Reactions to the news of the researchers "turning off" the extra 21st Chromosome that is the genetic cause of Down syndrome continue to be shared. Yesterday brought the most concise explanation of the actual research and a question that has not yet been raised about it. Continue Reading
July 24, 2013
Down syndrome is not incompatible with life
I've talked about how receiving a diagnosis of Down syndrome can be a gut-punch. One that hits you. But, there are other perspectives on a Down syndrome diagnosis. Continue Reading
July 15, 2013
Syngamy: when you became a unique individual
Several years ago, I learned about "syngamy." It informed how we are to think of one another. I had reason to be reminded of it for a couple of reasons this week, one circumstantial and one sad. Continue Reading
June 26, 2013
What every woman needs to know about Down syndrome prenatal testing, a review
Earlier this year, Amy Julia Becker released a new book entitled, What Every Woman Needs to Know about Prenatal Testing: insight from a mom who has been there." As with everything Becker writes, it intertwines compassion with needed analysis of a decision all pregnant women will confront in this new age of prenatal testing. Continue Reading
June 20, 2013
How do you view those labeled “handicapped”?
I was part of the generation that grew up with Mr. Rogers. In his caring way, he taught us many things. Some videos now available on YouTube share his lesson in word and deed on how to view others, particularly those with disabilities. Continue Reading
May 15, 2013
NSGC on Down syndrome prenatal testing: What’s essential (and what’s not)
Three other professional organizations have issued statements on the newest form of prenatal testing for Down syndrome. But, the National Society of Genetic Counselors make clear what is essential information expectant mothers should receive. Continue Reading
March 12, 2013
So many choices: what does each do & how much do they cost?
Next week, I travel to Phoenix to give a poster presentation at the 2013 Annual Meeting for the American College of Medical Genetics (ACMG). I receive a daily invitations in my inbox to visit the booth for one of the manufacturers for the new Non-Invasive Prenatal Testing (NIPT). But what does each test test for, and how much do they cost? Continue Reading
March 7, 2013
How to deliver a Down syndrome diagnosis?
With the advances in prenatal testing and guidelines recommending prenatal testing be offered to all expectant mothers, more Down syndrome diagnoses are being delivered than ever before. But how should a Down syndrome diagnosis be delivered? Fortunately, there is a very helpful resource that is also a professional guideline by those who should know best. Continue Reading
March 6, 2013
“What you call people is how you treat them”: the significance of the r-word campaign
Today is the day to raise awareness about the R-word campaign, led by Special Olympics and Best Buddies. You can sign the pledge here to make "retard" and "retarded" go the way of the "N-word" and become the "r-word." It is a significant campaign, even if some consider it mere semantics or political correctness. Continue Reading
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