Ethan and Logan
By Maria Goss
I have learnt more during my son Ethan’s first four 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.
What this also meant was that there was a 50% chance that I had also passed the gene onto Logan our second son – who at this stage was only four months old and already developing so differently to Ethan. We along with our doctor were pretty confident he was fine. Just to be sure we decided to get him tested. It also meant that my sisters, parents and other family members have also needed to be tested so we can start putting together the family history and hopefully give people the gift of knowledge of being a carrier before they have children.
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 in Perth. 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 fourth birthday. He is my lovable giant. He has such a gentle nature, the most infectious giggle, a love of water, being outside and watching Garfield. He loves buses and trains and listening to his favourite song, over and over again.
Although Ethan’s biological age is four, his developmental age is more like 18months. 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.
Logan is two and a half. He is my mischievous little monkey. He is quite social and always wants to be a part of the action. I always tell people he is the bossiest two year old without words. He is determined and once he has his mind set on something he just won’t give up. He too loves playing outside, listening to music and dancing to the Wiggles.
Logan isn’t as delayed with his development as Ethan but compared to his peers he is still a fair way behind. Although he doesn’t talk yet, his words are really starting to come which is very exciting.
Logan doesn’t seem to have the anxiety that Ethan struggles with however Fragile X makes it difficult for Logan to regulate his emotions. He is extremely emotional and becomes very upset over the smallest things – at times a little dramatic. People with Fragile X always want to make you happy and please you – so when they upset you it devastates them.
Together they are the best of mates and quite the team, always getting up to mischief and although not a word is spoken between them they know exactly what the other wants. It is actually quite amazing to watch them interact and communicate in different ways.
Whilst they are so different and face different challenges they still have so many things in common: their love of food, watching the Wiggles, playing on the trampoline, going to the park and bath time. They have the most infectious giggles and smiles that light up any room. They are such happy little boys who bring so much sunshine and joy to everyone’s lives.
Yes we have our challenges and trying times. Days that are harder than others. Moments filled with frustration and melt downs. Heartbreaking moments watching your little one become so overwhelmed in a situation that you just want to take away their pain… but we also have a lot of great days. Days that are filled with lots of laughter, playing games and enjoying the simple things. There is no greater feeling than watching your little one learn something new. They are constantly amazing us and making us proud with each and every new milestone they meet.
Since that day of first hearing the words Fragile X, over two years ago now – Luke and I have learnt a lot and through our journey we have helped educate so many people along the way – our family, friends, neighbours and even strangers we meet in the shops.
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. I knew that I couldn’t just sit back and do nothing, I had to turn this negative in our lives into something positive and try and make a difference. 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 now hosted two Gala Dinners, our first dinner was in 2014 where we hosted 320 guests at The Rise Function Centre and raised $80,000 which we donated to Kids are Kids Therapy Centre. These funds are going towards establishing a large, dedicated and fully equipped Physiotherapy Room, a therapy room for Occupational Therapy services and warm and inviting Reception area for families, making it a more comfortable place to wait and catch up with other families and therapists.
Earlier this year we hosted our second Gala dinner at Crown to a sell-out crowd of 520 people. Once again we were blown away with everyone’s generosity as we raised an amazing $165,975. These funds will be going towards building a purpose designed Sensory Wing at Kids are Kids. The plans are currently being put together and I can’t wait to see it all come together. I just know the Sensory Wing will help all the kids who go there for therapy.
Someone once told me that this is a great day and age to have a child with special needs and I have to agree. 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.
Ethan and Logan have taught me the value of living each day to the fullest. They teach us to laugh at ourselves and to try and not take life too seriously. They remind us that a childlike outlook is the best way of keeping life in check. As a mother, they have given me the strength and wisdom I didn’t know I had. They remind me what is most important in life. They have helped me realize that I’m here to make a difference in the lives of others. They teach me to listen – not with my ears, but with my heart because that is where the most precious messages are heard.
They help me to look with eyes that do not judge, because below the surface we are all a little fragile.
Goss family: Maria, Logan, Ethan and Luke