Francesca (Frankie), now 10 years old, lives with Acrodysostosis type 2, a rare genetic condition that affects her growth, development, and many parts of her body. Today, Frankie is short-statured and continues to face challenges, including developmental delay, level 2/3 autism, attention deficit hyperactivity disorder (ADHD), sensory processing disorder, severe Apraxia of Speech, obsessive-compulsive disorder (OCD), hydrocephalus managed with a ventriculoperitoneal (VP) shunt, food aversions, allergies and more.
Frankie was born healthy, passing all prenatal testing and newborn checks. She met her early milestones until six months of age, when subtle signs began to emerge. A referral to the Craniofacial Unit led to a neurologist and genetics review, where concerns were raised about fluid on the brain and the unusual shape of her hands and feet. An MRI confirmed hydrocephalus, and a skeletal survey later revealed the diagnosis that would change her family’s life: Acrodysostosis.
At the time, Frankie was one of fewer than 100 people worldwide known to have the condition — and the only person in Australia. At the time of writing, there are now almost 200 confirmed cases globally, with a small but growing community in Australia. What began with a lonely, photocopied pamphlet has become a connected global network of families, supporting one another, sharing experiences, and driving hope for treatments and cures.
Frankie’s medical journey has been intense and has included:
- 11 MRIs
- 5 CAT scans
- 14 rounds of general anaesthesia
- 12 X-rays
- 3 brain surgeries
- 9 hospital admissions
- Over 30 outpatient appointments
- 10 days in the intensive care unit (ICU)
She is regularly seen by a team of specialists that includes a paediatrician, neurosurgeon, ENT, ophthalmologist, dermatologist, podiatrist, geneticist, endocrinologist, orthopaedic specialist and an extensive allied health team, which sees her undergoing speech therapy, occupational therapy, hydrotherapy and behaviour therapy.
Despite the endless hospital visits and therapies, Frankie is a bright, joyful, and resilient little girl. Her smile, infectious laugh, and sparkling blue eyes light up every room. She loves her younger sister Georgia, who brings balance, love and normality to the family’s world of medical appointments and advocacy.
Incredibly, the family and the Acrodysostosis community have achieved something once thought impossible: securing a major international research grant through Great Ormond Street Hospital in London. This groundbreaking project, now underway, is the first dedicated research into Acrodysostosis and the genetic mutations (PRKAR1A and PDE4D) that cause it. The hope is to pave the way for new treatments and maybe, one day, a cure.
Living with a rare disease is like holding Pandora’s box — constant medical, behavioural, and social challenges, with no clear roadmap. But Frankie’s family meet each challenge with determination and love.
“We deal with each thing as it comes,” says her mum, Kymie.
“The most important thing is giving Frankie the chance to live her best, happiest life. We know our journey is like a giant jigsaw puzzle. The pieces may never all fit together, but we’ll keep working with what we have.”
Frankie’s story is one of resilience, advocacy, and hope — not just for her, but for every child living with this rare condition.
