Wednesday, 26 September 2012

I'm sad to say.........

..................... The shoes have left the building and gone elsewhere!!

Donna from Enable - she of the fabulous shoes and high heels has left Enable and gone on to pastures new :-((
No longer will i be able to comment on the latest addition to her shoe wardrobe!

It is a sad day indeed.

I'll just need to go to conferences she'll be at and stalk her so i can report back about those shoes!!!!!!!!!

Ah, well, life goes on - but I'm gonna miss that footwear!!

Thursday, 20 September 2012

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!!

Thursday, 6 September 2012

Back at the haven again.........

............Yes, we were back on Skye again last week! I don't think i realised how tired and stressed i'd been and really needed time to slow down.

We had made a few plans before we went up. Maybe back to Dunvegan Castle. And go round to Staffin.

So off we went on the tuesday morning. Mind you, Peter had the beginnings of an infection in his toe and i don't think the journey on the bus did much good. (we could get to New York quicker than we got to Portree!!!!)
Linda met us and we headed off to pick up the fish and chips she'd ordered and then home.

We were all so hungry that the eating was done before the unpacking!! 

Mind you, when i did unpack, Linda was laughing at what we'd brought up. Half a ton of dishwasher tablets (all of them bought on special offer), food for John and Gerry the cats, coffee (special offer in Costco), 2 bottles of Southern Comfort and the Kimbles chocs. (the partridge and the pear tree are being taken next time!!!)

After having a look at Peter's foot, we decided that he really needed to go to the GP, so that would be organised in the morning.

Wednesday was our "lazy" day. Appointment made for the GP, we stayed in till lunchtime and then went off for our lunch. Then shopping then the doc. Toe infected and some heavy duty antibiotics. Poor Peter - by this time he was limping about and not feeling too good.

Thursday saw us go to Staffin - there is a Charity called Columba 1400, who have a base in the village. They work with youngsters who may be vunerable, leaving care, isolated - and others. They try to help build up confidence and give them ways of coping and getting on with life. The building itself is lovely and welcoming. We had a look around inside and out and then decided to have lunch in the cafe. Gorgeous views out of the windows and even more gorgeous food to eat. And it tasted so much better because all the profits go back into the charity to help more youngsters.

Evings - if you've read my blogs before - are spent chatting at the kitchen table and putting the world to rights. With a liberal dash of something alcoholic and some chocolate. It doesn't get much better. Peter enjoyed Lachie's company and they watched DVDs and fav programmes.

Thursday we went to Dunvegan Castle. I'd always loved the story of the Fairy Flag when i was young. And Skye and Dunvegan seemed so far away from my life in the city. So it was good to go back there again. Flag still there. And Prince Charlie's waistcoat still there. And we still think he was a bit of a soft looking wimp!!! It was only Flora who saved him!!!!

As usual, our time flew past. I wanted to stay, but the thought of the 3 humans and 2 cats pining for us at home made us get on the bus!

As if - pine for us?!?!?! they prob did all the housework in the hour before we got home!

We are going back mid october. So i didn't feel too bad about leaving this time. And as usual, we have more to talk about when we go.

So i feel rested and refreshed. 

Now all i have to do is the last of the financial management plan and send it off.
And pin Lou down to a day she is off so that the Social Worker can   visit. Not as easy as you'd think - Lou has a crazy rota, so after finishing her night shift tomorrow, she's off for a week. But the SW is duty worker next week, so can't really go out much. Then Lou has 2 weeks induction into life that is PICU. (basically you don't have much of a life for 5 weeks out of 6, then you sleep for 6 days and it's time to go back to work!!!) We're thinking the 3rd of october. Yes, nearly a month away.

Trouble is, i'm not sure if it's october 2012, or 2013 we'll be having this meeting!!

Off to our own GP in the morning to get the toe checked. Think more antibiotics will be needed and maybe a referral to get the toenail sorted.