ABOUT US

It was a sweltering fall day in India when we were handed a 12 pound fourteen month old baby. She had the squishiest cheeks, one precious eye, and eight beautiful toes. Those toes were the first signal to us that our tiny daughter might have something more going on.

Once we arrived home we started our journey to answers. This included an emergency hospitalization, 6 weeks with an ng tube, countless specialists, and landed us in a geneticist's office 18 months later. As a mother I was hopeful. A genetic syndrome meant we would have a community of support. Genetic syndromes have communities and conferences and people who have walked this road ahead of us. Right? Wrong. We heard a genetic counselor tell us that our little medical zebra was a unicorn. Of three reported cases with her exact change on SMOC1, Hope is the only one to survive birth. The only one. No community. No support. No one who has walked this ahead of us. I felt lost without a roadmap. And then I felt determined to not let another mom feel like this. I want the next family to find Hope and find that there is a way forward.

Every roadblock and new diagnosis we've hit has given us just one more piece of this. At 5 years old, Hope has had 5 planned hospitalizations, 3 emergency hospitalizations, and 4 surgeries. She has received care in 3 different states. SMOC1 is a signaling protein in the basement membrane of every cell so it affects most of her body systems. She has been diagnosed with: blindness, one missing eye, one small eye, Stage 2 Kidney Disease, Arthrogryposis (congenital malformation of her elbow joints), bilateral syndactly or fusion of her 4th and 5th toes, Congenital Heart Disease (Atral Septal Defect), Tethered Spinal Cord, GI issues, Cognitive Delay, Small Stature, Slow Growth.

We decided to take a step that felt crazy and start looking for scientists instead of only doctors. We found other parents who got news similar to ours and learned their kids were unicorns. We took inspiration and created SMOC1 Foundation for Hope.

Our goal is twofold. One: create a community for SMOC1 families and become a place people could turn for answers and some direction. Two: push the research spaces forward in regards to SMOC1. We want to help bring the research community together to create a clearer picture of what SMOC1 dysfunction looks like in the body and help to draw that roadmap we don't have now.