Porto
Matilde, 3 years old
Diagnosed in 2024.
For families
Support for those living with SYNGAP1
Practical guides for families living with SYNGAP1: diagnosis, epilepsy, development, communication, school, therapies and support in Portugal.
For families
Resources for families
Practical guides, written in plain language and reviewed by health professionals.
- DiagnosisGenetic testing, results and first steps.
- EpilepsySeizure types, medication and emergency plans.
- DevelopmentMilestones, early intervention and autonomy.
- CommunicationSpeech, AAC and assistive technology.
- SleepRoutines, common difficulties and strategies.
- BehaviourSelf-regulation, anxiety and strategies at home.
- SchoolInclusive education, support measures and coordination.
- TherapiesPhysiotherapy, speech and occupational therapy.
- Rights and support in PortugalCertificates, benefits and social support.
- Clinical trialsHow they work and how to take part.
Families
Our warriors
Santarém
Fabiana, 3 years old
Diagnosed in 2024.
Esposende
Laura, 28 years old
Diagnosed in 2024.
Glasgow
Rafa, 3 years old
Diagnosed in 2024.
Lisbon
Bruno, 9 years old
Diagnosed in 2022.
Lisbon
Henrique, 18 years old
Diagnosed in 2022.
Pinhal Novo
Alexandre, 14 years old
Diagnosed in 2018.
Silves
Inês, 14 years old
Diagnosed in 2018.
Faro
Leonor, 23 years old
Diagnosed in 2018.
Viseu
Rafael, 12 years old
Diagnosed in 2018.
Braga
Luz, 10 years old
Diagnosed in 2020.
Seixal
Tiago, 21 years old
Diagnosed in 2016.
Odivelas
Miguel, 14 years old
Diagnosed in 2014.
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