The understanding of TSC has improved dramatically over the span of my career. Historically, TSC was conceptualized simply as meaning the following 3 things for patients: intellectual disability, intractable seizures, and benign growths on their faces (ie, facial angiofibromas). We now know that only approximately one-third of patients with TSC have this classic triad of symptoms and that the majority have a normal or near-normal IQ. Nonetheless, TSC is very heterogeneous and can be associated with significant emotional, physical, and financial burden. 

There is a wide range of possible impacts on QOL in adolescents and adults with TSC. For example, epilepsy is highly prevalent early in life in those with TSC, and early aggressive seizure control in these individuals is essential to prevent epileptic encephalopathy. There can be substantial physical impairment in some cases, and certain patients may require complete care in terms of feeding and hygiene as a result of their uncontrolled seizures and/or the severity of their brain involvement. In other cases, however, adults may function so well that they did not even know that they had TSC until their child was diagnosed and they were tested at that time. 

We see in work from O’Callaghan and colleagues that, among patients with TSC who sought medical care and were followed at the Bath TSC Clinic in the United Kingdom, impairments in QOL were observed regardless of the presence of epilepsy and learning disabilities, with the psychosocial domain being the most affected. TSC can be linked to difficulties with forming social relationships, challenges with executive functions and complex tasks, and autism spectrum disorders. These are the types of things that impact people not only during childhood but also throughout their lives.

When I think of patients who are diagnosed with TSC later in life, something that comes to mind is their level of independence, and key questions are often related to whether they can live independently and how much support they may need. The ability to drive a car often factors prominently into this equation, and the driving laws differ by state. A common requirement for people with epilepsy is that they be seizure free for a specific period of time (eg, up to 6 months) in order to safely drive. 

Most of the doctors who have experience in treating TSC tend to be pediatric specialists and, in many cases, may not work extensively with adults. Therefore, as patients get older, or for those who are diagnosed at an older age, accessing the appropriate care can be even more difficult. The transition of care for patients from pediatric specialists to adult physicians can be challenging, particularly as there are even fewer adult physicians and clinics with expertise in treating TSC. Planning for this should ideally begin several years before transition of care is actually necessary.