POV: My Life with Turner Syndrome
Genetic screening does not necessarily predict the future
I sometimes wonder what difference it would have made if my mom knew that I had Turner syndrome (TS) while she was pregnant with me.
She is adamant that she never would have aborted me. But today, prenatal genetic screenings and other fetal tests for Turner syndrome are widely used, and I worry that too many are making irreversible decisions without understanding the disorder. Studies around the world have shown parents abort an average of 76 percent of fetuses found to have TS.
Like Down syndrome or autism, Turner is a spectrum disorder with symptoms that range in severity, and a diagnosis is no indication of what an individual’s life will be. A girl who has it—like me—can be happy, intelligent, and highly successful.
I wasn’t diagnosed until I was four. I was on the short side of average, but my grandmother was 4 feet, 10 inches, so that wasn’t completely surprising. There was, and still is, nothing visibly wrong with me. I was a pretty normal child who loved singing tunes from the The Little Mermaid.
But just search for “Turner syndrome” on Google, and you’ll find possible symptoms that would make any pregnant woman pause. Infertility. Webbed neck. Kidney failure. Learning disability. Skeletal abnormalities.
TS is a random mutation caused by complete or partial absence of the second sex chromosome. It occurs in approximately one of every 2,000 live female births. “At the basic level, the missing genetic material keeps the female body from maturing naturally,” according to the Turner Syndrome Support Society.
My mom has a PhD in biology and had taught students about the disorder before her pregnancy with me. Mom tears up when remembering the long list of problems doctors told her I could face. “You’d be put on growth hormone, your rib cage could be a different shape from normal, causing respiratory problems, you could have kidney infections…a heart murmur, low educational prospects…There were 18 or 20 scary things on there.”
She reacted by asking, “What will Caitlin be good at? Because whatever it is, we’ll just focus on that.” Over the years that followed, we were able to cross most things off the list of dread, and the symptoms that remain have had minimal impact on my life. I am only 4 feet, 11 inches, a giant among Turner girls, after being on growth hormone for 10 years. I have one very large kidney (not the worst kind of kidney deformity that sometimes comes with the condition). And, yes, I am not great at algebraic equations.
There were embarrassments: sneaking off to inject myself with growth hormone at Brownie camp and wishing I was better at catching when playing netball. And worse: the nauseating feeling when I was in a new relationship and had to decide how much detail to give. Would they still like me? Was it too soon? These questions permeate my heart-doodled diary.
I have a type of TS called mixed gonadal dysgenesis, which carries a high risk of ovarian cancer. So when I was four, my parents decided to have my ovaries removed, meaning I am now infertile. I have never disagreed with their call—they were asked to make an impossible choice.
At age five, infertility is just something to understand, almost an abstraction. But now, at 25, watching my friends become mothers makes my situation much more pertinent, and occasionally very sad. That said, I have always hoped to adopt, and with fertility treatments improving all the time, who knows what options there will be when I decide to start a family.
I find my symptoms frustrating rather than devastating, and my life has been much more normal than the horror stories many pregnant women hear when they are told their fetus may have TS. This syndrome is not my identity.
I owe this attitude entirely to my family, who never let me use TS as an excuse. If I was struggling with math, I worked harder at it. If I was gaining weight, they’d support me in doing more exercise. If I complained about my height, they reminded me that my idol, Judy Garland, was also “a smidgen under 5 feet.”
I grew up in the U.K. When I was 18, I was one of the winners of the Prime Minister’s Global Fellowship, which took me to India. I have helped set up a women’s empowerment project in Nepal and a cancer hospital in rural Kolkata. At 22, I won an international competition and was given £10,000 to found a social enterprise dedicated to small-scale human rights projects.
Despite being told that TS girls struggle academically, I have earned a bachelor’s degree and a master’s in international relations and am now in the final semester in pursuit of a second master’s, this time in journalism, at Boston University.
Right now, I am an intern at the New England Center for Investigative Reporting, where I recently helped report on issues with prenatal genetic tests that indicate the likelihood of TS and other syndromes. I’m also a teaching fellow at college, and a writer for Words in the Bucket—an online publication dedicated to promoting human rights and gender equality. And I am in a long-term relationship with a wonderful guy, who finds my wanderlust much more inconvenient than my height.
I set this down to highlight a life that many would not think possible of someone with a genetic disorder. It saddens me that expectant mothers do not see my life as an option for their unborn daughters when TS is diagnosed. If they are only told of everything that may go wrong, they naturally conjure up the worst-case scenario.
I don’t in any way mean to diminish the complications of TS. For some girls, it’s debilitating. I may be lucky to be at the milder end of it, but I am equally representative of what life with the disorder can be.
I have mixed opinions on abortion: I fully support a woman’s right to choose, but am nauseated by the thought that a mother could terminate her TS daughter because she wasn’t adequately presented with the full spectrum of examples. I worry that this variation is not explained, particularly when discussing prenatal genetic test results.
Genetics has never dictated my achievements, so I don’t think anyone should assume life with Turner syndrome will be awful. Doctors and genetic counselors need to provide a fair and accurate representation of the disorder—which should include the stories of people like me.
Caitlin Bawn (COM’16) can be reached at firstname.lastname@example.org. This column originally appeared on the New England Center for Investigative Reporting website.
“POV” is an opinion page that provides timely commentaries from students, faculty, and staff on a variety of issues: on-campus, local, state, national, or international. Anyone interested in submitting a piece, which should be about 700 words long, should contact Rich Barlow at email@example.com. BU Today reserves the right to reject or edit submissions. The views expressed are solely those of the author and are not intended to represent the views of Boston University.
I have a friend with Turners and like yourself, she too is very successful. In fact, she not only graduated from BU but today she is an practicing MD having also graduated from medical school.
Best wishes in all your future endeavors!
Great essay – thanks for sharing your story
Thank you for sharing!
What an achiever you are, Caitlin! Keep up the good work. Our world needs more people like you.
Thank you so much for writing this article. It is very well written. A great way to get across the message of the wide spectrum of Turner Syndrome. I speak to many women who have to make the decision to terminate or carry on their pregnancy. I feel they are making these life changing decisions with inaccurate information. The truth is no one knows how a baby with TS is going to be affected by TS until they start to develop. Like you said many can do a great deal more than expected. Congratulations on your degree, it just proves with hard work and determination you can succeed in life. All the very best for the future. Kind regards Arlene Smyth Executive officer of the Turner Syndrome Support Society [UK]
Catlin You are amazing I think if there were more women like you people would need to give up negative attitudes really quick The article is well written amazing tells the story from the heart and the positive and hard times too Wish there were more people Like you I myself have TS and have achieved well above expectations so this article tells the story and also reminds me of other WONDERFUL WOMEN OUT THERE GOD BLESS YOU
I’m a lady of 35 years who was born with TS but had no idea what it was until 2015 March when my doctor asks me if I was born this way.growing up was hard,I was mocked n called names,I was too slow n stupid at school but I managed to pass every class,even though mathematics was the huge problem.i grew up with a very low self esteem.Finding out my condition made me accept me n love myself.i have a 6 year old son n I’m aspiring business women.i have so much faith in me because of knowing my condition.its not my parents nor myself’s mistake.i live by the verse inthe bible that says ‘i can do all through Christ who strengthens me”.now as I write this I’m a confident woman with knowledge of who I am n who is proud to tell people my condition.
I really enjoyed reading your story. I have an 8 year old daughter with mosaic turners & although she has been through the wars & had many operations she just soldiers on & doesn’t let anything stop her doing anything she wants . I was told when I was pregnant that she had TS but only looked to the future & I would not change her for the whole world xx
Like the others before me, I found inspiration and delight reading your story. To say that you have a gift for writing is an understatement! Your story brought tears to my eyes. Ever thought of writing a book?
I have a daughter with Down Syndrome. I am very moved with what a lady with TS have said about her. I would feel sad about her situation. And my daughter with Down Syndrome know what motehrs do when they knew their children have Down syndrome. She thinks abortions will be killing babies. She is not successful in the society, still she is happy in the society. She is teaching people that she is happy by living with many people, and making them happy.
Fantastic blog. Ths is exactly what parents need to be told when a diagnosis is given – this is a child who deserves life. No doctor can predict the future for any child typical or disabled, parents need support and help not given the worse case scenario. (Mum to a 20 year old with Down’s who despite the warnings that she “will be a burden for life” is living independently with minimal support and “loving it!!”
I had read about Turner’s syndrome while I was in school as a teenager. Caitlin Bawn has turned most of her impossibles to possible. A blog so well written and expressed. I am a dentist and at 44yrs of age , I can truly appreciate what Turner’s Syndrome is and how this blog has been an eye opener. Caitlin has been blessed with a beautiful family who have everything called ” self belief .”
This is so well written and very reflective of my own experience as a 25-year-old with mosaic Turners. Thank you!
I just wanted to say thank you for your words. My partner and I are 18 weeks pregnant with a little girl diagnosed with TS. Doctors are asking us to “choose” if we “wish” to terminate the pregnancy. This is an impossible choice to make and I feel we have no authority to take such a decision.
I have Ts. I have to say it has never really impacted me physically. Emotionally it can at times take its toll. Growing up taking hormones, infertility, and other small things thay come with it can make an impact over time. I struggle with social anxiety, but I think a lot of people do. The hardest part is letting potential partners know about your situation. Luckily, I found an amazing man who has been with me for over 9 years.
I agree inspiring j was diagnosed with ts when I was 6 now Im 43 and although I went through so much in my life because of ts I have not given up life and I have 3 children and have been successful in my life doctors should always consider there patients and facts not just give there take on syndromes r illnesses because they told my mom and me that I would not develop are beable to have children but I did without medication because I got really sick from the medication
Thank you Caitlin for this piece. Very inspiring! I stumbled upon your article , and as a 25 year old woman with Mosaic TS, your story is quite similar to mine, and has inspired me to one day share my own journey. I hope with time, we can raise more awareness of this health “challenge,” and hopefully encourage science to move along with us little by little
[…] having Turner Syndrome have either one copy of the X chromosome absent or partly missing. Or also can say that they have […]