Everyone has expectations about their pregnancy, their birth, and their child rearing experience. It’s probably a safe bet that it’s a rare moment when things go as completely as planned.
For me, none of it did. At 16 weeks pregnant, I had a (fairly) routine blood test done. Two days later, my midwife called and said that based on the results, the baby I was carrying had an elevated risk of having Down’s syndrome. We scheduled a sonogram with fetal and maternal health specialists and a genetic counselor for two days later. Nothing was found, but they asked us to come back a month later because they were having difficulty getting good images of the baby’s heart. We leave happy that our risk has been downgraded, and come back a month later.
At this appointment, they found a “marker” for a chromosomal abnormality, a calcium deposit in the heart known as an echogenic focus. Our risk calculation shot way up, but I declined the amnio. Three days later, after many tears and worries, I changed my mind, and went ahead with the amnio. For me, knowing and dealing with the repercussions of the information, whatever it was, seemed important to do before our child was born. Four days later, we had preliminary results, and our daughter was diagnosed with chromosomal abnormality, Trisomy X, which means she has an extra sex chromosome.
In the time surrounding that diagnosis, I waded through quite a few emotions, and wished I had something, anything to guide my reactions and next steps. Here’s what I wish someone had been there to tell me:
It is okay to be upset about the “loss” of your perfect child. But here’s what no one told me: that baby in there? Still your perfect child. My daughter brings me joy that I never thought possible. In the weeks following our diagnosis, there was a mess of confusion with doctor’s appointments, screenings, and no one thought to tell me that it was okay to be sad. But it is. Your whole future just changed. You’ve gone from “perfect baby” to automatic “special needs” baby. Be angry, be upset, and embrace your emotional response.
Our genetic counselor didn’t have a lot of information for us at first, but worked very hard to make sure that we had some within a few days of getting our results. The internet is also a great (but sometimes) scary place where everything you want to know about anything is available. Medical journals can have difficult language to wade through, but be patient with yourself. You’re about to be an expert.
…but know when to step back
Too much information can be overwhelming, especially when a lot of it is negative information.. After three days of reading numerous websites that featured worst case scenarios, I was convinced my daughter wouldn’t breathe, wouldn’t be able to eat, would never talk or read, and would never smile. I dismissed the parts that said anything good, and focused on the bad. Thankfully, right now she’s just like every other baby.
Be selective about who you tell
I blabbed to too many people that we were going in for an amnio, and then I felt obligated to tell them the results. Sometimes I lied about them, and that was okay for me, too. Make sure that the people you do tell will support you, even if that just means being a regular friend, without the weird “oh you have a baby that’s not like every other baby” vibe.
Facebook groups, message boards, forums, anything. Find other parents who deal with the same issues. And visit those sites as often as you need to. For me, it is not every day. I get overwhelmed with information about what might happen, but I love knowing that the support from people who fully understand will be available when I need it.
Investigate local resources
Early intervention programs, pre-K, therapists, conferences, local support groups, etc. Find out referral processes for government run programs. Find a pediatrician that has experience with children who share your child’s condition.
Have a response ready
“Oh, is she crawling yet?” “No, not yet!” [big grin] “Nope, but she has figured out how to suck on her toes!” [big grin] People are naturally curious. They want to give you the opportunity to gush about your child, so do it, on the terms that do celebrate your child’s achievements.
Enjoy your baby
I didn’t do enough of this at first, and I think that’s natural too. Along with the normal terror of expecting a new child in the house, you now have a kid that’s a total wildcard when it comes to things like being able to eat properly, meeting physical development milestones, potential seizures, reading, speaking, social anxiety… the list of things I worry about for my daughter goes on and on. I wish sometimes that I could “unknow” what’s different about her and just exist with her. And then, she smiles, and laughs, and melts my heart like she’s done every day I’ve known her.