Meet our Patient Group Engagement Committee member: Francesca!

Why/how did you become involved in rare diseases?

In 2016, I joined the IMAGINE ID research project as their study coordinator. The study was examining the long-term mental health outcomes for individuals with intellectual disability who had a diagnosed genetic cause. This diagnosis was often very rare and sometimes completely unique to that individual. After helping coordinate and recruit 3,500 individuals from across the world into the study, I then joined Unique in 2019. Unique is a charity helping families, professionals and the public understand rare chromosome and gene disorders. Throughout my professional life, I have been involved in healthcare and empowering people with information so that they are able to make informed choices about what is best for them, their children and their families. This is what brought me to studying for an MSc in Genetic and Genomic Counselling. During my training and the height of the Covid-19 pandemic, I was also diagnosed with my own rare disease after a rare tumour, a ‘solitary fibrous tumour’ categorised under the sarcoma cancer team, was found in my abdominal wall. This personal experience has highlighted to me the importance of information sharing, patient support groups and raising the profile of rare diseases with a range of healthcare professionals.

Why did you choose to join our Patient Group Engagement Committee?

I chose to join the Findacure Patient Group Engagement Committee as I am keen to ensure the voices of those individuals and families affected by rare diseases are heard, particularly those that I am encountering in my day-to-day work as an Information and Family Support Officer for Unique across the globe. My varied professional experience with rare diseases in a research, clinical and charitable context brings a different perspective to challenges within the rare disease field. I hope to be able to provide some insight into how these different challenges can be solved or mitigated. As well as my recent personal experience of having a rare disease diagnosed later in life during a global pandemic, and how services have been impacted during this time. Joining the committee was also an exciting opportunity to be involved with more of Findacure’s growing work streams, and meet and learn from passionate and motivated people involved in a variety of rare diseases.