D&CDiagnosesStoriesTurner Syndrome

Giving Sorrow Words

TFMR for Turner syndrom Ending a Wanted Pregnancy

Though the act of scheduling the termination—and the thought of actually showing up voluntarily to have it done—felt impossible to me, I didn’t ever really doubt our decision.

I knew what we had to do, even though the thought of doing of it broke me in a way I didn’t think I could feel broken.

 

By Roseanne

It was a Tuesday, my day off, and naptime when the phone call came. I was reading one last book to our daughter, cuddled up under a blanket in our bed. I didn’t recognize the number, but it was local, and I knew that maybe it was about the genetic screen results. I answered, and it was my doctor.

You always know it’s not good news when your doctor calls you personally.

Turner syndrome. It’s 50/50,” she said gently, reminding me that these results were just a screening, they were not a diagnosis. My doctor asked what I wanted to do next (she always asked, she never told us what to do). I wanted to find out more, whatever we had to do to get a clear answer. My doctor was kind and helpful, and went out of her way to get my information over to the advanced fetal care center at the hospital, the same hospital where I had my living daughter two and a half years earlier. We got an appointment for an ultrasound and CVS testing two days later.

Waiting for the prenatal testing appointment

Those 48 hours felt eternal.

I did the thing you’re not supposed to do: I googled everything I could about Turner syndrome. I’m a speech pathologist, and I was sure I had seen at least one patient with Turner at work, but couldn’t recall any details. My first thought was that it wasn’t “that bad,” as far as genetic diagnoses go. What I read mostly confirmed that, though heart disease and endocrine/fertility issues are certainly not nothing. What shocked me was the fetal prognosis. An estimated 99% of fetuses with Turner syndrome do not survive to term.

I read medical studies discussing outcomes and prognostic factors. My search turned up early ultrasound findings with Turner syndrome, and the differences between Turner syndrome with and without mosaicism. I read about all the pitfalls of NIPT screening for chromosomal anomalies, hoping that we’d be on the right side of that 50%.

The day we had our CVS, our prenatal testing

We were told that we’d meet with a genetic counselor first, and then have an ultrasound and CVS testing done afterward. But when we arrived, we were told the counselor wanted the ultrasound done first.

We went into the ultrasound room with a very nice young technician. We saw our daughter (we knew she was a she, even though we hadn’t wanted to find out but now we knew Turner syndrome only occurs in girls) up on the screen, the curve of her little body, tiny hands, tiny feet crossed just the way our older daughter crosses hers. And because I had read all those articles, because I remembered what our daughter’s ultrasound looked like, because I knew what markers they were looking for, I knew before we heard a word from the doctors that we were not on the right side of that 50%.

The tech was silent. She left the room to review with the radiologist, and I started crying. My husband, ever the optimist, tried to reassure me– “wait to hear what the doctor says.” But I had seen what they were going to see (or at least some of it, I would find out later). The radiologist came in and said the words “elevated nuchal translucency, pleural effusion” and looked again, while I tried and failed to keep it together.

Then we met with the genetic counselor, who was very nice, but I hated her as we sat there and went over probabilities and “choices.” I could tell she didn’t have kids. She didn’t know. She could be kind, but she couldn’t know.

We decided to proceed with the CVS, because even though our NIPT screen results combined with the ultrasound findings pointed strongly to Turner syndrome, it still wasn’t a diagnosis. I had to know for sure. It involved another ultrasound, which guided where they inserted the needle. I tried not to look, just tried to lay there and breathe. But I did look, at the end, enough to see her raise a little hand. It was the last time we’d see her. “She waved to us,” I said to my husband when the doctors left the room. That’s when he broke down.

Waiting for a diagnosis

I don’t really remember the next few days. We called our parents. I went to work on Friday. I cried a lot, and tried not to cry so much. And I decided to tell some colleagues exactly what was going on, even a few that didn’t yet know I was pregnant. It was a relief for people to know.

It was a different kind of relief than I was expecting. I passed into the second trimester, that time when you’re supposed to feel relieved knowing that your chance of miscarriage was pretty much nothing, and you can start joyfully spreading the news. But everything was different now.

Getting our CVS results back, deciding to terminate the pregnancy

On Monday, we got the preliminary CVS results back, and it confirmed what we already knew. Turner syndrome.

I ended up feeling incredibly grateful for the genetic counselor, who I hated on that horrible ultrasound day. She contacted us with the results, and once we made our decision, she sent all the information over to the family planning center at the hospital and initiated the phone call to schedule the termination. I don’t know how I could have done it otherwise.

Though the act of scheduling the termination—and the thought of actually showing up voluntarily to have it done—felt impossible to me, I didn’t ever really doubt our decision. I knew what we had to do, even though the thought of doing of it broke me in a way I didn’t think I could feel broken.

I couldn’t face the agony of waiting for an inevitable miscarriage, or even worse, a stillbirth. I’m almost 38. I wanted the best chance possible for another healthy baby, and that meant starting over as quickly as possible.

We had to wait ten days for the procedure. That felt like torture, but it also allowed me time to process what was happening. To be with the little life inside me a few days longer. To tell her how much I loved her. To feel those first flutters of movement. To say goodbye.

Finding solace in others’ stories

I read stories on the internet, on this website, from other parents who have gone through this. And heard stories from friends, as we shared what was happening, who had gone through similar things. It was helpful, in a way, and made this particular, painful loss feel less isolating.

In reading the stories of others, I found things to be grateful for, in the small way I could. This gave me strength to take the next steps.

I was grateful for the NIPT screening, which led us to an early diagnosis. I was grateful that it turned out I could do the termination at 14.5 weeks in one day, with medication dilation. This meant I didn’t have to have laminaria inserted, which would have made the procedure two days instead of one. I didn’t think I could show up to end my pregnancy twice. And I was grateful that it could be done under general anesthesia so I wouldn’t have to be aware of what was happening.

I was grateful for family, friends and colleagues who were supportive and understanding, who I could tell the details of our situation without fearing judgment. And I was grateful for my husband, for being my perfect counterpoint, for allowing me space to process and grieve and be angry and imperfect, even as he worked through his own grief. I was grateful for my living daughter, for the vividness and immediacy of her needs, which forced me to be a functional person when I felt like falling apart.

Even my young daughter knew something was wrong

Through all this, my daughter knew something was wrong. Kids are perceptive, and our daughter is particularly sensitive. She’d seen me cry for the first time in her life. “Why are you sad, Mama?” she’d ask, and pat my face.

There was no way to explain it to her, even though we’d told her she was going to be a big sister, so we didn’t. We just stopped talking about the baby, and then she did too. I don’t know if that was the right thing to do or not.

The day of the procedure, I gave her a hug and a kiss and told her to have a good day at school, as normally as I could. But she looked right at me and said, “You have a sad voice. Are you sad, Mama? Tell me.” I just squeezed her tighter and said, “I’m okay, baby,” even though I wasn’t.

The day of the termination

I was grateful to live in a state where I could get a termination at a hospital, where it would be covered by insurance. I was grateful not to have to walk past protesters on my way to say goodbye to the baby that I wanted and loved so much.

But even here, in liberal Massachusetts, checking in for the procedure felt like checking in to prison. We had to turn over our IDs, and walk through several levels of security. My husband couldn’t go back with me for the pre-operative part of the appointment when they went over the procedure and had me sign the consent. There were two consent forms, one for the hospital and one for the state. The state’s form had a section, which the doctor glossed over but I read anyway, to certify that I understood that I had alternatives to abortion, like raising the child or giving her up for adoption. Reading that felt like a slap in the face.

It was a strange, surreal experience, sitting in the waiting room with women from all walks of life who were there to do the same thing for all kinds of different reasons. I wasn’t angry at the women who were there by choice. In a different way, I was too. It is a choice, and it should always be a choice. Again, I was grateful that I could make the choice that was best for my family, as horrible and heartbreaking as it was. The alternative was worse.

Now I write this, two weeks later

That was two weeks ago as I write this, almost to the minute.

The physical recovery was nothing; I don’t know yet where the other kind of recovery is going to take me. The pain is receding somewhat, becoming less intense and immediate. I’m trying to look to the future, “keep my eye on the prize,” as my mom said. Holding my breath until we can try again, hoping we get lucky.

But every discussion of what’s next cuts a little bit. We’re planning a summer vacation, because now we’re not having a baby. Going wedding dress shopping with my sister for her wedding next spring, when our little girl should have been 9 months old. Talking about bridesmaid dresses, but not thinking too hard about them, because maybe I’ll be pregnant. Maybe I’ll have just had a baby. Or maybe not. Maybe, maybe, maybe.

We decided not to name the baby, though I still think sometimes I might, in my heart. Without discussing it with my husband, because I knew he’d agree, I signed the consent to let her remains be used for research, if possible. Sometimes I regret this, because at times I wish so deeply that I had something of her, something other than the few ultrasound pictures we got that show all the things wrong (large cystic hygroma, generalized skin edema, bilateral pleural effusion, the report later stated). It’s hard to deal with this unique sort of grief, where there isn’t the automatic ritual of a funeral or a memorial where you have to stop and look your grief in the face and be with it. It’s hard to know where to find peace.

So I give sorrow words

I’m not religious, but I do have my own sort of bible (blasphemy, I know), which is Shakespeare. Towards the end of MacBeth, MacDuff receives news that his home has been attacked, and his wife and children murdered. MacDuff is silent in the face of the news, but Malcolm urges him, “Give sorrow words. The grief that does not speak whispers the o’erfraught heart and bids it break.” Those words have been sticking in my head. I’ve felt a pull between wanting to share our story publicly, and wanting to bury it, like so many women do pregnancy loss, and pretend that everything is okay.

As usual, I think Shakespeare is right. This grief can’t be silent, even if I can’t always face talking about it out loud, at least not yet. Writing it all out has helped.

I hope it helps others to read this, as it helped me to read the journeys of others. We are not alone in this heartache, and knowing that others have survived it gives me hope.

 

 

CC0 Public Domain image courtesy ofPIRO4D from Pixabay