Service Delivery

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

McDonald et al. (2019) · Journal of intellectual disability research : JIDR 2019
★ The Verdict

Parents of kids with TSC need sleep, respite, and one trusted team more than another medication tweak.

✓ Read this if BCBAs who see children with TSC or other seizure disorders in home or clinic.
✗ Skip if Practitioners who work only with adults or with clients who have no epilepsy.

01Research in Context

01

What this study did

The team talked with families who live with tuberous sclerosis complex. They asked how daily seizures shape life at home.

Parents told stories of sleep loss, fear, and small wins when medicines worked. The study lets their voices speak for themselves.

02

What they found

Families feel they are always on call. One quiet night is rare, and a single seizure can wreck plans for days.

When seizures stay quiet for weeks, parents breathe again. They still ask for one-stop clinics and respite, not just more pills.

03

How this fits with other research

Moser et al. (2025) talked to parents of toddlers with TSC. They heard the same plea: 'Find us doctors who know TSC.' Together the two papers show the need starts early and never fades.

Ten Hoopen et al. (2025) listed fifteen walls that block respite care. Their list matches every barrier named here: wait lists, rules, and fear of leaving a child who may seize.

Lane et al. (1984) told one boy’s story: early seizure control plus therapy let him catch up. That old case gives hope, but today’s parents still fight for the same fast, joined-up care.

04

Why it matters

If you serve a child with TSC, look past the EEG. Ask the parent when they last slept through the night. Hand them a respite form along with the prescription. Link them to a TSC clinic and a local parent group. One phone call can cut their exhaustion more than a new drug.

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Add a TSC clinic and a respite agency to your referral sheet, and hand it to every TSC family this week.

02At a glance

Intervention
not applicable
Design
qualitative
Sample size
13
Population
other
Finding
not reported

03Original 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.

Journal of intellectual disability research : JIDR, 2019 · doi:10.1111/jir.12609