shock but I struggled to maintain much of the information given to us that day - only a few things were rattling around my mind "only 22 others" "1:16000 chance" "mental retardation" "may never live independantly" - I was shocked and scared. We left the office feeling slightly numb - we had nothing, not even a scrap of paper with the name of the syndrome on it!!!!! Of course I knew by the time we reached home I would have forgotten the exact name so I quickly scrawled it down on a piece of paper leaning up the corridor wall of the hospital on our exit...

Once again I was back to the net - day became night/night became day, I wasn't going to move until I found something. I did find medical research papers which helped me know more about the condition but I needed to find people - people to share this with us - people who truely knew how we were feeling. It was very late in the evening when I finally did - a few beautiful websites and blog pages - the beginning of our journey with some new friends to share it with - Thank You xxx