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I'm celebrating today. I'm celebrating the small ringlet of auburn hair that wraps around your left ear. I'm celebrating the way you jump & dance when one of your many favorite songs comes on. I'm celebrating your silly fake laugh you do when you're trying to get us to laugh with you. I'm celebrating the way you lace your fingers and rest your hands on your lap as you watch Disney movies.
Today I'm celebrating you, Audrey, and all the things that make you who you are and the things that make you rare. Today is World Rare Disease Day.
Did you know there's only 87 documented cases of individuals with the KIF11 gene mutation in the world? This gene mutation diagnosis we learned is responsible for Audrey's microcephaly and underdeveloped retinas. And if you think 87 is rare, Audrey's case was the 13th novel mutation meaning there's no other documented case in the world that matches hers.
I remember when the doctor first suspected that was the specific gene causing our daughter's problems. Like any parent with access to technology--I googled. Medical journals would pop up, but those can be hard to decipher. There were no blogs of parents whose children had this same condition. I couldn't reach out to my friends who were parents to ask them questions about what we could expect or what appointments we might be facing next. Sure there were forums on microcephaly but with such extremes it was hard to understand where we fit in the spectrum.
And for awhile, that bothered me. I'm a planner. I wanted to know what we're in for. I wanted to know what challenges our daughter would potentially face.
That's why today is so important to me and many others in the world who receive or love someone who receives a rare diagnosis. Today is about awareness. And that's why I blog. Not only am I a proud mother who loves to write about her sweet little girl, but I feel like this could potentially be a resource to the parent of Kif11 mutation diagnosis 88. Not just another medical journal filled with technical jargon and statistics, but a story about what real life is living with the condition, what appointments may be in their future, what outside resources could be tapped into...someone to relate to. That's why I celebrate.
Audrey, you are sweet, you are unique and you are everything your dad and I could've ever hoped for and more. We love you.