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SIJoy has been smashing misconceptions and expectations her entire life. ✊
Joy was born with Spondyloepiphyseal Dysplasia Congenita (SEDc), a rare genetic disorder that results in short stature (dwarfism) and skeletal abnormalities. But her journey to diagnosis was far from easy.
After being referred to SickKids at just nine months old, Joy underwent extensive metabolic and genetic testing in attempts to identify the unknown cause(s) of some of her developmental delays. Every test came back negative.
Joy never exhibited the typical characteristics of SEDc. But after Joy’s mom Jolene asked her doctor to consider further testing, they pursued a specialized genetic test which confirmed that Joy did have the gene mutation responsible for SEDc.
Since her diagnosis, Joy has been a frequent patient at SickKids. Most recently, spending six weeks in the Hospital for halo traction and a 12-hour spinal fusion surgery. Despite all the adversity she’s faced, she is a sassy, smart, hysterically funny and kind teenager. Joy is her name personified.
Stories like Joy’s are an important reminder of the impact #PrecisionChildHealth can have on every patient and family who enter the doors of @sickkidstoronto looking for a diagnosis. We’re healing the future for all of them.
#DwarfismAwarenessDay #DwarfismAwarenessMonth #SickKidsVS #SKHealTheFuture
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