22 July is Fragile X Awareness Day.
Our family is Lisa and Michael and our 4 children: Dylan (11), Braden (8), and twins Marcus and Lucas (5).
I am a Fragile X carrier and so is Dylan. Braden and Lucas have Fragile X syndrome.
Braden was born with a condition called Pierre Robin Sequence, which led to major complications at birth (breathing difficulties, cleft palate). He pulled through but was plagued with delays & missed milestones – he was non verbal until he was 3.5.
The day before his 3rd birthday his younger brothers were born. Marcus was fine, but Lucas had problems from day one. At 6 months he wasn’t meeting any milestones, and we noticed he had a complete oral aversion. We asked the genetics department for family testing, two children with major problems couldn’t be coincidence! Later on a new speechie for Lucas asked if he had been tested for Fragile X syndrome as he had similar quirks to FX kids. I googled and realised that this was definitely Braden. The genetics department then reluctantly tested Lucas’s samples for Fragile X and months later confirmed the diagnosis.
The beginning of a diagnosis is hard, but I can tell you it gets better; you adapt, and you concentrate on all the positive things and all the things you can do to help your child have the best future they can possibly have. It’s a hard journey but creating a support network around you is key.
Braden and Lucas are both in learning support units at school. Dylan has just been confirmed as having ADHD along with learning disabilities, and is on waitlists for speech and OT. Braden and Lucas also have low muscle tone and are hypermobile, so along with OT and speech they also both have physio.
In terms of the boys’ future, I try not to think about it too much, and take each day as it comes. You just don’t know with our FX kids how life is going to pan out for them. To be able to advocate and support them as best I can is all I can hope for in the future.
Written by: Lisa Macdonald-Holmes
We are Adam, Charlotte and our 16 year old son Joshua (and Snow, the dog.)
We took Joshua to a specialist paediatrician when he was 18 months old as he had begun to show some behavioural and language problems compared to his peers. In that initial assessment Joshua was diagnosed with Autism Spectrum Disorder, with further genetic testing finding that he has Fragile X.
Since his diagnosis he has done speech therapy, occupational therapy, and psychology sessions. He had become non- verbal around his initial diagnosis so speech therapy has been a constant in our lives.
He is now a very chatty kid, is engaged with the world around him, and has a great sense of humour. He also does travel training, supported by an excellent support worker, and has recently started catching the bus by himself which is really exciting for us all.
The advice we’d give to other parents that have had a new diagnosis is:
- As hard as it is in those early days it will become easier.
- Support the people around you – it can be difficult to get your head around the diagnosis and this can happen at different speeds for different people.
- If anyone offers their help take it.
- Contact the local association of the condition and connect with their staff and other parents – they will have some great suggestions on therapists, schools, treatments etc.
- Find good allied health workers – they will be working with you as much as they are working with your child.
Joshua is now in year 10 at St Lucy’s in Sydney which he loves. The school supports children with different disabilities and they really understand his needs and how to get the very best out of him.
To relax we love taking the dog to the beach and getting out and seeing Sydney on the bus/ferry/tram and train. Josh loves his public transport adventures!
We are really excited to see what Joshua wants to do after he finishes school. We are working with his school and allied health team to help build the skills he needs to succeed and have as independent a life as possible.
Written by: Adam Lawrence-Slater
