Discovering Trisomy 13

Today is probably the only Mother’s Day we’ll share with our baby.

Last Sunday, we received our prenatal genetic test results, which revealed we’re having a girl! It also gave us a 22.9% chance that our little girl has Trisomy 13 (Patau’s Syndrome), a very rare genetic disorder similar to Down Syndrome but more severe. We tried to be optimistic, while remaining realistic, because we had a 3 in 4 chance that baby was fine. The odds were in our favor.

Early Wednesday morning, we headed to Maternal Fetal Medicine for a 30-minute ultrasound. We got to see little baby’s feet, arms, face and brain! Her little heart was beating and she gave us a “thumbs up” as she moved around. I tried not to think of all that could be wrong and enjoy the time I got to see my daughter.

When the ultrasound was done, the tech spent quite a bit of time reviewing the images before leaving the room to discuss the results with the doctor. The waiting should have been nerve wracking, but we were distracted because we were on and off the phone with Tricare and Walter Reed dealing with referral issues. Tricare does not cover genetic counseling for active duty service members, so we were trying to figure out how to avoid shelling out hundreds of dollars to receive the care we needed.

When it was time for the doctor to give us the results, I said a little prayer and felt surprisingly calm as she welcomed us into her office. Josh teared up as she pointed out all the abnormalities on the ultrasound. Baby girl had fluid in her brain, an asymmetric heart, abnormal kidneys and an abnormal belly. That thumbs up she gave us was a clenched fist, another a sign of Trisomy.

While Josh openly showed his emotions, I felt numb. I’m a numbers person and didn’t understand what this meant without knowing the probability that something was seriously wrong. I asked what the chances were that this was actually Trisomy 13. The doc said the only way to diagnosis Trisomy 13 is through invasive testing called amniocentesis, but the baby most likely has it because the ultrasound abnormalities plus the positive genetic test are indicative of the disease. As she said those words to me, I felt more grief than I ever thought possible. The feeling is indescribable. Every fiber of my body felt sorrow and pain.

Trisomy 13 is fatal. Baby girl has a 50% chance of being born. If we are lucky enough to welcome her into the world, chances are she won’t survive past a week. She will never grow up to be a pageant queen or triathlete because she will never have the chance to grow up.

Only 1 in 10,000 babies are born with Trisomy 13, with most fetuses lost during the first trimester. I was told one of my options is to terminate the pregnancy. However, we are several weeks into the second trimester, which proves my baby girl is a fighter. My princess is a warrior and a survivor. As long a she’s willing to fight for life, we’ll be right there with her doing everything we can to give her a shot. She’s surviving against the odds and forcing me to have more faith than I’ve ever had before. And that’s why we decided to name her Faith Xena.

To my little Faith, I loved you since I knew you existed. Regardless of the circumstances, I’m overjoyed that you came into my life, and I promise to never give up on you. Today, I want us to be happy because you are still here, and you’ve blessed me with being a mom. So today, we will wipe away the tears and enjoy Mother’s Day.