History and Mission
This family network was created by families whose loved ones experience a variation in PPP2R5D. We first got together in 2015 and have since grown to span multiple countries. Our children vary in age and abilities, but have all shown their willingness to work hard and with great tenacity.
The purpose of this group is to provide support and share information between the families, raise awareness regarding the variation, connect with additional families and drive funding to enable additional research on the topic.
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While not enough information is available regarding the variation, experts on the topic agree that there is a potential for treatment. We are fortunate to have a group of experts studying the variation and families willing to participate.
If your loved one received a PPP2R5D diagnosis, know that you are not alone. Know that exciting work using cutting edge technology is taking place. Know that the journey towards more answers has started. Connect with us and join the journey.