HAPPY BIRTHDAY JAIDEN!

Aw... my little man is officially a big 4 year old!!
At school yesterday they all sang the 'Happy Birthday' song and blew out 4 candles and Jai got a sticker and a special little card with his photo on it, i love that school - the teachers are so sweet :)
Today we met my mum (aka 'Nanna') for breakfast out and then went back to her house where she gave Jai his present - an absolutly awful dinosaur with scary body movements, a big roar and and light up red eyes ~shudder~ - and of course he LOVES it!
Then we went to visit a friend of mine who has a mini reptile park/petshop type set-up and he let Jaiden pat the baby crocodile and hold a snake which made him very happy. -"was streemly fun, mum,I pat the croc-a-di-el, streemly fun!"
I am so amazed at how quickly he has adapted to saying that he is 4 - of course on our little outing this morning he had to tell everyone that it was his birthday and when they asked his age he quickly put one hand on his hip, struck a rather regal pose and with a big smile announced " I FOUR!" LOL and funnily enough his favourite song in my current car CD "Number free mum, put number free!" aka 22 steps has now become "Put number four mum, number four!!" - He is just so darn cute!


We will have his party on Sunday and so i will have to start researching "how to make a frog cake"... He has been asking for a 'frog cake' since he started talking.. wish me luck!

Found this...

http://www.uth.tmc.edu/clinicalneuro/institute/2005/RHagerman/Bearden,%20Wang,%20et%20al.pdf

I think i may be paranoid. Ok off to bed now, i promise!

Holland mark 2

Well, i appear to have landed in New Holland and i dont like it one little bit. The tulips seem to be dying and although oh so vaguely familiar scenery it doesnt feel right. No.
Have been researching this 22q and not liking what i see... Not that i dont like the syndrome (who likes a syndrome?) I mean it doesnt sit with me. Really doesnt. No.
Well i can vaguely make out what the doctor means, but i dont 'feel' it.
LOL- how stupid of me. i have fallen into the whole 'if he has to have a syndrome Williams is the one to have' trap and now i have spent all this time familirising myself with WS and falling in love with these beautiful kids and their families and suddenly its as if someone is threatening to cancel my visa and ship me off to another country!
I reckon the 22q kids look more like Lachie than Jaiden and there is nothing wrong with Lachie.. - Hmm that didnt really come out right - its an ear shape thing...
What about the passion for music?
The out going nature? - everything i have read about 22q implies those kids are socially awkward because they are shy as opposed to because they like to hug complete strangers.
Although WS and 22q are quite similar in several ways - eg heart defects, reflux etc and total opposite in others eg Low Calcium probs with 22q as opposed to high calcium probs with WS.
And Noses... ws = short turned up, 22q = long not turned up nose - Jai has a short not turned up nose so where does that leave him?

I think what struck me so much about WS was not just reading the fact sheets so much as 'meeting' the families and hearing the behavioural similarities, watching the videos and recognising the way they run and talk, the facial expressions the WS kids tend to pull - you guys know the ones - and the fact that i can see Jaiden in every one of the kids on this blog role in various ways.
im drivelling.. sorry im tired - i really should be in bed, but ive been lying awake thinking about this new holland that i may or may not have to make a big part of my future and i just dont feel it. I dont know i guess i have reached the "acceptance" stage with WS and if its not WS i am going to have to go back to square 1 aka "denial".
Does anyone know if there are Williams Kids with cleft Uvulas or palate problems?
ugh. ITS ONLY A MONTH KATIE!! GET A GRIP GIRL!!! after all this, its only a month.

Answers.

Wow, i dont think i have been more nervous in my life than i was this morning, i took the boys to school, chatted with Jai's teachers a bit, went and visited my sister and picked up Jai and went home to wait for Holger to get back from work ready for the dreaded appointment.
We finally found a rather tight car parking space at the hospital and walked through the entrance and down the long hallway to the main building inhaling the strong smell of disinfectant, we dodged a mass of elderly women who were bustling around a bizarre book fair type of set up smack bang in the middle of the reception area and found the lifts to level 5 Paediatrics and Genetics. The whole floor looked much like someone had bought every colour of paint available and splashed it across the walls in no particular pattern, i kind of felt like i was at the Wonka Chocolate factory without the chocolate. A young nurse directed us to the Genetics department which was a rather small series of rooms sharing with the Juvinielle Diabetes department. We took our seats in the waiting room and a bubbly women told us the Genetisist would be along shortly. Another couple appeared in the waiting room with a very young baby with a nasal tube attached to her tiny face, Jaiden of course started a conversation with them the minute they entered the room and instantly got smiles. A tall man in a suit came in and spoke to them briefly before directing us through to a larger room accross the hallway. We sat down and were joined by the Genetic counceller and a Genetics student. The tall man introduced himself as our Genetisist and he had a warm smile which made me feel really comfortable - not a feeling i usually get from specialists. He had also seen several WS patients before.
As soon as we entered the room Jaiden went into "internal mode" and his only form of communication became his huge smile. We explained why we were here and went through the same barrage of questions from the phone call with a quick correction on the birth weight, he went on to examine Jaiden extensivly and spoke to us about what he was doing as he was doing it. He studied Jaidens eyes for ages and took some clinical photos of the marked "Stallate pattern" to use for teaching purposes, we were also informed that Jai has a problem with his retina not likely to be related in any way to the genetics but we were reccommended to get a refferal to an opthomologist ASAP as this would need to be corrected. Hmmm..
Another new discovery was that Jai has a soft pallate and promenent Cleft of his Uvula (little dangly bit in the throat) which has somehow been missed by a zillion doctors and an ENT and that under no curcumstances should Jai EVER have his Adnoids out as this would collapse his pallate entirely and cause all sorts of problems. Well...
After all the examining and talking the conclusion was that he doesnt really feel WS fits properly due to gross motor skills being pretty good, his nose wasnt really as turned up as he would expect to see from WS and he didnt feel he was social enough (although something about doctors offices makes Jai very quiet and very complient, not his usual self - i reckon he was scared!), however the geneticist did feel that due to all the other symptoms, behaviour and especially the Stallate Iris pattern it certainly needed to be tested for if only to be ruled out. His hunch is that it is actually a 22q Deletion Valo-Cardio-Facio-Syndrome, which i have to go and re-study as in my internet self diagnosis search i had ruled that out for some reason. So in the end he tested for WS, 22q, Fragile X and a general Karotype + urine analysis - we should have the results back in 1 month and he said that if these tests comeback negative then we should come back and do some furthur testing as he feels that Jai's problem is definatly of a Genetic nature.
I think today was the first day Holger really grasped that Jai is not and probably never will be 'Typical'- i could see that realisation on his face as Jai had the bloods drawn, I feel suprisingly emotionless - im relieved that this day has been and that i didnt get persecuted for my internet research in any way and i also feel comfortable with the Genetisist and felt i could be open and ask questions.
So i guess, now we wait.

Tomorrow

Well after all this time its upon me. Tomorrow is D day.
I had a phone call from the Genetisits nursy type lady the other day who hit me with a barrage of questions over the phone while i tried to fend off 4 very noisy and persitent under 6yr olds. She questioned me on all the baby hood stuff and i was surprised at how many questions i had trouble remembering the answer to!
When did Jaiden smile/roll/grasp and object/wave/clap/sit/stand/walk/toilet train etc!
How big was he when he was born? - Now that one was easy 2.8kg!
Now i go and get his baby book record thingy to take with me tomorrow and it claims he was a whopping 3.08kg! WHAT?? Then i look into Liams baby record and HE was the 2.8kg bub. Well. I cant even remember which child was what size, it has me questioning everything else i told the Geneticist nurse type lady over the phone! And according to the baby book Jai smiled at 6 weeks? IM SURE he was later (more like 3months) because it was one of my first concerns - maybe he was gassy and i was doing the new mother hope its a smile thing and assured myself and the lady who checked him that he WAS smiling... I also hadnt had anything in the record filled in except vaccines since he was 8 weeks old...
Aughh! I know i went to the GP a few times with the reflux concerning me but just got told he would out grow it and since he was gaining weight all was good.
I pretty much managed it on my own - he couldnt breast feed very well and was skinny as a rabbit so i put him on formula at about 3weeks and litrally dripped the bottle into his mouth cause he had a poor suck with some attempted breast milk in between till he got the hang of the bottle which was in reality only a few weeks but felt like eternity at the time, we used these great colic drops in it and despite throwing up constantly for the best part of his first year (even in his sleep)
That formula worked wonders and he thrived weight wise - always short and kind of slow to grow a few clothes sizes behind his age but still growing!
Basically until at 3 he wasnt talking the GP never took any of my concerns seriously and as she deemed Liam very bright just kept telling me not to compare the boys! Kids normally wave before 15months dont they? I doubted myself - maybe i was just over worrying.
I actually felt some degree of Joy when after a Paed referal because of language delay and the subsiquent "Griffiths Assessment Scales" it was revealed Jaiden was in the "Low range of abilities" . Somebody thought i wasnt mad and actually listened to my concerns + reffered Jai to the EIU. I LOVED that Paed. I was really dissapointed that he left the state and i didnt get to see him again.

I wish i had changed GP back when there were acid burns all down Jaidens chin and neck from his toxic dribble, i hope the poor kid didnt suffer from that too much - he was just so damn complient, i guess he has always had a high pain threshold.

This is turning into a bit of a ramble i always ramble on more when im nervous, i guess i am feeling guilty for not doing more earlier and my own stubborness might be to blame for nothing being done earlier - if only i had spoken to the baby nurses more instead of just going to the GP ( i had a problem with one of the baby nurses at the clinic and didnt go back again). Live and learn i suppose. Tomorrow is a new day. The first day of the rest of our lives. Then we wait for the FISH and possibly any other tests they may want to do.

Just one last thing....
Thank you to all of my fellow Bloggers whome with out i dont know how i would have made it to this day. And i would also like to say how excited it makes me to see how much the blogging list has grown now! We have a great little community and i feel honoured to be a part of it :)

Waiting...

Wow. I just got one of those punch to the stomach moments.
I was reading Penny's blog and came accross the link to Tyler's site. I hadnt seen this site before and so decided to have a squiz.
I was enjoying reading the journal entries when i came across a picture of Tyler in a spongebob costume.
BANG!
There it was. Change the hair and you had Jaiden. Then all of a sudden Jai waltzes up to the computer and starts giggling " Its ME, Its ME on the puter mum!!! My sponge bob!! Where's my sponge bob????" I then told him it was Tyler -not Jaiden on the screen and he wouldnt have it, lots of "NO MUMMY IT ME ON THERE!!" followed by a meltdown because he wanted "his" sponge bob costume and i couldnt give it to him.
Woah.
I see William's faces every day. EVERY day i see the similarities. Sometimes i come accross a photo that makes me go OH MY GOD! There is no denying it.
Hmm... but when i stop for a while i start to doubt my little self diagnosis and picture myself walking into the geneticists office only to be laughed at and sent away with a "how abserd!" comment and a wave of the hand. I think i am more nervous of being told its NOT WS than of being told it IS. Then at least the unknown is over.
12 days to the Genetics appointment, its been so long and its so close now i cant stand this waiting anymore. 12 days then of course there is the wait for the FISH results. I could scream.
Im sorry i keep posting the same topic over and over, i guess its because it plays on my mind over and over- im at the point where it shouldnt even matter, but it still does. I wonder if there are any WS families hiding in Canberra? That little boy that came into my work once certainly looked the part...
12 days.

Validation

I awoke at exactly 5 minutes before 9am this morning with a sudden start when i realised that i had exactly 5 minutes to wake up, dress, and feed three children, aswell as shower myself and find something to wear that would meake me look like a remotely presentable parental figure.
The reason behind the unusually lengthy sleep in on a school day is due to the fact that we didnt get home until after midnight last night after a rather unexpected invitation to visit some friends in a nearby country town for dinner who also happened to have a mutual friend from Sydney there for the night... Of course we had to go and the evening was lovely but dragged on a little bit too long for a tired mummy and three small children.
At 11pm i finally detatched Liam from an X- Box and peeled sleeping Lachie and Jaiden from the couch and convinced them to sit the car while i dragged my rather intoxicated husband from his mate and an intelligent conversation that appeared to be solving all of the worlds problems at once. We said our goodbyes and headed off on the long drive home taking care to avoid plowing into a mob of Kangaroos that were sitting in the belting rain on the edge of the windy road thretening to jump out in front of us at any moment.

So although i awoke this morning in a mad panic, i did manage to get the children out of the house and to school, packed lunch and all by 9:30am - which i must say i think was a pretty good effort all things considering!
After we waved goodbye to Jaiden, Lachie and i headed to the supermarket to purchase some Nappies and food essentials only to go to pay and realise my darling husband still had the credit card in his wallet! After many embarressed apologies to the cashier and the people in line behind me we left the store quickly empty handed and it was already time to collect JJ.

I arrived at the EIU a little early and sat down to watch the children do their goodbye song and then stayed back while Jaiden and Aiden played together nicely outside. We were having a look at some picture board style books for Aiden that J's teacher was making and the three of us got chatting It was lovely to speak with Aidens grandma properly for the first time and i have discovered she is a breast cancer surviver down from Queensland. We spoke openly about the children and their quirks and we both realised we had alot in commen. We also spoke about things like taking the boys to the shops and how hard it can be sometimes when people give you those 'looks' and comments, we spoke of how she had survived breast cancer and of our hopes for the kids future. Jaiden and Aiden played brilliantly together the entire time - which we all agreed was the longest either of them had played nicely with anyone with no interuptions - EVER!
We didnt end up leaving for a further hour and a half and i left feeling very validated about my feelings and although i know im not alone, it was kind of nice to have somebody "In real life" and not on the internet to share with.