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. Explore the following sections to learn more.

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 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 pediatricians. It is crucial to have a local neurologist and pediatrician involved in your child’s healthcare team. Finding a good fit is essential as these care team members will be your child’s expert and, along with you, be your biggest advocate as you start your TSC journey. As a parent you want nothing less than the best and 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 a 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 your child does not have delayed intervention and care. It is important to consider if out of state healthcare is right for your family. For those who are considering traveling across state lines, please go to the medical access issues page in the Pharmacy resources section to learn more on how to proactively prevent issues from occurring. You can locate a TSC clinic here.

Tips from parents

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 and our TSC Support Navigators are available to help 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 childhood 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.

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 more 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?

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.

Reviewed by Ashley Pounders, MSN, FNP-C, Director of Medical Affairs, TSC Alliance, November 2023.

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