Patient Advocacy Groups
Why do PAGs Matter?
There is a broad diversity of genetic influences to neurodevelopmental disorders such as ASD. Genetic variants can be broken down into two types: rare and common variants. Common variants have small effects individually and you need a lot of them to show a specific phenotype.
​The other type, rare variants, are not normally seen in those without a disorder or disease. There are many rare variants associated with specific conditions related to ASD, and most of them are spontaneous, happening in a child but not hereditary (not passed down by a parent).
For about 10% of the autism community (this number is always changing with new genetic testing technologies), their autism can be tracked to a rare genetic mutation or variant, or another type of genetic condition that has a larger chromosomal abnormality. Families with these rare genetic variants have come together to form Patient Advocacy Groups around their particular genetic condition. This allows them to advocate and support science and research around the genetic condition of interest, and has proven to be a strong support system for families and individuals.
However, many of these rare genetic conditions share common features - including autism and neurodevelopmental disorders, but also other problems like seizures, gastrointestinal problems, sleep disturbances, and other symptoms. AGENDA brings these Patient Advocacy Groups (PAGs) together to ensure that we collaborate and communicate on common needs across different rare genetic disorders.
Not in a PAG yet?
If you are a family who is not part of a PAG yet, there are still things you can do:
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Find out about resources for families with rare genetic conditions and larger groups that exist to support them.