Project Heritage News
I nearly aborted my baby because of an unreliable test
Feb 8, 2019
After years of medical issues, 41-year old Claire Bell and her husband decided to try to have a baby. Miraculously, the first round of IVF treatment worked and Claire became pregnant. They paid out of pocket for a Non-Invasive Prenatal Test (NIPT) to check if the fetus had any chromosomal abnormalities, which can be more common with increased age of motherhood. After 5 emotional years of cancer therapies for Claire’s husband, they were worried that they wouldn’t be able to handle raising a child with Down Syndrome. Part of the test asked if they wanted screening for other chromosomal abnormalities, including determining the gender, so they agreed.
When the results came back that their unborn baby was a girl and had a risk for Turner syndrome Claire felt devastated. Turner syndrome can have a variety of symptoms, such as short stature and reproductive health issues. The clinician described a grim quality of life for patients with Turner Syndrome. Accepting the genetic test result as fully certain, Claire said “I couldn’t stop crying. I couldn’t walk more than 200 [meters] at a time, I just felt hopeless.” Pregnancy termination began to look like a merciful escape for her daughter.
Later that day, one of Claire’s friends told her she should ask more questions about the test, especially about its accuracy. Claire, an investigative journalist from South Africa living in the United Kingdom, began making calls.
She found out that positive results from the test that was used for Turner Syndrome only had about a 40% chance of being accurate for 41-year old women. This meant that even with a positive result, Claire’s daughter had a 60% chance of not having the syndrome at all. Shocked, Claire and her husband consulted with each other and family and ultimately decided to continue the pregnancy. Born in June 2018, Claire’s daughter, Fintry, is still healthy and happy and shows no signs of Turner syndrome.
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The Unfulfilled Promise of DNA Testing
May 17, 2019
When Esme Savoie was born, her parents immediately knew something was irregular. Born limp and blue, she soon experienced developmental delays and seizures. Esme’s parents initially resisted using genetic tests to diagnose the problem, but as her problems continued they realized that having answers would help doctors treat her symptoms. One of the first tests gave the promise of an answer to her condition. Esme’s parents joined support groups and started new treatments. Esme’s mother began a foundation and started attending research meetings around the country.
2 years later, her doctors called. New developments in genetic research revealed that the DNA mutation they previously thought explained her disease was a benign variant. But they had a new answer: a different mutation in a different gene that could explain her disease. Esme’s parents left the disease community they had helped to build and joined new parent support groups. The newly identified mutation was in a recently discovered gene, so it hadn’t even been available for testing two years previously. Esme’s parents felt uprooted from the tight-knit community they had built, but did their best to integrate into a new circle of friends and supporters.
6 months later, the doctors called again. Although the second diagnosis could still explain Esme’s condition, geneticists had determined that two other DNA variants in other genes were much more likely to explain Esme’s condition and would lead to different therapies for Esme. This time, Esme’s mother stayed in the support groups they had previously joined. After being uprooted from one community of parents, she didn’t want to be completely uprooted again. And, she knew that the second genetic mutation might explain at least part of Esme’s condition.
Esme, 8 years old in 2019, continues to experience developmental delays and health challenges. She goes to a special school, has pool therapy to help her mobility, and loves playing with toys. Her parents still don’t have all the answers, but new genetic testing developments may potentially provide more information. Esme’s parents know that even though they have some potential answers now, because the field is rapidly evolving, those answers are likely to change. For now, they continue searching for answers as new tests and research becomes available.
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