Our daughter Bella was born in July 2006. Immediately after her birth we knew something wasn't right with our baby. With no ability to suck, swallow and breath we left the hospital with Nasal Gastric Tube feeds.
The weeks went by with long admissions into hospital, resulting in multiple stays in Paediatric Intensive Care Unit. No milestones were being reached with Bella. The terminology of ‘Failure to Thrive’, ‘Hypotonia’, ‘PEGS’ and ‘Global Developmental Delay’ became words now so familiar to us. With no answers as to what was the cause of Bella’s delays we started the round of weekly therapist and medical specialists, which also included two rounds of genetic testing by a genetics team in Brisbane.
After four years of still no answers to Bella’s disability we decided to change Geneticists. More genetic testing was ordered and after another three month wait, we received a diagnosis, Monosomy 16q24,3.
What this means for Bella is that she has a moderate Intellectual disability. Physically she is not where her peers are in relation to fine and gross motor skills. Her social skills and behaviours are not age typical.
Bella still needs on-going therapies. She regularly sees an Occupational therapist, and participates in a programme for children with neurological disorders called Conductive Education.
More awareness is needed in the community that not all disabilities are visible and that rare diseases are not as uncommon as you think. Families like ours need the same supports as those with disabilities that are more common.
Cathy Maguire - Mother