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 ongoing conversations with your healthcare team on what to expect. Explore the following sections to learn more.

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 six (6) FDA approved treatments in the United States available for some aspects of the disease or related conditions. These approved options are Afinitor® (everolimus), Rapamune® and Hyftor® (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.

Where do I go?

It is common for medical providers to be unfamiliar with TSC, including neurologists, and primary care providers (PCPs). It is crucial to have local healthcare team involvement in your care team. Finding a good fit is essential as these healthcare team members will be your expert and along with you as your biggest advocate as you start your TSC journey. Connecting with a local or out-of-state TSC clinic to help guide clinical treatment options is appropriate. If you do not have access to a local TSC clinic, you can also make an appointment with an adult or pediatric neurologist experienced in epilepsy. Many of our TSC experts can offer provider-to-provider recommendations and our Support Navigators can assist with this process.

Insurance coverage can also be a factor in ensuring you do not experience delayed intervention and care. It is important to consider if out-of-state healthcare is right for you. For those who are considering traveling across state lines, please go to the insurance barriers page in the Medical Challenges section to learn more on how to proactively prevent issues from occurring. You can locate a TSC clinic here.

Tips from adults

Along your journey, it is helpful to know you are not alone. Despite this being a very difficult time, the TSC community has compiled helpful resources to guide you during this phase. These tips and guides may not answer all your questions, our TSC Support Navigators are available to help guide you at any time.

Making appointments with multiple providers can be exhausting and it can be tough to predict how to prepare for new consultations to ensure that the appointment is successful. Learn more on How to Have a Successful Appointment and Prescription Management.

As this is the first phase of your journey, there are many laboratory and diagnostic tests that will be mentioned along the way. Having an understanding will help you feel more empowered and confident as you have open conversations with your healthcare team. Knowing what to expect and when to proactively assess a situation is critical with this diagnosis. Building a solid foundation now will make a huge difference during your journey. Learn more here on Understanding Medication and Testing.

When you are ready, learning about common TSC manifestations during adulthood is a helpful guide to proactively give insight on what to look out for during the next phases of the journey. Learn more on our website on Signs and Symptoms of TSC

Discussing a new diagnosis with your family is also a process that can be challenging during this phase. Each situation is unique and disclosing personal information with friends and family should occur only when you are ready to have that discussion. This part can be difficult, so here is a letter you can share with friends and family to help explain the diagnosis when you might not have yet found the words to say. If you are considering starting a family or already have a family here is helpful information regarding Reproductive Decision Making and TSC.

This journey can feel lonely at times but connecting with another family that has navigated these steps before you can make all the difference. To gain my insight on caregiver selfcare please go to caregiver mental health under the resource section. Click here to learn ways on how you can connect with the TSC community or reach out to our Support Navigators for assistance.

Where do I start?

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 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. To learn more about the type of Specialists You May Encounter to gain more insight in navigating your journey.

Reviewed by Ashley Pounders, MSN, FNP-C, November 2023.

Thank you to our TSC Navigator supporters:

Northstar Sponsors

  • Jazz Pharmaceuticals 
  • UCB, Inspired by patients. Driven by science.

Cardinal Sponsors

  • Neurelis
  • Nobel Pharma

Directional Sponsor

  • Noema