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