Dr. Francesca Sofia is the chief scientific officer of the Italian Epilepsy Foundation. Dr. Sofia has a daughter with treatment resistant epilepsy. We sat down with her to learn more about what motivates her and the challenges that she wants to tackle in the community.
What is your personal connection to epilepsy?
When my youngest daughter Beatrice was 20 months old, she had her first seizure. She started spinning around in the doorway. I looked at her, and although her body was there, I could see that her mind was not. Several days later in the hospital, after multiple tests and exams, she was diagnosed with focal epilepsy.
Beatrice is now 10 years old and over the years her condition has changed, becoming more and more complex. She is resistant to all possible medications and has developed multiple seizure types including tonic-clonic seizures. Her cognitive development has been impacted and her speech has not developed normally. She has also developed a skin disorder that might be related to the drugs she has to take, although we cannot say this for certain.
What do you want to change?
When I think about people with epilepsy, there are so many things that need to change.
The fact that we, in 2019, still have to deal with the stigma of epilepsy is unacceptable.
If I had to choose just one thing, it would be our ability to manage the disease in everyday life. We need innovative, reliable and effective tools and support systems to bring the families out of a constant state of fear. Because this is what we experience every day.
I have a lively and joyful daughter who wants to run, climb trees, go to the swimming pool, and participate in normal activities for young girls like her. But some of those things are either impossible or possible only with one or two experienced people always by her side. I know most epilepsy families live like that, devoting their sleeping time to caring for their kids. We must find better ways to ensure a normal life for persons with epilepsy.
How do you use your talents to tackle the issues your daughter face?
My story has been linked to epilepsy since before I was even aware of it. As a PhD student in molecular biology, I was involved in a study that led to the identification of the connection between the Emx1 gene and epilepsy. After my dissertation, I got a master’s degree in international healthcare economics, policy and management, which led me to work as a research program manager with a major Italian charity, the Telethon Foundation, focusing on rare genetic disease. Those were very exciting years for the foundation because important breakthroughs were being achieved in the field of gene therapy for rare diseases.
With my daughter’s diagnosis, my immediate reaction was to push for a cure. I had the background and the professional tools to make that happen. This is how I became an epilepsy advocate. Soon after that, I was appointed by the Italian Epilepsy Federation to help them develop a program focused on the genetic bases of the disease through genotyping of children with epilepsy.
Knowledge is power and right now we are powerless.
Is there anything you would like to add?
I believe that what really drives progress today is not only the quality of the science but, most of all, the power of a whole community who believes that changes can be made. At the basis of the most rapidly advancing research fields, there is a shared vision among all stakeholders. We need, now more than ever, to reinforce this idea in our community through education and engagement efforts.