bustled into the lounge room look-
ing concerned. “What’s the matter,
Mum?” asked Mark.
Motioning for my brother and sis-
ters to sit down on the couch, Mum
dabbed the corners of her eyes with
a hanky and proceeded to tell them
about the doctor’s visit and the
diagnosis.
“It’s your baby brother,” she said
shakily. “He’ll never be physically
normal.”
AN UNCERTAIN FUTURE
Above all, Mum was terrified of what
the future might hold for me, and,
in particular, how I’d go through life
living with a disability.
Over the years, I’ve developed a
clearer understanding about the
condition I have. Achondroplasia
results when a random mutation
occurs in the fibroblast growth fac-
tor receptor 3 gene (FGRF3). It affects
one in 25,000 births and occurs dur-
ing ossification. In most cases, the
gene has no impact on bone growth,
but if the gene mutates and becomes
active, it can result in shortened
bones. In 80 per cent of cases, like
ours, there is no family history.
For babies with achondroplasia,
development can be slightly slow.
Fortunately, with me, nothing was
unusual. I commando crawled for a
long time and my first word, to her
delight, was “mama”. I was a happy,
smiling, albeit slightly chubby baby
who, despite my physical differences,
appeared normal in every other way.Above left: Mark, Louise and Ian o
set of wheels, which allowed him to go riding with his friends and be like other kidsPHOTOS: FULTON FAMILY COLLECTION120 Augus t 2019
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