Happy Birthday NHS

It's 70 years since the inception of our NHS. 

As someone who has always been used to having free at the point of access health care, it could have been easy to just take it for granted. 

But born in the early 60's, to parents and grandparents to were used to a totally different way of medical care, it was a kind of unspoken rule that you didn't waste this new method of care.

 They had been used to times of maybe not having the money for the doctor, so any time of illness, you really had to think hard about if you should call the doctor out.

A kind of respect for the system. 

I didn't realise the significance of the date of our wedding at the time, but Matthew and I set our date - 5th of July 1985. We just wanted a good day, with our families and friends and we would sail off into married life and all would be happily ever after.

Ah, so young. So naïve.  So sweet really when I look back!

So here am I, sitting at the pc 33 years on and looking back on the impact our NHS has had on our lives.

Very quickly, we began our journey into our medical care system.

Matthew developed Epilepsy, which, for a number of years meant hospital visits, GP visits, trying out drugs, combos of drugs...……. until, it was decided that neurosurgery was part of the solution.

As scary times go, having your hubbie going under the knife and you have a 9 month old child, well, it was a scary time. 

With a few tweeks over the next few years, things are no fine. But thanks to our Institute of Neurological Science, things are fine now.

Me - well, I gave the NHS a good run for its money. 

Endometriosis - and the "you may have some issues" talk about babies. 

Thankfully. my body doesn't listen at times.

 2 babies.

 The a recurrence.

Then another baby.

Till I got so fed up with the pain I asked the Consultant to just get rid of those bits that I didn't need any more.

BTW - the deliveries of said babies was not easy - did I  tell you my body doesn't listen?

Well, that meant 3 c sections, some crazy bit, where I was told the surgeon had his foot almost on the table trying to pull my chilled baby out. Not saying who it was, but youngest children...……………..!!!

And my children have had a fair share of treatment from NHS Doctors, nurses, ST, Physio, OT, Genetics teams...………… We have quite a mix in there .

I shudder to think what all this would have cost if we'd had to pay. 

Things I can do - well, one is self refer to our genetics team to get an appointment to see them. 

And they are only a few miles away.

I've heard of people in other countries being told  no - no genetic appointments. And anyway, the nearest team is maybe hundreds of miles away.

I've had appointments where I've argued the toss with an eminent Professor of Paediatric Neurology and didn't I just shock him when I spoke back.

I've argued with a geneticist and told him if he couldn't work out what was wrong with my son, told him to send me to someone who might have a clue  .   (in fairness, I don't think he really knew how worried we were and how much it impacted on our life)

I've had to explain  to a nurse in A+E that my daughter is NOT having a panic attack, but it's her asthma (and try yo make sure here boyfriend sitting beside me in the waiting room didn't go into a hypo due to diabetes.

I've asked anaesthetists to look after my boys as they went for surgery and Speech therapists to help my boys with various issues round their speech.

I've cried at times, had to explain to my GP that i'm not really an alkie  , I just have a screwed sense of humour.

I've take great pleasure in watching a GP open the bag we've brought back from Disney as a thank you for writing the letter for our pass - small price to pay for something they didn't need to do (and i'm sure THAT wasn't on the remit 70 years ago!!!)

So thank you to all the front AND back line staff in the NHS. We need you, we should cherish you 

and here's to another 70 years.

Have Yourself A Merry Little Christmas - Nicholas Wells

So, here we are again at  almost the end of another year.

It's not been too bad for us, apart from social work rattling the cage and giving me a near heart attack over money and budgets. But that got sorted out.



Lesson is - don't rattle a cage at me - I can rattle back just as hard, loud and long!!!



But some friends have had a rough year, so they are in my thoughts and i'm sending you good wishes.



I love this song (and the singer!!) Several years ago, the staff choir at St Ambrose sang it, very well.



So take that shining star, hang it high, where you can see it - even in the darkest times. And i'll be there - even if it's just with a cup of tea for you!!

Being a carer............

.......... Can be lonely at times.



On the outside, we can look happy and in control. But in reality, we're a bit like ducks - all calm above the water, but feet going like fury in the water to try and keep going!!!



Thing us, not everybody under what it's like being a carer.

Actually, I don't think people really understand until a caring role lands in their life and things change.



Sometimes, you really just need someone to chat with, who "gets" that you are fed up and stressed. That you need to have a good moan about things, without being judged and people get your warped sense of humour, because they too can have a similar warped sense of humour!!!



But the thing is, we are always so busy, it's hard to get together with other carers. It can be a hassle and often you can think of 101 things you need to do.

So it's a bit of a vicious circle.



A number of years ago, a friend dragged me along to a carers support group.

At last, people to talk to.

And for a few years, it was good, getting the support, people to talk to. But things change and I was finding myself coming home more stressed than I had been before. Going along had become a habit and it just wasn't doing it for me.



So I then got involved with a FB carers group.

They are a crazy bunch mainly, I know some of them in real life and others in cyberspace. We can moan at each other, support and generally just try to make sure that we don't get .that lonely feeling too often.



But i was finding that i really wanted some human company. One of the girls suggested I go along to another carers group. I was a bit, thanks, but no thanks. Been there, done that and I don't want to be stressed again.



But I found myself needing to chat to someone about stuff for Peter .



So I went along to the carers cafe.

I even found I knew a couple of people!!!



I'd forgotten how god it was to sit and chat, with a cuppa and maybe a nibble or two.

And it was worth the effort of getting myself out of the house for a bit.



A couple of weeks ago, the MP came along to have a chat with us. He wanted to find out what concerns we had and maybe help out if he could.

Going round the room, those who spoke all had something to tell. No matter who the person cares for, no one has an easy time and often a take would be told and we'd laugh, or say "That's not fair/right". Or others would tell of their experiences on a certain topic.

But the the comment that stopped me in my tracks was a comment from Rosemary. She had been to the GP recently and he asked how she was. Ach, alright she said. So the GP proved a bit deeper and she kind of admitted (as most of us carers do!!) that things were hard and she was feeling it.

The GP said "you know Rosemary, even Jesus had 12 friends to help him!

A lot of us carers just get on with it, because we think it's easier to just get on with it.



So it can be a vicious circle of being lonely, then just not being able to get out of it, because you're doing so much for the person you care for and it's a hassle to get out on your own for me time.



But it's been good the past while getting to know these carers. It's nice when someone asks how you are and doesn't matter if you grumble a bit, because you know that maybe in a week or two, you'll be that listening ear.



So, this time, I'm giving you a are treat.

I've just found out about Nicholas Wells from a fellow carer. This song kind of sums up, for me anyway, how carers support each other. You don't need to be there ALL the time, now and then can be good.



Oh, and the man likes cats. We KNOW  cats suss out the good people. His cats have told our cats he's a good guy!!

But I suspect that they just want some cat treats!!!

Soaring, tumbling, freewheeling through the Circle of Life

Peter and I have been very lucky in the past 9 months to have seen both The Lion King and Aladdin in the theatre in London. 
Peter loves music and if it's Disney even better. Well, he's a Disney geek who loves a Princess, so who am I to deprive him of what he likes.

There are a lot of "autism friendly" events these days, which is fantastic - families don't feel so pushed out of doing family things and they can get out to the cinema or the theatre and not worry about being judged.

But our autism journey began a LONG time before cinemas and theatres (and even shops these days) did this kind of thing - lights up, bringing your own juice and sweets and so on.

Plus the fact I have 2 other neurotypical children who needed days out and needed mum and dad to do things with them.

(Please don't kick me down and say that Peter must be more able than your child. We all have to do what we think is right for our children and it's a hard road we all walk)

I do believe that much as Peter has an ASD , a rare chromo abnormality and learning disabilities, he has to live in what is really a mainstream world. And that world can be nasty at times, to people they don't understand. So it's nice to know that we . as parents, can choose to opt into a friendly screening of a film, or afternoon at the theatre.

But it's also nice when we decide as a family to go down a more mainstream route and have staff who go all out to help us. 

As a family, we can make a bubble round Peter, to help him feel safe.

Yes, we do have the tantrums and the meltdowns as well!! I remember well one Sunday  going off to New Lanark for the day and he has a face like fizz on him, because HE didn't want to go. Didn't matter what the rest of us wanted to do. He wanted to stay at home.

So it was deal with the fizzy face (by saying you know what, tough. We're a family and we want to do things , like together!!) or go home and have  2 more fizzy face to deal with.

For those of you who have never met my children, you do NOT want to deal with fizzy faces. It's not nice , as the Genie says and there may be blood.

So, like Aladdin on - the magic carpet - says to Jasmine "Do you trust me?", we had to take Peter by the hand and ask him to trust us to take him on the magic carpet and see how things went.

There are times we've soared, times we've tumbled and times we freewheel it, making it up as we go along. Oh, and add in juggling apples, jumping through hoops and keeping plates spinning, you can imagine that at best, it was an adventure, at worst...................... oh, just don't even go there - you don't want the tears and the hassles.

Peter copes fairly well with doing mainstream things, but i'm sure that's because we didn't have the option of any other way and the need  (and want) to go out as a family. 

Paul says he loved it at concerts he was doing, seeing Peter jigging about in his seat, enjoying the music. I think he did once get a "huh" from someone in band, but he just told them that if someone enjoyed the music, so what.

So, we often borrow that magic carpet and go on adventures.

Sometimes it's brilliant.

Sometimes it's ok.

And sometimes it just doesn't work out, but heck, that's life.

As I sat in the Gods at the matinee of Aladdin on the 17th of June, we sat and sang I Can Show you a world. 

But in truth, I think Peter and  Louise + Paul have shown us a world where life might throw up issues, but we work on it.

And as they say in Lion King - never take more than you give.

Life is there to be lived, even if you have to take it at a slightly slower pace!!! 

Ohana - some very special people

It's that time of year again.
Rare Chromosome Awareness week, where, by now, you all know, I facebook, twitter, share all sorts of info and facts to help you understand our life with Peter.
And the blog. You have to do a blog. 
Well, I don't need to, but I want to.

Every story in Unique is, well, unique.

I'm sure most of you know a bit about Peter. He has develops delays, an asd, learning disabilities and *something* genetic going on in the mix.
We've just not managed to quite pin down what that something is. The latest bloods, taken about 4  or 5 years ago seem to have been, well, not quite a red herring, but threw up more questions than answers.

But never fear, our new Geneticist has a few ideas. We just need to wait for more bloods to be done and sent off.

We have been involved with Unique for 27  years. 
The support we've had is brilliant. I'm not made to feel I don't fit in because we don't have an official diagnosis. There are others who have been in the same situation as us who get a diagnosis when their child is an adult, so I live in hope.

(Mind you, someone, not on the Unique fb page, but another carers group did question WHY  we were in the group. After all, she said, how can you possibly get matched up with other families. I pointed out that, yes I knew about SWAN - syndromes without a name - but back in those pre internet days, they didn't seem to have the support to give and even though I got in touch, they didn't seem so organised. So we stuck with Unique and have learned so much)

To be honest, this person has been the only negative person and even though she may have thought she was being helpful, it was a bit hurtful. I began to think we weren't as valued but other union families told me to behave. I was Part of the group and most of them wanted us to stay.
I will also say, that on line,both can't always know what someone is really meaning, cos you can't hear their tune of voice.
So note to us all, be kind.

So that brings us to Ohana.
Anyone who has watched Lilo and Stitch will know about Ohana.
Ohana means family.
And family means no one gets left behind or forgotten.
It does not need to be blood family. It can be like Unique, a group of people who are together to support each other.
New members start off asking questions, wondering if life will ever be the same again. (Often that's a no. But it'll be different)
Them you get to know other members. They could stay near you, so you have that connection.
Or their child, young person, adult has some things similar to your child.
Or you find that you have a similar way of coping with things, the same black sense of humour, so you chat more.
Then you find that it's not just you unique child you talk about, but the rest of your family.
Some of the people in the group have helped me when my parents were ill and then died. 
Sometimes, we plan to run off to an island, with supplies, but the realise that our offspring and spouses would get to the island before us and form a welcoming committee!!
Bang goes THAT quiet weekend!!
The support and friendship is what we really need.
Sue, one of the mum's I have met, asks just how Cargill go to meet someone for a cuppa.
Well, Aberdeen to meet her and Sophie, but we nearly met a family at Disney in Paris.(didn't quite work out, they were travelling to the park from the airport as we were travelling to the airport!!)

So it really is ohana. 
Support, friendships and a cuppa.
It's always good

Elections, voting and living in the Dear Green Place.

As I walked home from the polling station today, I saw one of the things l love about Glasgow.
It's the trees and the knowing that there is plenty of green space in this city for the people to look at, walk in, kids to play in..................
There is a good reason the  name Glasgow  means Dear Green Place!!

Over the past 2 1/2 years, I've seen this view more than usual - because  we've been to the polls more times than usual.

Independence Referendum.
General Election.
Scottish Election.
Referendum on Europe.

Today was council elections and in 4 weeks, ANOTHER  general election.

(has no one told our elected members about voter fatigue?!?!?!)

The  general election was kinda sprung on us by Cruella,  oops, sorry Theresa May.

She says she wants a strong government.
I've lost count of the number of times I've hear those words lately and it isn't really cutting the tomato sauce in my life.

Not when there have been so many cuts to social care, cuts (in real terms) to benefits, people being turned down for PIP, who are ill, unable to walk far - even tho they would love to be able to walk and work and not be dependant on the welfare sate for money.

I was wanting to really have a go at anyone who turned up at my door looking for the promise of my vote.
I wanted to know WHAT they were doing to help the most vulnerable in our society, the people we really should be looking after.
And what about the people who care for them?

I saw this morning that unpaid carers save the government £15.1 million each hour. How true this is, i'm not sure, but given that we get £62.60 or thereabouts for more than 35 hours of caring.................. Go figure out just WHY i'm so mad.

I don't want a pat on the should, I don't want to be told I'm "doing a good job".

I want to be trusted to use my Son's SDS budget the right way.
Not live in fear that (as has happened to others) I will be told i'm not doing things right and as a carer, I am not allowed to go on some of the short breaks with Peter.

(think about this. Much as the workers would LOVE to go to Disney, the time away would take something 106 hours, roughly of his support. Given that he gets 15 hours support a week, how many weeks would we have to go without support to cover this break. Can any councillor , msp or mp riddle that one for me???)

Or being told that we're not allowed to choose who WE want to support our young adult.
Or being told that we just don't get it, so, heck, the council will just do it all for us.

Meanwhile, the person getting the support is wondering just what's going on.

All my son really wants to do is go swimming, to art class or walking group. To go to Karaoke and stun one of the support workers who didn't realise he could belt out the Proclaimers or Dolly Parton with such gusto.

All he wants to do is go on a break, sometimes with Mum - take her on Big Thunder Mountain and hear her scream, or go off to respite to get away from me at times.

But did anyone come to my door to hear my rant?
In a word NO.

Now, I appreciate my reputation and soap box may go before me  , but seriously ......No one. Nobody. Zilch, nada, almost nothing. One letter from the SNP, address to my hubbie.

Excuse me, but there are more people than him who vote in this house.

I got to the polling station this morning.

The 2 guys out handing leaflets really got wellie from me.

I did take my soap box (left the high horse at home!!)

Paul appeared to vote as well and he started laughing - told them that they'd better listen, because I may be a small wummin, but I have a voice and I use it when I get annoyed.

Thankfully, another woman came along and said that SHE hadn't had either leaflet through the door or anyone knocking, so I felt better about that, knowing it just wasn't me.

The SNP guy has got my details and concerns that he is passing on to their candidate for Westminster..

Yes, I did go and vote.
Because even in the 21st century, there are people in this world who do not have that  right.

The right to go and put their mark against who they want.
OR, to spoil a ballot paper in protest, safe in the knowledge that "authority" will come after tham for not doing what THEY consider the right thing to do.

I may be getting fatigued with all the faffing about and having to walk to a polling station.

(oh, jings, what a 21st century, 1st world problem. Having to WALK about 1/3 of a mile to go and cast my vote)

Then I remember 2 things - 1, if I don't cast my vote, I have no right to complain about the out come and 2, people fought long and hard to get the vote for future generations and that fight and struggle is still going on even now in parts of this planet we call home

Who stole half this year???

......... And can they give it back to me please. I feel as if most of this year has gone by in a blur.

It's been not too bad, weddings, graduations, engagement parties and a few weekends away.

Oh and trainee ninja duties!! Christopher comes along to annoy the cats, trash the living room, get a taste of rosti and then whirls back out, leaving gran clutching the gin bottle!!!!

In between all the goings on, we met our new Geneticist, who explained more about Peter's last lot of results and just why they don't seem to be the cause of his problems. It's now when, not if a new blood test is available to help us get to the bottom of it all.

Peter has enjoyed not only his respite, but the weekends that we've been away.
Disney was brilliant, as usual.
Lion King - we want to go back.
And Harry Potter, just brilliant .

Just need to keep convincing the powers that be the money is well spent and gives us both a break.

Mind you, I may be banned from going away. David Bowie died when we were in Disney and Fidel Castro popped his clogs when we were in London.
Mmmm. It wasn't me, honest!!

The tree is up, the presents are wrapped and the freezer is full of food, so we're sorted.

Have a good Christmas and a peaceful new year.

It's that Ohana thing.........

As you all know, we love Disney and Peter enjoys the films.
Ok, I enjoy the films as well!!!
One of our favourites is Lilo &Stitch.
We've talked before about Ohana and it being about family and no one getting left behind , or forgotten.

Recently, we've had two different lots of Ohana, showing both times that Ohana doesn't always need to be blood family and this family you have around you can help support you, keep your spirits up, help you and well, basically be there for you in good AND bad times.

Our first lot of Ohana was at Paul's Graduation.
There were various degrees being conferred that day, but the class we really wanted to cheer was the BMus (Hons) class.
Paul joined the class in 2 nd year and quickly got involved in class activities. Rehearsing on his own and with others to produce music, singing and just enjoying the experience.
It was hard at times. Early morning travelling to Edinburgh, evenings spent travelling back to Glasgow, either sleeping or doing some reading. During the winter months, he barely saw daylight!!

But the class supported each other, helped out at earth others recitals, encouraging each other and making themselves into a family.
It was a brilliant day.

Or 2 nd lot of Ohana was a couple of weeks ago.
We had arranged to meet up with a family we know from Unique. We have been chatting/messaging each other on FB and we decided to meet up in Edinburgh when Jenny, Steve , Emma and Jenny's parents were up for the Festival.
So we were up early. Nay, almost the middle of the night so we could get to Edinburgh on time. As usual, our journey was interesting!!
 An older woman got on the bus about half way to Edinburgh. She was having a wee bit of trouble sorting her things, so I asked if she wanted a bit of help. Oh, she says, could you, that would be good.
So she got settled and on we went.

This lady wanted to get off in Princes Street, so again, I asked if she wanted a bit of help.
We got her sorted and went o to find the bus stop she needed to get the next bus. As we looked, the bus went running by!!
She was so apologetic, she didn't want us to be late for our friends, but we got her to the right bus stop before we went on our way.

We met Jenny and her family where we'd arranged and headed off to get food.

It was great meeting them in real life and chatting and munching and swapping stories and photos of our cats!!!

Again, Ohana. Family, caring, supporting, having a giggle. It was a brilliant morning

Scary Places

I don't usually blog twice in awareness week, but this time I will.

I am also going to assume that most of you know the back story, or at least the bare bones of it, or have picked details up along the way.

For me, the time around Peter's diagnosis was one of the scariest, loneliest places I have ever been in.

I had just about convinced myself (by June 1990), that there was nothing really wrong with Peter, I was just a neurotic, tired mum who was looking for excuses.

(My gut was telling me otherwise, but i didn't listen I chose selective deafness so as not to hear the howling that was going on)

So we were going back for routine appointment at the hospital. They had told us of one thing they had picked up when Peter was born, so they would follow it through, rather than get our GP to do it.
At the appointment, the Consultant was looking at Peter's ears and his hands and talking about them.

Mmmm, what medical school, i thought , did you go to - you are meant to be looking at the bits between his legs!!
So, it was decided that bloods needed to be taken, so off we went to get them done.

Walked into the neo natal, introduced ourselves to the doctor, who didn't have a clue WHY we were there.
So she said to another doctor, who replied "oh, yeah, i know about them, but I'VE got to do a patient transfer to sick kids.

Oh cheers pal, i know you're busy, but did you not think to give someone else the heads up about us???

(this is the point where i remembered this guy being on the ward when we were in, another mum was worried about her baby, he was called in, wasn't happy about it and then muttered "first time mothers" as he walked out of the ward)

I think it is Mya Angelou who said "People may not remember your name, but they will always remember how you made them feel. I will add to that and say if you remember they way the made you feel AND their name , things are either VERY bad, or  VERY good.

The nice doctor asked me when we were coming back to clinic. I told her i didn't have a clue, but we were due to have a check up with our GP in the next couple of weeks.
So she said that she'd get the results to the GP

By Saturday morning, we had a letter asking us to come in on the Tuesday to discuss the results (all these years later, i wonder how they got them back so quickly).
Typical. get the letter on a day you can't get in touch to ask.

So, my mum and brother came over to look after Louise, we went to the clinic.
The doctor was over an hour late getting there , so we sat and waited our turn.

When we went in, he told us Peter had Prader Willi Syndrome and rather gleefully (i felt) told us this was the first child he had diagnosed this year and the youngest he's ever diagnosed.

Oh - forgot to say - you know Dr "don't hassle me, i'm doing a transfer"?

Yup, you got it. It was him.

So, i began that scary lonely journey.

We got home (how, to this day, i do not know)
My mum's reaction was to tell me that Matthew had had a shock, and i was to go and make him a cup of tea!!

Of COURSE, i hadn't had a shock - i just knew i was the person who would be dealing with it!!!

(many years later, i found out that my mum had said she would take Peter and look after him. Thankfully, Matthew had the good sense to say , umm - NO)

SO, then a blur - going to the GP, the one who did the baby clinic was on holiday, but, i was told, she had got the results just before she went off - and had to ask the trainees what they knew about PWS.

I felt soooo bad that she and her family were on holiday and i had ruined it for her .
It was worse that her Husband was a GP in our practice as well.

(this is the point where i say that if i ever win big on the lottery, i owe them big time in the holiday stakes)

Waiting for the genetics/neuro appointment, we were having to tell friends and family.
And get backlash from both mums that it was obviously the other family whot had done it.

Mmm - at least they didn't deny the existence of chromosomes in the family, but it was a close run thing.

Three days before our appointment, I was in a car crash with my dad and Louise.

This just got better and better.

So when we went to the hospital, my brain was gone. Along with my sanity and i really didn't want to be there.

It didn't help that the neurologist straddled that line between genius and madness.
Nay, he merrily wandered over that line several times in an appointment, much to my sorrow, because you could never get him to give you a straight reply

SO, there was me, on that lonely horrible journey (yes, Matthew was as well, but we were both so worried we didn't realise it)

They told us that no way could Peter have PWS.
Mind you, that was one thing that Doctor Mad Genius did explain to us, but i can't really remember what his explanation was. I do remember something about if he did have it, he wouldn't have lived.

(oh, yeah - make us feel good pal. Look, i know you're a mad genius, but give us a break and get someone to translate this into non medical jargon, so i might just begin to understand)

So, even the experts didn't have a clue, so shoved along that lonely scary path a little bit more.

When we got back  to my Mum and Dad's, we started to tell them that Peter didn't have PWS, but my mum cut me off before i could say any more and say "oh, great, he's fine, nothing wrong with him. Can you go and phone out GP, you dad isn't well and i think it's after effects from the crash"

How i made that phone call and didn't break down, i have no clue. I was trying to tell my mother that one of her grandchildren was going to need a lot of support as well as us , but she chose not to hear that.
(even now as i type, ....... my face is wet)

But somewhere in that lonely scary time, i got Edna's phone number.
My memories of that conversation we me trying not to cry and her telling me that i didn't do anything wrong, it wasn't my  or Matthew's fault and that we would eventually find things out.

Those were some of the most comforting words i ever heard.

Slowly, we got to know other Unique families.
Our children/young adults/grown ups may all have a different diagnosis.
But one thing we do very well is support each other.
And we try to raise awareness about Unique.

We got to meet some of the families at Conferences and over the years have made some VERY good friends.
They start out as people wanting to know about the chromos issues and somewhere along the line, some of them turn into friends who
a) get you Murray Gold's autograph for your youngest son who loves music and Dr Who. If you don't know who MG is, you're a heathen!!!!

(alright, it'll tell you - he writes the music for all the new Dr Who shows)

And

b) They tell me to get my big girl pants on and deal with things if i get stroppy!!!

 Now, when it comes to support, i really don't think you can get much better than that.

I'm not going to name names (well, apart from Jenny, Steve, Emma and Sam and muchos thankos for the autograph - i doubt my body could have coped with a Time Vortex Manipulator to get me to the Albert Hall that day!!)

The other names - well, i have mentioned them before and have done so this week already. Most of them would say that they were doing for me what i would do for others - being that supportive person there, ready to help.

Now, what Edna  and we didn't know was that it would take over 20 years to actually  get to a point where the get something like a genetic diagnosis. Even tho Peter had a lot of markers, it's only in the past few years that the techie stuff has caught up.
But in those years, i have thrown curved balls, asked questions and always had some info back - even if it was "you know, we hadn't thought about that ".

So another (more personal) take on Chromosome Awareness

Awareness, fun and support

By now, most of you will have had at least one tweet or FB message from me about Rare Chromosome Awareness Week.

Those who haven't, well, here's your chance to find out more !!

As you know, Peter has a rare chromo disorder.

It took many, many years  to find out where the problem was and many arguments, tantrums, tears to get us to that point.

July 1990 was when we first found out that Peter had "something" genetic going on. (it wasn't till many years later I found out these things had been noticed at Peter's first check, but we were never told)

The initial diagnosis was chucked in the fuckit bucket early on, but my correspondence (yes, this was the pre dark ages when t'internet didn't exist and FB and twitter didn't FB or tweet!!) - lead me to a lady called Edna Knight and a group called Unique

I remember the phone call to Edna well.

Me upset, her listening.

She said to me " Julie, whatever has happened with Peter, it's NOT your fault".

She explained that most times, things just happen and we have absolutely no control over them.

And so began a journey of learning about chromosomes, getting to know  people and getting (and hopefully learning to give) support to others.

I won't bore with all the details of our journey - but we've had conferences with our Unique Family, where I saw how much we were cared for and how much other families appreciated the care we gave.

One or two vivid memories - of meeting my friend Sue for the first time.

We had been e - mailing and were meeting up at the conference. I went round to her room to say hi, to find that she'd had a bit of a rough journey down.

So what does a girl do???

Tell her pal to sit down while she puts on the kettle and askes if she wants tea or coffee!!!!

Sue reckoned my bossiness was just what was needed at that time and our standing joke is "just how far will we go to meet up with People for e hot drink!!!"

Another memory was one evening sitting in the bar. We'd had a bite to eat and Lou and Paul went to reception to see what was going on. A family were there and Lou started to talk to the little girl (she was the one who had the chromo issues). The girl took Lou's hand and obviously wanted to go for a walk. Meanwhile, her brother was a bit worried about this - so Paul said "hey pal,we can't let those girls go off without us annoying them - come on let's do it".

The dad came into the bar and sat down with me - he asked if the red headed  girl and her brother were mine. I automatically started to apologise, thinking something had happened. He laughed and said no and told me what had gone on. He thought it was great that a couple of older kids had been so kind to his children

So - Unique, well. what do they actually do?

They have a database of genetic abnormalities that they can reference.

They put families in touch with each other for support.

They have written info leaflets on the more common rare disorders.

They help with genetic research - helping find people they know who may want to be part of the research.

And, with the help of some funding, they organise conferences and family days.

We had one this weekend in Glasgow.

Just getting together, chatting to people, making new friends, catching up with old ones and a bit of food in between.

And we find that while there are vast differences in our children's problems, they are actually more alike than we realise.

We also compare notes on our holidays - our specialty is Disney!!

And these are two of n my fav pics from our holiday in January - opening the park with our new friend Sienna

So now, what i'm asking ,would you care to pop by our website

    www.rarechromo.org

Join us on tweet

   @unique_charity

or pop over to our FB page

   Unique - Rare Chromosome Disorder Support Group.

We'd love to meet you.

And please - pass the message on!

Magic Wands, Light Sabres and a Wedding!!!!

So, the day eventually arrived.
After 2 1/2 years of planning, deciding, tears, tantrums and tiaras, we got there.

Yes, The Wedding Day.

So, we all arrived at the hotel on the Friday afternoon, Luggage, Bridesmaid dresses, my outfit, suits for my boys and most likely there was a kitchen sink in there somewhere!!!

The location was the Golden Jubilee Conference Centre and Hotel. It's attached to one of the hospitals here in Glasgow. Just on the outskirts and overlooking the river.

At this point, I really should post a photo, but I don't have the one of the view from our window.
But believe me - it was lovely, and you would have been hard pushed to know that just a few yards away was a busy NHS Hospital and a few miles along the road, a busy city getting ready for a warm summer evening.

After getting our stuff into the room, we went off for dinner - on a boat, moored on a canal.
We like the unusual!!!
Fish and chips, then back to the hotel for a couple of pre wedding drinks.

And this is where I realise that I DO have the view from the window on the PC.

(ok, I never said that tech stuff was my forte!!!!!)

Not too bad a view!!!

Saturday morning brought the promise of a lovely day.

Yay, sunshine, heat, wedding - what else could we want???

(Winning numbers of that night's lottery!!!!)

Shower and breakfast early.

There was a Conference on at the hotel that weekend, so some of the folk were in the lift with us.

By the time they got to breakfast, I think they were almost wanting tot be at the wedding and forget the conference!!

And I even got a couple of hugs from people!!

This Mother of the Bride was letting people know that we had arrived and were going to party.

Party HARD and enjoy!!!!

So hair and make up to get done, get into posh frock and shoes.

I forgot to put out Peter's new socks and things, so he nearly ended up with tatty socks on! Luckily, Paul had a spare new pair.

But the new belt was still in the room where I left it the night before!!!

Photographer arrived - loads of pics done, but was a tad worried when we told him that the wedding dress wasn't there!!!

Don't worry, quick call to Ann Marie, she was just picking her mum up and was on the way.

(look on the photographers face said worry - we just threw him out to go and take other pics!!)

I did runner for a few things - taking things to people to pass on to others and checking where Matthew was - by this time AM had arrived and Auntie Eileen was checking over the speech!!

Yup - running around a hotel in a posh frock, make up on and in my stocking soles.

In my defence m'lud, I knew it was a long day, so I was staying comfy!!!

Now, this is where the Light Sabre comes in.

Remember I wanted a wand to zap pesky guests into frogs???

Well, I was told I wasn't getting one.

So I suggested a Light Sabre.

Ok, says Louise - get one. (thinking I wouldn't!!)

So it was produced!!!

He, he he - I was having fun.

Bridesmaids and flower girl sorted, AM and I went to get Louise dressed.

The dress was gorgeous.

But we knew it would be!!

I got to the ceremony room and was a bit overwhelmed by all the people.

But, as usual, it was my Aunt Eileen who made me laugh

Why, she asked was I crying - it had taken me long enough to get rid of the girl!!!!!

Say what you mean!!

We scrub up not too bad.
More photos after the ceremony.

And my friend May had a present for me.

I GOT MY WAND!!!!!!!

Now, I was going have really good fun and do lots of zapping!!

I recruited 2 youngsters -  sorry, partners in crime for the rest of the day.

Jamie was on Light Sabre duties, Felicity on wand duties.
Jamie had a great time annoying Paul, they chased each other and generally had fun.

Felicity just wandered of, waving my wand.

Love having youngsters I can corrupt and lead astray.

Chaos, panic disorder - my work was done!!!

Speeches over, meal eaten and time to party

We really don't look as if we're enjoying it, do we????

The last photo is of Abby, one of the flower girls and Felicity - having a break from wand duties!!

It was a magical and special day.

And the conference goers - they kept telling us that we looked as if we were enjoying ourselves and one or 2 said that I looked brill in my outfit!

But it all went sooooo fast, I can't wait to see all the official pics and the DVD

So, i'm looking forward to the next wedding.

(what ARE you talking about I hear you say!!)

Paul and Emma got engaged about 10 days after , so we have another wedding in the pipeline!!!

Mmmmm - wondering if I can get a full size Light Sabre for that one..............................

A night at the movies

..................... No - more like a night on the tiles!!!

The time had come - it was Louise's Hen Night last Friday.

I had prepared well - bought Minnie Ears to wear (as well as 2 other pairs - worn by my friend May and Emma - Paul's girl friend) 
AND - the white Minnie ears, complete with veil.
To top it all off, Ariel's bouquet !!! 
IT HAD THE BRIDESMAIDS COLOUR IN IT!!
So now she says she may cancel her official bouquet and use that one!!!

(not bad for a 3 euro sale item in one of the shops in the Disney Village!!!)


Plans for the evening ..........

Some of us were meeting on the train, picking up the stragglers, oops, sorry, the Bride at the next station. Meanwhile, Emma and i put on the minnie ears, explaining to 2 little girls what we were doing that night and brought out the special ones. 

Of COURSE we made her wear them on the train!!!

The station in town is getting a lot of work done to it, so once we got to the top of the stairs, a nice lady gave us a creme egg each!!!

Well, after she laughed at the cluster of Minnies that passed her!!!!

So off to meet some others at the pub before getting on to the bonkers Bus .

Mind you, the pub was so busy, but we were a mere matter of a few feet away from a stag party. Needless to say, the stag's pals wanted photos with the hen!!!


I will say nothing of Emma keeling over backwards (and that was before any drink was consumed ) or about the Woo Woo Louise had in a drinks bottle.
Actually, least said about either the better!!!

So, off on the Bonkers Bus,
Loads of music.
Poles to Dance round!!
With the lack of tables to dance on/fall off, i did partake of a shimmy round a pole. 
No photos were taken - i think my beloved daughter was just a bit shocked at her auld, decrepit mother doing it!!!!

My friend May on the other hand, fell about laughing, as only and old friend can!!! 

Eventually, we arrived at the Normandy Hotel for out Night at the Movies tribute night.
Charlene met us there. She had already sneeked into the place we were having dinner to put goodie bags at our places and cupcakes with little rude things on the,

(this is a family show - i'll leave it to your imagination!!)

(Oh, and a lovely cake, the shape of which i will also leave to your imagination. But heck, 20 women on a Hen Do!!!!!)

It was a giggle looking in the bags and chatting. Catching up with some folk i knew while enjoying dinner.

The DJ and tribute band were ok - heard worse and we all got up to dance - after a fashion. Ann Marie is good at just telling you to get up!!!

But best part of the night - or at least one of them, was when the Bridesmaids were going to the  Loo.

Ann Marie followed them, tape measure in hand to get all the details to start their dresses!!!!

Well - she had them all there - captive audience, so she may as well get it done!!!

We had planned to stay till 2 am, but by midnight, May and i knew we wouldn't (and we'd listened to the DJ's rave music - trancey stuff that nearly did send us into a trance!!) May phone her taxi driver friend and asked if he could be ther at one.

Even Louise decided it was time to go!!

May made sure Emma and i got home OK.

Claire ,Lou's friend on the other hand had a more difficult job getting Lou home!!!
 He, he , he - Louise HAD picked up keys.

Just NOT the keys she needed to get into the house!!!!

Not wanting to waken the baby up by phoning, she went back to Andrew's mum's house to stay the night!!! 


Mmmmmm - i think that one might find it's way into a speech on the big day!!!

Mind you,it took my knees till Sunday evening to recover and the rest of my body till today. 

It was that shimmy round the pole what did it!!

It couldn't possibly be the Southern comfort !!!!

Two out of three ain't bad!!!

It's a while since I last posted.
Life has a habit of getting in the way!!!!

So, what we've been up to................

Peter and I were in Disney last month for a few days. Couple of iffy moments, which we'll gloss over!!!
But we had loads of brilliant moments.
Two of the biggies were helping to cut the ribbon to open the Park on the Sunday morning!! We were waiting for the park to open and chatting with a little girl and her mum. The cast Member came over and asked if Peter and Sienna would like to open the park.
Would they?????
Mmmm, is the sky blue?
Do I enjoy a prawn curry????

Of COURSE they would!!!
And if they don't, us mums will!!!!!!

It was nice to watch them cutting the ribbon and a big fuss was made of Peter and Sienna.

The other biggie was on the Monday morning. 
We had some time in the park before we headed to the airport.
So we went off to find a Princess.
We got our time to go to the Princess Pavilion and waited.
We had noticed Cinderella sneaking in.
I had to explain to him that we might not see Cinders.
So we waited.
Then our time came............

And today, Peter, you get to meet..............

Cinderella!!!!!!

So, I had one very happy boy, who met his favourite princess, and yes, he stole a kiss!!!!

Our time in Disney was great. We got to meet the Mad Hatter and make funny faces.
And we met Tigger at Dinner. We think he may have been Scottish, because when we were talking, he pointed to us, did a bit of a highland fling and did a thumbs up!!!!

We got home late Monday evening and were shattered.
But very happy!!

Plans for the wedding are well in hand.
Today was suit buying time for the men in our family.
Now, this may seem easy, but when is anything ever easy in my life!!!
For starters, we only had Matthew and Peter (Paul had Uni today)
Matthew said he could go and buy his suit himself. He didn't need help.

Not happening sunshine. If I have to get an armed SAS Guard to get you into Slaters, I would.

Men, they just don't understand that things have to coordinate, match, not clash and not make them look stupid.

So grumbling chucked in the bin, we went off.

Actually, it was less painful that Lou and I thought.
Suit, shirt, tie for Matthew and the same for Peter, plus shoes.
Alterations to be done and suits will be picked up next week.
So, 2 out of 3 suits bought isn't too bad.

We still have the hair and make up trials, the hen night (should be fun), nails to get done, alterations to my dress.
Thankfully my shoes have been dyed.

(Another thing my Hubbie just couldn't get!!!!)

So life is busy.
And I've not even started on the looking after Christopher when Loise goes back to work!!!!!

Who decided it was December already........

......... I mean, have I been sleeping or something?
Can someone please tell me what happened to this year please. It seems to have gone in a blur of baby and wedding stuff.

Or have I just been hibernating?????


So much for saying I'd blog more........

Pie crust promise - easy made, easy broken.

So.......... what we've been doing.....
Getting lots of cuddles from Christopher.
Which is fine and dandy till grandad appears and I don't get a look in.
Hmph. Methinks it may be the smallest dirtiest wheeling that boy ends up in!!!

And......... drum roll please, I have bought my outfit for the wedding.
A maxi dress, wrap and fascinator.
NOT what I had planned but I love it!!

You'll just have to wait for pics!!!!!

So, now that it's December, I suppose I should be thinking of Christmas. I have done the shopping for presents, am doing a mass wrap of said presents this week.

The first big christmassy thing will be the putting up of the Christmas tree.
Not quite yet, but most likely the weekend of the 12th/13th.
Gives Paul a break from the crazy exam/performance merry go round that he's going through just now.

It will be an afternoon of mayhem, having Muppet Christmas Carol on and dragging out all the decorations we have bought over the years.
The Disney ones of course!!!
And the one from Yosemite - raccoons on the fir tree.
And recalling the weird Russian couple who were on the bus to Yosemite with us!!!!
We may even have a blast of the Fairy Tale of New York as well.

Christmas Day is at Louise and Andrew's, which means half a ton of Christmas paper for baby to play with!!!

I am going to enjoy it!!!!

..........and A partridge in a pear tree!!!

............... I know - you're all wondering why i'm on to the Christmas songs in august!!
No - not been at the Christmas bottle of sherry - yet. (but i may well hit it soon!!)

It was Matthew's Dad's 80th Birthday last week and we had a party at one of the sister's houses.
Matthew's dad has 6 children, 17 grandchildren and 3 great grandchildren (hence the adding  of said bird and said tree - i doubt anyone would have noticed)

So the age range was from 80 down to 8 weeks and 4 days old!!!!
The 8 week and 4 day old is the reason that i haven't blogged for ages - He is the newest addition to the family and my grandson!!!
In short, if he was chocolate you'd eat him

A pic of Christopher with Grandad at about 7 hours old.
Told you he was cute.

But anyway - Friday night was his big debut meeting family members on his paternal side. (the maternal or distaff sides party is in a few weeks when the Australians arrive!!!)

So off we went - convoy of 2 cars, 6 grown ups and a baby.

This child had a ball - we hardly saw him - apart from when he needed feeding and it was nice (mostly!!) to meet up with every one.

Come on - we've all got that one relative we don't want to see. But we behaved!!

For me, it's always rather bittersweet when we get together with Matthew's family. One of the cousins is 3 months older that Peter and has a degree in English Lit and Slavonic Studies. (yeah, right, cos that's the kinda degree that you're REALLY gonna get a job working as in Glasgow. Just crying out for teachers of slavonic wotsits!!!)

He's also now doing a PhD - something eastern European. I don't ask questions that i'm not really bothered about the reply to!!!

(i'm such and interested in how you're all doing Auntie - NOT!!! I will ask a couple of them, but mostly - nah!!! )

But it often brings home to me that Peter's development is well and truly delayed, he's not going to catch up and well, this is almost as good as it gets.

All this was on top of an incident that happened at the lunch club Peter does some work at. The incident (not going into details just now) just showed how vulnerable Peter is and how he can't always tell you what has happened. 
I kind of did know, but things have been ticking over well, but it was a kick up the bahookie even for the workers at the lunch club as well and has made us all think about how we approach things.

In times gone by, i would have cried and not really wanted to be there. 
But Peter chatted to most of Matthew's sisters, almost got me to slap the  one who is most patronizing and two of his cousins want to come to Disney with us in January!!!

Poor Claire - when we were talking about holidays, she was like " oh, i've never been on a holiday like your ones!"

(just shows that i maybe did something right. BUT - if i ever win big on the lottery, i may ask her mum if she and Anna want to come to Disney in Paris with us. These 2 cousins i love and they chat away to Peter!!)

Over the years, i have managed to be better about dealing with these family get togethers .
I try not to get upset and my thickened skin and black sense of humour usually get me through.

(oh, and the fact that we don't often meet up and i can escape back to our little world. That helps!!!)

But it was nice to see how good Christopher and Peter were in their  own ways.

Mind you, mother has one glass of prosecco and was knackered after.

Just not used to friday nights out anymore.!!!!!

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.

http://www.rarechromo.org/html/home.asp 

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!!!