My Story: The Hardest Decision Ever

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The Turner Syndrome Foundation’s (TSF) My Story blog series highlights the experiences of individuals, families, and caregivers impacted by Turner syndrome (TS). Their stories have an incredible ability to inspire others and make a positive impact on the TS community. This month, we share a story submitted to TSF that highlights the difficulties presented by a prenatal TS diagnosis and having to make an impossible decision. We will also share important information on the prognosis of TS and coping with the loss of a pregnancy due to the condition. 

Warning note:  This story involves an adult topic and is not suitable for young children. Some may find the content disturbing. This article deals with a sensitive topic of ones TS pregnancy and how difficult  decisions were made whether to carry to full-term, and how differently the outcome can be in each person and or family.  Please consult with your personal healthcare provider(s) to make an informed decision. TSF supports all expectant families with a TS diagnosis and encourages them to share their unique journeys. If you are experiencing grief from a past loss, please seek support to help you in the healing process.

Finding Out I Was Pregnant

My menstrual cycle is like clockwork, so on June 10, 2021, when my period was only one day late, I took a pregnancy test. To my surprise, it was positive. I took four more tests, all confirming that I was pregnant. I panicked; we panicked. It wasn’t a happy positive, by any means. I freaked out and didn’t know what to do. We weren’t ready, and we didn’t know if we wanted this baby. Having a third child was part of the plan, just not yet.

A few days later, I went into my OB’s office and had a blood test, which confirmed pregnancy. From there, I scheduled an appointment to hear the heartbeat. On July 1st, at seven weeks along, we heard the heartbeat and saw our little baby on the ultrasound.

On August 5th, I went into my 12-week appointment–the genetic testing and ultrasound appointment. I didn’t think anything of it, as

I had been through it twice before. The baby looked great on the ultrasound. I gave blood and went home.

Genetic Testing Results

Penn Medicine

On August 12th, I got a call from my OB. He said, “you are negative for Trisomy 13, 18, etc. but are high risk for monosomy X.” “What is monosomy X?,” I thought to myself. Well, usually if it’s a boy, the chromosome combination is XY; if it’s a girl, XX. This test told me my baby may be missing a chromosome, but there was only one way to find out. My OB sent me to a high-risk doctor, and that very next day, I was admitted for a chorionic villus sampling (CVS) procedure. This was a very invasive test, which through my body with a little needle, tested the placenta, extracting blood and tissue from the baby. The results would come within a week.

The Hardest Decision

For a whole week, I Googled and Googled what my baby could have. Monosomy X is TS, a rare chromosomal abnormality that only affects female births. It comes with a whole slew of issues, which I won’t bore you with, but I spent a whole week researching my baby’s potential outcome. 

Bringing a child that would live a life of doctors, surgeries, visibly different features, and a different life from her two sisters–a potentially very difficult life–was not what we envisioned for this baby. And for this reason, we made a very hard decision. We decided that, for this baby and for our family, it was best to terminate my pregnancy.

Telling My Story

What To Expect

I wasn’t planning to share my story because I didn’t want to be judged, but I decided to let other people in.

Please pray for my baby girl, who is in heaven. As for me, I am lucky to have two girls with me, and one forever in my heart.

Facts About TS & Pregnancy Loss

TS is a rare genetic disorder that affects about 1 in 2,000 live female births. The cause of TS is a random error in cell division; however, the exact cause is unknown. While 98 to 99% of TS pregnancies result in miscarriage, those who do survive can live long and healthy lives. Research suggests that, after the first trimester, the risk of miscarriage decreases substantially. 

A diagnosis of TS during pregnancy is usually indicated through abnormalities observed through ultrasound, but a diagnosis is confirmed through chromosomal testing, including amniocentesis and CVS. Since the effects of TS vary greatly, some women with the condition do not even receive a diagnosis until adulthood. 

National Today

Prognosis

MedicineNet

Doctors do not have a definitive conclusion as to why some TS pregnancies result in miscarriage, while others are healthy. However, the prevailing theory is that there are additional genetic

mutations that are incompatible with life. Much more information needs to be collected to allow researchers to study these mutations. All people affected by TS are encouraged to contribute to the TSRX Registry to help further research and improve care.

While some health conditions and physical characteristics are associated with TS, most individuals with the condition have normal intelligence and live fully functional lives. According to Dr. Krissi Danielsson in Turner Syndrome (Monosomy X) and Pregnancy Loss, “It can be unnerving to learn that your baby has a chromosome disorder, though, so it’s a good idea to get in touch with support groups or a genetic counselor to prepare.” 

TSF has multiple resources to help you. See information on prenatal tests and Guidelines for living with Turner Syndrome on the TSF website.

Resources To Help Cope with Loss

Coping with the loss of a child is an incredible challenge and will feel very overwhelming at times. It is important to remember that you are not alone. There are many resources out there to help you throughout the grieving process. It is also vital that parents dealing with the loss of a child due to TS know that it is not their fault. TS is a random genetic error, and there is nothing you as a parent could have done to prevent it.  TSF is here to support you through your journey. 

TSF has made it a priority to provide resources for anyone affected by the loss of a child due to TS. After experiencing a loss, it can be comforting to speak with individuals who have had similar experiences. The Star Sisters support group offers an opportunity for people to share their experiences and lean on one another for support and community. 

Some choose to channel their grief by getting involved in

advocacy and raising awareness. TSF has many opportunities to join walks, host events, become involved in research, or volunteer. In addition to these resources, you can share your story through a My Story submission, as the one above, or create a memorial tribute page for your loved one. 

Thank You

TSF would like to thank the submitter of this My Story post for her bravery in sharing her experience. We hope this post brings comfort to those who have similar stories and helps them know they are not alone.

Written by a My Story contributor and Taylor Moore, volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator. Designed by Jasmine Persaud, TSF volunteer blog designer.

© Turner Syndrome Foundation, 2022

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