By Tom Scahill
This article is part of My Plan Manager’s guest blogger series.
My daughter Margie has velo-cardio-facial syndrome (VCFS), and thanks to the financial support of the NDIS she is receiving speech therapy that has enabled her to beat the odds and enjoy an excellent start to her first year at school.
VCFS is one of several tags attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, and even CATCH 22 are also connected to the syndrome caused by a tiny missing portion of chromosome 22.
VCFS also has an extended phenotype with more than 180 possible clinical features that involve essentially every organ and system. Baby Margie, for example, was born with a faulty soft palate, which unfortunately wasn’t immediately obvious to her doctors.
Initially, Margie’s palate produced severe feeding challenges that threatened her life. In more recent years, the malfunctioning muscle has obstructed her speech.
For example, most children born with 22q11 have cardiac defects requiring surgery. Fortuitously, Margie, born with VCFS in 2015, has no trace of heart malfunction. However, her small stature, pixy-like face and a defective palate are all related to DiGeorge sequence.
NDIS critical to seamless transition to school
Since 2018 and with the financial support of the NDIS, Margie has benefited from regular speech therapy. Due to her faulty soft palate, Margie was unable to communicate clearly – she still isn’t quite there to be honest. Fortunately, in July 2020, she had a pharyngeal flap operation to rectify her soft palate.
There was also the rapidly approaching deadline of her first school day in early February. After a month or so to allow the palate to heal, the speech rehabilitation started in earnest. The regime involved weekly visits to Margie’s terrific speech therapist and plenty of homework with the help of big sister Andie May.
It was nerve-wracking for us all, as Margie is tentative, mostly due to her small stature and communication challenges. However, the valuable work with her speechie, combined with the support of her preschool and early intervention teachers worked a treat. From Week 1, Margie’s kindergarten teacher reported she could easily understand the new-schooler.
Better still, thanks to the NDIS funding, Margie’s speech therapist pays fortnightly visits to her classroom. During these 45-minute sessions, the speechie works with Margie as well as her teacher and support to bring them up to speed on the latest speech drills and activities.
Tom Scahill is a single dad, whose kindergarten 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.