Playful Rooted

Doctors can tell us nothing.

The maternal-fetal specialist we saw was 100% certain that our baby had a chromosomal defect. One hundred percent certain. She told us, verbatim, that never in 30 years had this ever been anything except a chromosomal defect.

Well, after a blood test, a karyotype test, and a microarray test all came back totally NORMAL, we are now 100% certain that this is NOT a chromosomal defect.

That sounds like it’s good news, right? It should be good news. Unfortunately, all these normal results just muddy the waters even more. We know our baby has issues. And we don’t. know. why.

Although it’s not chromosomal in nature, this could absolutely still be a genetic defect. The tests we’ve had rule out hundreds of conditions. But both geneticists we’ve consulted have warned us that there are still THOUSANDS more genetic disorders this could be. And a single-gene defect could be relatively harmless, or it could be even more devastating than a chromosomal defect. We simply don’t know.

It’s torture.

We had a fetal MRI done to determine whether the CSP, the part of the brain they couldn’t find on several ultrasounds, was ultimately there or not. Afterward (after days of anxious waiting), we met with a pediatric neurologist, an expert in this field who works with baby brains every single day. Her words exactly: “I’m not convinced it’s there, and I’m not convinced it’s not there.”

Nothing.

We had an integrated consultation with several specialists, including a geneticist, a neurologist, a neonatologist, and a high-risk OB. After an hour-long conversation, we left with BARELY more information than we already had. We know our baby girl has some things going on inside. We don’t know why or what this means for her. Or for our other kids. Or for us.

Nothing.

Every day, every single hour, I go back and forth from being totally convinced that this precious girl is going to die inside me to totally convinced that she’s not; that she’s going to be fine. One second, I’m hyperventilating, imagining the absolute worst; the next, I’m picturing our daughter growing up alongside her brothers. It’s the most grueling pendulum swing. And no one, none of the experts, can give me any information about what to expect. No one knows.

There’s just nothing.

Turmoil: a state of great disturbance, confusion, or uncertainty.

I am in constant, unrelenting turmoil.

And in the meantime, cruelly, life must go on.

We still have to buy groceries and make dinner and fold the laundry and pay our HOA fees (not to mention our huge medical bills). Our boys still need to be fed and played with and read to. We somehow have to get out of bed every morning. Ben has to go to work. The daily tasks have to continue. How can that be? How can we do this, like this?

We’re waiting now for the results from a fourth level of genetic testing. This round will check for single-gene defects that could be causing our baby’s brain, heart, and/or kidney issues. But currently, there are around 5,000 known genetic disorders, and only about 2,000 of them can be linked to a single gene. That means there are over 3,000 genetic conditions out there that scientists just don’t know the cause of, even with all the tests that exist in the world of genetics.

With all the hours and hours and hours of uncomfortable research I’ve done over these past few weeks, I’m amazed that anyone has a healthy child, ever. I’m amazed that we have two. Two! There are so many things that can go wrong in genetics. It seems utterly impossible for anyone to come out unscathed.

The fourth-level test, which right now feels like our last-ditch effort to find answers, won’t come back for a month. Another month. I don’t know how to do this for another month. Somehow I have to keep waking up every morning, keep eating and breathing and trying to keep life normal for the boys. Meanwhile, I alternate between feeling like every nerve in my body is on fire and feeling like I’m floating facedown in the middle of the open ocean.

One day at a time, I guess. One hour at a time. One breath at a time. Until what? I don’t know. I don’t know what or when or how or why. I don’t know anything.

No one knows anything.

Nothing.