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For Sarah and Alan Faber, their milestone was waking up without their daughter’s seizure alarm sounding.
The Fabers, of Glendale, have a 5-year-old son, Henry, and a 2-year-old daughter, Sloane. At 9 weeks old, Sloane started having seizures in clusters.
She was diagnosed with SMC1A epilepsy, a rare genetic mutation that affects only girls.
The Fabers were among 25 families who shared their story during WKLH’s Miracle Marathon for Children’s Wisconsin in hopes of bringing awareness to lesser-known diseases and support the hospital s fundraising effort.
SMC1A epilepsy
According to the SMC1A Foundation, females have two X-chromosomes and therefore two copies of the SMC1A gene per person. SMC1A variants that lead to seizures are on one of the two chromosomes.