Merryn's Results.....Well Not Really

So it's been something like 6 weeks since I finally bit the bullet and decided to get Merryn tested.  I thought it would be a quick process, the results would be back in no time, and it would be all clear.  I mean she's so amazing, crawling, feeding herself, waving and clapping.  So very different to her brother.  But of course that's not how it goes.

Today I went in to finally find out the results.  I went in two weeks ago but at that stage the GP told me they'd only found on allele and they had sent the blood off to the genetics lab to do more testing.  That made me nervous at the time because if they couldn't find the other allele that could be because it was too extended to find and she had FXS.

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Side Bar: So we all have two alleles, boys X and Y and girls X and X.  When  looking for fragile X in a girl you have to test both the X's to figure out what's going on.  When the X allele is extended by too many repeats on the end of it then you have FXS.  There is more info about this in my Fragile X page.
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So I've been nervously awaiting the results and getting more and more worried as time has gone on.  Today's results haven't made me feel any better, in fact they've worried me even more.  They have said they could see there are repeats, she has FXS, but they don't know how many and they want more blood.

I don't really know what this means.....Is she pre-mutation, is she full FXS, since one allele is good how does that work for her?  Tomorrow I will take her down and have the poor little love stuck with a needle so they can take more blood.

And then we wait......again......

Just Eat Another Piece Of Chocolate

Last year was a huge year.  We had appointments for something on most days, I had another baby, we got Connor's diagnosis (and mine too for that matter) and I spent way too much of it awake.  So Christmas has come and gone and I'm really struggling to get up and running again.  Connor has started his playgroups and fortnightly FECS but that's it.  I've not started all the activities and therapy I should be doing with him at home, the housework is a joke and I'm way behind in the other things I'm supposed to be doing for FBC who I volunteer for, amongst other things.

The psychologist from FECS was just here and I think I managed to sum it up perfectly when I explained to her I've just stalled.  There is soooo much to do and I'm so behind now that I'm getting NOTHING done.  I get the kids meals and sleeps and some play time done, I manage the bare basics around the house, and that's it.  And I feel so guilty about it all I can do is have another piece of chocolate.

Somehow I've got to get out of this cycle of procrastination and launch into 2012 before it's over....but how.  The tiredness is still a constant battle everyday so my energy levels are very low and I feel like I never get a break.  There is never a day when I can relax and just read a book and have a nap.  I know I'm a mother and we aren't supposed to expect that, but I find it incredibly hard to never get time to de-stress and unwind and just switch off.

And it's not just the kids that are a constant drain on my resources.  The adults around me seem to constantly what me to make all their decisions too.  What they are going to eat, where that bowl goes in kitchen, making the haircut appointment.  It just never ends.

I wish I could have just two days to myself.  To sit beside the pool, read a book and drink a very long tall Strawberry Daiquiri, go to bed when I want and sleep until I wake up naturally.  But that's just a dream, for now I have to be content to tap out my gripes on the computer and eat another piece of chocolate (let's not even talk about my failed diet).  :)

13 to 18 months

I've finally got back to writing the first two years.  13 to 18 months has now been added.  I had been going to write it as 13 to 24 months but then I realised how much actually happened in that year so I've split it up.  The final 6 months just need to be done now and the back story will be complete.

http://myfragilexboy.blogspot.com.au/p/13-to-18-months.html

Last Week In Review

I've been very slack in the last week.....well not slack exactly, just too busy to blog.  I hit the ground running when we got back from holidays and I've not had time to breath.

Firstly the kids sleeping was terrible last week.  We had multiple nights where Connor woke up crying and then kept going for three plus hours.  Then there were the nights when Merryn decided that 1am was a great time to play and wouldn't settle for hours either.  Some nights I was running between the two of them for hours.

Then there was a full week of activities for Connor.  Monday was playgroup number 1.  This is a standard run of the mill playgroup run by mums.  It's a lovely group that my sister has been going to for years, they do a fabulous job with running activities for the kids and are a lovely group of ladies.  Connor runs around and plays and I get him to sit and eat with the other kids and do whatever activity is being run that day.  He seems to really enjoy it.

Tuesday was the first FECS session.  The OT hadn't met him before so she ran through different activities with him to assess him and I discussed where we were up to with the Psychologist.  It seemed to go very well and the psychologist commented that he seemed really eager to learn.

Wednesday was playgroup number 2.  This is the playgroup run for special needs kids.  It's a small group and has a couple of teachers and an OT who drops in to see how the kids are going.  It's a bit more structured and includes activities specially designed for our special kids.  Connor had been doing really well in this group, getting used to craft and starting to touch things with texture and he loves to paint now.

Thursday and Friday had me running around like a crazy chicken catching up with a heap of other chores that had to be done.  Mum is still staying with us at the moment, so thankfully she was able to help out with kid watching.

Sunday we went to a 1st birthday party.  Connor just ran around in his own little world and didn't really acknowledge anyone else was there.  He seemed happy though.  A few hours before the party he'd spudded backwards off the bed into the bookcase though, so on the way home we decided to get him checked at the emergency room.  There seemed to be some swelling at the back of his head and I didn't want to risk it.  Turns out he was fine, but better to be safe than sorry.

The Melatonin is still going well.  Connor is still taking less than 30min to go to sleep at night.  I'm looking forward to going back to the sleep clinic so I can see if I can dose him with it when he wakes up at 1am and screams for the next 4 hours.  I don't think there is much we can do about the night terrors.  They are usually twice a week at the moment.

Connor is being very sweet and loving as usual (he's crawled up onto my lap while I'm typing).  He's lovely with his sister and starting to give her things to play with.  There is absolutely no change to his speech however.  He grunts and points and grab things, but he won't use a single word.  It's frustrating for all of us when he wants something.  I'm terrified he will never speak.  Not to mention that he will never progress past the intellect and ability of a two year old.  Seeing him around other kids just makes that fear even greater.  It highlights how far behind other kids he is.  I still dream of a cure, I probably always will.

He loves playing games on the iPhone

What Did We Do Differently...

3:22am, I've been up with two screaming children for over two hours now.

 Milk and nappies and cuddles are done and didn't work so it's just hours of wailing now until exhaustion sets in. Connor has been awesome all week, going to sleep really quickly and only having a few wake ups or none at all each night. Tonight he went down early, he wouldn't have a day sleep and was crying with tiredness. 1am he woke up screaming and though I managed to settle him once he soon started up again and won't be calmed now.

Just to add to it his sister is doing the same. She has nights like this sometimes where nothing I do works, when they both do it in the same night it's extra special.

Tonight is our first night back from holidays, I wonder if it's the transition to being back home? I thought being back in their own beds would be better but obviously something hasn't worked. Yet another of life's little mysteries.

Hmmm has Merryn gone quiet....I still hear Connor although only faintly....3:34am, maybe I get to go back to sleep soon, at least for an hour and a half before Merryn jumps back up.

Melatonin Update

The melatonin experiment continues and is going great! Our boy has been going to sleep in less than half an hour and without three bottles of milk. He has still had some wake ups during the night but even these have been fairly brief and he's gone back to sleep easily (only 1 night terror since we've been here). He's not been having much of a daytime sleep (maybe 1/2 an hour) but he is in a strange place and we've also been doing a lot of activities during the day. That being said I've practically moved his whole room down here. The porta cot is padded with pillows, his CDs play at night, his turtle puts stars on the ceiling and he has his blanket. We've been slowly moving the sleep time back and are now at 8pm. He's very tired by then so I think we'll go to 7:30pm very soon.

Holidays

We're off for a week away today.  Andrew has taken a week off work and we're going to go and relax in a friends holiday unit on the beach.

We've done three days on the Melatonin and it's going well so far.  I'm not sure if it's putting him to bed later (he's completely shattered by 8:30pm) or the Melatonin but he's going down quite easily within about 40 minutes now and having one wake up between 3am and 4am.  We'll do a few more days of the 8:30pm bedtime and then slide it back to 8pm.

Of course the change in bed and location could throw the whole experiment out he window and havoc could ensue but we shall see.

Not sure if I'll get to blog while I'm away, but if not I'll report back upon our return.  Wish me luck!  :)

Cutlery

I had a wonderful moment with Connor last night. He was all set in his high chair with dinner, sipper cup and plastic cutlery when I raced back into the kitchen for my dinner. Returning a minute later he had his knife and fork and was trying to cut up his meal! He didn't quite have the coordination but he was doing the right motions and more importantly he was mimicking something he'd seen us do. He was also trying to do something for himself. Usually he wants us to do everything for him and grabs our hands and guides them to what he wants. I was very proud and excited. He's having a very good week.

Mosaic Fragile X Petition

I've started a petition to try and get the Australian Government to allow Mosaic Fragile X children to be included in the Better Start initiative.  I've written some information about it in my Mosaic Fragile X page.  If your interested have a read or just click on the Mosaic Fragile X Petition link in the right hand menu to go straight to the petition.

Melatonin

Back from sleep clinic.  Ironically Connor won't sleep today, despite his eyes hanging out of his head.

We've been given Melatonin to try.  I had recently heard it was something that was used to help kids with sleep problems, especially Autism Spectrum Disorders kids.  After doing a bit of Wiki'ing it would appear it gets used for a whole heap of other things too (http://en.wikipedia.org/wiki/Melatonin).

So tonight is the big night.  I have to keep him up until about 9pm (which is the time he usually goes to sleep after the hours of faffing he does every night) then give him a dose of Melatonin and see what happens.  Eventually we should be able to graduate back down to a 7pm bedtime but for now that is the starting point.  We have 1 month to see if it works for him or not before we go back to the clinic.

Wish us luck!

Sleep Clinic

We're off to the sleep clinic today.  I don't want to get my hopes up about it because in my experience anything we try with Connor doesn't work.  I know that sounds very cynical, but over 2 1/5 years down the track, with numerous health professional visits under my belt, I'm a tad jaded.  I've been told so many times that someone could fix one problem or another and frankly it's never happened.  Don't get me wrong, we've made slow and steady progress on things over time and taking him off the dairy was definitely the exception to that rule but we've never found the magic solution to anything.

So today I head off to yet another appointment with 'muted' hope.  I would like Connor not to take hours to get to sleep every night.  I'd like him to stop waking up with night terrors.  I'd like him to sleep through the night.  I appreciate he is not yet even 3 so it's normal for him to wake up some nights still.  I'd just like that to happen some nights, not every night.  This is my wish list, let's see what they say......