Tell us about yourself and the patient in your life:
Sloane had her first seizure at 9 weeks old, and when she was 5 months old, she was officially diagnosed with this very rare SMC1A genetic disorder. Sloane is now 2 and a half years old, and as she’s getting older, we’re observing that her case seems to be quite severe. She’s non-verbal and fed via g-tube. She’s still working on strength for tummy time, holding her head up and supported sitting. She’s on five anti-epileptic meds + CBD + keto diet but still has breakthrough seizures almost daily. That said…she’s the strongest little girl we know and we’re so proud. She’s smiley, loves laughing, music and story time, and her big brother is her favorite.
We live in Milwaukee, WI and her care team at Children’s Wisconsin is top-notch. We work closely with the Complex Care team to manage her overall healthcare, as she sees 6 different specialists. She also receives Speech, OT and PT weekly. Her ICU and Neuro nurses and doctors have guided us through our hardest days as a family, and we are forever grateful to them.
What is your hope for the future for your loved one:
We strive to give Sloane and her big brother a happy, stable, loving home. We truly appreciate every good, seizure-free day. We’re blessed with supportive family and friends, and we are so grateful to the SMC1A Foundation and this community of families.
We hope for continued research and attention to SMC1A. Over the past 2 years, I have raised over $19k in donations for the SMC1A Foundation (and $12k in the year prior for the CdLS Foundation, targeting SMC1A research, specifically. This was before the SMC1A Foundation was officially in place). Every dollar raised goes to support the Foundation’s research to benefit Sloane and the other girls fighting this catastrophic diagnosis.
Rare diseases simply don’t have the same awareness, fundraising or research allocated to them, which makes the fight for treatment and knowledge that much harder. I’m so grateful for the generosity of our colleagues, friends and family, as well as matching $ gifts from my employer, Microsoft. The goal is to help accelerate SMC1A research to find effective treatments, and ultimately, a cure.