Five-year-old Maggie of Rockhampton was diagnosed with achondroplasia – a genetic disorder that results in dwarfism – via ultrasound when she was 31 weeks in utero. Her condition was then confirmed by a blood test when she was three-years-old. Achondroplasia is the most common form of skeletal dysplasia – an umbrella term that includes hundreds of conditions that affect a child’s bone and cartilage growth. Children born with skeletal dysplasia have abnormal differences in the size and shape of their skull, arms, abdomen and legs.
After her diagnosis, Maggie’s mum and dad, Krysten and Phil, wanted information.
“After the initial shock, I went into tiger mother mode, and set about finding out as much as I needed to know before she was born. I learnt that you don’t need to know it all straight away, but you need to know when to arm yourself with information and where you’re going to get it from,” Krysten said.
Maggie’s achondroplasia also meant she received grommets (tiny tubes inserted into ears to prevent ear infections) and an adenotonsillectomy (adnoid and tonsil removal to help her obstructive sleep apnea). There were also some initial feeding problems due to hypotonia (severely decreased muscle tone), which speech therapy helped. At 14-months-old, Maggie also underwent a foramen magnum decompression procedure to help fix her stenosis – a condition where the opening of the skull is not large enough for the spinal cord to easily pass through. Maggie still makes annual visits to the hospital for specialist physiotherapy.
“Maggie’s dwarfism affects almost every part of her life. Maggie’s bed is specially lowered. She runs and jumps to get on the sofa. Even with a side step, she has to climb into the car. She can’t get on a toilet or reach the sink. Everywhere at home there are steps or requests to be lifted, to have something opened, turned on or turned off,” Krysten said.
Despite her setbacks, Maggie is a singer and dancer extraordinaire and loves writing, drawing, swimming and playing in the sandpit with her friends.
“Maggie inspires us in much the same way any child inspires their parents to live their best life. Maggie inspires everyone – despite her challenges, she’s always happy and smiling.”
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