Celebrating Jon

The number tells the story.  More than ninety percent of unborn children who are diagnosed with Down Syndrome are aborted.  There is no better indicator of the “better dead than have downs” attitude that exists in our culture.  But one man, columnist George Will, tells a different story.  His son, Jon, turns 40 years old this week and Mr. Will is a powerful witness to the goodness and contributions that those with Down Syndrome can -and do – make to the world.

Will’s tribute to his son, Jon, also touches on something that unfortunately too often goes unmentioned in the disability dialogue – parents and families that share the gift of an individual with Down Syndrome feel happy and feel blessed.  Dr. Brian Skotko, a geneticist at Children’s Hospital Boston, studied these families.  His work was published last fall in the American Journal of Medical Genetics.

Skotko found that among siblings ages 12 and older, 97 percent expressed feelings of pride about their brother or sister with Down syndrome and 88 percent were convinced they were better people because of their sibling with Down syndrome. A third study evaluating how adults with Down syndrome felt about themselves reports 99 percent responded they were happy with their lives, 97 percent liked who they are, and 96 percent liked how they looked.

Take a minute and read George Will’s article.  You’ll feel a little better about humanity.

Blood test could replace amniocentesis

Pregnant women may no longer have to submit to risky amniocentesis to determine the health of their unborn child.  The new blood test, years in the creation and testing, has moved closer to being available to the general public.  With this blood test “about 98 per cent of the invasive diagnostic procedures could be avoided,” write the authors of a new study published in The British Medical Journal.

The blood test utilizes “multiplexed maternal plasma DNA sequencing” to analyze genetic material in the blood from both the pregnant woman and the unborn child.  The separated DNA is then used to determine genetic diseases such as Down syndrome (trisomy 21) and some other less common birth defects.  In addition to not subjecting pregnant women to risk of miscarriage or infection, the blood test has the advantage over amniocentesis because it has a lower rate of false negatives (actual cases of genetic abnormalities are missed) and false positives (false diagnosis of genetic abnormalities).

This blood test has the potential to save countless unborn children by not subjecting them to the risks of amniocentesis and allowing for early diagnosis and treatment of prenatal problems.  Yet there is a darker side to the uses of this medical technology.  The test would be more exact in determining the sex of the unborn child and the more accurate information could lead to an increase in sex-selection abortions.

Experts are also concerned that the test will lead to further stigmatization of disabled people. Currently, close to 90 percent of unborn children diagnosed as having Down syndrome are aborted.  Surely a test such as this will only move that number closer to 100 percent.  We’re left to answer the question of whether or not it right to target the handicapped for extermination in the womb – such is the blessing and the curse of technology.

The blood test remains very expensive relative to the older diagnostic tools.  It is expected to be available for approximately $700.