Francesca (Frankie), aged almost six-years-old, has Acrodysostosis type 2 which affects many parts of her body, growth and overall development. Frankie has developmental delays, level 2 autism, sensory processing disorder, a speech delay, obsessive compulsive disorder (OCD), a ventriculoperitoneal (VP) shunt to support hydrocephalus, food aversions, allergies and more.
Frankie was born healthy and passed all in vitro tests and her newborn checks and scans. She met all of her developmental milestones at six months of age. Due to her low nasal bridge, which was assumed cosmetic, a specialist ENT referred Frankie to the Craniofacial Unit for assessment by a plastic surgeon.
As part of the Craniofacial Assessment, Frankie’s parents, Kymie and Michael, met with a neurologist and genetics specialist. This is when there were first concerns about the size of Frankie’s head and its rapid growth, and fluid on the brain was suspected. An MRI was booked to determine the extent of the hydrocephalus and what intervention would be required.
Slowly digesting this information about their beautiful six-month-old baby girl, Frankie’s parents then met with the genetic specialist. He immediately noticed that Frankie’s hands and feet were a different shape and size before the words, “possible genetic condition or disorder,” fell from his mouth.
Frankie’s parents sat speechless and Kymie started to cry with disbelief, caught up in a wave of emotions and confusion. The family’s rare disease journey began one month later with the confirmation via a skeletal survey that Frankie had something called Acrodysostosis and that she was one of 70 people globally and the only person in Australia with this condition. An extremely rare gene mutation is the cause.
There was no specialist to see, no doctor with any experience or understanding of Acrodysostosis. Frankie’s parents were given a photocopied pamphlet with a list of words like global developmental delays, impaired, skeletal dysplasia, short stature, hormone resistance, challenges, special needs, behavioural, medical, complications and more.
With nowhere to turn, Michael started a Facebook page and within the first week, we found another family in the USA, and then two more families in the UK in the second week. And now, five years on, 120 families have been found, five in Australia, all connected by Acrodysostosis. Supporting, sharing, loving each other and hoping for a treatment and a cure so that their children can have healthy, fulfilled and happy lives.
In her short life, Frankie has had nine MRIs, three CAT scans, general anaesthesia 12 times, four X-rays, three brain surgeries, seven hospital administrations and 10 days in the ICU. She sees a specialist paediatrician, ENT, neurosurgeon, ophthalmologist, dermatologist, podiatrist, geneticist and endocrinologist… and this is just the beginning of Frankie’s journey.
The family juggles therapy and hospital appointments on a regular basis. Frankie is fortunate to attend an Early Intervention Unit at a local public school three mornings a week, and she attends day care in the afternoons. In between working, Frankie’s parents taxi her to and from each of her educational environments, all while balancing their careers, relationship, life and Georgia, their neurotypical two-year-old and Frankie’s little sister.
Though it’s exhausting, stressful, and emotionally and physically challenging to juggle so many aspects of Frankie’s daily life, the benefits of Frankie’s attendance at the Early Intervention Unit and day care over the last 12 months, have been an extremely beneficial step in her school readiness program, social interaction with others and her overall development. With additional assistance through speech and occupational therapy sessions, Frankie has come a long way in the last 12 months.
For the family, living with a rare disease (and in particular Acrodysostosis) is like living with Pandora’s box, with consistent medical, behavioural and social challenges. Learning to accept reality, the family’s rare life has had its times of sadness, confusion, anger, relationship and financial pressures. But Frankie brings so much joy – she is a beautiful, loving little girl with an amazing smile, infectious laugh and bright blue eyes that just sparkle.
“We deal with each thing as it comes,” said Frankie’s mum, Kymie.
“For us, the most important thing is to have a happy, healthy child that we will be giving every opportunity to live her best life. We don’t like to think too far ahead, and we understand that we live with a giant jigsaw puzzle and that we may never find all the pieces, but work with what we have.”
Research into the two genes that cause Acrodysostosis , PRKAR1A gene (type 1) or the PDE4D gene (type 2), is the only way to develop treatments and possibly, a cure.
You can follow Frankie’s journey via her Facebook page.
RVA Partner, Acrodysostosis Support and Research, is currently running a global fundraising campaign to fund a project that will conduct vital research into Acrodysostosis. The organisation’s goal is to raise £62,500 before April 2021 to be eligible for a £250,000 research grant. Donate via Facebook or the website.
Please check the Rare Disease page(s) for related Support Organisation(s)