Beginning Your Journey

Where do I start

Receiving a diagnosis of a rare genetic disease as an adult can be confusing and overwhelming.

Depending on the findings, it is important to have on going conversations with your healthcare team on what to expect. In adulthood this can be by an incidental finding (meaning it was found by looking for something else) or an abrupt finding (such as a renal hemorrhage) which can be even more overwhelming to process.

Regardless of the presenting feature, once a diagnosis has been made or suspected it is important for you to undergo a thorough evaluation.

Key factors to evaluate for a new diagnosis are outlined in here(new PDF that Bill created). 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. To learn more about the type of specialists who should be involved and when click here (algorithm of who and when).