Meet our Kids
These are some of our PPP3CA superstars. While their stories are slightly different, they are united through their genetic mutation.
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 of 2020. At four months old, Penny was diagnosed with infantile spasms. In searching for the cause, it was discovered that Penny had a mutation on her PPP3CA gene. At this time, Penny’s seizures are still not under control, after having tried 9 treatments so far. She is functionally at a 4 month level; unable to hold up her head, roll over, sit up, interact with us and grab or track objects. Her family is working with ALL the therapies and relishing in all of the small “inch stones” she accomplishes.
Lena
Lena was born in 2021. What started as developmental delays around 6 months, turned into refractory epilepsy at 14 months and ultimately a diagnosis of a de novo mutation of the PPP3CA gene at 15 months. Lena’s list of medical providers and therapists is long, but she remains resilient, teaching us all the true meaning of strength and courage. Lena loves all music but particularly the Hamilton soundtrack and Taylor Swift. She is a cuddle bug and loves spending time outside, going on swings, bath time, bubbles, laughing at her brother, going to school and getting licks from the family dog.
Claire
Claire, born in 2022, was diagnosed with global developmental delays, a speech disorder, and epilepsy shortly before her second birthday. Genetic testing identified a rare de novo mutation in the PPP3CA gene as the root cause of her challenges. Claire began experiencing refractory epilepsy 8 months later. Despite her health challenges, Claire continues to inspire us with her incredible perserverance and persistent joy. She is learning alternative methods to communicate and tackles developmental hurdles with boundless curiosity. Claire enjoys books, pretend play with her dolls and toy kitchen, water play, and lively dance parties with her older brothers. She laughs and lights up at the sight of the Minions and Peppa Pig.