When a child is diagnosed with tuberous sclerosis complex (TSC)—a genetic disorder that can affect multiple organs and cause seizures, developmental delays, and autism—families suddenly find themselves navigating a complex and often overwhelming healthcare system. A recent study by researchers gives voice to these families’ experiences, revealing both the challenges they face and opportunities to improve care.
The research team interviewed 20 mothers of young children with TSC to understand their diagnostic journey. What they found was a healthcare system that, while well-intentioned, often leaves families struggling to find the right specialists, access critical therapies, and understand their child’s developmental needs.
The Information Gap
Despite receiving initial guidance from doctors, nearly all parents turned to online research to learn about TSC. The TSC Alliance website emerged as families’ most trusted resource, while Facebook groups provided crucial peer support. This pattern reveals an important gap: families need more comprehensive information and guidance from their medical teams at the time of diagnosis.
Racing Against Time 
Perhaps most concerning, many families experienced significant delays—sometimes over a year—in connecting with TSC specialists. One mother’s words capture the heartbreak of these delays: “It almost makes me angry that we lost a year of development. If we would have known in the beginning he had infantile spasms, his life would have been different.” For conditions like TSC where early intervention can significantly impact outcomes, every month matters.
Geographic barriers compound these challenges. Some families traveled out-of-state at their own expense to reach specialized TSC clinics, highlighting the unequal access to expert care.
The TAND Puzzle
A major source of frustration for families was confusion around TSC-Associated Neuropsychiatric Disorders (TAND), including autism. Medical providers often attributed developmental concerns to TSC itself rather than recognizing them as separate conditions requiring specific interventions. This led to delayed diagnoses and missed opportunities for evidence-based therapies like Applied Behavior Analysis (ABA), which families reported made significant differences when finally accessed.
The Therapy Maze
Even when families understood what services their children needed, accessing them proved difficult. Long waitlists, restrictive eligibility criteria, and insurance coverage gaps created formidable barriers. The situation was so challenging that some parents became licensed ABA providers themselves just to ensure their children received services. Adding insult to injury, some insurance companies denied autism services simply because a TSC diagnosis was also present.
Seizures: The Constant Concern
Seizures typically prompted the initial TSC diagnosis and remained a top worry for families. Uncontrolled seizures didn’t just pose immediate health risks—they affected development, caused fatigue and irritability, and resulted in missed therapy sessions and school days, creating a cascade of challenges.
A Path Forward
The research points to clear solutions. Healthcare systems need to facilitate faster connections with TSC specialists, implement coordinated care teams that communicate effectively, and ensure all children with TSC receive early intervention services immediately—not after delays become apparent. Providers need better training on TAND and should routinely screen for developmental concerns rather than dismissing parental worries.
For newly diagnosed families, the message is equally clear: educate yourself, connect with the TSC Alliance, seek expert opinions early, and don’t hesitate to advocate persistently for your child’s needs.
This research matters because it transforms families’ lived experiences into actionable recommendations, offering a roadmap for improving care for children with TSC and supporting the families who love them.
Senior Researcher: Shafali Jeste, MD, Chair, Department of Pediatrics, UCLA David Geffen School of Medicine, Los Angeles, California.
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