Thursday, 29 March 2012

Merryn's Results Are In

I mentioned in my post yesterday that I hoped that bus was finished backing over the top of me.  This morning it turns out it hasn't.  Merryn's results have come back positive for Fragile X.

Her results show 30 on one X and 550 on the other.  I had hoped she was just a pre-mutation like me, after the last lot of results, but she isn't, she's full Fragile X.

I feel.....I don't even know how I feel.  I'm still in shock right now, this is so unexpected.  She is such a lovely little thing and she has developed and progressed so well.  Recently I've been worried about the fact that she doesn't have any words, but I figured I was just paranoid.  I now remember back to when Connor was 12 months old.  At that stage it looked to me like he was hitting most of his milestones too.  They do say that it is hard to pick up in the first 12 months as development is so variable.

So now what.....I don't know.....cuddle my kids and cry today and pick myself up off the floor tomorrow.


  1. I just found your blog, as I'am a fragile x carrier as well. Thinking of you and your family

  2. Thank you. I hope things are going ok on your end. If we'd known before we started having kids we would have gone IVF.

  3. Hi I have twin boys. One son has Fragile X and the other doesn't. Your children are beautiful. I heard that girls are not as affected as boys because in many instances the second normal X gene compensates. Your blog is really cool.

  4. Wow twins! You must be absolutely flat out.

    Girls are a bit of a moving target because our bodies choose which X chromosome to use everytime a new cell is created. They can be anywhere from profoundly affected to capable of completing university and leading normal lives. So far Merryn's body is making some good choices.

    Thank you for your compliments on my kids and blog. :)