Our sweet baby girl has Trisomy 18.
I know that this is just the beginning of our journey, but it feels like we've already been traveling this road for years. Time is funny like that.
How we got here...
- August 2013: We found out that I was pregnant again! After losing an early pregnancy this summer, we were excited and nervous at the same time.
- December 9th, 2013: Our anatomy scan at 19 weeks, 4 days. We found out that we will be having another little girl! However, the doctor saw bilateral choroid plexus cysts (pockets of fluid on the brain), and a possible heart defect. I also noticed that our little girl wasn't opening her hands up during the ultrasound. The doctor said that the cysts and possible heart defect weren't as concerning on their own, but together could be a sign of a trisomy or another constellation of defects. I asked him if he thought it could be Trisomy 18 or 21. He said possibly...but there was a 99% chance that nothing was wrong at all with our baby. Upon later review of our ultrasound, another doctor let us know that our baby's cerebellum was also measuring a week behind at this point.
- December 13th, 2013: We were seen by pediatric cardiology for a fetal echo. He determined that our baby has a moderate (2-3mm) Ventricular Septal Defect (VSD). He stated that this is the most common heart defect, and would likely only require monitoring. Occasionally, babies with a VSD require open heart surgery, but usually not until they are at least 6 months old. The cardiologist also said that we would need an additional fetal echo in 6 to 8 weeks to check the heart again when it is bigger and easier to see. Also, he said our baby will need an echo in the first day to two days after birth to check for other heart defects. I asked if this was associated with any particular genetic abnormalities, and he said that we would need to ask our OB, but that since this was the most common heart defect, it usually wasn't. I put in a phone call to our OB to ask how concerned we should be. I was set up for an appointment with a geneticist and Maternal Fetal Medicine (MFM), the high risk pregnancy group of practitioners.
- December 18th, 2013: We first met with the geneticist. She said that we were young and had no additional risk factors for a genetic disorder, but that choroid plexus cysts and a VSD could possibly point to a genetic condition. She said maybe Trisomy 18, DiGeorge syndrome, Trisomy 21, or some other genetic abnormality. I asked her what the chance was that our baby had Trisomy 18, and all she could say was "more than 1%." My mommy instincts have been telling me something was wrong with the baby this whole pregnancy, and the answers she was giving us were so vague that they were just more upsetting than anything. We discussed testing options, but decided to talk more with the MFM doctor before making a decision. We met with the MFM doctor who was overly upbeat and perky and seemed to think we were pretty low risk. I asked about getting another ultrasound to double check for the clenched fists I thought I saw, or rocker bottom feet (both commonly seen in Trisomy 18), and she said that our anatomy ultrasound should have been detailed enough to not need an additional ultrasound. I was about to break down at this point, knowing in my heart that something was wrong, but not having a clear answer. My husband and I decided to just go ahead and have an amniocentesis to check the baby's chromosomes. They told us it could be done later that day. We went to lunch, came back and had the procedure. We were able to see baby Elise again on an ultrasound and there she was, moving and kicking...and seemingly clenching her fists. Matt and I both looked at each other when we saw that. That's not a good sign. The amnio was slightly painful, but we made it through. Baby seemed to tolerate it just fine.
- December 19th, 2013: We were told that we could get our FISH results back in one to two days. The FISH results are the initial results from the amniocentesis that look only for chromosomes 13, 18, and 21. The final amniocentesis results will take 7 to 10 business days. I was checking the phone all day. Towards the end of the business day, when I knew the doctor's nurse line would be closing soon, I called to check in and see if our test results were back yet. I was told a nurse would call me back as soon as possible. Less than 30 minutes later, I received a phone call. I answered and it was the geneticist, not a nurse. I knew then that I would be receiving bad news. She told me that our baby had tested positive for Trisomy 18. It didn't shock me...I felt like I had known that somewhere in my heart this whole time...however, it did devastate me. It crushed me. Trisomy 18 is generally said to be "incompatible with life." My husband called from work and wanted to know the results....I told him. I called family members. I called work and told them that I couldn't come in to work for the weekend. I was grieving too much to take care of other people's children. I needed to stay home with my family.
- December 20th, 2013: We met with the geneticist again. She explained that there are 3 different kinds of Trisomy 18, but that they expected our baby to have either full Trisomy 18 (an extra 18th chromosome in every cell of the baby's body), or mosaic Trisomy 18 (an extra 18th chromosome in only some cells in the baby's body). 95% of all Trisomy 18 cases are full, but there is no way to know which one our baby has until our complete amniocentesis results are back. Full Trisomy 18 tends to be more severe than mosaic Trisomy 18. We also met with the MFM doctor. She discussed our choices with us (termination or continuation of the pregnancy), and we told her that we would, without a doubt, be continuing the pregnancy. I do not believe in termination of pregnancy for any reason. She explained to us that "Trisomy 18 is fatal." She told us that even if our baby does survive pregnancy (50% of babies with Trisomy 18 die before birth), she would likely die during labor or soon after birth. If our baby survived the immediate period after birth, she told us that she will probably die before the age of 1 year old (5-10% of babies with Trisomy 18 make it to their first birthdays, but they are often those with mosaic Trisomy 18 or those who have had significant surgical and other interventions).
- December 22nd, 2013: After having notified all of our immediate family of the news, we posted an announcement on Facebook. I wanted this to be out in the open. I felt that it would just be easier for all of us, especially since I work as a nurse with babies. We received an overwhelming show of support from our family, friends, and coworkers.
This is a difficult time for my family and me. I'm torn between complete despair and grief over the thought of burying my own child, optimism that we will make the best of this pregnancy and her life and be filled with joy, and a small bit of hope that maybe...just maybe...our girl will be one of the lucky few who survive.
I understand that only God knows which path this journey will take, but that hasn't stopped my heart and my mind from this awful ride of ups and downs....hope and despair. I hope that with continued prayer, God will lead my heart and mind to both trust fully in Him and let go of all of the rest.
"Likewise the Spirit helps us in our weakness; for we do not know how to pray as we ought, but that very Spirit intercedes with sighs too deep for words." -Romans 8.26
