Tuesday 20 December 2011

Burning - Warning Graphic Content

Last night was another of the 2am wake ups.  Thankfully it only took about 30m to change his nappy, give him some milk and cuddles and settle him back into bed.  I have no idea what woke him, although he did have a very wet nappy so maybe that was it.

But that's really just a normal night, in fact I'd say an easy night, since he settled so quickly and then slept through until 7am (his sister was up at 5am of course).  What is really bugging me is the burning is getting worse this week.  This is one of those topics that people might not be that keen on hearing about, but it's one of the things about Connor that really worries me.  Since he was a baby he has had times when his poo burns his bottom right off.  When I say that I mean the skin goes red, blisters and then burns completely off forming open sores (I'll spare you the pictures I took for the Doctor).  It's just awful, I have to clean him off and apply lots of cream and then get his nappy back on, all while he screams in pain.  Thankfully lots of Sudocrem seems to help it heal fairly quickly (within a day or a few days when it's really bad).


This week he's been getting progressively worse, not quite open sores yet, but this afternoons was pretty bad.   It always leaves me wracking my brain trying to figure out what he's eaten in the last few days.  When he was about 19 months old we took him off all forms of dairy (he was only on goat milk formula by then) and that stopped the vomiting and dramatically reduced these incidences.  I am super careful about what he eats and have had him tested for allergies (nothing came back).  So obviously he is sensitive/intolerant to some things, but what?  The allergist recommended I try Sue Shepherd (http://shepherdworks.com.au/disease-information/low-fodmap-diet) who has done a lot of work on how sugars impact people.  I bought her book and made more modifications.  Still this happens (although I think it has helped).

The list of problems and things I've tried to solve them all is long, so very long.  My brain is fried, my energy low.  I know some things we have tried have helped and that things are slowly getting better, but it's a long road and we're not moving very fast.  Gripe, grump, winge.  :)

On the up side, his daytime sleeps have been wonderful again of late.  A weighted blanket and massage have been added to the routine and he seems to go down very easily at the moment.  Night time still takes a few hours as usual but I'm less involved as the baby is going down then too, so perhaps that makes a difference.  Not that Andrew isn't awesome, just that Connor is a bit of a mummies boy.  Who knows, we'll keep working on it.

Sunday 18 December 2011

Starfish Dreams

One of the bath toys we have has a starfish with a water wheel in it and a hollow shell. For weeks at bath time I've been showing Connor how to fill the shell with water and empty it into the starfish to make the wheel turn.

At first he just stuck his finger into the starfish to make the wheel spin. Then he started to put the shell up to the starfish but with no water in it. That's where things seemed to stall. He just didn't seem to get the idea that the water needed refilling.

Yesterday I took Merryn out of the bath first then came back a few minutes later for Connor. I could hear him splashing and playing, he just loves water. I walked in just in time to see him fill the shell and pour the water into the starfish. I was so proud!

I've seen him learn things like this before. You think he's not getting it or paying attention but then suddenly it all clicks. Maybe it's just because he can't tell me what he's thinking, but these things really do seem to come out of the blue.

More than that though it's about hope. At this age his Dr's and therapists have no real idea what his potential is. His level of retardation and his IQ could be mildly or profoundly impacted or somewhere in between. That moment in the bathtub, with a starfish, gave me hope that he might be ok. That he might go to a normal school and get a job and even marry one day. All the things mums always wish for their kids but which isn't a given for FXS kids.

The Night Terrors

I would say Connor wakes up screaming from a nightmare or just hysterically out of control at least twice a week, sometimes more. Last night was another one of those nights. It takes lots of cuddles and often the bribery of warm milk to calm him and finally get him back into bed. I couldn't really pinpoint when this started but it's been happening for a long time. I have no idea what the cause is and we haven't been able to spot a pattern. All we can do is just run as fast as we can to get to him because by the time you get to his room he's standing in his cot bouncing and crying with such terror it just breaks your heart.

Friday 16 December 2011

Little Steps

What a lovely day.  Every little victory is so hard won that it makes it exceptionally sweet.

Moment 1: For Connor's first birthday his lovely aunty gave him a little square trampoline because he has always loved to jump.  For a very long time he wouldn't get on it, then he wouldn't jump on it, then he would only jump on it if I held his hands.  Today my boy walked up to the trampoline, got on it and jumped all by himself.  I managed to get a short little video of it.  Such joy on his face.


Moment 2: Merryn adores her brother.  Now she is mobile (8 months old and crawling and pulling herself up on furniture, I'm in so much trouble with her) she follows Connor around as much as she can.  He adores her back and tries to play with her, but is generally a bit rough.  This afternoon he spotted his beloved iPhone (ok really my iPhone but with some games on that he loves) but the only path to me and the phone was over the top of his sister.  With delicate precision he carefully placed his feet so he wouldn't step on her despite his excitement.  It showed such thought and care, he got a big hug and kiss from his mummy.

Thursday 15 December 2011

DVD News

A few months ago we (my sister and I) were asked to be part of a DVD being made about Fragile X awareness.  We were interviewed and footage was taken of our boys at play.  Yesterday I got a call to say they've finished the first edit and they have also decided to put a picture of Connor on the cover.

I am very excited that Connor gets to be the cover boy.  The picture looks very cute and it's such an honour.  I'm super nervous about seeing the DVD though.  Not sure how it will be seeing myself being interviewed.  They are going to send me a copy to approve before they finalise the edit so I get to have a say....but still.  It's all for a good cause though and the more awareness there is out there the better for our kids.

Nearly everyone we've spoken too has had no idea what FXS is, which is really disturbing when you are the one explaining it to the doctor.  Even the few who have heard of it have limited knowledge (well except for our rock star optometrist that is).  I'm hoping getting more information out there will mean more interest and hopefully more research and maybe a cure.  I know that's an insane thought, but if it's just a shortage of something being made in the body and they could do something about that....well anyway, I like to be an optimist.  I call it my blue butterflies.

When I was pregnant with Connor I discovered that other women like to tell you their pregnancy and birthing horror stories, in detail.  By about month 7 I was really over the negative stuff and just wanted to focus on a being positive.  I figured going into labor with fear and trepidation was only going to make it worse than it had to be.  The whole power of the mind thing.  So I told everyone to no longer tell me the bad stories, from now on I was just going to think about blue butterflies and happy things and dream about the perfect birth.  Of course I didn't get my blue butterflies (read the page about my pregnancy and the birth) but I do still hold that philosophy.

Tuesday 13 December 2011

Just...Stop....Screaming

Connor woke up screaming at 1:30am last night. It's a very common occurrence and can last for hours. I used to have a fair bit of patience for it and have spent endless nights cuddling him while he slept in my arms. Last night wasn't one of those nights. I'm tired and stressed and I have nothing left after 2 1/2 years of this. I yelled at him and got cranky and thankfully his dad heard us and came in and took over. I went back to bed and took an hour to get back to sleep. Connor was asleep before I was.

I feel terrible today. I shouldn't loose it at him that only makes it worse. I just wish it would end.

Sunday 11 December 2011

FXS Christmas Party 2011

We met other Fragile X families yesterday.  I had been worried it was going to be quite confronting seeing other kids who were older and behaving how Connor will end up.  It ended up being really nice.  All the parents were lovely and they kids were a crazy maniac bunch, but all still just being kids.  

Connor had a great time racing around like a maniac and getting into everything.  He is super hard work in a public environment but if you give him your undivided attention he gets so much out of it.  I did think the other kids seemed a lot me adventurous than he is.  He loves the slippery slide but won't go on it without me or Andrew there to help him.  He's such a careful little old man when it comes to things like that.  I was thrilled that he ended up climbing the steps to the slide a few times with me just standing beside him.

It was also nice to talk about our experience so far with other people who were on the same path.  It felt like we weren't so isolated and not the only ones going through it, which was reassuring.  The conversation did highlight how terrible doctors are to parents though and everyone seems to have stories about being criticized and ignored and having to fight to get answers before (and even after) the diagnosis.  The medical profession really doesn't understand how they tear families apart who are going to them for help.  I feel very lucky that I ended up finding some really great therapists and specialists for Connor.

Saturday 10 December 2011

The First Blog

It's been an unexpected and difficult time over the past two and half years.  I gave birth to my first child on the 12th of June 2009 and within that first hour there were signs of what was to come when Connor refused to breastfeed...in fact he screamed when we tried.

But I'll go into all of that as we go along.  Today is my first ever post so I'm just saying hi, setting up the blog and of course getting interrupted by the kids about 100 times in the process.  In fact this whole blog will be pretty much run on the kids whim as I usually only get small snippets of time to myself (as all mum's know).  :)

Today it's raining and Connor has woken up crying and grizzly.  It took half an hour to get him able to stand and play by himself as at first he thrashed and cried in my arms.  He wakes like this quite often and......

Interuption - Merryn, our precocious 8 month old, is pulling herself up to stand, well trying and she got stuck in a plank position halfway up the entertainment unit.

.....as I was saying.  He often wakes sad and crying and all you can do is cuddle him and try to distract him until he can get himself together.  He's now running around the house making moaning sounds (I think it's him talking to himself, but he doesn't talk at all yet so that's his approximation of it) and pulling things apart.  I seem to say 'No Connor!' quite a lot at the moment.

I shall have to go and get Merryn in for her morning nap.  It's nearly 8am and she's been up since 5am.  Oh did I mention I get hardly any sleep....You'll hear a lot about that.  :}