REM’s song ‘Losing my Religion’; epitomises my life as a mother of a child with a rare genetic disorder TCF20, of which she is the only one in Australia.
“That’s me in the corner, that’s me in the spotlight, losing my religion; trying to keep up with you, and I don’t know if I can do it; Oh no, I’ve said too much… I haven’t said enough…”
All children are unique, but Quinn Cox is set apart by the uniqueness and rarity of her condition. To understand her struggles, we need to consider Quinn’s journey through her six years of life.
Quinn presented with a multitude of health and behavioural issues from birth, forcing me, Kat Cox, to scramble for answers down a path of medical jargon and evolving diagnoses.
Quinn was diagnosed with hypotonia at birth (abnormally low muscle tone) which led to torticollis (neck spasms that cause the neck to twist to one side).
After a lengthy and emotional investigation into her delayed development, Quinn was diagnosed with chromosome microdeletion 6q22.1, autism, TCF20 gene mutation and generalised overgrowth syndrome. The TCF20 gene mutation may have accounted for her developmental delay, but it came with a prognosis of variable intellectual impairment, and further diagnoses of behavioural abnormalities and autism.
At the time of Quinn’s diagnosis, she was the only child known within Australia to have a TCF20 gene mutation, making the extent of her needs unknowable.
Earlier this year, Quinn was admitted to the Oasis Neuropsychology Unit at Monash Children’s Hospital for cognitive and behavioural assessment.
Her IQ was measured at 75 – a score recognised as cognitively-impaired yet considered too high functioning to qualify for a special development school or an aide.
An IQ of 70 is the current cut-off for a child to be educationally funded as special needs. But what happens to children who fall outside of this cut-off? Are they left to slip through the cracks? Every child has a right not only to education, but an education that meets their needs. Anything less is state-sanctioned childminding.
Quinn currently attends Bass Valley Primary School, where her performance falls well below the expected level, despite her transition to school being guided by a care team.
Quinn’s speech development is delayed, her articulation – which is vital to literacy development – is limited and she is difficult to understand. Quinn’s fine motor function is also underdeveloped, requiring her to attend occupational therapy for hand strengthening and her ongoing development is guided by a paediatrician and psychiatrist. She requires medication to help modify her behaviour and her dosages are regularly reviewed.
As it stands, Quinn’s only hope for funding is to be assessed as having a severe behavioural disorder, given that her IQ of 75 precludes her funding for the assistance she requires.
Her behaviour is often aggressive and erratic, which may be attributable to the abnormal behaviour outlined by the diagnosis of a TCF20 gene mutation. She is unable to access funding on grounds of her impaired speech, as that resource requires an IQ of 85.
Fortunately, Quinn is a member of a loving family, a supportive community and a school that assists her within the limitations of their funding. She also has access to the limited services available within her rural community. But love and support are not enough.
As I write this letter, Quinn is currently back on the waitlist for an OT and speech pathologist due to the lack of resources in Bass Coast.
These are very crucial years for my child. This is not at all a result of COVID-19 as this issue has presented itself well before COVID-19. As the manager of Grantville Pharmacy, I have been unfortunate to lose many beloved customers to areas with more facilities.
As this is the time where people are wanting to get into the Bass Coast electorate, I am asking on behalf of all the people who are struggling with children with autism, or with depression, or any special need that cannot be facilitated in Bass Coast to email me so that I can be the voice to pass onto the council and Jordan Crugnale (who has been instrumental in Quinn’s progression along with my workplace and the Bass Valley Children’s Centre).
“I thought that I heard you laughing, I thought that I heard you sing, I think I thought I saw you try….”
Now is the time for us to raise our voice for our community that we love so much and make sure that we have said enough.
Kat Cox, Grantville