Key Points

  • Tuberous sclerosis complex qualifies automatically for NDIS under List A (confirmed genetic diagnosis) and under List D for children under 7; access is straightforward, but planning requires detailed documentation of multi-system impacts
  • TSC affects brain, kidneys, lungs, skin, heart, and eyes; support coordination must interface with multiple specialist teams (neurologist, nephrologist, dermatologist, ophthalmologist) as well as NDIS daily support providers
  • Epilepsy affects approximately 85% of people with TSC; all support workers and family carers must receive seizure management training including rescue medication administration if prescribed
  • Autism spectrum disorder co-occurs in 40 to 60% of people with TSC; behaviour support must integrate TSC-specific neurological factors (pre-ictal and post-ictal behaviour changes) with autism-related strategies
  • mTOR inhibitors (everolimus, sirolimus) are now Medicare-funded for specific TSC manifestations; these are managed by treating specialists, not NDIS
  • Tuberous Sclerosis Australia provides information, peer support, NDIS navigation, and advocacy for families across Australia

Tuberous Sclerosis Complex and Daily Life

Tuberous sclerosis complex (TSC) is a rare genetic condition caused by mutations in the TSC1 or TSC2 gene. These mutations disrupt the mTOR signalling pathway, leading to abnormal cell growth and the formation of benign tumours (hamartomas) across multiple organ systems including the brain, kidneys, lungs, skin, heart, and eyes.

TSC affects approximately 1 in 6,000 people globally. In Australia, Tuberous Sclerosis Australia estimates over 4,000 Australians live with TSC. The condition presents with enormous variability: some people have mild cognitive and neurological impacts and live largely independently, while others have severe epilepsy, profound intellectual disability, and high daily support needs.

Coordinating support for TSC is complex because it simultaneously involves multiple specialist medical teams and daily living support through the NDIS. This guide covers the NDIS pathway, the specialist health team, the daily support provider team, seizure management, and the coordination strategies that make multi-system care manageable.

NDIS Access for TSC

TSC qualifies automatically for NDIS:

  • List A: A confirmed genetic diagnosis (TSC1 or TSC2 mutation) from a clinical geneticist or neurologist provides automatic NDIS access
  • List D: Children under 7 with a confirmed TSC diagnosis are presumed eligible without requiring extensive functional evidence

Once access is confirmed, the planning process determines what supports are included. For TSC, planning should comprehensively document:

  • Neurological impacts (epilepsy frequency and severity, cognitive and intellectual disability level)
  • Autism co-occurrence (if present)
  • Kidney and other organ involvement and associated care needs
  • Communication needs
  • Behaviour support requirements
  • Allied health therapy needs
  • Daily living support needs

A support coordinator with experience in complex health conditions is strongly recommended for TSC, given the number of specialist teams and NDIS supports that need coordination.

The Specialist Health Team

Neurologist or Epileptologist

The neurologist is typically the lead specialist for TSC, managing epilepsy (present in approximately 85% of people with TSC), monitoring for brain changes on MRI, and prescribing and reviewing mTOR inhibitor therapy where indicated.

Key responsibilities:

  • Epilepsy medication management and monitoring
  • Annual or biannual brain MRI to monitor tubers and watch for subependymal giant cell astrocytomas (SEGAs)
  • mTOR inhibitor therapy for SEGAs and where indicated for behaviour or cognitive benefit
  • Coordination with the epilepsy nurse and neuropsychologist

Nephrologist

Kidney angiomyolipomas are present in approximately 80% of adults with TSC. They carry a risk of spontaneous haemorrhage, particularly when larger than 3cm. A nephrologist:

  • Monitors kidney angiomyolipomas with annual or biannual ultrasound or MRI
  • Manages mTOR inhibitor therapy for significant angiomyolipomas
  • Monitors renal function
  • Provides emergency management if haemorrhage occurs

Pulmonologist (LAM Specialist)

Lymphangioleiomyomatosis (LAM) is a lung condition occurring almost exclusively in women with TSC (and also in a sporadic form). It involves cyst formation in the lung tissue, causing progressive breathlessness. Not all women with TSC develop LAM; annual lung function assessment and HRCT scanning from adulthood is recommended. A pulmonologist or LAM specialist manages this aspect.

Dermatologist

TSC causes characteristic skin changes including facial angiofibromas, hypomelanotic macules (ash leaf spots), shagreen patches, and periungual fibromas. Angiofibromas can cause cosmetic distress and bleed from minor trauma. Laser treatments are used for facial angiofibromas. A dermatologist provides review and management.

Ophthalmologist

Retinal astrocytic hamartomas are present in approximately 50% of people with TSC. Regular ophthalmological review monitors for lesion changes.

The NDIS Daily Support Team

Support Coordinator

For TSC, a support coordinator with experience in complex health conditions is one of the most valuable NDIS-funded roles. They:

  • Coordinate communication between the NDIS support team and the specialist medical teams
  • Ensure the NDIS plan addresses all areas of support need
  • Facilitate care conferences that bring health and support providers together
  • Manage plan reviews to adapt supports as the person’s needs change
  • Navigate the interface between NDIS and the health system (for example, when a hospital admission affects existing NDIS services)

Occupational Therapist

An OT for TSC addresses the functional impacts of intellectual disability, autism co-occurrence, epilepsy, and any physical limitations on daily living.

Key areas:

  • Sensory processing: OT with sensory processing expertise addresses sensory sensitivities common in TSC-ASD co-occurrence
  • Daily living skills: Supporting independence in self-care, domestic tasks, and community participation
  • Seizure safety: Home safety assessment identifying risks related to seizure activity (near water, near stairs, near sharp objects)
  • Assistive technology: Prescribing adaptive equipment and AAC where communication is affected
  • Functional capacity assessment: For NDIS applications and plan reviews

Speech Pathologist

For TSC participants with communication difficulties (common when intellectual disability and autism are present):

  • AAC assessment and prescription: Identifying the most appropriate communication system
  • Language development: For children with speech and language delays
  • Swallowing assessment: If swallowing is affected by neurological factors

Behaviour Support Practitioner

Behaviour support in TSC requires a practitioner who understands:

Epilepsy-related behaviour: The period before a seizure (pre-ictal) and after a seizure (post-ictal) often involves significant behaviour changes including agitation, confusion, aggression, or withdrawal. These behaviours are neurologically driven, not deliberate. A behaviour support plan must incorporate seizure timing and post-ictal management.

TSC-ASD behaviour: Where autism co-occurs, behaviour strategies must address ASD-specific factors (sensory sensitivities, rigidity, communication barriers) as well as TSC-specific neurological factors.

mTOR inhibitor effects on behaviour: Some families report improvements in behaviour and cognition with mTOR inhibitor therapy; the BSP should be reviewed if treatment changes occur.

Epilepsy Nurse

Where available through the treating hospital’s epilepsy service, an epilepsy nurse provides:

  • Education for families and support workers on seizure recognition, first aid, and rescue medication
  • Seizure diary review and advice
  • Liaison between the family and the neurologist for medication adjustments
  • Crisis planning for prolonged or unusual seizures

Seizure Management for Support Workers

All support workers and family carers of a person with TSC-related epilepsy must receive seizure management training before working independently.

Training topics:

  1. Recognising the specific seizure types the person experiences (seizures present differently depending on which brain region is affected; TSC seizures are often focal)
  2. Basic seizure first aid (time the seizure, protect from injury, do not restrain, do not put anything in the mouth, place in recovery position after tonic-clonic seizure)
  3. When to call 000 (seizure lasting more than 5 minutes, second seizure without recovery, injury, difficulty breathing, or prolonged confusion after seizure)
  4. Rescue medication administration if prescribed (buccal midazolam or intranasal diazepam)
  5. Seizure diary recording (date, time, duration, type, recovery period, any triggers)

Training should be provided by the epilepsy nurse or treating neurologist’s team, documented, and refreshed regularly. New support workers must complete training before starting.

Multi-Organ Monitoring: A Family Summary

Managing TSC requires regular monitoring across multiple organ systems. A practical monitoring schedule summary:

SystemMonitoringFrequencyProvider
Brain (tubers, SEGAs)MRIAnnually or as directedNeurologist
KidneysUltrasound or MRIAnnuallyNephrologist
Lung (LAM, women)HRCT, lung functionAnnually from adulthoodPulmonologist
SkinClinical reviewAs neededDermatologist
EyesOphthalmologyAnnuallyOphthalmologist
EpilepsyEEG, clinical reviewAs directedNeurologist
Cognitive and developmentalNeuropsychological assessmentEvery 2-3 yearsNeuropsychologist

A TSC clinic (available at some major children’s hospitals and adult neurology services) coordinates multiple specialist reviews in a single visit, significantly reducing the coordination burden for families.

Key Resources

Connecting with TSC Support Providers

Carevo connects families with tuberous sclerosis complex to neurologists, OTs, behaviour support practitioners, speech pathologists, and NDIS-registered daily support providers across Australia.

Find a TSC support provider through Carevo