Francesca’s Story

Our mornings are somewhat different to those of anyone else with 3 children. It’s a rush for all of us, we get up, we eat our breakfast and drink our milk, brush our teeth, wash our face and get ready for school, pack our bags and our lunch boxes, get in the car and put our seat belts on so we can go. The only difference is in my family we have to help Francesca to do these simple daily activities.

At the age of 9 we continue to do everything for Francesca, although she has learned to use the remote control perfectly and uses all our internet bandwidth watching YouTube videos! Specialists diagnosed her with low muscle tone like a child with cerebral palsy but they could not confidently diagnose her condition.

She has a normal MRI brain scan which means she has no brain damage. She also twitches like a person with Chorea (a disease of the nervous system characterized by jerky involuntary movements).

I first noticed Francesca’s condition when she was around 4 months old. She was kind of, I guess floppy, is the best way to describe it. She wasn’t like my two other children at the same age. It was such a shock realizing something is wrong with your beautiful new baby girl. Suddenly I felt as if all my hopes and dreams for Francesca had gone out the window, I was shattered.

We became conscious of the fact that things weren’t improving and that Francesca may not grow up the same way as my other children when she was 19 months.

I remember one day when my son Stefano was 9, he asked me “Mum, when is Francesca going to walk?” I couldn’t tell him the truth and just answered “one day”, hoping that would come true!

Our neurosurgeon told us that if Francesca could sit by herself by the age of 2, she would have a chance at walking. By the age of 2 she could sit unaided, still to this day we are extremely hopeful that one day our little angel will take her first steps.

“An example of her determination and hope is when she demanded that we buy her a skipping rope and then made her grandparents grab each end while her brother held her so they could jump together.”

Over the years Francesca has faced many obstacles and has overcome each one. She has worked hard with her exercises, she has had many treatments, and she has benefited from the faith we have in her and the faith of all who constantly pray for her.

Even though Francesca is wheelchair bound for much of the day, she knows she is an average child that wants to do lots of things. An example of her determination and hope is when she demanded that we buy her a skipping rope and then made her grandparents grab each end while her brother held her so they could jump together.

Francesca attends our local Catholic school with the help of a care assistant and technology. She is doing well.

Francesca has been tested for so many syndromes, over the last 9 years all with negative and inconclusive results.

About 4 years ago her specialist suggested we do a genome sequencing test, but not to expect results very quickly. The biggest challenge for the medical team was interpreting the information. Humans all have 30,000 genes and each gene is composed of 100,000 pieces of information. Trying to find a genetic mutation in this information was a challenging process.

Finally, in March of 2015 she was diagnosed with mutation in the ADCY5 gene.

This is a recently discovered gene mutation and the reports so far show that this is a movement disorder gene usually with early onset Chorea and dystonia.

Although raising a child with a disability is hard and emotionally draining, we are optimistic for a brighter future for Francesca and are happy to find others who share our journey.