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2nd Annual PPP3CA Race for Rare 5k Run/Walk

Sun September 28, 2025 Topeka, KS 66609 US Directions

2nd Annual PPP3CA Race for Rare 5k Run/Walk

Donation Goal: $15,000

The PPP3CA gene is typically responsible for the production of a protein called calcineurin, 
which plays an important role in brain cell communication. Mutations interfering with proper neuronal transmission can lead to neurodevelopmental, neurological, and neuropsychiatric disorders, including severe epilepsy. Because the PPP3CA gene is important for many parts of the body, some people may have global developmental delays, intellectual disabilities, seizures, difficulty speaking, difficulty eating, sleep problems, autism, visual impairment, kidney/urinary issues, low muscle tone, or bone defects.

De Novo PPP3CA variants were first discovered in late 2017.  Since then, we have discovered nearly 60 children diagnosed worldwide.  This genetic disease can be diagnosed through whole genome sequencing or epilepsy genetic testing.

The PPP3CA Hope Foundation is a parent-led non-profit organization with the mission to raise awareness, provide support for families impacted by mutations in the PPP3CA gene, and promote and fund research directed towards a cure for individuals with PPP3CA variants. 

Your gift will help us fund research models to better understand PPP3CA.  The PPP3CA Hope Foundation is working with researchers to better characterize the gene in hopes to shed light on potential treatments for our children and beyond. 
To learn more about our researchers and their plan to find a treatment, please visit: www.ppp3cahope.org

Please join the PPP3CA Hope Foundation in our 2nd Annual 5k Run/Walk campaign.  
Your donation, advocacy, and support is greatly appreciated.

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

Claire is a 3 year old girl from Topeka, Kansas.  Claire lives with her parents and two big brothers who adore her.  She loves dance parties, snack time, Minions and Peppa Pig, golf cart rides, reading stories, water play, and exploring outside.  Claire is sweet, curious, and affectionate.  She loves to pretend play with her dolls and play kitchen.  She especially loves laughing and joining in on all the shenanigans her brothers come up with.

After the onset of seizures in February 2024, Claire was diagnosed with epilepsy just before 2 years of age.  Claire underwent genetic testing to find a cause for her seizures and global developmental delays.  The results confirmed that Claire had a de novo mutation in her PPP3CA gene.  Variants found in the PPP3CA gene have been known to cause neurodevelopmental disease and severe epilepsy.  Claire is among a rare community of children found around the world living with this condition.  

Claire has expressed global developmental delays in gross motor skills and language skills since 6 months of age. At 20 months of age, she began walking.  She has had AFOs and orthotics to help with tone and stability for her walking. She has a communication device that serves as an additional mode of communication since she is non-verbal. Claire has drug-resistant epilepsy and presents with multiple seizure types.  Her developmental milestones have been delayed for a year due to refractory seizures and developmental regression.  Claire takes daily anti-seizure medications and is involved in weekly physical, occupational, and speech therapies. 
Although this journey has been difficult and unexpected, we celebrate joy when we can and try to live by Claire's example of being resilient through hardships.  

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

$11,190

Raised of $15,000

$0
$15,000

Top Donors

$11,190 Raised By 86 Donors

$600 on behalf of Volare Yantis
$300 from Anonymous
$225 on behalf of Jeff & Lucia
$250 on behalf of Kimberlee Pittz
$225 on behalf of Laurel Peterson
$200 on behalf of Penny Waterman
$225 on behalf of Phyllis Weber
$200 from Anonymous
$150 on behalf of Kholton Dwyer
$180 on behalf of Abby Kubie
$125 on behalf of Christopher Desch
$100 on behalf of Danielle Klayman
$150 on behalf of Darrell Meakins
$150 on behalf of Elizabeth Porter
$100 on behalf of Gayle DeMasse
$100 on behalf of Jeff and Lonnie Kocsis
$150 on behalf of Jennifer Wake
$150 on behalf of Jill Coday
$125 on behalf of Josephine Bottles
$125 on behalf of Joy Bishop
$205 on behalf of Kaitlin Robinson
$100 from Anonymous
$125 on behalf of Lena
$125 on behalf of Lisa Reedich
$100 on behalf of Liz La Colla
$125 on behalf of Maddy Bennett
$100 on behalf of Oliver from Betsy and Jan
$100 on behalf of Penny Waterman
$100 on behalf of Catherine Craig
$150 on behalf of Alicia Jocelyn
$75 on behalf of Alyce Bishop
$75 on behalf of Amanda Stephenson
$100 from Anonymous
$50 on behalf of Claire Pittz
$100 on behalf of Claire Pittz
$215 on behalf of Cruz for Claire
$95 on behalf of Denise Scott
$150 on behalf of Eileen Wiedwald
$50 on behalf of Jaylene Arnett
$135 on behalf of Kelsey Singleton
$75 on behalf of Kevin Lu
$50 from Anonymous
$75 from Anonymous
$100 on behalf of Kristi Butterworth
$75 on behalf of Lighthiser Aidan
$75 on behalf of Logan Renes
$130 on behalf of Megan Irvine
$50 on behalf of Mike & Debbie Worthington
$50 on behalf of Monica Helsel
$50 on behalf of Pam McKinsey Pam McKinsey
$100 from Anonymous
$75 on behalf of Teresa Dultmeier
$100 on behalf of Tracy Hogan
$50 on behalf of Ahmad Ibrahim
$50 on behalf of Avery Ryan Hurla
$65 on behalf of Caitlin Cordero
$65 on behalf of Copelynn Wellman
$50 on behalf of Emily Sterling
$25 on behalf of For Larisa C and family
$50 on behalf of Gilda Singleton
$105 on behalf of Grace Salsbury
$25 on behalf of Heidi Culshaw-Floer
$50 on behalf of Lindsey Fratus
$50 on behalf of Missy Middendorf
$50 from Anonymous
$50 on behalf of Pam and Richard Carlson
$75 on behalf of Penny
$115 on behalf of Shandy family
$50 from Anonymous
$25 from Anonymous
$90 from Anonymous
$35 on behalf of Bradley Mighdoll
$75 on behalf of Caitlin Perry
$35 on behalf of Jessica Jenness
$35 on behalf of Jill Hamm
$35 on behalf of Kate Callaway
$35 from Anonymous
$35 on behalf of Krystal Mercer
$35 on behalf of Matthew Dunkin
$35 from Anonymous
$35 on behalf of Monica Fowler
$35 on behalf of Rachel Sarconi
$35 on behalf of Rob and Jeane Hoffman
$35 on behalf of Steven Kirk
$35 from Anonymous
$35 on behalf of Treva Sykes

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