Meet Audrey: The Face of Light
There has been a lot going on in Aidan’s genetic world. First, we’ve met eleven other families with the same diagnosis. Second, we’ve managed to gain the attention of several researchers. Third, and this part may be my favorite, some of us PURa moms are getting together in a few weeks to meet each other in real life. I can’t wait to tell you more. For now, go like our Friends of PURa Syndrome Facebook page and meet some of the other kids here on my blog.
This is the story of Audrey, Aidan’s PURa sister, as told by her mom Sarah:
Audrey is a happy, bright three year old girl from Ohio. At four months old, she was diagnosed with severe low muscle tone. She quickly started private physical and occupational therapies and Early Intervention services from the State. Audrey went through many, many genetic tests but each came back normal. Over the summer of 2014, Audrey was diagnosed with hypotonic cerebral palsy. Shortly thereafter, we received the call that her exome test results were re-analyzed and a genetic mutation of her PURA gene was found to be the cause of her symptoms.
We have known from the start of this journey that Audrey was rare, even among the rare community. She did not fit the mold of most developmental disabilities. Doctors and therapists never put limits on her potential because she always made progress at her own pace. And with no one to compare her to, they did not adjust their expectations downward based on other people’s outcomes.
To protect my heart, sometimes I try not to dream about our future. I try my hardest to live in the present and enjoy every breath. There is not much room for worrying about milestones when everyday life brings so many surprises and joys.
Audrey took her first unassisted steps recently.
It was never guaranteed. And I would love her the same if it never did happen. Or if it never happens again.
But on that day my baby traveled to the moon, she got the lead in the play, she made the honor roll, she won first place in the meet, she sang the solo, she danced.
I don’t need to hear reassurances that she will be walking soon or that I will be chasing after her next week. Those things will come in time… or they will not. They are not guaranteed and that is OK. She will keep working toward those goals and getting stronger. And I will not let thoughts of what comes next diminish the magic of this moment.
Because Audrey reminded me that it is OK to dream.
One small step for a girl. One giant leap for a mama’s heart.
Since Audrey received her rare diagnosis, there are still too few like her to forecast her future. But it wouldn’t matter if they tried. Audrey is one of a kind and there is only One who knows where her path will go.
The other children that share Audrey’s condition are just as remarkable. There are about twenty children in the WORLD that have been diagnosed and we are blessed to know six of them. They are happy, silly, hard-working, and inspiring kids that have been through too much but they don’t let that hold them back.