In light of Tuberous Sclerosis Complex (TSC) Awareness Month throughout May, Kari Rosbeck, president and CEO, TSC Alliance, highlights what has been done to advance TSC research and how the organization is improving the diagnosis journey, access to care, and support for families.
With rare diseases, increasing awareness is critical. Parents and caregivers need to be empowered to recognize symptoms, have the tools to advocate for their loved ones, and have access to a supportive community. Providers need resources and education to shorten the time to diagnosis and intervention. More awareness comes with so many more victories. More diagnosis. More research. More funding. More education, resources, and hope.
That’s why May—Tuberous Sclerosis Complex (TSC) Awareness Month—is critical. When we bring light to something rare, we eliminate the barriers parents and caregivers, as well as providers, face when trying to improve the lives of those living with TSC and their families. Through advocacy and partnerships, the TSC Alliance has built a community for this genetic disease that impacts one million people worldwide and causes tumors to form in many different organs, primarily in the brain, eyes, heart, kidney, skin, and lungs. We have highlighted the aspects of TSC that most strongly impact the quality of life, such as seizures, developmental delay, intellectual disability, and autism. We’ve also done the nuanced work to explain no two cases of TSC are the same and that it impacts each person differently. TSC Alliance resources are available to families, individuals, and providers for more information.
This year, the TSC Alliance and Tuberous Sclerosis Complex International (TSCi) will cohost the 2022 World TSC Conference from July 28-31, in Dallas, TX, with both in-person and hybrid options to attend. The conference will bring together 1000+ participants from around the globe, including families and individuals with TSC, caregivers, healthcare professionals, researchers, a wide array of exhibitors, and others to share the latest and most comprehensive TSC diagnosis, treatment, and research information from the world’s leading TSC clinicians and scientists. It also provides an excellent venue for making lifelong friendships with others affected by TSC and their loved ones.
Providing education and advocacy for patients and families today is of the utmost importance, but so is looking forward to a cure and new treatments. The TSC Alliance’s hope is that grants and funding and investing in early-career researchers will drive innovation toward TSC research and foster a diverse group of researchers dedicated to a shared mission. Our 2022 grant cycle is currently open and offers research grants as well as post-doctoral fellowships. We also make available research resources, such as biosamples tied to our Natural History Database, to further research.
For families currently navigating the complexities of a TSC diagnosis, we recently created the TSC Navigator to improve access to care and shorten the journey of diagnosis. We have also helped spread the word about updated clinical consensus guidelines released in 2021, which have become the gold standard for early surveillance and intervention.
I’m incredibly proud to be part of this organization that works tirelessly every day to impact the lives of people with TSC. If you are a physician, we invite you to take time during this awareness month to learn more about our continuing education opportunities. If you are a caregiver or a patient, please use our free resources and join us in our advocacy efforts this month by spreading the word about TSC.
Find out more on the extensive website at tscalliance.org.