My boys... growing up big

I cannot believe how quickly my kids are growing up.  The twins are now 9.5 months old and Michael is 3 years 9 months.  Time flies when you're having fun!

Never ever thought I would have 3 boys.............. but they are fantastic, AND SO CUTE!!

My journey to now - the story of Fragile X

I have had the most interesting journey over the past 5 months, to right now.  It has been a journey that has included me looking deep within to find strength and looking outward to face some of my most massive fears.

In previous posts I discovered that our precious Michael had developmental delay, however, we were to find out that was the least of our worries in the whole scheme of things..............

We went to the paediatrician and requested genetic testing.  We were told basically there was a 99% chance that it would show nothing.  He went through the genetic conditions that they test for.  One called Fragile X was discussed, but it was extremely unlikely to be that as the Dr hadn't had a Fragile X in over 10 years - and this was a Dr that took 3 months to get into because he was so busy.  I remember saying "oh that's good" and walking out of his office thinking "OMG has he just jinxed me?"  

Greg and I went home and Googled Fragile X.  We ticked off 90% of the symptoms.  We knew Michael had Fragile X.  The results for Fragile X should have taken 4 weeks.  When we still didn't have the results 10 weeks later, as they had been sent to Melbourne, I knew.  I hoped I was wrong because in 99% of cases it shows nothing.........................

BUT someone has to be 1% don't they............................

The paediatrician called after 11 weeks and proceeded to tell me that Michael was a "carrier" for Fragile X and didn't have it.  His issues & Fragile X were unrelated.  I told him I didn't believe him.  We were referred to Dr Mike Field - Clinical Geneticist (the best thing he did for us). 

Driving to see Mike felt like I was driving to the gallows. I was really hoping that the paediatrician was right, but in my heart I knew he was wrong.  I thought that I may have to try and convince Mike that there was something wrong with Michael, have to explain why I thought this way.  Sadly, and happily I didn't.

"Michael presents as a person with Fragile X, in the mild range.  He is a very unusual/rare case as his count is very close to full Fragile X mutation, and although usually he would be unaffected, unfortunately he is affected."

In a nutshell, Fragile X causes intellectual disability, amongst other quirky traits & behaviours.  Michael will be intellectually impaired (mildly).  He is developmentally delayed, has speech issues, behaviour issues & chronic social anxiety.

But sadly, this was (and remains) the tip of the iceberg................

Fragile X is a genetic condition and I passed it onto Michael - I am a carrier & had a 50/50 chance of passing it on to ALL my children.  One of my parents passed it onto me, and one of their parents passed it onto them (& so on).  We had to get the family tested - ALL the family.  Fragile X affects my whole family.....

My Family

and we had NO idea..............at all

Michael has Fragile X, Ben is a carrier for Fragile X, Rhys doesn't have it at all and we have to get Alex & Jemma tested.  I am a carrier, my sister is a carrier, my sisters unborn baby doesn't have it at all, her son has to be tested, my parents have to be tested.  Then depending on which parent it has come from, their siblings need to be tested, possibly their children and so on.

I am very lucky - I have one son who is affected with Fragile X.  My other children are unaffected, even if they are carriers.  It could have been a LOT worse.

I now know why the Universe gave me twins....... 

I have 4 children who can all share the load, once I am gone, to look after their special brother Michael.

Back - Jemma & Alex   Front - Michael, Ben, Rhys

Returning to what is good

I recently reviewed Critter Cottage blog and decided - I LOVE IT.

So I have moved all my old posts from the other blog back to Critter Cottage and will be closing my other blog.

Critter Cottage has history, it has character and it is ME.  When I started the other blog I was in shock and we had a lot happening - it was a bit of a crazy time for me.  It was a new chapter in my life but not the chapter I expected, or, more surprisingly, the chapter that I ultimately got!!.  More on this later.

We still have a lot happening, but I know I belong in Critter Cottage - with all my critters - human and non human.

More updates soon.......................

Rach

Long time, no post........ but there is a good reason :-(

Hello World

Yes it has been a loooooong time between posts hasn't it.  I noticed that my last was in October and that is when things in our life really started happening, and sadly not in a fantastic way.

In early December 2011, Michael was still developmentally not progressing with his speech and general development.  I was concerned, speech therapist was concerned and daycare was concerned.

We got him assessed by North Shore Assessment Centre (previously known as Chatswood Assessment Centre).  They were fantastic.  Diagnosis - Significant Developmental Delay.  They didn't think it was Autism.  They gave me a number of places to call for early intervention for speech therapy, occupational therapy, physcholgist etc.

I cried for a day.  The next day, although my eyes continually leaked, I called all the recommended services.  They all suggested I call a place called "Lifestart".   Hmm, hang on, Lifestart is for disabled kids............. oh that's right, my kid IS disabled :-(

Lifestart was the best thing I ever did.  I was SO incredibly lucky to get Michael into a programme for 2012 and it has been fantastic, both for Michael and for me personally.  I will be forever grateful to them.

Alex and Michael

The other suggestion from NSAC was that we could have genetic testing to see if anything genetic was affecting Michael.  In 99.9% of cases it will show nothing, so it was up to us.

When we went to see the paed, I requested the testing.