Tuesday, 9 June 2015

The madness that is my life

...................... and how I survive it!!!

Don't blame me for the title of the blog - I was totally stumped. Knew what I wanted to blog about, but just not what to call it!!!!

Most of you know i'm mad.
I will gladly proclaim my madness in all it's various forms, but for those of you who have read my bogging efforts before, you know there is a reason to my madness.

Mainly my madness (in a mostly nice way, but not always!!) is due to Peter.

So, this week, being Chromosome Disorder Awareness Week, I thought i'd tell you a little bit more about Peter, his chromosomes and the people who share this part of our lives.

We knew from Day 2 that Peter has problems. Well, I say we, I did after spending the evening before crying and  listening to fireworks going off in George Square to celebrate the start of the Year of Culture.

Next day I did say to the midwifes and Matthew, but got the " he's a boy" and "he was a couple of weeks early" "don't worry".

(11 years later, I did go over his notes and found that one of the doctors had concerns, but didn't pass them on. Hell, she didn't even bother to sign the notes, so why on earth would she say anything?!?!?!)

So for the next 6 moths I worried, wondered and tried to get on with life.
We had a follow up appointment at the clinic in June for a couple of minor things, where it was decided to take bloods.
Nobody really explained WHY, just that the bloods should get done.

Fairly quickly we got a  letter asking us to go back to the clinic. I had explained to the doctor that we hadn't been given an appointment to go back to the clinic till October. She looked rather puzzled and worried (which made me worry even more)

Anyway, to the clinic we went.

Most of that day after was a blur. We had been told that Peter had  Prader Willi Syndrome (a few weeks later we found out that was wrong).
We were referred to the Genetics clinic at the children's hospital ando told to just "wait for that".

Loads of things happened in those few weeks.
I found that my GP had been frantically asking the Trainees in the Practice what the knew about PWS.
I found that the Registrar had been using my son for a teaching practice - after the Librarian at the hospital let it slip to a friend (who is a nurse) who went to find out info for us.
We found out that Peter didn't have PWS, but certainly DID have something genetic going on.

And I found a very lovely woman called Edna Knight.
As I type I still remember the tears (because as I type I can barely see the keyboard for them and I'm, trying not to let Peter see me cry as he happily sings along to a don on the laptop)

Edna and some other families got together a few years before and the group they formed went on to become Unique - a support group for families affected by rare chromosome disorders.

I don't remember a lot about that phone conversation - 25 years on, all I do remember Edna telling me was that it wasn't my fault. Whatever was wrong with Peter had happened before I most likely knew I was pregnant. She asked me to write  a little bit about us and Peter and send it for the news letter.

If you really want in depth about life over the next 25 years, look through my other posts, but along the way, we have found loads out about Rare Chromosome Disorders.
Most of them just have a string of letters and numbers.
That's the whole point - so rare, there are not enough people to give them a name!!!

There are lots of differences even between the people who seem to have similar genetic make up. Seizures, delayed development, deafness, autistic traits, eyesight issues...........................
But some people are less affected than others - Peter has global delayed development, am autistic spectrum disorder, his language was delayed, he had hypotonia, dysmorphic features, but on the whole is fairly healthy, and thankfully no great dramas health wise. Apart from having weird reactions to pain - you think something is going to really hurt and hardly flinches (or at most gives a grimace) In fact, you KNOW it's sore, but he doesn't react.

Then someone brushes by him and he's almost shouting at them to STOP IT!!!

I know weird!!!

(but heck , with a mother like me............................. Well, least said about that the better!!!)

We have spent time at Family weekends with Unique families and often, it's not so much the actual disorders you end up talking about - it's the "how did you deal with the first day of school" or "how did you deal with.................?????"

And you laugh because there is the blackest senses of humour out!!!

The comments like "oh, they've fallen - ach, they're still breathing, they're ok!!"

Or like the time Lou and Paul met up with twins - younger than them. Next thing I knew, the dad was over asking me "the girl with the long red hair and her brother - are they yours?" My reaction was "whatever they've done, i'm sorry - i'll go and sort it out"

The dad laughed and said "no - I just wanted to say they are wonderful. My daughter took your daughters hand and they went for a walk. My son got a bit worried, so your son came over and asked if they should go and annoy the girls and chase after them. It was nice to watch and funny at the same time."

That was another "lets get the tears going and cry moment".

That's the whole point of Unique. We start talking about chromosomes and then find we're talking about things that we never thought about.

It's the sharing and support.
The first conference I went to with my friend Fiona - my mum died on the Saturday morning. I was so glad that she was with me, because I would never have managed to get myself home.
But the Unique machine rolled into action, took Fiona with them to reception to make the needed phone calls and someone was with me making sure I was ok. 

Click on the line - it'll take you to our website where you can learn more about Chromososmes.

Me - i'm going off to tweet, retweet and facebook  about the awareness week.

So retweet and share for me.

Thankyou for reading.
And you're all welcome to come and join my mad crazy life!!!