Mel Mikkelsen, 30, Wynnum, Qld
I watched my son Tom, three, happily playing with the toys in the paediatrician's room. The specialist sat on the other side of his desk with a curious look. 'He's a happy child,' I began. 'But his development seems to be taking a lot longer than his peers.'
The specialist nodded and I glanced at my husband Paul, 34, beside me. It was 2005 and ever since Tom was a baby, he'd been slow to develop. At six months, he still wasn't sitting up and, later, his talking was delayed. But thanks to speech lessons and physiotherapy, he had made progress.
The paediatrician took a blood sample to test for any genetic problems. Finally he called us with some news. 'Tom has a genetic condition called fragile X,' he announced.
I had mixed feelings of fear and relief. At least I know what it is so we can move forward, I thought. Paul and I looked up fragile X on the internet. It was a genetic condition caused by a mutation of the X chromosome. Symptoms of the condition range from facial irregularities and developmental delays to anxiety disorders and difficulty controlling emotions.
Find out more about Fragile X in this week's issue of that's life! magazine. You can speak to Mel about Tom's progress in our Forums or visit the National Fragile X Foundation for more information. |
