Understand the diagnosis
Ask for the genetic report in writing and for a genetic counselling appointment. Write down the exact variant: it will help you find information and research.
For families
If your child or someone in your family has just been diagnosed, this page is for you. Take a breath. Let's go one step at a time.
Build a team
Neurology, rehabilitation, speech therapy, physiotherapy and psychological support. A coordinated team makes a difference.
Look after yourselves
Caring takes energy. Ask for help, share the load and don't forget your own wellbeing.
Connect
Talking to families who have lived the same thing helps a lot. That's why we exist.
Questions to take to your medical team
- 1What does our specific variant mean? Is it known in other people?
- 2What symptoms should we watch for, and what do we do if they appear?
- 3Which therapies do you recommend, and how often?
- 4Is there any medicine that could help with episodes or seizures?
- 5Should other family members have a genetic test?
- 6Are there studies or registries we can join?
Join the family network
Tell us a little about you. We will write back personally, and we will never share your data outside the association.