FAIR FOR RARE: Francesca’s Story
Francesca is a beautiful happy little girl who was diagnosed with a rare mutation to a gene - ADCY5. When Francesca was diagnosed our doctor told us that there were only six other families in Australia with ADCY5, and 120 diagnosed worldwide.
Francesca was born with no complications. It wasn’t until at the age of four months I suspected something was wrong as she wasn't sitting up and she was very weak. After further investigations from early childhood nurses I was referred to my Paediatrician. He examined her and said she needed some blood tests, at the time he thought she might have cerebral palsy.
At 18 months Francesca had an MRI, and it come back normal, there was no damage to her brain. All her blood tests for angel-man syndrome, fragile X and other genetic conditions all came back negative. By now Francesca was two years old and not crawling, walking, standing or sitting unaided. We were then referred to a Genetic specialist. She again had to have multiple tests performed, all with negative results. By this stage we were trying alternative medication and seeing numerous specialists, but no one seemed to have a diagnosis for Francesca.
When out Genetic specialist suggested we have a chromosome sequencing test, we were hopeful that this could finally provide some answers. At the time this had to be done in the UK as it wasn't yet available in Australia. Four years later in 2015 at the age of 10 Francesca was finally diagnosed with ADCY5 from chromosome sequencing blood test.
Francesca life has always been full of question and the unknown because of her rare condition. This impacts her life and ours as we don't know what to expect, as she grows.
Francesca uses a communication device and that helps her so people can understand her speech, and she takes medication to stop her twitching. Rare diseases like Francesca can exhibit a high level and diverse range of symptoms, requiring the care of a range of different health specialists. We need access to coordinated care which is vital to better meet the needs of people living with a rare disease.