Our Story

Our Story

I have learnt more during my son Ethan’s first six years of life than I could have ever imagined – valuable lessons that can’t be taught from books. He knows what it means to work hard and love deeply and his eyes sparkle over the simple joys of life.

Ethan was diagnosed with Fragile X Syndrome on December, 3 2012. After months of searching for answers as to why he was so delayed in his development, our fabulous paediatrician sent us for a variety of blood tests and a MRI scan – all the while hoping we wouldn’t actually find anything.

At first we thought all was well as the first round of blood tests and his MRI came back all clear… there were a few more results to come in but we were fairly confident all would be fine and with time and therapy Ethan would eventually catch up to all of his little mates. Our lives drastically took a turn the day our paediatrician’s office called me on a Saturday morning asking us to come in first thing Monday. As most parents know – the usual wait time for an appointment can be at least a month if not more – so being rushed in to see him could only mean one thing – they had found something.

My husband and I were pretty nervous waiting to see Ethan’s doctor – waiting is always the hardest part. I will never forget the words that followed next… ‘We have an answer as to why Ethan is so delayed. He has Fragile X Syndrome – full mutation’. Just like most people – Luke and I were thinking Fragile What? Our doctor gave us a brief run down on what this meant and that it wasn’t a short term condition – Ethan would face challenges for the rest of his life. Simple things that most of us take for granted – talking, playing sport, driving a car, getting a job, moving out of home, getting married, having children – these things now were more unlikely than likely. We were devastated! All the hopes and dreams you have for your child just seemed to be washed down the drain, and it was done so in a matter of seconds.

So what did all this mean for us? As Fragile X is an inherited intellectual disability and the X gene is only passed onto a son from his mother, we knew then and there that I was a carrier of the gene. Before that day neither one of us had ever heard of Fragile X or had any indicators that this was in our family history. As most parents can imagine, it has been a hard pill to swallow – knowing that I am the carrier and I have passed this gene mutation onto my son. It took me a long time to accept that being a carrier isn’t my fault or something I had any control over. There are still days when that is harder to accept than others.

One of the most frustrating parts in the whole testing process is the wait for the results… five months after Logan’s bloods were taken and after many phone calls from me questioning what was taking so long… we received the phone call no parent wants to receive. Confirmation that Logan too has Fragile X – full mutation. This news rocked us to the core and for a long time made us both pretty angry. Seriously both of them? It just didn’t seem fair. I think Logan’s diagnosis hit us a harder because with Ethan we were in search of answers, however with Logan it caught us completely off guard.

Soon you realise that being angry doesn’t make things better and it wasn’t going to change their results. So we shed our tears, took some time out and educated ourselves on what the future held for our family.  The best decision we have made to date was getting our boys into the Early Intervention Program run at Kids are Kids! Therapy Centre. At Kids are Kids we work together with a team of dedicated, enthusiastic and talented therapists who are focussed on working with us to help our little guys develop to be the best they can be. We have seen some huge improvements in both boys and every milestone met no matter how great or small is celebrated.

Both our boys have very different personalities and challenges, individual likes and dislikes. That is the thing about Fragile X – the severity between each individual can vary from person to person, even within the same family.

Ethan recently had his sixth birthday. He is my lovable giant. He has such a gentle nature, the most infectious giggle, a love of water, being outside, ten pin bowling and watching Garfield. He loves buses and trains and listening to his favourite song, over and over again.

Although Ethan’s biological age is six, his developmental age is more like 3 years. He is extremely delayed in all areas including his speech, fine and gross motor skills and also his level of play. He is still in the first stage of play which is cause and effect, doing something and getting an immediate reaction – he doesn’t understand how to play which often leads to toys being thrown around the room. He also struggles greatly with his anxiety and becomes very frustrated and overwhelmed throughout the day or in loud and busy environments. The simplest task – like getting out of the car and moving into the house is often quite the challenge. Fragile X takes away his ability to forward plan and know what is coming next which is what leads to the meltdowns.