A Rare Collection – Up At Night
ONCE UPON A GENE – EPISODE 135
A Rare Collection – Up at Night
There’s power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.
Mike Gralia, Dad to Tony and Founder of the Syngap Research Fund
Mike recalls the nights insomnia kept him awake, looking at Tony as he rested, and wondering what his life would hold. In the darkness of night, his fears had the freedom to emerge. Tony wouldn’t sleep without hours of walking the hall, singing and rocking. Then he’d wake up in the middle of the night crying. Mike and his wife had demanding jobs and the lack of sleep took its toll. When he was three years old, Tony began having seizures and he was diagnosed within a year with SynGAP1, which causes major sleep disturbances. Each day as the sun sets, Mike knows he’s going to watch the rerun of a series he knows all too well.
Jennifer Sills, Mom to Jules and Founder of CSNK2A1 Foundation
Jules, who has Okur-Chung Neurodevelopmental Syndrome (OCNDS), suffers from a severely disrupted sleep pattern. Jennifer shares of her loneliest nights, staring at the computer, searching for answers for Jules and an explanation for her symptoms. After Jules was diagnosed, the late night internet searches continued and revealed there were no OCNDS resources. Now, the nights aren’t as lonely, as Jennifer has discovered over 190 families affected by OCNDS worldwide. She finds comfort in her community and knows she’s not the only parent suffering from crushing fatigue. She finds comfort in reflecting on all that Jules has taught her about having purpose and perspective.
Charlene Son Rigby, Mom to Juno and Founder of SDXBP1 Foundation
As a night owl in college, Charlene spent countless hours hanging out with friends. After college, being a night owl leant itself well to life in the startup world. She prided herself on only sleeping 5 to 6 hours a night with so much to do. After having kids, nights became quiet and peaceful, a time to focus on projects and creative work. When her daughter Juno was diagnosed with SDXBP1 disorder, her nights turned into hours of worry and researching medical papers. Nights were driven by urgency to help Juno and driven by fear for her future. But nights were also driven by optimism and a belief that science could and would help.
Sunita Malepati, CACNA1A Foundation
Sunita was told when she had her first child, sleep when the baby sleeps, but she was never good at taking that advice. Sunita pulls a second shift, staying up late, trying to figure out how to cure her daughter’s rare disease, a CACNA1A-related disorder. After receiving a diagnosis, Sunita turned her grief and despair into hope and action. The CACNA1A Foundation became her second shift. As a rare disease patient advocacy organization, the foundation is focused on finding treatments and cures for the CACNA1A community by building a collaborative network of patients, families, clinicians and scientists.
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