One year ago today

“It’s Down Syndrome.”
I heard the voice say on the other end of the phone. Her voice had a soft melody to it, with the sentence ending on a slightly lower note than the beginning.  I had been waiting anxiously, eagerly, for this phone call since I had the CVS three days before.  I spent the weekend researching all I could regarding increased nuchal translucency and enlarged bladder.  Most of what I read terrified me. In all that I found, aside of the obvious desire for normal results, I hoped it was Down Syndrome.  The other likely scenarios were Trisomy 18, which would have brought a harder choice or megacystis, where the baby would die.  At that point in my pregnancy, I could not imagine carrying a baby to term that I knew would not survive.  Down Syndrome was livable, not what I had pictured, but totally livable.
“Ok. Ok.” I said, exhaling, trying to calm my racing heart. “That’s ok.  It’s not Trisomy 18.  My baby can live.”
“Do you know what you want to do?” my midwife asked in a non-judgmental way.
“I want to continue.  I need to talk about it with Chris, but we discussed the scenario, and I think we’re ok.”
“Do you want to come in right now and talk?” she asked.
“No. it’s ok.  I have three more patients to see anyways.  It’s ok.”  I was surprisingly calm, no tears.  We said our good-byes after she told me I could stop by afterhours if I needed to.
As soon as I got off the phone, I called Chris and told him the news.  At first I heard what I thought was disappointment in his voice, but realized later it was simply surprise.  Based on the nuchal translucency, we were given a 70% chance that the baby would be chromosomally normal. In his world, those are pretty good odds.  In mine, I knew what those numbers really meant. We agreed to talk more when I got home. I then went and saw my next few patients all while keeping it together as this huge life changing news rattled my head.  Little did I know that this would be practice for what was to come.
One year ago today I learned that the baby I was carrying had Down Syndrome.  I took the news in stride.  Tears came later when I thought good and hard about how my life would change, but I didn’t doubt my ability to raise my child with love regardless of her diagnosis.  Over the next few months I prepared myself.  I read memoirs of those raising babies with Down Syndrome.  We met with a special needs lawyer to get our finances in order and prepare for the future of our child. We attended our state conference for Down Syndrome, learning about the local services, preparing for potty training and meeting parents of children with Down Syndrome.  We found a pediatrician that was very familiar with Down Syndrome, researched day cares accustomed to Birth to Three and started collecting names of good therapists.  We embraced the diagnosis.
Perhaps you can understand the enormity of my loss. Sometimes I feel like I have to justify my grief- yes, I’m sad even though she had Down Syndrome.  Yes, I’m sad even though she would have been very ill.  Yes, I’m sad even though we were told she might die.  I know I don’t have to justify my grief to most of you; you are all so kind.  I think I’m simply processing the special injustice of saying yes to so much and not being even given the chance to parent this baby beyond the NICU.
What injustices do you mull over in your mind?

Numbers by Mabel…

36+1 her chart reads. That gestational age has forever burnt a mark on my brain. The amount of time I was pregnant with Mabel. I want to tell her what a special time this is. Every day is a gift. Something I didn’t realize until I had no more days with Mabel on the inside.

March 11, March 21, March 1. Due dates for the new OB patients I am seeing. My voice catches as I say the dates out loud to the expectant women. Mabel was born in February but her entire pregnancy was centered around her due date- March 14. I know what it’s like to look forward to March, I want to tell them. If I knew what I know now, would I have looked forward to March in the same way?

Reports of normal nuchal translucencies litter my in basket. 1.9mm, 2.0mm. Oh, the relief in those numbers. This is normal, I want to tell them, this normalcy is a gift. I have a new appreciation for normal.

These numbers cross my path throughout the day. Mabel’s numbers. Mabel was here… is here…

The complicated lives of others

It was the weekend I was waiting to learn the results of my CVS.  That weekend I had two baby “sprinkles” to attend.  Small little gatherings to celebrate pregnant friends who were having their second or third child.  A smaller form of a baby shower.  No one knew I was pregnant, let alone pregnant with a potentially complicated baby.  One of the sprinkles was for a colleague- they had been told I was “out sick” the day I had my CVS, so I let them know the truth.  It was an easy conversation with them, all midwives, because I didn’t have to explain that a 1/3 chance of something being “wrong” was not a good chance.  They all knew what those numbers meant.  They all knew what stillbirth, trisomies and birth defects meant to a midwife.

The second sprinkle was for a friend.  I thought it was going to be me, her and another friend.  When I showed up, they told me two more were coming.  I took that moment, before the others came, to tell them I was pregnant.  Before I could get the words out about my situation, they were squealing and hugging me.  I had to tell them glumly, thank you but it might not turn out ok.  I explained about the abnormal testing and how I was waiting for the results.  They understood.  And shortly after, the two others arrived.  The first was a friend of the sprinkle recipient, who I knew and she is very nice.  But I wasn’t expecting her to walk in big and pregnant too.  I might have known, but I had certainly forgotten.  It knocked the wind out me.  And the final guest was someone I hadn’t met and she walked in with a relatively new baby.  The one other person there without kids, my friend who I had just told about my circumstances, leaned over and whispered to me “is this a nightmare for you?”  Yes. I was glad to have her there.  She got it.

I spent much of the brunch sprinkle talking to that friend, letting the other three women talk about families and babies.  But there was one point when the women with the baby in her arms started talking, almost tearfully, about how hard it was having two kids so close together, how she wished she had waited a little longer before having another.  I couldn’t take it.  I thought about me who would love to have just one baby in my arms, let alone two.  I thought about people who struggle with infertility.  I finally piped up and said, trying to put as polite and positive spin on it as possible, “At least you have two kids.  I know my sister wishes she could have another child close in age to her daughter but it hasn’t happened yet.”  I threw my sister out there instead of me thinking I might come across less snotty.  I don’t remember her response, but she did quickly get up to go to the bathroom.  I’m pretty sure she went there to cry.  I had such mixed feelings about it.  I definitely felt bad I made her cry.  She probably had postpartum depression.  I even apologized to the guest of honor, saying I think I made your friend cry and I’m sorry about that.  But I couldn’t apologize to this new mom.  I stood by my statement.  Everyone has her own battles, but a little perspective might be nice.  We don’t know the complicated lives of those we are talking to.  I could have had five miscarriages.  I could have lost a baby.  I could have no partner and be wishing for one so I could start a family.

My words might be truer than I even know.  This woman could have a very complicated life.  She could have a troubled home life.  She could have a parent dying of cancer.  She could be bankrupt.  I don’t know.  But at the time I just wanted to scream, look at all the good you have!

Some could say the same for me- be happy with what you have.  Yes, I have a loving partner, a good job, stable finances, supportive family and kind friends.  I have the ability to get pregnant and the experience of pregnancy.  I have the hope that I might get pregnant in the future.  These are things I am grateful for everyday.  But I have also buried a child-my only child.  All these wonderful things will not bring my baby back.  They can not fill the hole in my life that was meant for Mabel.  I want that woman to know that I was saying those words worried about the fate of my unborn baby.  I want her know that my worries came true.  I want her to know I still think about that day.  I want her to know that I might have seemed mean and insensitive, but it was for a reason.  I want her to know I said those words while thinking of the 1 in 3 chance than my baby would have a trisomy, have a major birth defect or die.  I want her to know that I had a baby and she died.  I want her to know I held a baby in my arms too, but I held mine as she took her last breaths.  I guess I just want her to know my complicated life.

The ultrasounds…

13 weeks:  Increased nuchal translucency and enlarged bladder.

15 weeks:  bladder still enlarged

18 weeks:  bilateral clubbed feet, but otherwise all normal.  Ureters dilated but with normal kidneys and now normal bladder, not a huge concern at this time

20 weeks:  followup anatomy (couldn’t see the hands previously)- normal hands.  One foot looked “less clubbed” but still clubbed

22 weeks- normal fetal echo! Clubbed feet

Next up: checking growth and re-evaluating anatomy in 5 weeks.

I feel like I’ve gotten through the hard ultrasounds!  The level II (18 weeks) was nerve-racking.  But seeing mostly normal anatomy, I felt my first sense of relief.  Clubbed feet were minor compared to my other worries.  And having a normal level II meant that the fetal echo might be normal too.  Each ultrasound I was eagerly awaiting and worrying over.  Time passed slowly.  But after that normal anatomy scan, I could see the future- at least a little.

And then the normal fetal echo! I was mentally preparing myself for a baby that needed open heart surgery.  So now I’m adjusting to the fact that heart surgery is unlikely.  What a nice adjustment to be making!

I still worry about bowel issues, about growth, about loss.  But I think I’m ultimately feeling optimistic!  Baby is passing tests so far! Go baby!

The first clues…

I was 12 weeks and 6 days.  Had my first trimester screen ultrasound- more as a formality than anything else.  I knew we were testing for risks of Down Syndrome and other trisomies.  I was mostly worried about the other trisomies and the risk of stillbirth associated with them, though I was still technically “young” and had no risk factors.  This would be my last marker of the first trimester- it was going to tell me everything was fine, so I could be a little more open about the pregnancy.  Tell work. Tell friends.  I had told my family earlier that week, because I was lucky enough to see them almost all together- rare since they live in California and Massachusetts.

The sonographer was having trouble getting a good image of the neck fold- the nuchal translucency.  I have since learned that often is code for “something’s wrong.” And they bring in the doctor.  You would think I would know that, being in the field, but I was happily oblivious looking at my moving baby who finally looked like an actual baby.  The doctor told us they were concerned because the nuchal translucency was thick.  I asked what my numbers were- I had bloodwork done ahead of time so they could calculate the numerical risk. The measurement was so thick, it was off the charts- a whole new set of numbers was given to me.  1/5- chance of chromosomal abnormality, 1/10- chance of normal chromosomes but other major birth defect.  3%- chance of stillbirth/loss even if everything else is normal.  Do the math and that’s a 1/3 chance of something. I’m used to seeing 1/200 as an abnormal result, so to me, 1/3 meant something was going on.

Our options for further testing were blood test with 99% accuracy. Or CVS with essentially 100%.   Blood test takes 1 week. CVS takes as little as 2 days for preliminary results.  Blood test is accurate for trisomy 21 and 18, less accurate for trisomy 13.  CVS can test for other genetic issues, like Noonan’s syndrome or SMA, if chromosomes were normal.  I never thought I’d opt for invasive testing. But I also never thought I’d have abnormal testing.  We opted for certainty.  I’m a need to know kind of person and my husband thinks the more info the better.  And the 1/3 chance seemed a lot higher to me than the 1/400 chance of miscarriage.

We did the CVS the next morning.  I had to take the day off work- which meant I had to announce to a few important work people that I was pregnant and that I had pretty abnormal testing.  Not the way I had envisioned announcing my pregnancy.  I arrived with a full bladder, as instructed.  I asked the sonographer if anyone ever peed on the exam table- because I follow directions well and filled that bladder to the brim.  She said no one had yet- which made me think I was going to be the first!  She also had me empty my bladder after one look at it under ultrasound.  It took 3 attempts to get it down to size.  I apparently have an amazing bladder! The CVS hurt.  They numb the skin- so I don’t feel the needle go into the belly, but when that needle hits the uterus- ouch! It took less than a minute, but I knew the whole time it was in my womb.  I was trying not to breath so I wouldn’t move, so the needle would stay exactly where it needed to be.

I was instructed to take it easy over the weekend.  I bailed on the triathalon I had signed up for the next day.  I went to watch and cheer, thinking the whole time about the hole in my uterus- willing it to heal.  I said “stay baby stay” over and over again silently in my head. I sat on the couch and waited for Monday and my future to come.