By Melissa Goffredo
Jeans for Genes Day (Friday, August 5) is an important and rare opportunity for parents of children with genetic disorders to raise awareness of little-known yet debilitating genetic conditions. And they don’t come much rarer or debilitating than a condition known as CDKL5.
My two-and-a-half-year-old daughter Annabelle lives with this condition. To underline how rare and unknown it is, the condition was only formally identified in 2004. CDKL5 severely slows messages from the brain to the body’s nervous system. Because my daughter’s case is severe, she’ll find it extremely difficult to be able to walk, talk or go to the bathroom at any stage in her life and even after many years of therapy. She will need round-the-clock care for the rest of her life. The condition also leaves Annabelle legally blind.
Any minor progressions in Annabelle’s motor skills are set back considerably by her daily seizures, which are similar in nature to epileptic seizures but are virtually impossible to slow or control.
I’m incredibly grateful that the National Disability Insurance Scheme covers most of our enormous expenses and 15 hours per week of physical therapy. But awareness surrounding CDKL5, and a host of other genetic disorders like Retts, FOXG1 and KCNT1 is still woefully low, relegating our children to a forgotten class of people.
I recently endured the shattering experience of being rejected from local disability service providers because Annabelle has too many disabilities. Most providers can deal with children who live with one or two of Annabelle’s conditions – but apparently not a child who lives with all of them.
While I accepted the reality of Annabelle’s condition some time ago, I cannot accept that she will be condemned to a lifetime of social isolation because there are very limited schools or disability support services to accommodate her.
I cannot accept that public buildings and public spaces will be virtually off limits to Annabelle as she grows because of inadequate changing facilities in disabled toilets across the country.
And I won’t accept that we cannot do better to make our city, state and country the truly inclusive places they should be for the most vulnerable members of our society.
That’s why I’ll be using Jeans for Genes Day, and every other opportunity I get to raise awareness about genetic disorders, so that those living with these conditions and their carers are treated with the dignity they deserve.
Melissa Goffredo is a proud mum of two girls who lives with her husband in NSW. You can follow her journey on Instagram at team_annabelle_
Their family is advocating for more research funding into gene therapy for CDKL5.
