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On Being "High Risk" From Day One

One of the most common and well publicized birth defects in the world are those that fall into the category of neural tube defects.  You might not have heard of the category but I imagine many people have heard of Spina Bifida, which is just one of these conditions.

It is because of these neural tube defects that prenatal vitamins include folic acid and they have a second trimester ultrasound screen now.  The risk for most women is low, especially if she takes folic acid in the early stages of pregnancy, but it’s something that the healthcare world has taken notice of in the past several decades and has pulled closely into prenatal testing.

This is of particular importance to me, because I have a neural tube defect, which means that my children are at a higher risk for having one themselves. And this is why my pregnancy was deemed high risk from it’s very first day.

I was diagnosed with Chiari Malformation in 2006, which is a condition where my skull and brain didn’t form quite the right way and over time the lowest part of my brain herniated out into my spinal canal.  It was never a problem when I was growing up, I led a totally normal life until I developed crushing headaches and vision problems just after college.

The connection between Chiari and the neural tube is not fully understood, but it is thought to be because of a tethering of the spinal cord at the very bottom of the spine that causes more tension on the spinal cord and the brain.  And because I have a skin marker indicative of a neural tube defect on the bottom of my spine, in combination with several other signs and symptoms, there’s a high chance that my spinal cord is tethered.  Imaging is not all that great at confirming some of these tethers, so we just haven’t bothered with any extra MRIs at this point.

Because of my NTD, in the next few weeks we’ll be meeting with a geneticist to discuss our relative risks and determine what screenings we want to do.  We may be undergoing genetic testing ourselves to find out exactly what kinds of things we carry because I am the only person in all of my family with this disorder.  It’s typically genetically linked, but there is some evidence that it can be spontaneous.  We just want to be informed and my doctor strongly supports having a geneticist join our care plan.

To control the risk as much as possible, my doctor put me on 10 times the recommended daily dose of folic acid and I have been taking it for about 6 months now.  My OB is also a high risk specialist so she’s going to be following me to monitor how this will affect my health, but also to determine if the baby develops the same issues I’ve struggled with.  It’s a little crazy to be high risk from the instant that you conceive, but it’s something we’ve long anticipated.

My neural tube defect wasn’t noticed for so long that I know we will probably end up being hyper-vigilant with our child and future children, but I also know that it’s something we can handle if we have to.  It doesn’t make it any less scary, but I’ve grown to understand that parenting is going to be scary no matter what.

Here’s to hoping that the genetics consult is smooth and painless and that the baby gets my husband’s neural tube instead of mine.

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