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..............................