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Glendale family talks about rare disorder for Children's Wisconsin


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. ....

United States , Alan Faber , Christine Baranoucky , A Foundation , Care Team At Children , Children Wisconsin Foundation , Complex Care Team , North Shore Fire , Wisconsin Foundation , ஒன்றுபட்டது மாநிலங்களில் , ஆலன் ஃபேபர் , குழந்தைகள் விஸ்கான்சின் அடித்தளம் , சிக்கலான பராமரிப்பு அணி , வடக்கு கரை தீ , விஸ்கான்சின் அடித்தளம் ,