By Tom Scahill
This article is part of My Plan Manager’s guest blogger series.
The fateful phone call from my daughter Margie’s paediatrician in August 2015 will be eternally etched in my memory. “The good news is we’ve worked out why Margie isn’t feeding. The bad news is it is velocardiofacial syndrome.” At the time, Margie was four months old.
Velocardiofacial syndrome (VCFS), also called ‘22q11.2 deletion syndrome’ is caused by the deletion of a small segment of chromosome 22. Symptoms vary; however, palate issues such as cleft palates are common. Baby Margie, for example, was born with a faulty soft palate, which unfortunately wasn’t immediately evident to the medicos.
22q11.2 deletion syndrome can also cause heart defects, problems fighting infection, low calcium levels, low muscle tone, as well as a common facial appearance.
From birth, keeping any food down was an enormous challenge for little Margie, and it was touch and go. But, thanks to a percutaneous endoscopic gastrostomy (PEG) surgically inserted just before her first birthday, Margie survived and started to thrive.
NDIS is a financial lifeline
While Margie’s survival is a gift, our family has likewise been gifted a financial lifeline by way of the National Disability Insurance Scheme (NDIS). Apart from her palate issues, Margie’s low muscle tone has contributed to her speech, health, and growth challenges.
And after plenty of hard work, I can report that Margie is making great strides – literally. Our pre-schooler often runs down her bigger sister and is fixed on one day catching her older teenage brothers. That said, there is still plenty of work to do and this year we are focussing on developing her fine and gross motor skills with the assistance of the OT.
Due to her defective soft palate, Margie is unable to communicate clearly. Fortunately, in July, she had a pharyngeal flap operation to rectify her soft palate. The surgery delivered immediate improvements. However, the hard work to prepare Margie for her first day of school is now on in earnest, and we are in the hands of our terrific speech therapist.
The expression, ‘The Lucky Country’ is often used out of the context intended by the historian Donald Horne, who penned the phrase almost 60 years ago.
We are fortunate to live in a blessed country that can provide such a fantastic funding scheme like the NDIS that gives our remarkable and resilient daughter the chance of a genuinely precious life.
Tom Scahill is a single dad, whose preschool age daughter Margie was diagnosed in 2015 with velocardiofacial syndrome (VCFS), a rare chromosome deletion syndrome. He is an ardent advocate for the impact the NDIS can have on the lives of children with VCFS.