Beginning Your Journey

What are my options

Treatment options directly depend on the manifestation or the organ system that is causing an issue. Adulthood diagnosis of TSC typically presents much differently than childhood, therefore treatment management is usually associated with a chronic issue that you may or may not have had an explanation of prior to the diagnosis. Often, people describe mixed emotions of relief and concern during this process. Regardless of how your journey started, maintaining an open line of communication with your healthcare team is essential.

Treatment options in this life stage typically focus on kidney, lung, and psychological (anxiety, depression, memory) management. Even though it is uncommon to develop seizures during this life stage, there are many treatment options for TSC-related seizures. Other treatment options focus on high blood pressure (hypertension) or proteinuria (protein in urine) management. This is common in those with renal involvement. If you have been diagnosed with continuous gene syndrome, also known as TSC-Polycystic Kidney Disease (PKD), vigilant blood pressure control and urinalysis is important to observe and maintain kidney function over time. There are many options for blood pressure and proteinuria management.

Lung involvement is also another adult-specific diagnosis. The associated disease, lymphangioleiomyomatosis (LAM), typically presents in post-pubescent women (it has only rarely been observed in men).

Advances in research continue to deliver new and improved therapeutic options. There are now four (4) FDA approved treatments in the United States available for some aspects of the disease and related conditions. These approved options are Afinitor® (everolimus), Rapamune® (sirolimus), Sabril® and Vigadrone® (vigabatrin), Epidiolex® (cannabidiol).

After allowing time to process the initial diagnosis of TSC, you can start navigating options with your treatment goals with your healthcare team. Understanding all your treatment options at every stage of your journey is essential. Depending on your diagnosis, a clinical trial may be an option. Our Support Navigators can help you identify treatment options and clinical trials that may be right for you.