Updated: Oct 9, 2018
Our daughter Francesca, who we affectionately refer to as Frankie, was diagnosed with Acrodysostosis Type 2 on August 9 2015 when just eight months of age.
The pregnancy was uncomplicated, but there was a indication of a high nuchal fold at 11 weeks gestation. We went on to do a CVS at 13 weeks which came back clear of any abnormality and had several scans in the pregnancy to ensure there was no further complications with her.
Frankie was delivered at 38 weeks and had a forceps delivery on January 13 2015. She was small but of average weight and length. Development was normal in the first six months but she did have low nasal bridge, which we were told was likely cosmetic due to her passing the testing and scans.
Due her low bridge we got referred to ENT to ensure Frankie didn’t have any complications with breathing and getting infections. From there he suggested the Craniofacial unit at the Sydney Children’s Hospital to see a group of plastic surgeons and other medical specialist for children with facial abnormalities.
As part of the group we met a geneticist, who noticed Frankie’s hands and feet were different. He suggested she might have a syndrome or condition and recommended a
skeletal survey to look at her bones and the way they were shaped.
I think we felt our entire world collapse on that day. The thought of anything wrong with our beloved and most precious baby was incomprehensible.
Several weeks later we received the news Frankie had something called Acrodysostosis. She was the only person in Australia and only 1 of 70 people diagnosed worldwide, and our journey began.
We found little or no help from any medical professionals or research to assist in understanding Acrodysostosis or how to treat it.
We went in to create the Acrodysostosis Support Group page in September 2015 on Facebook, and currently have connected more than 50 families across the globe.
Frankie is currently three and a half. She has developmental delays, which mainly affects her ability to speak and construct sentences. Due to a large head which is disproportionate to the rest of her body and coupled with small feet, Frankie finds it difficult to balance when running or walking fast.
She has some issues with fine motor skills because of her small hands, so some activities can be difficult.
Overall Frankie’s cognitive understanding is very good, as unlike some of her Acrodysostosis peers, she does not have hearing or vision problems.
Frankie has lactose and dairy intolerance, and this impacts her diet. She also has low muscle tone in her mouth, and some sensory issues with certain foods and textures.
We attend Craniofacial at Sydney Children’s Hospital in Randwick each year, and have regular visits with our Paediatrician, Neurologist, ENT and other specialist as required.
Overall Frankie is a healthy, bright, happy child and enjoys day-care with her friends. She loves music, dancing, colouring, painting, puzzles and books. She recently became a big sister to Georgia.
We are very proud of how far Frankie has come, she continues to inspire us to be better human beings.
Frankie has her own Facebook page Little Frankie BIG World if you would like to follow her journey!