Turner Syndrome Foundation
The Turner Syndrome Foundation’s (TSF) My Story blog series highlights the experiences of individuals, families, and caregivers affected 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 the story of a woman who learned of her TS diagnosis following multiple instances of pregnancy loss.
Notes: This post contains sensitive information about pregnancy loss that may not be appropriate for younger audiences. Please use discretion. Everyone’s journey with TS is different. Please consult with your health care provider(s) for guidance regarding your health issues and appropriate treatments.
My Story
My Life Prior to Diagnosis
I have always been short, but since both my grandmothers were under 5 feet tall and had 11 children between the two of them, I didn’t think a whole lot about it. My brothers and schoolmates teased me mercilessly. I made up my mind to not be “that short girl,” but to be as tough and strong as anyone else.
When I had my oldest daughter, she looked like me and grew like me, so I had no cause for concern. Our family practice doctor wanted to prescribe growth hormone therapy for her, but I was uncertain. At that time, recombinant DNA growth hormone had only just been approved by the FDA, and there were no long-term studies on its efficacy, side effects, or interactions. I knew she would essentially be a test subject.
Pattern of Miscarriages
My Diagnosis
I learned that I had TS when I was 37 years old and trying to have my fourth baby. I had two miscarriages in a row, so by that time, I was up to five miscarriages and three children.
My pattern of miscarriages was finally investigated with blood work, and my karyotype came back abnormal. I had a “duplication and deletion” on one of my X chromosomes. To say that I was shocked would be an understatement. Other than being short and having a lot of miscarriages, I was completely healthy. I had reached puberty at the usual time and had gotten pregnant very easily. It was staying pregnant that proved difficult.
Then I had a daughter and son with normal karyotypes, but with miscarriages between pregnancies. I had a healthy baby, miscarriage, healthy baby, miscarriage, healthy baby, and miscarriage. My miscarriage pattern was also all-or-nothing; it was either an early loss or a normal pregnancy. I decided to seek fertility care, but the male doctor I first asked told me that it was “just bad luck” and “not to worry.”
After my son was born, I wanted a brother for him, but that was more difficult than I anticipated. I was over 35 and entering the “gray zone” of perimenopause, even though I didn’t feel any different. It felt like I had slipped past the International Date Line during the night without knowing.
Impact of TS
My pregnancy losses took a toll on me and my family. My older daughters remember how it was, and how I withdrew. According to my ex-husband, every time I told him I was
Future Endeavors
I am a fabric artist; I love to quilt and design clothing (kind of a necessity when you aren’t very tall). My children made my basement into a studio for me, so I look forward to spending time designing and creating beautiful things.
As my work slows down as the pandemic wanes, I also want to be able to spend time volunteering on projects I am passionate about, like health care access, voting rights, and child welfare.
pregnant, he mentally “cringed,” because I was “inconsolable” after each miscarriage. My friends didn’t understand and asked me why I couldn’t “just be happy when you find out you’re pregnant.”
After much prayer and pain, I finally had my fourth child–a girl. I was 12 to 13 weeks pregnant with her when the doctor’s office called me with the genetic test results. They told me they had “good news and bad news.” The good news was that she was a little girl; the bad news was that she also had TS, the same chromosomal “rearrangement” I have.
I felt a stab of pain when I heard that, as if my genetics determined my worth. I was so much more than that, and my daughter would be so much more than that. She would know that she was loved and valued for who she was, not her cell line. I later had my first daughter tested, and as I suspected, she was the same.
TS-related Medical Concerns
Moving Forward with TS
Now I have three daughters and one son and feel so unbelievably blessed; they are an incredible gift. I don’t honestly think I overcame anything at all; I just endured the pain, and the joy of my children was more than worth the sorrow.
I have developed cast-iron endurance. If I had known about my TS diagnosis earlier, I don’t know what I would have done. I don’t know how differently I might have perceived my pregnancies or if I would have been willing to take on the odds to even try to have a family.
We gave our youngest daughter a name that honors God’s promise of grace because in the end, I had her not because I earned her, or should be able to have her. No, it was because in the end, it’s all a gift of Grace.
Now that my oldest daughter wants to start a family, we are finding that she probably should have been evaluated for fertility preservation earlier. I had gone a large portion of my life without knowing I had TS. When I did begin to suspect that something was not quite right, my concern was minimized due to the prevailing medical views on women and their health concerns.
When I was told I had TS, no one ever said that my daughters should be evaluated for cardiac or renal issues or endocrine system function. I know now that the standard of care for individuals with TS is to get growth hormone therapy. The only reason my last daughter was treated is because I did research and advocated for her. The geneticist who saw her when she was a year old said that she was healthy and would just “be short.” He never said anything further. I actually feel really betrayed. No one was looking out for us.
TS & Pregnancy Issues
Prenatal Diagnosis
Pregnancy Loss
Fertility Preservation
Testing options are available to determine if a fetus has TS, such as chorionic villi sampling (CVS) or amniocentesis. Tests may be conducted in response to abnormal ultrasound findings, such a heart or kidney defect. The “gold standard” diagnostic test is karyotype testing, which is completed after the baby is born.
TS is not generally considered to be an inherited condition; however, in rare cases of TS resulting from a partial deletion may be passed between generations.
For more information, visit TSF’s Diagnosing TS page.
Share Your Story
TSF thanks this incredibly strong woman for sharing her story of pregnancy loss. She reminds us of our ability to overcome pain, find joy, and advocate for a brighter future.
Every individual and family affected by TS deserves to be heard, and for those who wish to share their personal story, we provide you with this platform. Simply complete this form on TSF’s website. You can share your first name and photos if you wish, or you can remain anonymous.
Each one of us can raise awareness by using our voice to create a better understanding of the impact TS has on our
Sources
TSF Resources
About Turner Syndrome, National Genome Research Institute
Turner Syndrome, MedlinePlus
Written by Karen Green, TSF volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator. Designed by Nicole Elwell, TSF blog designer, and Susan Herman.
© Turner Syndrome Foundation, 2023
