This week, a purchase from Sevenly will provide a booklet that gives critical information to expectant parents who have recently learned about a prenatal diagnosis of Down syndrome. With your support, parents will receive tools and support to understand a prenatal diagnosis. Your purchase will give much more than a book, it will give a lifeline.
New blood tests, known as non-invasive screens (NIPS), are leading to more and more women receiving a prenatal diagnosis of Down syndrome. Sequenom recently reported that its MaterniT21 Plus test has now been run more than 100,000 times. As a physician in the genetics community, I appreciate that these tests can help women avoid procedures such as amniocentesis or chorionic villus sampling that carry a small risk of miscarriage. However, with this growing industry of prenatal testing, I care deeply about whether patients are receiving accurate, up-to-date, balanced information so they can make informed decisions.
As a medical professional, I am not in the business of telling expectant couples what pregnancy decisions they should be making when their fetus has Down syndrome; however, I do want to make sure they understand what a diagnosis of Down syndrome truly means. When my research colleagues Sue Levine, Rick Goldstein, and I surveyed more than 3,000 families nationwide who have a member with Down syndrome, 99% of parents said they truly love their son or daughter with Down syndrome; 88% of brothers and sisters said they are better people because of their sibling with Down syndrome. People with Down syndrome themselves shared their feelings too: 99% are happy with their lives, and 97% like who they are. My sister with Down syndrome certainly does.
Fortunately, the solution has already been created to make sure expectant parents learning about a prenatal diagnosis of Down syndrome get the information they need. The medical community has helped create the gold-standard Lettercase book, Understanding a Down Syndrome Diagnosis, with accurate and balanced information for expectant couples. The books are available in English and Spanish and cover common medical conditions for people with Down syndrome, available health and education services, resources, and authentic photos of people with Down syndrome in their communities. But, our biggest challenge is actually getting a copy into the hands of every medical professional and patient who might need it.
So, please join in this effort by purchasing a t-shirt or sharing sevenly.org on your social networks this week.