Beginning Your Journey

Where Do I Start?

Receiving a diagnosis of a rare genetic disease for your child is overwhelming. Depending on the findings, it is important to have on-going conversations with your healthcare team on what to expect. Often, a TSC diagnosis can be sudden which can be even more overwhelming to process – there can be an immense amount of testing and specialist visits to coordinate all at once, which might feel like trying to drink from a firehose.

Other times, TSC might be suspected, which can lead to further evaluation after a non-threatening feature like a skin spot (such as an as “ash leaf” or a Shagreen patch) is identified. Regardless of the presenting feature, once a diagnosis has been made or suspected it is important for your child to undergo a thorough evaluation. Sometimes it might be appropriate to hold off on a thorough TSC-specific evaluation until any acute symptoms are stabilized. For example, if your child is experiencing infantile spasms, it might make sense to get those under control before doing an extensive dermatological exam.

Key factors to evaluate for a new diagnosis are outlined in 2021 Updated Diagnostic Criteria These recommendations are published under the title “Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations” in the peer-reviewed medical journal Pediatric Neurology.

TSC is unique, and every journey starts differently. Here is a New Diagnosis Flowchart to glance at how your journey might start. To learn more about the type of Specialists You May Encounter to gain more insight in navigating your journey.