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An Emotional Diagnosis

When I was 16 weeks pregnant, a blood test revealed elevated protein levels. Initially, doctors suggested this might be an indication of Down syndrome so, after much discussion with my husband, we decided to have an amniocentesis. Once the results came back, we knew our daughter did not have Down syndrome, but we were told she did have two other conditions – Turner syndrome and Triple X. The genetic counselor who gave us the results obviously didn’t know much about either condition, and wasn’t able to effectively answer any of my questions. She did, however, stress that the pregnancy couldn’t be legally terminated after 20 weeks.

My husband and I were heartbroken and terrified. We had no idea what this would mean for our unborn daughter, for her older brother or for us. We didn’t have any appreciation for her expected quality of life, or even if she’d be able to care for herself as an adult. We spent that night talking and crying, and the entire next day researching both of these conditions and the impact of a simultaneous occurrence. First, we discovered that my daughter doesn’t have two separate diagnoses. She has a single diagnosis of Turner syndrome, but it is Turner mosaic and her specific karyotype is 45,X/47,XXX. We also found the names of several doctors and researchers who specialize in Turner syndrome, two of whom replied to my emails almost immediately.

Three days after learning of Clare’s condition, I was able to meet with both experts. They assured me that most women with TS lead totally normal and happy lives. While most girls and women with Turner syndrome experience some effects of Turner syndrome, it is very rare that a woman will experience all of the potential effects of Turner syndrome. Not only that, but all conditions associated with Turner syndrome can be addressed with existing medical treatments. My husband and I immediately relaxed. Even if Clare needed some sort of intervention, we knew her chance at a successful and happy life would be as high as anyone else’s.

Clare is now four years old. She is smart and funny and precocious. Her language skills are through the roof, and she has tested within or above the normal range on all other cognitive, social and medical measures. Plus, she is tall for her age! (That appears to be an effect of her particular karyotype.) We don’t know exactly what the future holds for our daughter – it is still highly likely that she will be infertile, her thyroid function could change, etc – but we will always be grateful to the doctors and Turner syndrome community who were able to provide relevant facts about Turner syndrome. No matter what comes along, I know we’ll have access to the information and resources we’ll need to address it.

- Kathleen Maley is a newly appointed member of the Turner Syndrome Society Board of Directors, and an active advocate, volunteer, and member of the TS community.


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