The ongoing COVID-19 pandemic has thrown the world into chaos. With over 500,000 dead in the US alone, the impacts of this global health crisis have affected many different facets of life. Some of us have lost family members, employment, or housing, and many nonprofit organizations saw their plans stymied or postponed. However, the Tuberous Sclerosis Alliance, an organization supporting tuberous sclerosis complex patients and research, took action and adapted to the new circumstances. We sat down with the group’s President and CEO Kari Rosbeck to learn more.
About Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a rare genetic disease that causes a variety of symptoms. It is most distinguished by the appearance of non-cancerous tumors, which grow in the brain, lungs, eyes, liver, skin, and other organs. The disease is triggered by mutations affecting the TSC1 or TSC2 genes, which code for proteins that normally suppress the appearance of tumors. Tuberous sclerosis complex can inflict a variety of symptoms, such as intellectual disability, skin changes, disease affecting the lungs or kidneys, behavioral abnormalities, developmental delays, autism, and seizures. The broad systemic impacts of the disease require frequent management and monitoring of tumors; a variety of specialist expertise may be necessary. Outcomes vary, but with good management most patients have a normal life expectancy. Many patients with mild symptoms remain undiagnosed. To learn more about tuberous sclerosis complex, click here.
Responding to COVID-19
Around a year ago as it became more and more clear that the COVID-19 pandemic could wind up being a serious problem, the group believed it would only need to delay its spring activities and re-schedule them for later that year in the fall instead. Unfortunately the pandemic would not be close to letting up by then. However, Kari and the remainder of the Tuberous Sclerosis Alliance leadership soon realized the TSC community was concerned and needed to be informed about what to expect as the pandemic lockdown took hold. The organization added a COVID-19 page to its website that included FAQs and specific guidelines regarding tuberous sclerosis complex treatment.
The organization also conducted a webinar series over 11 weeks that addressed a wide range of topics related to the pandemic, such as learning and working from home, managing mental health, and applying for unemployment insurance. They also collaborated with other groups to hold larger virtual town-hall style meetings. The Tuberous Sclerosis Alliance also started a COVID-19 study using its natural history database:
“We wanted to figure out if immunosuppressants caused a worse COVID-19 course. How was our community impacted? This study continues today and we collected blood from participants using our mobile phlebotomy program.” – Kari Rosbeck
Facing long-term delays for many of its critical fundraising and community-building events, the organization strategized on a new campaign called #TSCstrong, which began in May 2020, which is also Tuberous Sclerosis Complex Awareness Month. Participants recorded videos about the impact of the organization along with fundraising. This effort helped keep the TSC community from losing touch.
The group also played its part in keeping research from shutting down. This meant keeping funding flowing for lab techs and scientists, and the Tuberous Sclerosis Alliance awarded four research grants during 2020.
Kari says it’s early in our study but so far TSC patients don’t appear to be more at risk of contracting COVID-19 than the general public, and some of the treatments used for tuberous sclerosis complex, such as mTOR inhibitors, have actually been tested in COVID-19 to tamp down its severe effects, such as cytokine storm. For 2021, with the pandemic still continuing, the organization is planning for another virtual, online year, including a 28-part webinar series. Clearly the challenges of COVID-19 haven’t prevented the Tuberous Sclerosis Alliance from centering their patients and spearheading valuable new research.