5 weeks ago... learning our baby has Down syndrome

Five weeks ago our world changed. 

That sounds dramatic, but it’s not an exaggeration. In late February I was 15 weeks pregnant and had been waiting two weeks for my NIPT test results to plop into my online portal.  I wanted to know boy or girl and I was getting antsy! On a cold Thursday morning, I got a call from my MFM doctor about the NIPT. Getting a call from a doctor about test results is rarely a good thing. This NIPT test screened for gender chromosomes, but also the likelihood of trisomy 13, 18, and 21. Hearing a generic voicemail about having to go over the results with me gave me 6 hours of phone tag and time to imagine the worst possible scenarios. Trisomy 13 and 18 do not generally have wonderful prognoses.  Any iffy test results could alter what we envisioned ahead. 

Finally, the doctor was on the other end of the line: “I have your results, I’m so sorry….” She trailed off. Sorry for? My mind raced and my heart thumped. “Your baby has a high positive predictive value for Down syndrome.” Immediately I felt relief.  I would meet this baby, alive.  I wasn't walking toward "incompatible with life."  Then another realization hit: having a baby who potentially has Down syndrome still turns our world around.  I haven't had a child with special needs before. The best word that I can pick for what immediately happened to my mind was whirlwind. 

The doctor continued on discussing test reliability, and what the pregnancy would look like ahead, offered termination (real quick hard pass on that one, this is my baby!), and some more immediate next steps, namely a meeting with the genetic counselor and decision on whether to confirm diagnosis with an amniocentesis.  Oh yeah, and toward the end I asked the gender, realizing that so much emphasis had sat on this screening result; "Your baby is a male."  A boy.  Andrew gets a baby brother.  The boys won the tie breaker!  I have a sweet baby boy, who likely has Down syndrome.

When I got off the phone, I felt a buzz of information, knowledge, and a weight of knowing news that nobody else knew. I knew something pretty significant about my baby that only I knew.  I shared the news with my husband and we began our processing...

The next day I had an hour-long appointment with Amy, the genetic counselor. She was warm and kind, in all the right ways. We discussed much of what my MFM doctor touched upon but this time we went in-depth. We discussed how very reliable the screening test is, but that is not a diagnostic test. I was given the option to get an amniocentesis or monitor the baby via ultrasound to possibly confirm diagnosis that way.  Problem was, at every ultrasound before this (I had many) the baby had zero markers for Down syndrome. But the decision was mine and mine alone whether to proceed with the amnio.

Regardless, MFM would regard the NIPT as a true positive and we went over what to anticipate throughout this pregnancy: many anatomy scans, a fetal echocardiogram, growth scans, NST tests, and biophysical profiles done on the baby.  She gave me local and state resources for support, and then talked at length about the amnio procedure,  Throughout our hour-long talk, I jotted 4 pages of notes.

As our call ended, I gave my decision to get the amniocentesis done and was told a scheduler would call to set up that appointment as well as an early anatomy scan.  By the end of the day, I had my next MFM appointment scheduled for the following Thursday.  6 days away.  I spent the next week researching, planning, worrying, and beginning to unravel the gravity that all of the news given in the last 24 hours held.  Our lives very well may be shifting.  

While that felt unsteady and my mind was spinning with new information, I also felt peace.  For the last decade, I had researched and hoped to adopt a child with Down syndrome, never imagining that I would carry one. I felt both prepared, a little bit honored, and also absolutely unprepared.