Genetic epilepsy resources

Useful links and resources for children and families with genetic epilepsies

General information on genetics

Support groups and information

Genetic Epilepsy Team Australia (GETA)

GETA is a group of parents whose children have rare genetic epilepsy. 

Their mission is to help researchers cure genetic epilepsy. They convene an annual conference on genetic epilepsy for families, researchers and clinicians bringing together the latest research in genetic epilepsy and developmental and epileptic encephalopathies (DEEs).  

To be notified about the next conference, follow GETA on Facebook or Twitter, or email hello@geneticepilepsyteam.com.au.

Epilepsy Foundation

The Epilepsy Foundation is an Australian non-profit organisation committed to supporting people who live with epilepsy and individuals who support and care for people who live with epilepsy.  

  • Epilepsy Foundation Facebook page: The Epilepsy Foundation run several peer-support groups throughout the year for families. These events provide parents/carers/families with opportunities to connect with others, as well as have access to free or low-cost events and activities. Events/support groups will be advertised via their Facebook page.  
  • Epilepsy Smart Australia is a new national program run by the Epilepsy Foundation.
  • National Epilepsy Support Service (NESS) is a free, Australia-wide resource that provides support and information for people living with epilepsy and those who assist them. This service can help with information and resources to support the health and wellbeing of people living with epilepsy. However, it is not a support group. NESS is available Monday to Saturday from 9.00 am to 7.00 pm (AEST). Phone: 1300 761 487. 

Epilepsy Action Australia

Epilepsy Action Australia is a National NDIS Service Provider of professional education and services for people with epilepsy. They have several relevant online forums. While these may be useful, none are specifically just for carers of a child with intractable epilepsy.  

  • MyEpilepsyTeam: Epilepsy Action has partnered with MyEpilepsyTeam, a social network and online support group for people living with epilepsy (including family members and carers). 
  • Epilepsy Action Facebook page: This Facebook page gives regular updates about upcoming events, programs, surveys and studies. It offers snippets of information and alerts you to the latest epilepsy news and happening. However, it does not provide opportunities for interactive peer support (other than via comments).
  • Epilepsy Action & Friends Online Support group: This Facebook group is designed to bring together an Australian community of people aged 21 and over who have/had epilepsy or know someone with epilepsy. This is a place for you to share your experiences, meet others with epilepsy and gain practical advice so you feel better supported. There are currently 84 members, with about 3 posts a month.  

Kindred

Kindred (previously known as Reframing Disability) provide a number of services to support parents and caregivers of children with disability, developmental delays or medical needs, including children with a rare disease or no diagnosis.  

  • Peer Connect program: connects parents and caregivers just starting out on their journey with those further along the way. It’s an entirely free service delivered by their team of knowledgeable Peer Support Specialists, who are also caregivers of children with disability, delay, or medical need. This program runs virtually or via phone. 
  • My Time program: involves informal peer groups that are run online on Monday nights.  Parents and caregivers come together to share, laugh and learn from each other. It is a drop-in group. 

For further information, contact Kindred by emailing info@kindred.org.au.

Gene specific information and support groups

CDKL5

KCNQ2

SCN1A

SCN2A

STXBP1

FAQs from the GenE Compass project

GenE Compass

GenE Compass is an information linker service for parents who have a child with a Developmental and Epileptic Encephalopathy, developed and piloted by the CoGENeS team. 

Parents were invited to submit questions about their child’s genetic condition and receive personalised reports in return.

Some of the questions frequently asked by parents:

  1. What are the expected comorbidities for my child’s genetic condition?
  2. What links are there between [specific syndrome/genetic diagnosis] and neurodevelopmental conditions (e.g. ADHD)?
  3. What is the latest research on our child’s genetic condition?
  4. Are there any available clinical trials, in Australia or internationally, that we could be a part of?
  5. How can we stay in the loop with research opportunities and clinical trials?
  6. What are gene therapies? What does it involve and what benefits are there?
  7. Is gene therapy available for my child’s genetic condition and will it cure them?
  8. Are there any support groups for carers who also have a child with the same genetic condition?
  9. How many other children or adults have my child’s genetic condition?
  10. What is the life expectancy for people with my child’s genetic condition?
  11. Does puberty impact how we will need to manage seizures?
  12. Can any further genetic testing take place if the original test were inconclusive?
  13. Does the diagnosis of [specific syndrome/genetic diagnosis] provide indication of which medications may be more successful?
  14. Do people with [specific syndrome/genetic diagnosis] continue to have seizures throughout life?