This post is part of the Turner Syndrome Foundation’s (TSF) monthly blog post series My Story, which highlights the varied experiences of individuals with Turner Syndrome (TS) and their families. Below is an account by Marlene, whose daughter Eliana (Eli) was born in February 2020 and diagnosed at two weeks old.
As always, each person’s journey with TS is different, and their medical needs and treatments vary. This is just one account. Please consult with your own medical providers and resources on the TSF website to help determine what is best for you or your child.
During Pregnancy with My Daughter Eliana
During my early pregnancy with my daughter Eli, the doctors told me I was having a boy because the NIPT test (noninvasive prenatal testing) revealed an XY chromosome. We were excited to find out we were having a boy and had a small gender reveal for my family. It wasn’t until I had an anatomical ultrasound at six months that they told me it was, in fact, a girl. The doctors were confused, and so were Eli’s dad and I. They ran more tests, but for some reason, they never brought up Turner Syndrome (TS) at the time. I didn’t even know the condition existed.
I saw a specialist a couple times to have a 3-D ultrasound so that they could get a clearer look at Eli and her genitalia (they told me there was a possibility she could be a hermaphrodite), and everything looked normal. The specialist asked if it was okay to run bloodwork once Eli was born, and I said yes.
The doctor ordered bloodwork the same day my daughter Eliana was born. Two weeks later, they called and said they wanted to talk to me regarding the results. The specialist briefly explained to me that her bloodwork still revealed XY, and that we needed to come in and talk to the genetic specialist in person. I went alone to speak with her, not telling anyone–not even her dad–because I wasn’t sure how to handle the news I was about to receive. I was scared and didn’t want to worry him or anyone else in our family.
The geneticist told me Eli had mosaic TS and showed me a book with the different classes of TS, circling the type Eli had. I just remember breaking down, crying and holding Eli tightly. It was so confusing, and I didn’t quite understand what exactly her condition was. I came home that same day in tears and gave her dad the news I had just received, which he also took it pretty hard.
My Changing Perspective
My perspective has changed a lot since I first learned about my daughter Eliana’s diagnosis because I have done lots of research and met a few girls with TS on social media who have been super helpful and amazingly sweet to me. I asked lots of questions, and they never hesitated to answer any of them and give me great advice. Talking to them made me feel a lot better and even inspired me to teach others about TS. I made an Instagram for Eli [@mommy_and_eli_jade] to bring awareness, since so many people don’t know about the condition. It isn’t talked about enough, and there is so much to learn. I am still learning myself and will continue to learn more as Eli grows. We are proud TS parents; we love our little butterfly so much.
Ongoing Medical Treatment for My Daughter Eliana
My daughter Eliana recently had surgery on August 11th to remove her ovaries, because she already had ovarian failure. When a girl has mosaic TS, she has a higher chance (30% to 75%) of developing cancerous tumors in her ovaries, so she needed surgery. I turned to Arnold’s (Eli’s dad) and my families for support. We are very blessed because both of our families are 100% supportive.
I asked the doctor so many questions after Eli’s surgery. The first was if they saw anything abnormal in her ovaries when they removed them. The surgeon said they were too small and already looked like they were underdeveloped for her age. He said he was glad they had done the surgery, for that reason. I asked if there was any chance she could conceive later with an egg donor, and he told me yes. This gave me a little bit of hope, in case she does want to have kids. Eli’s recovery has been smooth and almost like she hadn’t had major surgery. She is a very energetic and happy baby.
My Advice for Parents
If there is another family that is facing a similar situation as we did with my daughter Eliana, my advice would be to:
- be supportive along every step of the way;
- ask lots of questions (even if you feel like they are silly questions, please ask away, and don’t hold back);
- give your baby lots of extra love;
- be sure to do your own research; and
- if possible, reach out to anyone who is a TS butterfly or a parent of one.
Written by Marlene, mother of a girl with TS, and edited by Susan Herman, TSF volunteer blog post editor and translator.