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My Story: Giving a Voice to Turner Syndrome

As part of its monthly My Story series, the Turner Syndrome Foundation (TSF) highlights individuals with Turner Syndrome (TS) and their parents or caregivers. In this post, Rebecca, a 23-year-old woman who was diagnosed with TS in utero, shares her story and journey towards accepting her diagnosis and giving a voice to Turner Syndrome.

Note: Everyone’s journey with TS is different. Please consult with your health care providers for guidance regarding your health issues and appropriate treatments.

Giving Myself Permission To Talk About My TS Diagnosis

I’d like to talk about something I have never shared publicly; I’ve always kept it secret). I was born with a chromosomal abnormality called TS, or Monosomy X. I don’t have all my sex chromosomes; I’m not XX or XY. My mother learned of my diagnosis when she was four and a half months pregnant with me.

I’m so incredibly happy to have found the TSF. I’m just now accepting that I can talk about my diagnosis, even though I have mosaic TS. I’ve never felt like I truly fit in the community, since I’m not “100%” (classic TS, or having only one X chromosome). It sounds silly, but even though I participated in a clinical study in Seattle until I was 16, saw my abnormal karyotype, and even injected myself with growth hormone for years-, my phenotype (set of observable characteristics) was so normal that it was hard for me to connect to others.

What Others Didn’t Know

Rebecca as a baby and young child with her family

I happened to land on the side where I have a mild physical manifestation of my absent chromosome. But when I asked my college-prep biology teacher to include TS in a lesson on chromosomes, the choir of “Ewww! Look at that neck!” from my classmates upon seeing photos of a TS patient hurt me to the core. It made me never want to outwardly include myself in the absolute miracle that are all individuals with TS. But now I am ready! I am strong enough to help, to stand up and inform others, and to give a voice to TS.

I have all of my reproductive organs and reached 5′ tall (thanks to human growth hormone, or HGH, therapy). My classmates, co-workers, and friends didn’t notice my low hair line, differently shaped ear lobes, or the slight webbing of my fingers. They didn’t know about the multiple surgeries I had due to complications from inner ear infections, or the pain of years-long lab work and injections, or that I was in a clinical study for 16 years. They didn’t understand why it was so important for me to have regular cardiology and endocrinology appointments.

Most people didn’t even know about the mental and developmental struggles or the speech therapy I’ve had, much less my reproductive concerns. Most of all, they didn’t understand how alone that can make you feel. For 23 years, medical professionals lacking specific knowledge of TS have told me repeatedly that I “don’t look like I have TS.” That should have made me feel invalidated, but I always just agreed and completely understood why they would say that, invalidating myself in the process. What bothers me the most is when I have to explain TS to a physician.

The Impact of TS

Mothers, fathers, and families every year lose their babies to TS. It’s rare, and it’s real, and it is also very hard to talk about. The babies with TS who do survive to birth (only 1-2%) are on a spectrum, in terms of the severity of their physical characteristics and health issues.

We individuals with TS will go through a life-long journey of acceptance, patience, and above all, strength. That is, by far, the hardest thing I am currently working on. Just acknowledging my TS to others has been a major challenge. I love being part of a community of people sharing and listening to stories, raising awareness, and conducting outreach. We are giving a voice to TS. We need each other.

Giving Credit Where Credit Is Due

I’d like to end where all TS journeys begin–with my mother. She had to deal with doctors telling her throughout her pregnancy that she was “better off having an abortion” and that I “would never be normal” and “couldn’t survive.” Once she said “no” and I was born, she had to struggle warnings that I would “never make it past one year old.” I just celebrated my 23rd birthday, thanks to her. I am grateful to her for teaching me the importance of giving a voice to Turner Syndrome.

Written by Rebecca, a woman with TS, and edited by Susan Herman, TSF volunteer blog post editor.


Visit the TSF web page for more information on living with TS and taking action to support the TS community.

See more of the My Story blog series and other posts here.

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