Micah, like most 5-year olds, is energetic and loves anything that moves or makes a noise!
Micah was diagnosed with Fragile X syndrome in 2011 aged two. It was during a routine six month check with the infant welfare nurse that concerns were first raised that Micah was not meeting his developmental milestones.
Poor eye contact triggered Micah’s referral to a series of allied health professionals for early intervention including physio, OT and speech therapy. According to mum Rachael, Micah always reached his developmental milestones, but he did so in his own time.
Before Micah’s diagnosis, his parents Rachael and Emiel Bressington had never heard of Fragile X syndrome. Although they knew something was ‘not quite right’, researching information about Fragile X syndrome was scary and worrying, and waiting for the results of the blood test was particularly difficult.
The Bressingtons received a confirmed diagnosis of Fragile X syndrome with mixed feelings.
On the one hand, it was a relief to have a diagnosis and to realise that there would be help and support available but, on the other, it was very disappointing for Rachael who had waited many years to marry and have a child.
Following the diagnosis, the family was referred to a genetics service for counselling and further testing that revealed a minor deletion on Micah’s FMR1 gene. After many months, Rachael’s DNA test confirmed that she has mosaic Fragile X and is therefore the genetic carrier.
Since then, Rachael and Emiel have gone on to have a second child, Ruth, who is now two years old. The genetics counsellor is keen to meet Ruth once she turns three but Rachael is very happy with her development and has ‘no concerns’ that she may also have Fragile X syndrome.
Rachael says she has a wonderful support system of family and friends, a positive attitude and a strong Christian faith which particularly helps her during the difficult times . She and Emiel also have the support of a fantastic team of educators and allied health professionals.
Micah now attends Holland Street special school in Geraldton where he has gone from strength to strength. He was the only kindergarten student at the school in 2014 and thrived under the care of a wonderful teacher.
His speech development accelerated during the year and Rachael says that now his speech has taken off, he hasn’t looked back! This year he will attend pre-primary.
Like most five year olds, Micah is energetic and loves anything that moves or makes a noise! He particularly loves his trampoline which was purchased from his Federal government BetterStart funding package but also loves water, books, balls and his bike – and he can now almost ride by himself.
Every family’s experience raising a child with Fragile X syndrome is likely to be different but when asked what advice she would offer, Rachael replied:
“Stay positive and never limit your child in any way. Encourage your child to grow to their full potential and remember you are never alone; there is a whole lot of support out there.”
Micah, his sister Ruth, and parents Rachael & Emiel Bressington, live in Geraldton, WA