Down Syndrome Is Most Common In Women Under 35, But Why?

This story appeared in Romper on October 17, 2016.


Courtesy of Mekel Akins Bergschneider

Michelle Sie Whitten, co-founder of the Global Down Syndrome Foundation, says that it’s important that the difference between a screening test, which only gives risk factors for Down syndrome, and diagnostic test, which definitively diagnoses Down syndrome, are made clear to patients. Prenatal blood tests are screening tests for Down syndrome, but diagnostic tests for Down syndrome still require an invasive procedure, such as an amniocentesis. She describes her organization as believing in the importance of expectant parents having access to the best prenatal information possible. This is often touchy ground for discussions of Down syndrome, because, of course, prenatal testing is often assumed to go hand in hand with consideration of abortion — a topic that is always difficult, no matter where one stands on the issue.

Sie Whitten explains that, “For the record, I am pro-choice. Global Down Syndrome Foundation is not pro-choice, is not pro-life. Global Down Syndrome Foundation is pro-information.” She tells Romper:

What we do know is that this fear of prenatal testing leading to everybody… aborting, I think is a misplaced fear. I don’t feel that fear-based action is positive action. I think that you move from a place of strength and enabling and empowering.

Sie Whitten says she believes that early diagnosis can be helpful for families to have as much time as possible to understand their child’s diagnosis.

And she speaks of this from a place of personal experience. When she was pregnant with her first child, Sie Whitten received the news that her daughter had Down syndrome. She said she was shaken, particularly by how the news was delivered. At her appointment, she was handed figures that represented chances of her child’s death before her third year of life and a list of conditions her baby would likely have if she were to survive. When she began crying, Sie Whitten said the genetic counselor responded with: “Mrs. Sie Whitten, please don’t cry, here’s a tissue 80-90 percent of people terminate; you can, too.” Instead, she and her husband learned more about Down syndrome.

She tells Romper:
When [we] met people with Down syndrome we were like, ‘Oh my gosh, we can do this. We’re going to do this.’ And we never looked back.

Since her daughter Sophia was born, she says, “we’ve been on this journey, really, in terms of being a family, and what that means having a child that we like to call ‘differently-abled.’” That journey lead Sie Whitten to form the Global Down Syndrome Foundation to help improve information about Down syndrome by funding medical and clinical research. One such project was the production of the Down syndrome prenatal testing pamphlet, a guide to help parents better navigate the news of their prenatal diagnosis.

Thanks to organizations like the Global Down Syndrome Foundation, there’s an increasing amount of ongoing research into ways to further improve the health and well-being of people with Down syndrome. Research funded by Global Down Syndrome Foundation at the Linda Crnic Institute for Down Syndrome titled “Trisomy 21 Consistently Activates the Interferon Response” and recently published in eLife, suggests that people with Down syndrome may consistently have an immune response to an infection they do not have, which could contribute to some of the symptoms of Down syndrome.

“When you look at intelligence not as a test score or an IQ, you suddenly become a lot more inclusive in terms of how you look at all people and their capabilities.”

Sie Whitten tells Romper that there are FDA-approved drugs that could help counteract the effects of this immune response, which will be tested in continued research. This kind of research for Down syndrome was relatively new when Sie Whitten’s daughter was born. She tells me that, in fact, Down syndrome research of any sort was lacking. At the time, “Down syndrome was the least funded [known] genetic condition at the National Institute of Health,” she says.

Culturing these kinds of sensitivities as we model for our children how to interact with people who are different than we are in some way is so important. However, equally important is finding the ways in which we all share commonalities. Sie Whitten explains, I think first and foremost [you have to explain] that people with Down syndrome are different, but equal [and] if you come from that ilk and you really believe in human and civil rights, you don’t know who your child is going to be or what your child is going to do, whether that child be typical or differently-abled. And when you look at intelligence not as a test score or an IQ, you suddenly become a lot more inclusive in terms of how you look at all people and their capabilities, and hopefully more respectful as well.

This kind of inclusivity and respect serves the entire population.

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