Meet our Kids
These are the faces behind our mission. Each child’s journey with PPP3CA is unique, but they all share incredible strength and perseverance. By sharing their stories, we honor their resilience, bring visibility to this rare condition, and inspire the urgency to advance research and treatments.
Penelope
Penelope was born in late 2014. After rigorously searching for the cause of her developmental delays, Penelope was diagnosed with ESES (electrical status epilepticus during slow-wave sleep) in 2018. ESES is a rare epilepsy characterized by non-rapid eye movement (NREM) sleep induced epileptiform activity that produces cognitive defects. In 2019, Penelope’s parents discovered that the likely cause of this condition is a de novo mutation of the PPP3CA gene. Since she was a little girl, her parents dubbed her as “the hardest working girl in show business” as her dance card is always full with therapists and medical providers. Penelope has an amazing sense of humor and is a lover of all things music and animation. People marvel that Penelope can sing every word of a Taylor Swift song despite having major speech and language delays.
Penny
Penny was born in December 2020. She started having infantile spasms at 4 months old, and on April 1st we were diagnosed with PPP3CA gene mutation. We tried all of the frontline medications for infantile spasms, including the Keto diet, as well as VNS and Corpus Callosotomy surgeries, with no reprieve in seizures. She has not developed much since her spasms, no head or trunk control, requiring total cares. What is really interesting- as of this writing (2026) she has been virtually seizure free for several months, and we are starting to wean off Keto! With no real changes to her medication regimen. Her doctor thinks she may "grow out of them". Hopefully we continue to see progress! Penny loves music, chaos, and being right in the center of all the kids!
Lena
Lena was born in 2021. What started as developmental delays around 6 months of age turned into refractory epilepsy at 14 months and ultimately a diagnosis of a de novo mutation in the PPP3CA gene at 15 months. Lena's list of medical providers and therapists is long, but she remains resilient and is one of the hardest working girls out there. Lena loves rocking to music, particularly Taylor Swift, and playing with her drums. She is a cuddle bug and loves spending time outside, going for walks, swinging, bath time, bubbles, pop tubes, laughing at her brother, going to school, and getting licks from the family dog.
Claire
Claire, born in 2022, was diagnosed just before age two with global developmental delays, nonverbal speech disorder, and epilepsy. Genetic testing revealed a rare de novo mutation in the PPP3CA gene as the underlying cause. Within months, her epilepsy became refractory, and she has since experienced developmental regression and significant medical challenges, including gastrostomy tube placement and movement disorders that impact her progress.
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, her Toniebox, and watching the Minions.
Eoin
Eoin was born full term and healthy, but early on he faced feeding difficulties and severe spasms. At three months old, genetic testing revealed a PPP3CA gene mutation, and he now lives with multiple seizure types, managed with four anti-epileptic medications.
Despite these challenges, Eoin is incredibly strong and determined. With physiotherapy he continues to make great progress — crawling, cruising along the sofa, and recently starting to use a walker.
He is full of joy and personality: he loves dancing, chasing balls, watching the washing machine spin, and turning anything into a drum. Curious and full of life, Eoin brings happiness to everyone around him and is deeply loved by all who meet him.
Lily
Lili was born in 2023 and, after a long diagnostic journey, was diagnosed with a de novo mutation in the PPP3CA gene. She lives with drug-resistant epilepsy and severe developmental delays. Lili is non-verbal and non-mobile, but every day her loved ones support her development and comfort through various therapies.
Surrounded by the deep love and determination of her parents, she continues to fight for her health and future. They believe that progress in PPP3CA research will bring hope. Their greatest dream is that one day Lili will be able to look at them consciously, smile, and connect with the world in her own way.
Orlaith
Orlaith was born in 2022. It became quickly apparent by 3 months of age that she had developmental delay. She was late to sit up, crawl and walk. We received her diagnosis following whole genome sequencing when she was 19 months. She has been in therapies for physiotherapy and speech and language since she was 7 months old and we continue them today. She currently is making good progress and with significant additional support continues to amaze us with her resilience and joy. Orlaith loves Peppa Pig, Bluey, playing with dolls and her big sister, Aoife.
Teagan
Teagan, born in July 2023, seemed to develop at his own pace until September 2024, when he began having infantile spasms. In February 2025, he was diagnosed with a PPP3CA mutation.
Despite the challenges, Teagan shows incredible resilience. He is now crawling and cruising, determined to keep up with the world around him. His days are filled with physical, occupational, and speech therapies, and he continues to grow stronger every day.
Teagan is a joyful little boy who loves FaceTiming his grannies, playing with bubbles, and splashing in the water — reminding us that progress, at any pace, is something to celebrate.