Life with Turner syndrome: Education and support are essential

by Stephanie Meredith

In a recent article, “POV: My Life with Turner Syndrome (TS): Genetic screening does not necessarily predict the future,” Caitlin Bawn writes about her experience growing up with TS and her concerns about screening that can detect the condition prenatally. She worries that pregnant women undergoing prenatal screening will not receive information about the spectrum of outcomes for girls with TS as they are making reproductive decisions. While Bawn’s story focuses on Turner syndrome, she touches on a key issue with prenatal screening for a range of conditions as increasing numbers of expectant parents and providers are put in the position of figuring out what a diagnosis means.

Bawn explains that her mom was worried when Caitlyn was diagnosed with TS at four years old. However, Bawn has earned advanced college degrees, traveled the world, worked on significant humanitarian projects, and currently works as an intern at the New England Center for Investigative Reporting. She is also in a long-term relationship and looks forward to having a family someday through adoption or assisted reproduction. While she is shorter than average and has fertility problems that are common for women with TS, she wants expectant parents to know that women with TS can lead fulfilling lives amidst some of the inherent challenges with their condition. Bawn writes:

“I set this down to highlight a life that many would not think possible of someone with a genetic disorder … If [expectant mothers] 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.”

As prenatal testing expands to detect increasingly more genetic conditions, more expectant parents are desperate for information to explain the condition. It is not enough to explain just the possible medical issues; expectant parents have repeatedly said they want to know what life is like for people living with these conditions. (Sheets 2011; Levis 2012). Unfortunately, the confluence of limited funding, limited genetics training for obstetricians, limited human resources, and underfunded and understaffed patient advocacy groups has meant that many expectant parents feel isolated and confused following their prenatal screening results. Currently, our National Center for Prenatal and Postnatal Resources (lettercase.org), the Genetic Support Foundation (geneticsupportfoundation.org), and the Perinatal Quality Foundation (perinatalquality.org) are among the few academic/non-profit entities using limited budgets to provide the spectrum of support and resources for families undergoing prenatal screening.

It is a public health imperative that we as a society provide a framework of support for the families at the other end of these tests so that expectant parents receive the full range of information they need during that critical moment when they receive a diagnosis. Regardless of the abortion politics that sometimes surround these discussions, most stakeholders can agree that expectant parents deserve to receive accurate, up-to-date, and balanced information following positive test results. Bawn adds:

“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.”

This challenge requires a societal commitment of resources, time, and funding to truly make sure that families consistently receive support, educational materials, and services.

Resources:

Genetic Support Foundation. Genetics and You. https://www.geneticsupportfoundation.org/genetics-and-you

Levis DM, Harris S, Whitehead N, Moultrie R, Duwe K, Rasmussen SA. Women’s knowledge, attitudes, and beliefs about Down syndrome: a qualitative research study. Am J Med Genet A. 2012;158A(6):1355–1362. [PubMed entry]

Sheets KB, Best RG, Brasington CK, Will MC. Balanced information about Down syndrome: What is essential? Am J Med Genet A. 2011;155:1246–1257. [PubMed entry]

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