Ethan and Logan's story
Ethan was diagnosed with Fragile X syndrome in 2012. After months of searching for answers as to why he had delays in his development, our paediatrician sent us for a variety of blood tests and a MRI scan. At first we thought all was well as the first round of tests came back clear… there were more results to come but we were confident all would be fine. Our lives drastically took a turn the day our paediatrician’s office called me asking us to come in.
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 run down on what this meant, 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 – these things now were more unlikely than likely. We were devastated!
As Fragile X is an inherited intellectual disability and the X gene is passed onto a son from his mother, we knew then that I carried 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 hard 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.
What this also meant was that there was a 50% chance that I had also passed the gene onto Logan our second son so we had him tested as well.
Five months after Logan’s bloods were taken we received 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. 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 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. 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.
At the end of 2013 I decided to start the Think Foundation X Foundation with the aim of raising awareness and understanding about Fragile X in the community. We host fundraising events throughout the year and donate all the money raised to a charity organisation who help people living with Fragile X.
We have met the most wonderful doctors and therapists along our short journey with our boys and every day is filled with hope and new discoveries.