Alyssa's Journey: When Your Genes Betray You
You don’t think much about genetics until you start thinking about passing yours along.
You hope your future child will have your husband’s good eyesight, and your love of reading. So, it’s tough when you feel like your genes, the things that literally make you who you are, betray you.
My husband and I got married in 2013, about a month before I turned 27 years old. I always thought I’d have a baby when I was 28, but I couldn’t have been further from ready to be a mom only one year later. Then I thought 30 would be a good age, but I was wrong again. At 31, the time finally seemed right.
When I told my OBGYN about my plans to stop taking the pill in September 2017, she asked if I wanted to have genetic testing done first, and I said yes. My cheek swab came back positive for something none of us had heard of before, including the doctor – Joubert Syndrome.
Since I was a carrier for something, it was my husband’s turn to get tested. The doctor assured me that the odds of the two of us being carriers for the same rare disease was unlikely, but if we had bet on these odds, we would have lost. We couldn’t believe it. Out of all the people in the world, we had each fallen in love with someone who was a carrier for the same rare disease.
The next step on our journey to have a baby was not to go off the pill, but to see a genetic counselor.
The odds of us having a healthy baby were 75%, so we felt confident in our decision to get pregnant naturally, then have a procedure called a CVS at 12 weeks, which is when a bit of placenta is sent for genetic testing.
Finally, about four months after my original talk with my doctor, I stopped taking birth control. Then we hit another snag – my period never showed up. Being a carrier for Joubert Syndrome was new to me, but I was diagnosed with Congenital Adrenal Hyperplasia when I was 18. CAH is like PCOS in that it messes with your hormones and often affects fertility (to put it simply and unscientifically). When I originally talked to my endocrinologist about getting pregnant, he told me that the CAH should have no effect on my fertility. I should remind him that he said that.
I started taking a steroid called dexamethasone to see if I could get my body to ovulate, and it SUCKED. The side effects were no joke – bloating, puffiness, weight gain, breakouts – I felt like there was a different person looking back at me whenever I stood in front of a mirror. But other side effects that I attributed to the steroid were a symptom of something else – pregnancy.
If I hadn’t had a little bit of bleeding that I thought might be something period-adjacent that had me make an appointment at the fertility clinic for an ultrasound, I might have ended up a candidate for that TV show “I Didn’t Know I Was Pregnant.” The doctor who did my ultrasound the next morning excitedly told me I was pregnant, and I responded, “What?” while attempting to figure out what I was looking at on the ultrasound screen.
I remember it was a Wednesday because my parents were visiting, and I had taken that day (and the next two days) off from work. I left the house at 7:00 for a 7:30 appointment, after which I drove to my husband’s office to tell him about the shocking news in person. Then I went back home and had brunch with my parents.
Purely by coincidence, there were already plans for my parents, my in-laws, my grandmother-in-law, and my sister to have dinner at our house that night, so we told everyone together that we were having a baby. Well, almost everyone – I Face Timed my other sister later that night.
We were happy, and excited, and everything else you should feel when you’re pregnant with a wanted baby. But there was an undercurrent of worry. What if the worst thing happened? “75 percent” was the mantra I regularly repeated to myself and my husband.
About two weeks after having the CVS in August 2018, I was working from home while waiting for Hurricane Florence to hit. I got out of the shower to see a missed call and a voicemail from Emily, our genetic counselor.
The message said to call her back when I was somewhere private. I knew what she was going to say, but I had to call her anyway. She told me she was sorry and asked if I was still planning on ending the pregnancy, and if I wanted her to send the referral to the hospital. I said that I had to talk to my husband, and I’d call her back.
He was at lunch when I called him. I managed to say, “I talked to Emily,” before I started to cry.
I had done a few things before I knew I was pregnant that could have affected my baby, like drinking wine and falling off my bike. But none of those things made my baby sick. The gene for Joubert is something I was born with, and the whole thing was so unfair.
A few days later, I had a D&E at the hospital. That also did not go as planned, as the drug misoprostol didn’t soften my cervix enough to be dilated, and neither did the inserted laminaria that were supposed to do the job as I sat waiting for hours with no pants and no food. I had to go back the next day and have the procedure done in an operating room under anesthesia.
We took a necessary break after that, waiting until summer 2019 to go back to the reproductive endocrinologist and tell her that we wanted to do IVF so we could have the embryos tested before implantation to make sure they’re healthy.
After our genetic probes were created for testing, we were able to begin the rollercoaster of injections, ultrasounds, and waiting. I don’t think I’ll ever forget standing in front of my husband with my stomach exposed and a syringe in his hand for our first IVF shot, looking at each other nervously.
It ended up taking two full weeks, but there were 10-15 good follicles when I went in for egg retrieval. However, the doctor was only able to get four eggs.
From those four eggs, three fertilized, so we were thrilled! We never thought that we wouldn’t end up with any embryos after six days, but that’s what happened. The doctor had ideas on how to change the protocol for round 2, so I added some extra drugs and supplements to my diet, and we jumped right back in.
I was sure that it would work this time, and I once again had more than a dozen follicles ahead of my retrieval. But our egg number was five – only one more than the first time. The next morning, I got the call that only one had fertilized. A few hours later, I went to a baby shower.
I held out hope for that one embryo to make it, but we were once again left with nothing to send for testing. I didn’t even cry when the embryologist called with the news on day six. I just couldn’t believe that it hadn’t worked again. The doctor didn’t recommend a third round of IVF unless we used donor eggs, and I wasn’t ready for that.
Instead, we went backwards. We decided to induce ovulation and do timed intercourse to try to get pregnant on our own. The fear of having another fetus affected with Joubert Syndrome was still real, but we didn’t think the universe would continue to be so mean to us.
Inducing ovulation was necessary because in all this time, I still hadn’t gotten my period, not even once.
In September 2020, the mystery of the missing menses was finally solved when I decided to switch fertility clinics. My new doctor ordered a hysteroscopy, which showed that I had scar tissue blocking my cervical canal. When the scar tissue was broken through, the blood that had been sitting in my uterus was finally able to come out.
With someone new taking care of me, I feel new optimism about where this is going to lead. I’m hoping that we can come up with a brand-new protocol for IVF that will get us some blastocysts for testing. Maybe 2020 will bring something good after all.
Medical Disclaimer:
The information provided in this blog is intended for general informational purposes only and should not be considered as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your healthcare provider or qualified medical professional with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in this blog.