Mosaic Turner's Syndrome

    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. 

Learn More about Turner's Syndrome

Our New Home

     We flew home from Baltimore, MD on August 9th! After spending two weeks in my parent's basement and one week visiting our family and friends in Saint George, we were able to move into our new apartment! When we moved back to Utah from Maryland we didn't have an apartment picked out. We were waiting to hear back on Jase's job offers and wanted to ensure that we didn't move too far away from where he would be working. He still ended up with a thirty to forty-minute commute, but we fell in love with a spacious basement apartment and couldn't say no to the price. The day we went to visit Saint George (August 13th) we spent the morning going to an open house for an apartment listing that we saw on Facebook Marketplace. We knew we were going to like the apartment, so we showed up at the very beginning of the open house. After walking through we asked if we could sign the lease right then! They said yes and we were able to head to Saint George daydreaming about moving into our new home on September 1st! 

    Our apartment has a beautiful open floor plan for the kitchen, dining area, and living room. There is a huge island and I love all the cupboards and counter space. I don't know if I'll ever be able to downsize from my big kitchen! 

Down the hall are three bedrooms, two bathrooms, and the laundry room. We opted for a three-bedroom apartment so I could have an office/nursery space that was separate from Evan's room. I am so glad we did! 

    I have been enjoying scouring Facebook Marketplace for the best deals to turn our apartment into our home. Some of the bigger items that I've gotten from Marketplace since moving in include; a sectional couch, a six-person dining table with chairs (my project, as I want to reupholster the chairs before winter hits), a very large rug, a pack of floor mats for Evan to play on, toy storage for Evan's room, two 5x5 IKEA cube shelving units, and a new bassinet for Eli. I got rid of a lot of furniture that I didn't love when we moved! 

    I think my favorite part of our home is that Evan loves all the space! He crawls all over and enjoys spreading out his toys. He has a play area set up between the couch and one of the shelving units, and he also loves playing in his room. I really wanted to convert his room into a toddler-friendly space, so I'm beyond happy with how much he loves his room. I am also really enjoying having a master bedroom with a walk-in closet and attached bathroom! When we lived in Maryland our "bedroom" was essentially the front entry room, and we had to go all the way downstairs to use the bathroom! I feel like I'm living in luxury now!

2021 History

 2021 History

Jase and Ellen Jensen

 

We started 2021 out with a trip to Bryce Canyon for Ellen’s birthday. We met up with Sophie (Ellen’s Sister) and Ty while there and had a fun few days hiking in the area. Ellen started the second trimester of her pregnancy in February and we announced our pregnancy to people outside of the family on Valentine’s Day. In March we found out that we were expecting a baby boy! In May we added a new member to the family, our hamster Willa! Sadly Willa died shortly after Evan was born.

 

In the beginning of June, we watched some of Ellen’s neighbors from up north and then some of Ky’s cousins the following week. It was a busy two weeks of playing parents before Evan arrived! On the 29th of June Ellen went into labor eight weeks early and checked into the hospital. Evan stayed put for two more days, then was born at 8 am on July first via an emergency C-section. He weighed 4 lbs 3 oz, and was 17 inches long. After Evan was born he was whisked away to the NICU, where he stayed for 23 days before we got to bring him home. Evan did great in the NICU and got stronger and stronger every day. He got down to 3 lbs 7 oz, but quickly bounced back up to 4 lbs (one of the requirements to bring him home). He also had to get big enough to regulate his body temperature and eat orally in order to come home. When he came home he was still on oxygen, but we were so thankful to finally have him home with us! 

During the time when Evan was in the NICU we both quit our jobs; Ellen as an assistant in the Chrysalis office and Jase as a teller at Deseret First Credit Union. Once Evan got out of the NICU, Jase got a new job at Chrysalis in order to better prepare for applying to med schools during the fall of 2022. Ellen was able to stay home and take care of Evan. School started back up in August and it was the start of the last year of college for both of us. We graduate with our bachelor's degrees in May of 2022! Jase will receive a degree in biochemistry and Ellen will receive a degree in communications. 

Fall included Evan and Ellen getting Covid, which caused a very rough 10 days. We had Evan checked out at the local night clinic and the ER to stay on the safe side since he was still so young (less than a month old according to his adjusted age). Luckily he healed quickly and everything was ok! In October we took a trip to Lagoon and Evan got to stay the day with his Grandma and Grandpa Bake. For Halloween Evan was a baby bat and we were vampires. We went to a fun Halloween party where we got to wear our costumes. 

In November Jase was awarded student of the semester for chemistry and biochemistry. We got to attend a nice dinner and award ceremony at the college to celebrate. Over Thanksgiving break, we took the time to get away from Evan for a night and stay in a hotel. We spent Thanksgiving with Ellen’s family in South Jordan. We got to celebrate Evan’s first Christmas with both sides of the family and got to enjoy lots of family and friend time during the school break. To end the year we found out that Jase was accepted to participate in an internship at Johns Hopkins University over the summer, so we will be moving to Baltimore, Maryland after we graduate! 

Evan has already grown so much and we are so grateful to have him in our lives. Becoming parents has taught us so much and filled our lives with so much happiness! We are so excited to see what 2022 brings for our family!

Evan's Birth Story

To Celebrate the halfway mark of NICU Awareness Month (September) I wanted to share my sweet baby Evan's birth story! I wrote this to keep in his baby book 10 days after he had been born. I didn't want to forget anything! Everyone has such different birth experiences and I'm so grateful for my story and my healthy baby boy. 

07-10-2021

My Sweet Baby Evan,

I love you so much! I’m sitting in the NICU, holding you, as I write this. Your birth story!

Monday, June 28th, was your 32-week ultrasound. Because of your kidneys, we were getting your ultrasounds done at a high-risk pregnancy clinic in the hospital, Maternal Fetal Medicine. Your ultrasound went well. We left with the plan to ultrasound you at 4 weeks, 4 months, and then at 12 months; just to make sure your kidneys didn’t get any bigger. Your right kidney was measuring at 8mm, and your left at 6mm. They’re supposed to be under 7mm but aren’t considered high risk until 10mm. It’s called urinary tract dilation. I was a little salty at the ultrasound because you wouldn’t show us your cute face. You were head down, but your face was turned inward (away from my belly button). That night your dad and I went to a ward pool party. I went down a “water slide” a few times, but I’m almost certain that it was not a rough enough ride to have induced labor. 

I woke up at 4:30 on Tuesday (6/29) in a ton of pain. I didn’t know if I was in labor, experiencing Braxton Hicks, or if you just didn’t like the hot dog I’d eaten at the pool party. The pain would come and go, but I didn’t think it was contractions because they were so close together. I thought contractions were supposed to start out slow! I took a warm bath to try and ease some of the pain. It also helped to walk around (I had to carry a squirt bottle with me when I did this because Sweet Pea would attack my legs) and to do calf raises while holding on to the bathroom counter. It was not a particularly pleasant morning. By the time your dad woke up around 8 I was feeling a lot better. I was only having 2-4 contractions an hour and they were a lot less intense. However, when I used the bathroom I noticed that I did have some bloody discharge. I called your grandma Bake and she told me to just call Dr. Lunt’s office. I did, and while I waited for a call back (they didn’t answer right away) I sent your dad off to work. I told him that I was feeling well enough to drive myself to the hospital if I needed to go in and get checked. Before he left he gave me a blessing. Sure enough, Dr. Lunt’s office told me to go get checked out. I quickly ate some cereal, grabbed a book and my phone charger, then headed into the hospital. 

Walking into the hospital I remember thinking, “How exciting! This is where I’ll come when I have the baby!” I got into the triage room and everything was looking good. Your heartbeat was good and I wasn’t having any contractions. Then they checked my cervix. I could tell that the nurse wasn’t quite sure what to think, so she went and got the hospital doctor. When the doctor checked my cervix she told me that I was dilated to a four. She also used a speculum to look at my cervix and saw that I had hourglassing membranes; which basically means that my water could easily break.  They were surprised that I was dilated since I wasn’t having contractions, but my contractions picked back up after I got checked. 

The doctor let me know that I was getting admitted so I called your dad to let him know to come over. Luckily he works across the street from the hospital, so he was there quickly. Before your dad got there I got a shot of steroids in my butt to help your lungs develop more quickly. When your dad got there the NICU doctor came and talked to us a little bit about what to expect if you came. The NICU doctors are super cool. This Doctor was a super tough-looking guy with a big beard. He told us that at the age of 5 babies born at 32 weeks are no different from babies that reach a full 40 weeks. 32 weeks is the magic number because the last trimester is really just about packing on fat and getting more nutrients. I felt a lot of peace knowing that you were most likely coming early, but also that you were going to be just fine thanks to the amazing NICU team. 

After talking to Dr. Erick Ridout about the NICU your Grandpa Jensen came and he and your dad gave me a blessing before I finished getting admitted. The rest of that day and the next I laid in my hospital bed and took medicine to ease my contractions. They wanted to keep you inside of me for 48 hours so you could get the full effect of the steroid shots that they gave me (one when I got admitted, and one 24 hours later). Grandma Bake drove down after I got admitted and stayed until today (7/10). I am so grateful that I was able to have my mom with me through this. 

The first night your dad stayed at the hospital and slept with me. I was hooked up to machines and your heartbeat was a constant noise in the background. Your dad didn’t sleep well (he probably slept for half an hour all night), so the second night I sent him home and my mom stayed and slept with me. Your dad also went to work during the day, otherwise, he would’ve gone stir-crazy in that hospital room! Shantell, Brekkon, and Roze came to visit on day two of the hospital stay. They brought me a bean burrito from cafe sabor - which I was craving all the time the last few weeks of my pregnancy and since you were born haha. The doctors took me off of constant monitoring before I went to bed the second day (6/30), so it was a lot quieter and easier to sleep. The plan was to just monitor me periodically throughout the next day. 

On Thursday (7/1) I woke up, went to the bathroom, put some deodorant on, and ate a little bit of breakfast. I noticed that I was having some more "painful" contractions, but nothing like I had experienced on Tuesday. A little before 7 Dr. Lunt and the nurse came in to check on me. They got me hooked back up to the monitors and Dr. Lunt asked to check my cervix. I hadn’t had my cervix checked since I got admitted because they didn’t want to accidentally break my water due to the hourglassing membranes. When Dr. Lunt was checking me he said, “there’s nothing there.” The nurse and my mom and I all kind of looked at each other confused and he said, “you’re at a 10.” Wow! All the sudden it was go time! Grandma called your dad and told him to hurry over. He had just woken up for the day about 10 minutes earlier! Dr. Lunt got an ultrasound machine to check your positioning and we found out that you had moved and were no longer going to be coming out vaginally. Your cord had prolapsed (moved between you and your exit), and you were sideways in my belly. Dr. Lunt let us know that it was time to prep for a C Section. Your grandma called dad again and let him know to hurry because we were having a C Section. The room got busy as they prepped me to go and your dad arrived with perfect timing. He gave me a blessing and then put his outfit on so he could join me in the delivery room. 

The scariest part was when they wheeled my bed away to take me to the C Section room. Your dad had to stay behind while they finished getting me ready and I just wanted him there so bad. I had no idea what to expect and I was so scared to get my spinal anesthetic. I was shaking a lot because I was scared, but I had the most wonderful nurse that morning and everyone else was wonderful as well. The nurse had me sit up and curl my back for my shot. She had me hold on to her and held me while they gave me the anesthesia. Luckily the shot didn’t hurt much. They gave me a local anesthesia, then gave me the spinal anesthesia. After that, they laid me down, draped me, and started prepping. Soon enough your dad was able to join me and I heard, “Dad do you have your camera ready?” I hadn’t even realized that they had started! A couple seconds later you were born! 8:00 am. Your dad took pictures as you came out and I heard you cry! I didn’t know if you were going to cry or not since you were so early, but you had an APGAR of 8, then five minutes later you had an APGAR of 9. Because you were doing so well they even brought you over and showed you to me. Your dad went with you to the other room while Dr. Lunt sewed me all back together. Your Grandma and Grandpa Jensen and your Grandma Bake got to see you and dad for a second as you were wheeled to the NICU. 

After my surgery was done I had to rest until the anesthesia wore off. It was funny to not be able to move my toes. After you got set up in the NICU your dad came back to check on me and stayed until I could get into the wheelchair to come visit you. I got moved to the mom-baby unit and tried to rest/nap so I could feel good enough to come see you. Eventually, I gave up on napping and decided that I had rested enough. I went down to see you and it was so nerve-wracking to hold you! I was so happy to get to do some skin-on-skin time with you, but you had so many cords! You had an IV in your head, a nasal cannula to help open up your lungs (though you didn’t need any oxygen you good boy!), and a feeding tube in your mouth (after they got rid of your nose cannula the feeding tube got moved to your nose). You also had wires attached to monitors to keep track of things like your heartbeat, your oxygen levels, etc. When I was holding you your little body was so warm that I overheated! I started feeling sick, so I had the nurse put you back in your incubator then your dad took me back upstairs to rest. 

When I got back upstairs I realized I was definitely going to throw up. I looked around for a puke bag but they didn’t have any in my room! I tried to ask your dad to get me the trash can but threw up in my mouth mid-sentence, which resulted in me pointing and snapping at the trash can and your dad being very confused. He figured it out though and then I threw up all of the apple juice that I’d drunk before visiting you (I was on a liquid diet for a bit after my surgery, then moved to crackers, and on from there). We went back and visited you again that night and dad did some skin-on-skin with you while I sat next to you both. That was the first real moment of quiet that we’d had together and I just loved it. I fall more and more in love with you every time I watch your dad hold you. 

Love you!

Mom