I recently received a diagnosis of Mosaic Turner's Syndrome after completing a blood karyotype a few weeks ago. For those of you who don't know what some of those medical words mean, I'll get there - but needless to say my medical history and medical future have been weighing heavily on my mind.
After finding out I was pregnant with my second baby I chose to have basic genetic testing done. I really just wanted to know the baby's gender and wasn't sure if I would be able to make ultrasounds for a few months, as I was moving to Baltimore, MD for the summer. This test is completed by drawing some of the mother's blood, then comparing fetal DNA (present in the mother's bloodstream) to the mother's DNA. A few weeks into my stay in Baltimore I received the test results, which indicated that there were markers for Turner's Syndrome in my DNA. Side note: I also learned that I'm having another baby boy! Because I am otherwise healthy, the results were not alarming and we planned to complete further genetic testing upon our return to Utah.
Once summer ended I quickly scheduled a time to meet with a genetic counselor, who ordered a blood karyotype for me and an in-depth ultrasound for the baby. From what I've learned, a blood karyotype is performed by taking a blood sample and essentially splitting some cells open in order to examine the cell's chromosomes under a microscope. My test revealed that of the 20 cells they examined, about 30% of the cells were missing one X chromosome. The X chromosome is a sex chromosome; meaning that men typically have an X and Y chromosome, while women typically have two X chromosomes. Girls with Turner's Syndrome only have one X chromosome. As 70% of my cells did have the normal two X chromosomes, I was diagnosed with Mosaic Turner's Syndrome (you can think of it as partial Turner's Syndrome).
I quickly learned that having Mosaic Turner's Syndrome essentially meant that doctors don't really know what to expect when it comes to my health or medical outlook; as I could range from perfectly healthy to having symptoms similar to an individual with full Turner's Syndrome (also called Monosomy X). Moving forward I have an echocardiogram scheduled (an ultrasound on my heart) as well as blood being taken to test my thyroid (hormone) levels. Because I have been healthy my whole life so far, we're hopeful that both of these tests will come back showing no issues. If that turns out to not be the case, I suppose I'll meet with more doctors and plan from there.
As soon as I received this diagnosis I wanted to know what this meant for my pregnancy. Before doing a little bit of research, all I knew about Turner's Syndrome was that it usually made individuals infertile. Many individuals with Turner's Syndrome may not experience puberty or have menstrual periods. My entire pregnancy has been plagued with anxiety surrounding preterm delivery, as my first baby came eight weeks early and spent 23 days in the NICU following his birth. I remember that after the initial excitement of the pregnancy wore off, I spent the night feeling sick with worry that my body may not be able to carry to term again. I think one of the biggest difficulties I've faced this pregnancy is learning to trust my body again, and knowing that it's doing its best to keep my baby safe. I've found a lot of comfort in Instagram posts from Dear NICU Mama as I've tried to accept that it wasn't my fault that my baby came early and had to spend time in the NICU.
Some of my first questions for the genetic counselor included how my diagnosis would affect my current pregnancy as well as how my diagnosis would affect future pregnancies. As for my current pregnancy, I met with a high-risk OBGYN to assess the risk to my health and my baby's health. He was confident in our health remaining ok moving forward in the pregnancy (pending results from the echocardiogram and thyroid testing), as my medical history doesn't warrant any indication of my new diagnosis. During my in-depth ultrasound, the technition double-checked the baby's heart walls, as this is a common issue in individuals with Turner's Syndrome. Everything regarding this pregnancy was good news. After learning that my blood test showed markers for Turner's Syndrome, I learned that individuals with Mosaic Turner's Syndrome can have difficulty carrying to term. However, the high-risk OBGYN also said that there isn't any indication that my previous preterm labor was caused by my having Mosaic Turner's Syndrome, so it is possible that I will carry to term this time. Previous to learning of my diagnosis I was monitored for incompetent cervix and prescribed weekly progesterone shots. My many ultrasounds showed a normal cervical length and my sweet husband is still giving me my weekly butt shots.
As for my future pregnancies, there are a lot of unknowns. Luckily, Turner's Syndrome is rarely an inherited condition, so it is highly unlikely that I could pass this defect to future pregnancies. However, with having a genetic abnormality there is just a higher risk that my babies could have Turner's Syndrome or another genetic abnormality, like Down Syndrome. There is also a higher chance that I will struggle with infertility. Because my periods have always been regular in the past, we hope that I don't have any hormonal issues that could contribute to infertility; but we just won't know until it does or does not happen. Hearing this has made us especially grateful for our two boys and for our decision to start our family quickly after getting married. I think that this was the hardest news for me to hear, as I hate the idea that my body might limit the number of children that I can bring into my family. I felt the same way following my emergency C-section with my first baby. All of the sudden my ability to plan my family with my husband and with God seemed to be tainted in a way. I now have to consider doctors' opinions, as having multiple C-sections increases the risk of an embryo implanting on scar tissue instead of a healthy area of the uterus. Now, I have to consider that the older I get, the more likely it is that I will struggle with infertility. I could even go through menopause early.
Luckily, my head and heart are still rooted in gratitude. Despite my unexpected diagnosis, I am relatively healthy. I've already been blessed with two (come December) perfect baby boys. My husband has been nothing but supportive of me and my emotions as I've learned of my diagnosis. I hope to continue growing my family when the time is right, even if that growth isn't through typical means. I have so much to praise my Heavenly Father for, and I will.
