Chair of Trustees, Timothy Syndrome Alliance (TSA)
‘Patient Group and Industry Partnering’
Bio: Following a long diagnostic odyssey in 2016 the DDD Study confirmed a genetic change in my middle son Calvin, now 14, subsequently confirmed by the 100,000 Genomes Project in 2019. It quickly became clear that if awareness of this CACNA1C gene did not increase, we were unlikely to be the subject of any research that would give us answers. I registered TSA as a Charitable Incorporated Organisation in September 2019. Our mission is to improve the diagnosis, treatment, and care of children with Timothy Syndrome and all other deleterious CACNA1C gene changes, and to support the families of those diagnosed.
Find out more about the Timothy Syndrome Alliance by visiting their website.
I can only speak of the last two years since registering the charity but the journey has been exhilarating. The rare disease world is filled with an amazingly strong and resilient community where the willingness to help and support each other is remarkable. I’ve known nothing like it. We are strengthened by our similar journeys and same goals.
Q: How has your work impacted rare disease progress over the last 5 years?
We are another voice among many representing and raising awareness of rare disease. This year we made a film to highlight how rare communities are stronger together and introduced Timothy Syndrome as one of the 7000 rare diseases. The film illuminates Rare Disease Day, observed across the globe on the last day of February each year, dedicated to raising awareness for people living with a rare disease.
The aim of the film and Rare Disease Day is to improve knowledge amongst the general public of rare diseases while encouraging researchers and decision-makers to address the needs of those living with rare disease. This last year COVID-19 has given the rest of the world a glimpse of the rare disease way of life. See the film here: https://youtu.be/HuL9maimoLo
Q: What next? What do you want to see happen or change in the next 5 years that will have the most impact on diagnostics, care or treatment for those affected by rare conditions?
I’d like to see pathways and higher-level acknowledgment of how charities and individuals with identified disorders can contribute to research. That research then needs to translate into changes in understanding and impact on public and clinical policy. Generating greater awareness of identified disorders will assist in changing clinical practice to identify further individuals in the general population, enabling them to receive support.