Beginning Your Journey

What are my options

Treatment options directly depend on the manifestation, such as the type of seizure or the organ system that is causing an issue. If your child presented with seizures, the most critical priority is gaining seizure control. All efforts should be made to reduce the total number of daily seizures. Not all individuals with TSC have the same form of seizures, so one medication does not work for all. One specific type of seizure called infantile spasms (IS) is very serious and is a medical emergency.  They most commonly occur between 4 and 7 months, but can start any time in the first few years of life. To find more resources on IS please visit the infantile spasms action network.

As a parent, maintaining an open line of communication with your healthcare team is essential. Keeping a journal or using a smartphone app to log seizure frequency and length is very important. It is also very helpful to take a video of your child experiencing any suspicious movements or behaviors to show your healthcare team which might help them identify seizures.

Other treatment options to consider are to address high blood pressure (hypertension) or proteinuria (protein in urine), which can be common to individuals who experience renal (kidney) involvement. If your child has 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.

Advances in research continue to deliver new and improved therapeutic options. There are four FDA approved drugs with a TSC specific indication, but there are also approved treatments for manifestations of TSC, like seizures, that many TSC individuals rely on. 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.