When I woke up on April 12, I was so excited.
Five weeks pregnant and still pregnant. My previous pregnancy had ended at five weeks (or somewhere around then—by the time blood work was done my hCG levels were so low they don’t know exactly when I miscarried) so it felt like a big milestone.
But, by that evening, everything had changed.
My doctor had called to tell me that my genetic testing came back and, of the 289 different genes I was tested for, I was a carrier for three recessive genes. But I was reassured it would be okay. We’d test my husband and hope that if he was a carrier of anything, it was anything but one of these same three genes.
Two weeks later, on April 26, my doctor called me just past 2:30 p.m. and told me my husband’s results were back and he was a carrier of one recessive gene—one of the ones I also carried: Tay-Sachs disease.
I’m already pregnant—now what?
Let’s backtrack a bit. Some time in late 2012, I learned that a family member was a carrier of Tay-Sachs disease. I knew of Tay-Sachs only from a 2004 episode of Law & Order: Special Victims Unit but that little bit of information was enough for me to know that it was serious.
My anxiety kicked in.
Tay-Sachs disease affects the nervous system and, in an affected person, becomes progressively worse over time. The average lifespan for a child born with Tay-Sachs is five years.
In 2012 I was single, hadn’t met my husband yet, and wasn’t thinking too much about my future children—aside from the fact that I knew I wanted them—but I knew that there was a possibility that if my family member carried this gene, I could carry it too.
At my annual physical at my GP’s office, I brought up genetic testing.
“There’s a chance I’m a carrier of Tay-Sachs and I want to be tested now,” I told her.
She told me they wouldn’t test me unless I was trying to get pregnant or was already pregnant, which seemed odd. I continued to ask for genetic testing at my physical every year after that and the answer was always the same. “We can’t test unless you’re trying to get pregnant or are already pregnant.”
So when I found myself pregnant the first time, I asked to be seen earlier than the standard eight weeks so that I could be tested for this genetic disorder. We scheduled an appointment for when I’d be six weeks, but I had already miscarried that pregnancy. Still, I pushed to have the doctor order the genetic testing, which he did.
Back to April 26.
A quick Google search and Punnett Square later told me we had a 25 percent chance of an affected child, a 25 percent chance of an unaffected child and a 50 percent chance of a carrier child.
“Okay,” I thought, “that’s a 75 percent chance of a healthy baby.”
And then “Oh, a 25 percent chance of an affected child. A termination. Oh.”
I quit my job that night. I was, at the time, a nanny and I couldn’t be around children knowing what I knew, or rather, what I didn’t know.
We told our families that we both carry Tay-Sachs disease. We didn’t tell them I was pregnant because we were too scared to share the news. They’d be so happy about the pregnancy, but wouldn’t understand the very real fear we felt about this very wished-for baby that may not live.
I learned I’ll need Chorionic Villus Sampling (CVS) or Amniocentesis, procedures used to diagnose certain genetic and chromosomal abnormalities in the fetus. A CVS can’t be done until 12 weeks—an amnio not until 15 weeks. How was I going to make it through the next five weeks until my CVS?
I spend hours upon hours looking for support groups, support comments or anything from someone going through this same journey. It seemed like no one was experiencing this horrible reality or, if they were, no one was talking about it.
Message boards became my go-to search engine. “Genetic Carrier,” “Tay-Sachs,” “Recessive Gene,” I searched it all and finally found a very old comment in a very old thread mentioning a Facebook group for genetic carriers.
I joined and spent too much time reading all of the posts, using other people’s stories to prepare myself for the physical pain of the CVS and the emotional tolls of enduring the wait for results as well as the possibility that this pregnancy would also end too soon.
The CVS Procedure
On June 3, at 12 weeks and three days, I had a transabdominal CVS (it can also be done transvaginal, it’s dependent on the location of your placenta). It’s a pain I still remember 16 months later. I sobbed (maybe I screamed?) for what felt like an eternity although I’m sure it was only for a few minutes.
I felt blood run from my pubic bone over to my left hip and down my leg. I tried so hard to stay still so the doctor could get a large sample. Apparently, I moved. I cried even harder, mad at myself that I wasn’t braver, that the doctor did not get a good enough sample.
I was told results would take two to four weeks depending on the size of the sample. How am I supposed to wait another four weeks? Everyone I had chatted with said their results took about three weeks. The mental math began. Best-case scenario we would have results when I was 14 weeks and three days. Worst case, 16 weeks and three days. Even the “best-case” sounded awful. The thought of having to terminate my pregnancy—to never meet this baby who I have dreamed of for so long, broke my heart.
The next week, the genetic counselor called to tell us the sample was okay—not enough to test, but enough for the lab to culture and then send for testing. “It will probably be closer to four weeks,” the counselor said. “I’ll be in touch.”
Three weeks after my CVS, while I was still awaiting results, Roe v. Wade was overturned.
Friends and family at this point know I’m a carrier, but not that I was pregnant. Luckily, living in California, I still had access to care if I ever needed it. But I was scared. My long list of fears just just kept getting longer.
At 16 weeks and three days, four weeks after the CVS, we still hadn’t received the results and were approaching a family trip, out of state, with nearly 20 people. My husband and I discussed whether we should travel at all. My anxiety was in a whirlwind: What if we get the results and they’re bad and we need to terminate? How do we get back home quickly?
We decided to take the trip, as planned, hiding the pregnancy from all but the four people we were sharing a home with. My morning sickness was getting progressively worse and I didn’t want anyone to be alarmed by my non-stop vomiting.
Finally: the long-awaited call
During the trip, we received the call from our genetic counselor, four weeks and five days after the CVS. I was 17 weeks and one day pregnant.
We missed the call. She left a voicemail to call her back. We called back and got her voicemail. Seven minutes later we finally connected with her. That was a long, long seven minutes.
She told us the news we had been hoping for—our sweet baby is a carrier. Just a carrier. My husband and I burst into tears of relief, barely processing the rest of the conversation.
On that call our genetic counselor told us that there’s a microdeletion of another recessive gene, a gene that was not one of the 289 we were previously tested for: deafness.
Because we weren’t tested, she doesn’t know if our baby is a carrier or affected. We decided on that phone call that we would not terminate no matter the results of the deafness gene. The doctor ordered another round of genetic testing. (Nearly a month later we found out that only my husband carries the gene, I don’t. Our baby is a carrier only and not affected.)
We hung up the phone still crying, hugging, kissing. We walked out of the bedroom to our four housemates and told them the good news through a stream of tears. We all hugged.
Finally a sigh of relief.
Could the genetic testing results be wrong?
I spent the rest of my pregnancy relieved—albeit incredibly sick—yet worried that somehow the results were wrong. I questioned our pediatrician if we should test our child at birth. I was reassured that the CVS results are 98 percent accurate and only if our child begins missing milestones consistent with Tay-Sachs will we test him.
Now my son is nearly 11 months old and meeting his milestones. I still fear that maybe the doctors missed something and that we’ll get some horrible news later on.
The odds with Tay-Sachs, and any recessive gene, are the same for every pregnancy. Just because we beat the odds once doesn’t mean we will beat them again. Any future pregnancy could result in an affected child/carrier child/unaffected child. It’s like Russian Roulette, but it’s not a game; it’s our life.
My husband and I would love to have more children, but we’re not sure if we will try to conceive naturally again. I don’t know if I can handle the brief, but excruciating physical pain. I don’t know if I can handle the months of not knowing if we’ll get to meet our baby. Maybe we’ll consider IVF. We don’t know. It is a lot to consider. It’s emotionally painful.
I sometimes feel pressure to make a decision. So many people—both those who do know and those who do not know about our carrier status—ask if we’re thinking about another child. Since I don’t always have the courage to say this, I’ll say it now: please do not ask anyone about their plans for a child. You really don’t know how much that can hurt.
We’ll figure it out, but in the meantime, I just breathe deeply knowing that, at this moment, my son is healthy.
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