Phoebe

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3 years old
Washington DC

Phoebe was born in 2021 and named for a mythological Titaness whose name means “bright.” Her middle name is Joan, as in Joan of Arc, one of history’s most famous warriors. Her name fits. We couldn’t imagine a brighter light than our girl who fights so hard every day of her life. Unfortunately, she began missing gross motor milestones within months of birth and began receiving physical therapy (PT) before her first birthday. We were told (and hoped) that she was just late meeting some milestones and there was no serious cause for concern. We’re lucky that our pediatrician noticed a brief seizure during a routine check-up, however. After several nights at Children’s National Hospital, Phoebe was diagnosed with epilepsy (infantile spasms) in January 2023. Three weeks later, the genetic test results came back. Our lives were permanently changed when we received Phoebe’s SYNGAP1 diagnosis on 13 February 2023.

The past year plus has been a whirlwind. Phoebe, however, has been truly amazing dealing with everything that has been thrown at her. She has had numerous visits to Children’s National (including overnight EEGs), three visits to Children’s Hospital of Philadelphia (and counting), three hours of therapies weekly (PT, occupational, and speech), far too many evaluations and re-evaluations, and daily anti-seizure medication. 

Phoebe is an incredibly sweet girl. She truly lights up around her family, friends, teachers, and therapists. She only has a handful of words, but “bath” is her favorite word and activity. Really, she loves playing in all water whether it be a sink, bath, pool, or ocean. She also loves music and is currently discovering the wide world of Disney movies and songs. Phoebe finally started taking steps at about 31 months old, but she gets more confident every day. She has been enrolled in an adaptive dance class since September 2023 and has especially taken to it in the past few months as her walking improves. Through it all, she won’t stop smiling.

We’re very thankful for all the love and support shown by friends, family, and the community. We wouldn’t be where we are without it. Phoebe doesn’t know she’s sick, she just wakes up every single day of her life and fights like the warrior she is. We can’t stop fighting either, Phoebe needs us all. We must do everything we can to cure SYNGAP1.