We traveled to São Paulo as part of our ongoing Timothy syndrome research collaboration in Brazil, attending the Brazilian Epilepsy Association’s second annual research and family conference. This photo is from a panel we participated in titled “Symptom Research, Case Descriptions, and the Natural History of Disease: How Do They Help the Patient, and How Far Do They Go?” It was an important opportunity to share what we’re learning about CACNA1C-related disorders and hear from clinicians who are working directly with rare epilepsy families across Brazil.
While in São Paulo, we met with Dr. Daniela Bezerra, director of the Brazilian Epilepsy Association, along with several leading pediatric neurologists. Together, we discussed strategies for studying ultra-rare genetic conditions and ways to improve research collaboration between Brazil and the global TS community.
One of our TS parents, Julia, coordinated family meetups in different regions of Brazil. In São Paulo, we were able to meet four families affected by Timothy Syndrome. We shared resources, swapped stories, and learned new ways we may be able to support TS families around the world. Most importantly, parents had the chance to connect with one another and build community—something that is invaluable when navigating a rare diagnosis.
From there, we traveled to Porto Alegre in southern Brazil, where we were welcomed by Casa dos Raros, a hospital dedicated exclusively to patients with rare disorders. Their multidisciplinary team—including physicians, dentists, physical therapists, speech therapists, and others—works to shorten the diagnostic odyssey and provide comprehensive care while supporting research for rare disease patients across the country.
At Casa dos Raros, we presented to a mixed audience of patients, caregivers, physicians, nurses, and research staff. We shared updates on CACNA1C science, emerging research priorities, and TSF’s global advocacy efforts.
Julia again coordinated a family meetup for all TS families living in the southern region. In Porto Alegre, we were able to meet two more families and continue strengthening our network of support in Brazil.
This trip deepened our relationships with clinicians, researchers, and families across Brazil—and reinforced just how important global collaboration is for advancing research and improving care for Timothy Syndrome and CACNA1C-related disorders. Learn more about the Timothy Syndrome Foundation and our mission here: https://timothysyndromefoundation.org/about/
