This is a guest post from a dear friend of mine, Laura, who I used to work with. Her baby daughter has recently had a shocking diagnosis, please read this and send her some prayers as she shares their story. She needs us.
Thanks Laura, for sharing your story. <3 to you and baby Audrey. Here’s Laura:
Have you ever been punched in the gut?
Punched so hard that you can’t breathe, that you’re nauseous and you can’t think of anything but the shock?
That’s exactly how I felt on December 12, 2011 when the doctor told me my newborn baby girl was blind.
Let’s back up here a bit…
My pregnancy was amazing. Perfect actually. I looked good, felt good, everything was perfect. Even my delivery was awesome. I went into labor 2 days before my due date and was even able to deliver without an epidural.. (yeah, I know, amazing, right?)
When I brought Audrey home she slept great right off the bat and nursed like a little baby champion!
Just one thing. I noticed her pupils seemed big. I didn’t think much of it. I just figured they’d go down with age, or she’d just have beautiful black eyes.
That brings us to December 12th. Her 2 week appointment.
Everything was going great.. My doctor gave us a clean bill of health. And then, at the end, she asked if I had any questions or concerns. Almost as an afterthought I asked about Audrey’s eyes. The doctor took out that little light thingy, shined them in Audrey’s eyes and said, “Laura, I don’t want to sugar coat this. I believe your daughter is blind”.
I called my husband at work and he came home immediately. We just sat together on the couch for hours, holding Audrey and crying.
We got a referral to a pediatric optometrist but the earliest appointment was two days later. Those two days were hell. I was doing anything to try and determine if my daughter could see. I would walk her up to a window and see if she’d squint. I’d put her in a dark room then turn on the light and see what her eyes would do.
I thought she could see… But what the hell do I know?
All I could think about was the stuff Audrey would miss out on. Silly stuff really. Would she ever be able to see Mickey Mouse? Would she be able to see the beautiful dresses I bought for her? What about prom? What about driving? The questions were endless. And made me sad.
The day of our appointment finally came. My husband and I and Audrey showed up an hour and a half early. We were a bundle of nerves and fear.
The pediatric optomatrist examined Audrey and that’s the first time I heard the word aniridia. It’s a genetic condition that affects the eyes. Apparenty, about 6 or 7 weeks into my pregnancy the Pax 6 gene sporadically mutated. Only 1 out of every 60,000 babies have it. Audrey would battle eye conditions for the rest of her life and her vision will most likely be poor and uncorrectable. That means no contacts or glasses will help.
But I only heard one thing…
My daughter was not blind! Her vision may be poor but she could still see!
And then, I got another punch to the gut.
The doctor asked if we’d scheduled genetic testing. Um… Why? Why would we do that?
Turns out, aniridia is often associated with another syndrome called WAGR. That stands for Wilms disease (which is children’s kidney cancer), aniridia, genetal deformities and retardation. Audrey was at an increased chance of having WAGR. We’d have to get genetics testing right away and also schedule an ultrasound to see if she was born with tumors on her kidneys.
This scared me more than anything. Retardation? Cancer? WHAT? When would this end? When could I go back to just enjoying my beautiful baby girl? Would I ever smile again?
I’m ashamed to say there was actually a point around this time that I thought the answer to that question would be no. I could not imagine ever laughing or being happy ever again.
As I type this, I feel tired. Reliving it makes me feel very, very beaten down. But back then, I wasn’t. I was one determined Momma. I wanted to know everything and I wanted the answers NOW. Fortunately, the ultrasound came back negative, Audrey was not born with tumors on her kidneys. But I was warned, if she had WAGR, they could develop at any time.
So, it was a waiting game for the genetics testing. It would take 6 long, brutal weeks.
6 weeks later Audrey and I went back to the geneticist for the results. It was just her and I. I didn’t want my mother with me… I didn’t want my husband with me. This was something Audrey and I were going to face together… Just the two of us.
I remember standing in the room, holding Audrey in my arms when the geneticist walked in. She told me to sit down.
I lost it.
It was obviously bad news. I just knew it.
Thank God I was wrong!
The geneticist gave me the best news I had received up until that point. Audrey tested negative for WAGR. No tumors.. No retardation.
I’m not sure I have ever sobbed so hard in my life. It was the release I needed after weeks of tension and worry.
And on the drive home from the genetics appointment – I actually smiled.
Since then, Audrey has blossomed into a beautiful, smart, silly, stubborn, incredible six month old baby girl! She is developmentally right on track. She is grabbing at her toys and following us from room to room and smiling and laughing at herself in the mirror.
I am hopeful her vision will be strong. I pray for that every night. But my main concern right now is keeping her eyes healthy. With aniridia, Audrey has an increased chance of almost every eye condition imaginable. She already has cataracts in each eye and something called nystagmus, which is when the eye moves quickly back and forth. And, since her pupils are so big she will always have to wear sunglasses and floppy hats when she’s outside. Think about when you get your eyes dialated at the eye doctor. That’s how Audrey is all the time.
I also feel like I am part of a greater mission now. I will heal Audrey’s eyes. I will raise awareness and raise money toward research and ultimately a cure.
I have no doubt my daughter is on this earth to accomplish great things. If her vision is poor, those things may be a little tougher to achieve, but she will accomplish them. And I will be by her side the entire way cheering her on.
Yes, I may have gotten sucker punched.. Right in the gut.. And it hurt like hell..
But I’m ready to fight.
And this is one battle Audrey and I are going to win.
There’s an exciting project at the University of Georgia has the potential to prevent this sort of corneal blindness in Audrey and others, and there’s an urgency to fund this project. As Laura says, it’s critical to find a way to prevent corneal blindness now while there is still time to maintain the quality of life for Audrey. Will you help us fund the project? Here’s the link: http://www.visionfortomorrow.org/laura-cross. I’d love it if you could share this post on FB and/or Twitter or anywhere else you will, so we can circulate her story. Thanks to you!
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