Genetics On Speaker Phone

We missed a call on Thursday from our genetics counselor. That’s what happens every time I decide to empty my bladder. My phone rings. And it is halfway across the house. And don’t try to suggest that I take it into the bathroom with me. I can only use the speaker phone. On high. Because my phone fell on tile and didn’t win. “No, Caitlin, I’m not at The Falls. That’s just the acoustics in our only bathroom. And please don’t speak so loudly. The kids don’t realize I am in here. Peeing without an audience is like winning Powerball.”

I frantically called her back, but it was too late. She was out. I left a message and then replayed her message about ten times listening for clues.

“Mama, pwease turns your phone down. It’s hurting mine ears!” “Graham, I can’t. Remember? I broke it.” He thinks it’s cool to have a broken phone. Covered in box tape. “Mama, I love yours new cwacked phone. It’s like you got a beautiful twee on it. So pwetty!” Thanks, Pollyanna.

On Good Friday, she called again. I answered, put her on my louder-than-a-class-of-three-year-olds-eating-goldfish-crackers speaker, and got news. The news we had been waiting for …but it was what I had suspected deep down. Nothing. The test came back 85-89% negative for Angelman Syndrome. There had also been a miscommunication and we had received the cardiac results a couple weeks back. It was good news. They have no reason to suspect that Adelaide has cardiac tissue abnormalities. No need for heart scans. And we marked one more syndrome off our list.

What’s the next step? We gave verbal approval to seek insurance approval for the epilepsy/seizure panel, which would completely rule out Angelman and possibly give us our answer about another syndrome. More of Adelaide’s frozen DNA would be sent off. We don’t know if this next step will happen. Your guess is as good as mine. But I feel compelled to be transparent about our genetics journey. Maybe it will help someone else. I don’t know.

I do know that it must be in Mom DNA to miss calls while peeing. If they want to pay me in phone screens, I will gladly participate in a research study.

PS: Thank you, television, for allowing me 55 seconds of freedom at least once a day…

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2 thoughts on “Genetics On Speaker Phone

  1. […] I locked a tiny bit of hope away and it kept me going through the bloodwork and waiting and phone tag. Even though it was unlikely that we would get answers, I still thought we might learn something. […]

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  2. […] what Adelaide would’ve been like without a genetic abnormality…if that’s even what happened. We honestly have zero clues about what caused Adelaide’s disabilities. But I don’t […]

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