The PPP3CA gene is responsible for producing a protein called calcineurin, which plays a crucial role in brain cell communication. Mutations in this gene can disrupt proper neuronal transmission, leading to neurodevelopmental, neurological, and neuropsychiatric disorders, including epilepsy. Since the PPP3CA gene is essential for many bodily functions, individuals may experience global developmental delays, intellectual disabilities, seizures, speech difficulties, feeding issues, sleep problems, autism, visual impairments, kidney/urinary issues, low muscle tone, limited mobility, or bone defects.

De Novo PPP3CA variants were first discovered in 2017. Since then, approximately 40 children have been diagnosed worldwide with this condition, which can be identified through whole genome sequencing or epilepsy genetic testing.

The PPP3CA Hope Foundation is a parent-led nonprofit with a mission to raise awareness, provide support to families impacted by PPP3CA gene mutations, and fund research aimed at finding a cure for those affected by PPP3CA variants.

Your gift will support research efforts focused on understanding the PPP3CA gene. The foundation is collaborating with researchers to better characterize the gene, with the hope of discovering potential treatments for our children and beyond. To learn more about our researchers and their plans to find a cure, please visit: www.ppp3ca.org

We invite you to join the PPP3CA Hope Foundation in our first 5K Run/Walk campaign.

Your donation, advocacy, and support are deeply appreciated.

Below is the story of a local girl living with PPP3CA-related rare disease:

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Claire’s Story

Claire is a 2-year-old girl from Topeka, Kansas, living with her parents and two big brothers who adore her. She loves dance parties, snack time, Olaf and Minnie Mouse, golf cart rides, reading stories, and exploring outside. Claire is sweet, social, laid-back, curious, and affectionate. She enjoys pretend play with her dolls and play kitchen, and loves laughing at the antics of her brothers.

In February 2024, after the onset of seizures, Claire was diagnosed with epilepsy. Genetic testing confirmed that she has a de novo mutation in her PPP3CA gene, known to cause neurodevelopmental disease and severe epilepsy. Claire is part of a small, rare community of children around the world living with this condition.

Since six months old, Claire has shown global developmental delays in gross motor and language skills. At 20 months, she began walking with the aid of AFOs and orthotics to help build muscle tone and improve mobility. Currently non-verbal, she uses a communication device as an additional tool to express herself. Claire takes daily anti-seizure medication and participates in weekly physical, occupational, and speech therapies.

Although this journey has been challenging and unexpected, we celebrate every joy and embrace each milestone.

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We hope that raising awareness will not only help fund medical research breakthroughs but also educate communities about rare diseases. Together, we can build a more empathetic, inclusive world for those who are neurodivergent.

Thank you for being part of our mission!

PPP3CA Rare Disease 5k Run/Walk

By PPP3CA Hope Foundation Inc

PPP3CA Rare Disease 5k Run/Walk

by PPP3CA Hope Foundation