Beginning Your Journey

In Utero Diagnosis

Receiving an in utero diagnosis of a rare genetic disease is overwhelming. Depending on the findings, it is important to have ongoing conversations with your healthcare team on what to expect. The most common manifestation in utero are irregular growths in heart tissue, known as cardiac rhabdomyoma. These are benign (non-cancerous) and usually get smaller on their own as the child ages.  Rhabdomyomas do not typically require intervention beyond monitoring – they cause issues very rarely. Proper follow up with your healthcare team will be essential. During the pregnancy, you most likely will be followed by your OB-GYN and other specialists such as a Maternal-Fetal Medicine (MFM) provider or a genetic counselor.

It is also important that you connect with a local pediatrician prior to delivery to discuss the disease and ensure that the pediatrician is going to be the best fit for you and your baby. It is common for medical providers to be unfamiliar with TSC; however, your pediatrician will be your child’s expert and, along with you, be your biggest advocate as you start your TSC journey. Finding a good fit is essential.

Another important step is to connect with the nearest TSC clinic during pregnancy to prepare and plan for any baseline testing shortly after birth. Many clinics offer telehealth options, which might include a parent counseling session. You can locate a TSC clinic here. 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 TSC Support Navigators can assist with this process.

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.