The PPP3CA Hope Foundation is a registered 501(c)(3) nonprofit dedicated to advancing research , raising awareness , and connecting families affected by PPP3CA.
Your support of the PPP3CA Hope Foundation helps:
Fund critical PPP3CA research and model development Advance understanding of disease mechanisms and potential treatments Support collaboration with rare disease industry partners Raise awareness for rare, genetic epilepsiesProvide hope for families Together, through the annual Race for Rare campaign, we are driving meaningful progress for children who need it most.
To learn more, please visit our website, www.ppp3cahope.org or reach out to Jacci Pittz at jacci@ppp3cahope.org
The Kansas Race for Rare Event proudly honors two brave PPP3CA girls–Claire and Penny. Although their experiences have been different, both girls are impacted by drug-resistant epilepsy and developmental disabilities caused by this genetic disease.
Claire:
Claire, born in 2022, was diagnosed just before age two with global developmental delays, nonverbal speech disorder, and epilepsy. Genetic testing revealed an ultra-rare de novo mutation in the PPP3CA gene as the underlying cause. Within months, her epilepsy became refractory, and she has since experienced a significant developmental regression and plateau leading to intellectual disability. She attends weekly physical, occupational, and speech therapies to improve communication, motor functioning, and life skills.
Despite her challenges, Claire perseveres with joy. She is learning new ways to communicate and approaches each day with curiosity. Claire is deeply affectionate and loves books, her red spatula, water play, listening to her Toniebox and Teddy Swims, and watching the Minions.
Penny:
Penny, born in 2020, was diagnosed with PPP3CA following the onset of infantile spasms at just four months old. Since then, she has endured an unimaginable journey—trialing over 20 medications and treatments, including the ketogenic diet, VNS, and corpus callosotomy surgery, without relief from seizures. Her epilepsy has profoundly impacted her development, and she requires full-time care.
Penny loves music and being right in the center of all the chaos with loved ones.
We hope that awareness can help raise funds for medical research breakthroughs, educate communities about rare diseases, and create a world more empathetic, empowering, and inclusive for those with disabilities.
Thank you for being part of this mission!
For more information please visit www.ppp3cahope.org or email us at info@ppp3cahope.org
