Our Community

As parents who have children diagnosed with the PPP3CA mutation, the label gives us a place to gather, find support and launch toward a cure. From around the globe, we are united to support each other and do whatever we can to push towards a cure.​ And we know it's not just us.

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Many more are out there. PPP3CA can currently be diagnosed only through a whole exome or genome sequencing. It is not currently included in any preliminary epilepsy or other genetic screening. This high bar for diagnosis confirmation, coupled with the relatively recent connection between symptoms and the PPP3CA mutation, means that diagnosed individuals are scarce - though geneticists think there are likely many more individuals yet to be uncovered.

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If you are a parent/caregiver of someone with PPP3CA, please join our community. This includes completing the PPP3CA registry, as well as joining Simons Searchlight (learn more here). This helps us learn more about PPP3CA and better target research efforts. If you are family, friends or other members of our larger community, please consider making a donation to help us expedite the path for a cure. Our children are waiting.