Timothy Syndrome and related conditions- Family Day
21 January 2020
On 7 December 2019, the Neuroscience and Mental Health Research Institute hosted the first Timothy Syndrome Family Day and the launch of Timothy Syndrome Alliance UK.
Timothy Syndrome is named after genetic researcher, Katherine Timothy, it is a rare multi system disorder characterized by cardiac, hand/foot, facial and neurodevelopmental features. Timothy Syndrome is diagnosed by clinical features and by the presence of a pathogenic variant in the gene CACNA1C.
The day was a huge success and featured talks from international researchers and clinicians working with Timothy Syndrome and CACNA1C variants, including Katherine Timothy herself. It offered families from across the world, an opportunity to come together and share their experiences.
Katherine Timothy opened her talk with a teary and emotional introduction thanking the families for coming and honoring the parents of the children affected by the syndrome, for their commitment and hard work. The talk provided a comprehensive overview of the syndrome, it's history, all of its symptoms and manifestations and included plenty of helpful advice.
Katherine was followed with presentations from expert neurologists and cardiologists working at Cardiff University, and included round table workshops which gave families an opportunity to talk one on one with researchers and ask any questions they might have.
The day concluded with a message of hope to continue running this event more regularly moving forward, with the next proposed date in 2021.
The Timothy Syndrome Alliance's mission is to support families through education, shared experience and research. Creating awareness on all aspects of Timothy Syndrome among the general public, medical and research communities.
They have a support group you can find here: https://www.facebook.com/groups/295072683941350/