‘We've made the best of it. But we do not have a normal life’: families' experiences of tuberous sclerosis complex and seizure management

Abstract

Background Tuberous sclerosis complex (TSC) is a complex multisystem genetic disorder. Approximately 84% of people with TSC have epilepsy. However, there is little literature available regarding families' experiences with TSC and seizure management. Therefore, the aim of the current study was to explore families' positive and negative experiences, and attitudes towards TSC, epilepsy and medical management of seizures. Methods Framework analysis informed an open exploration of families' experiences with TSC, epilepsy and medical management of seizures. Using structured interviews, 11 parents of people with TSC and 2 people with TSC were interviewed, providing the data set for transcription and thematic analysis. Results ‘TSC rules our life’ overarched three subordinate themes: ‘Our normal’, ‘Burnout’ and ‘Seizure management has given us our life back’. Families had to adapt to the normality of needing to constantly supervise their child even as they become an adult. They express a feeling of fear particularly of seizures, and this has impact throughout the family. There are frequent expressions of exhaustion and struggling to fight for access and support. There are some positives and cautious hope with the gaining of control from seizures as being able to predict or plan improves activity and participation. These interviews provided a rich insight into the lives of those with TSC and their families. Conclusion There are exciting developments with respect to scientific understanding of the pathophysiology of TSC, which opens opportunity for new treatments. Holistic family centred health care and practical support (e.g. opportunities for parental respite) is as important as medical intervention. As TSC is such a complex condition, there is a need for specialist clinics and TSC‐specific research.

Patient and Caregiver Health State Utilities in Tuberous Sclerosis Complex

“…Patients who have TSC with epilepsy have been found to have a significantly lower HRQL than those without epilepsy [ 45 ]. Burdensome after-effects of seizures included disrupted learning ability, fatigue, hemiplegia, and inability to communicate, eat, sleep, or relax for up to 24 h after an episode [ 46 ]. Patients reported frustration with their lack of independence due to their risk of seizures [ 46 ].…”

“…Burdensome after-effects of seizures included disrupted learning ability, fatigue, hemiplegia, and inability to communicate, eat, sleep, or relax for up to 24 h after an episode [ 46 ]. Patients reported frustration with their lack of independence due to their risk of seizures [ 46 ]. Another study has found that adult patients with TSC reported a loss of work productivity because of their condition [ 47 ].…”

“…Caregivers have reported fearing their unknown future, and the disease becoming increasingly unsustainable over time [ 42 , 55 ]. Caregivers have additionally voiced their anxiety over having to navigate through medical emergencies, the appearance of new symptoms, repeated surgeries, and severe side effects of therapies [ 46 , 55 ]. Patients’ facial angiofibromas may intensify caregivers’ worries and worsen perceived stigma of the disease [ 43 , 44 ].…”

“…Another study found parent-reported reduced seizure frequency to be associated with improved family functioning and reduced time in managing the epilepsy of patients with TSC [ 53 ]. When seizure frequency and severity were reduced in patients with TSC, their parents reported more time for respite and family activities and less time needed to monitor the patient [ 46 ].…”

“…impacts and comorbidities associated with tumours affecting the brain, eyes, and skin). Vignettes represented a simplification of individuals’ experiences with the disorder, which can vary greatly across patients with TSC and their caregivers [ 46 ]. Findings from the study should therefore be interpreted in light of this limitation of the TTO vignette valuation method.…”