And the results are.......................

......................... 2 lines of letters, numbers, brackets and full stops!!!!

Yes, we were back at Genetics to get the lab results yesterday.
This was interesting, not just because after 22 years they had actually found something  but because the Genetics department has moved hospital! A hospital is being built in the south of Glasgow, on the site of the present Southern General. At the moment it's half building site, 100% working functioning old hospital and a smattering of departments from the children's hospital which will be rebuilt on this site and is due to open in 3 years. (yeah - like we've heard that one before!!!) Oh, and a maternity unit and the institute of neurosciences /surgery!

I had lost the map with the directions, but i knew which end of the hospital site this new super-dooper lab medicine building was at, so it couldn't be that hard to find - could it???

Now, the present children's hospital is soooo easy to get to for us. Cross the road, get on a bus, sit on it for 40 minutes, get off the bus and walk up the hill. It's a journey i've done so many times over the years!
But with the new hospital, i had to walk to the station, wait for the train, spend 20 minutes on said train, then get out of the station and find where the bus is to the hospital and spend another  10 minutes on the bus and even tho it dropped us off in the hospital grounds, we still had to search for where we were going!!

Any way - we got there and waited. Eventually we saw the geneticist and he started explaining the results. For all there is a string of numbers and letters, the basics are this - Peter has a deletion on the long arm of chromosome 4 and some extra material on the long arm of chromosome 15. The karotype (that long list of letters and numbers) give the more in depth details on exactly where the deletion and the extra material is. 

The report said that it would be useful to have bloods from Matthew and i to find out if it is something Peter has inherited from us or it's de novo (just a random happening)

Given that 6 months ago, we were thinking that nothing would come of these bloods, it seems odd to be getting all this done .

I didn't cry, but i did ask the doctor to let the initial guy who diagnosed Peter with Prader Willi Syndrome know that he was talking a pot of crock!!!! And my message was to make sure he thinks about what he's going to say to parents before he opens his big mouth!

More bloods taken and to my amazement, Peter decides to have one of the funny little episodes he's been having for a while. For a number of years, he's had vacant episodes - they generally don't last long and you can normally bring him out of it by saying his name or asking if he's ok. But for a couple of years  he's been having them and talking away to himself and laughing . We just thought it was "just Peter" until one of his support workers mentioned it a couple of months ago.

I started to describe all of this to the doctor and Lo - he starts on one of these episodes!!!!!!! Man - i've only been tearing my hair out for years over this to be told nobody else sees it, and BINGO - right on cue, it happens!
So we had a discussion about the best person to get a referral for. We're thinking maybe a Psychiatrist who deals with people who have learning disabilities. 

So big deep breath - got to see the GP to try and sort that out.

And send a copy of the report to Unique to see if anyone who has the same or similar Karotype.

And filling out the forms for DECIPHER, which is a world wide database of chromosome abnormalities, so that if anyone else comes near or matches, we can find out more.

Meanwhile - life goes on as normal.
The world hasn't stopped and we haven't fallen off the edge of the universe.

And hopefully, it won't take another 22 years to get more info!!