When You’re Waiting For the Test Results

Hi Amy,

First I want to say that I’m a big fan. The Pregnancy Week-by-week and Smackdown really helped me as a first time mom, and I’m slowly working my way through everything again with my second pregnancy! I also love your blog, and read it all the time! Now on to my question.

Our big ultrasound was about a week ago. We were told that the baby was developing fine as far as anatomy goes, and we would be having our second baby girl! However, we were also told that there was an abnormality in the baby’s bowels, and that this abnormality has a correlation to babies born with Down Syndrome. Our OB-GYN suggested I get a quad screen test done before I leave that day. He explained to me that a QS only checks for probability, and couldn’t give me a definitive answer. He explained that a low risk of Downs would be something like 1 in 9000, and a high risk would be 1 in 100. My results came back as a 1 in 6 chance that my baby has Downs.

I am shaken and concerned of course, but I can’t think of a better family/support system for ANY child to be born into, than the one I have. I see the genetic counselor later this month, and I’m also scheduled for a level two anatomy ultrasound as soon as my vacation is over. My issue is that I want to be as prepared as I can for both me and baby, but I have NO EARTHLY IDEA, where to start my research and planning. Do you have any tips on where to look? Who to talk to? Where to go from here? I feel like my mind is in a spin, and I can’t seem to concentrate on anything. I feel that if I had a place to start, I could get a hold on things, and begin to deal with the situation. Trying to deal with this on top of my already severe case of pregnancy brain (why yes, that WAS me who left the house without a shirt on two days ago!) has me reeling. Any advice you can give me would be greatly appreciated.

Thanks!
Concerned in the South

Well goodness, HUGS lady. Obviously this is not an issue I’ve dealt with personally, but frankly there was no way I was going to let this question sit in the queue, gathering cobwebs. If there is anything I’ve learned over the (holy hell) SEVEN YEARS of writing this column at AlphaMom, is that we’ve got one of the best, smartest and KINDEST audiences on the Internet. So sometimes I just have to step aside and open up the comments for other people who have been there, done that, gotten the t-shirt and the gold star of ass-kicking, to take over.

I will say this: Whenever you are faced with a diagnosis that might fall out of the range of “typical,” the stages of Dealing With It can be similar. Shock and fear and a feeling of being completely overwhelmed and somewhat stuck/immobile. There can be a lot of guilt mixed in too, as you find yourself suddenly mourning…something. The loss of your expectations; the child you assumed you’d have.

And here’s where the Welcome to Holland metaphor first comes into play. Read it if you haven’t yet come across that one.

Then there’s guilt, because perspective! There are worse things than Downs or Autism or such-and-such congenital disability! At least you HAVE your baby or child and oh God, do you think your baby/child knows what you’re thinking? Do you think they know that you can’t look at their face or your growing belly without thinking about IT, the SCARY THING, the thing that dammit, you’ll make the best of it if you have to but it’s still not what you expected or wanted.

And you know what? It’s okay. It’s okay to grieve a little. It’s healthy. Allowing yourself to feel what you feel when you feel it is the best way to un-stick yourself from the low valley and get yourself back pushing up the hill. Along the way, envision each of the next markers and milestones (the genetic counselor, the anatomy scan, the potential final confirmation, etc.) as physical checkpoints on a hill, and focus only on the next upcoming one — not the whole overwhelming journey up and over into the unknown.

Like, when I run and I’m trying to push myself past my comfort zone, I’ll look at the horizon and pick a visible spot: A tree, a corner, and tell myself that I have to make it to that point before stopping. Nine times out of 10, I can run to that point and keep on running. But if I told myself that I had to run all the way back to my house, for example, or to some unseen point far away, I’d probably fail and give myself a lot of mental abuse for giving up.

I don’t know, but I guess I’ve approached our zig-zaggy journey with Noah the same way. First speech evaluation. First sensory evaluation. Developmental pediatrician appointment. Focus on the next thing on the calendar and to-do list instead of trying to wonder what things will be like next year, or high school, or adulthood, or or or etc. That’s a one-way ticket not to Holland, but to Crazy Stressville. Because even if the diagnosis is confirmed, you WILL grow into your new role, your new expectations, and find that this really is your new normal, and it’s just as fun and lovely and full of ups and downs as anyone else’s normal. It just maybe involves more acronyms and appointments, but there’s still plenty of the wonderfully mundane and “typical” mixed in.

So for now, work with what you’ve got and take it one day at a time. You will still have time to prepare and be a wonderful mother and advocate for this child even if you take a week or two “off” to process and wait for an official diagnosis. Buy some diapers and really cute onesies, if that helps. While you may feel like your future is deeply in flux right now, the fact that your baby girl will be adorable, amazing and cherished has never changed, and never will.

It also looks like BabyCenter has a wonderfully supportive message board for parents who are going through the prenatal testing process (and for parents who are preparing to give birth to babies with DS) and this welcome message contains a plethora of helpful links. Dip in, read, get your feet wet and maybe consider joining in when/if you’re ready.

And now? Readers? Can anyone chime in with any other suggestions? Websites? Blogs? Books? Support groups? Thank you!