Search
  • Autumn Plourd

Brox’s Genetic Testing

Written in October 2021, just after we received the results of Brox’s genetic testing for Glycogen Storage Disease.

Brox Lynn Plourd, one month old

One year ago, I took a pregnancy test, and the results came back positive. We were having a third baby, and it was exciting! But it was scary too because the world was a mess, the future was unknown, and even though we planned for this baby, the thought of raising another child with Glycogen Storage Disease was overwhelming.


Ever since Blythe was diagnosed in July of 2019, we’ve known that any child we have has a 25% chance of having GSD. We also knew that Blythe is a mild version of the disease, but a future child’s GSD could fall anywhere on the spectrum of severity. That’s a scary roll of the dice!

Is GSD the end of the world? Certainly not. But I wouldn’t wish it on anyone, so we prayed.


I prayed for baby’s health, and that she’d be strong and a leader for good. And the more I prayed, the more peace I felt that no matter which way it went, we’d all be ok.

On June 12, 2021, she was born in a room full of amazement (more on that in a future post) and to me she was exactly perfect. I looked at her and thought she was just what God wanted her to be, and I can’t wait to see her story unfold.

Due to the possibility that she might have GSD, her blood sugar was monitored every few hours and it was overwhelming, but I held her in my arms and whispered a promise.

I will protect you.

Months later, after making a dozen calls between Radys and insurance, I was told her genetic testing would not be covered.

Two months old.

I was devastated. On that 12th call, when it was confirmed by insurance that her testing pre-approval was denied, I tried not to, but couldn’t keep the tears out of my voice. And the empathetic woman on the other end crumbled with me.

She tried to comfort me from miles away. She said she understood my frustration. She wished there was something she could do. I know it’s hard. I know you want what’s best for your child.

Nice words, but really I just wanted off the phone. I knew it wasn’t her fault, she didn’t make the rules and she didn’t deserve the heartbreak I was causing. I assured her I knew it was going to be ok, and we said good bye.

I cried that day until my eyes hurt. Then I cried some more. There are days I feel so much strength that I can be super resilient, super determined, super mom! And there are other days that I would most definitely give up if I thought it was an actual option.


I picked up Brox, just a few months old, and clung to her while tears ran down my face. Holding her, rocking back and forth, and praying out loud. I told her she’s perfect. Then I put her in her crib for the night.


Lord. Please help me protect her.

Three months old.

A few weeks later, after a particularly stressful day, I went for a run. When I got home, the kids had just gotten the mail and handed me a letter from our insurance. I assumed it was related to the pregnancy, but it wasn’t.


I turned to Blake and tears ran down my face, it was a letter from our insurance saying the code was changed and her genetic testing was approved! I will never know what led to this change, but I thank the Lord it did!

Getting blood drawn, never fun.

Two weeks later Brox’s blood was drawn at Radys and three weeks after that, while changing her diaper, I got the call.


The geneticist, a woman who loves to small talk but isn’t particularly good at it, started off with the howyabeens as if I wasn’t sweating bullets at the edge of my seat.

Right where we were when the call came through. With this sweetie face looking up at my teary eyes.

Oh Jesus. Please let me accept this, whatever the outcome.


“We tested her for Glycogen Storage Disease Type 9b. And if you recall, Blythe also had some trace amount of Glycogen Storage Disease Type 6, so we tested Brox for that too…”


Yes, get to the point woman. Tell me what our future holds!


“Well the genetic testing did not find any mutated genes. Brox does not have Glycogen Storage Disease. In fact, she’s not even a carrier.”


Aaaaaaaaaaah!!


I cried again. I’m crying now! All words escaped me. Praise the Lord was the only thing I could think of.

Wow. Just, wow. A total relief and an answer to countless prayers! I immediately called Blake, and then my mom and dad, and we all cried together over the phone.

Now you can live until you’re a hundred without any worry about GSD. Praise the Lord!

But then something I can only describe as a Survivor’s Guilt-like emotion hit me. We still have Blythe and she’s all alone with this.


Obviously this was the scenario we’d hoped for, but how would she handle the news that her littlest best friend got to be the thing she wanted so badly. A little girl that got to eat sugar, but also got two slices of pizza at dinner, or any color snow cone on the menu? Or licking the spoon when her class makes cookies, or butter on her toast, or warm kettle corn at the rodeo?


It’s heart wrenching for sure, and likely to remain a sensitive subject around Blythe…


Blake and I broke the news to the girls and Crosley has thanked the Lord every night since that “Brox is not on a sugar-free diet like Blythe”. Ouch.


But Blythe. With her sweet sweet little heart, is so happy for her sister and sits content in knowing that she is the only kid in the house that occasionally gets a visit from the Sugar-Free Fairy.

When Blythe gets down about her diet, the sugar-free fairy makes a surprise visit, leaving a gift on the door step. Seeing this smile back on her face melts our hearts.

442 views0 comments

Recent Posts

See All