“Our daughter Anaya started crawling late. At her first birthday, she still wasn’t able to stand on her own. That’s when my mom instincts really kicked in that something was wrong.
My husband Dean and I pushed hard to get her to a neurologist and a geneticist. When we finally got the diagnosis of muscular dystrophy, that was scary enough, but we also learned that Anaya’s mutation was absolutely unique. The only case in the world. In scientific terms, an N of 1. I have a science background myself, and it’s hard to overstate how daunting that is from a research and treatment perspective.
“...We also learned that Anaya’s mutation was absolutely unique. The only case in the world.”
But I truly believe that children choose their parents. If a beautiful little girl who is an N of 1 chose us to be her parents, it must mean that we’re the right people for it.
Anaya is seven now, and she’s such a happy child. Even though she has to ask for help with everything — getting out of bed, going up steps — she never complains. When the weather’s nice and the kids in the neighbourhood want to play hide and seek, she’ll be out there with her dad, getting him to carry her around as they run and hide.
Anaya is so outgoing. Her best friends live next door and our house is never empty. If her friends aren’t over, then she’s talking online with her virtual community of other kids with muscular dystrophy. Honestly, the online community has been a saving grace for me, too. It’s so important to be able to connect to people who understand the challenges we face.
Connecting with other families through social media was also what brought us to fundraising. Every year, we do the Million Dollar Bike Ride led by the Orphan Disease Center at the University of Pennsylvania. 100% of donations support research for collagen VI CMD, Anaya’s subtype. Anaya loves our friends coming together and it gives us a sense of being able to actually create hope.
We don’t know what the future holds, but we do know that Anaya has big plans. She’s a hopeless romantic and she’s already planning the castle she’ll live in. And her career. She’s going to be a professional singer. And a daycare teacher. This girl has no shortage of confidence.”
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