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Down Syndrome - detectable, not preventable
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the Palin family
Until an hour ago, I didn't know much about Sarah Palin, McCain's surprise VP candidate. But I can quickly conclude she must be enormously organized, gutsy and determined. Not only is she governor of Alaska, she has 5 children. And one of her children has Down's Syndrome. Her daily life must make a White House press conference look like zen meditation.
Down Syndrome, which occurs in 1 out of 800-1000 births, us caused by a genetic defect on chromosome 21. All of part of an extra chromosome is present. Physical effects include:
- cognitive impairment, from mild to profound learning disabilities
- distinct facial features, including almond shaped eyes and an extra fold in the eyelid
- shorter limbs
- poor muscle tone
Health effects can include:
- congenital heart defects
- pulmonary hypertension
- ear infections and reflux disease
- sleep apnea
- low thyroid
- shorter life expectancy
What are the risk factors? Maternal age is the best known risk. The general incidence is about 1 in 800 births. That rate is halved by the time a woman is 35 year old, and goes to 1 in 100 by age 40. At age 45: 1 in 30. In addition, the risk goes up if the mother already has one child with Down syndrome, or if one or both parents have the gene disorder themselves.
Until relatively recently, parents had little help from the medical or mental health community. Down Syndrome children were not mainstreamed into schools, and adults with Down syndrome were typically institutionalized. Until 1961, the syndrome was commonly referred to by the term "mongolism", because of the facial similarities to the Mongol race. In 1961, leading geneticists proposed that the term was misleading and derogatory, and should be changed. They proposed using "Down's Syndrome", after physician John Langdon Down, who first described the syndrome in 1862 as a distinctive form of mental disability.
Now, early childhood intervention helps these children lead more normal lives, and community resources are available to help families cope with the extra demands of a Down syndrome child. At 3 years of age, these children are guaranteed educational services under the Individuals with Disabilities Education Act (IDEA). Many Down syndrome adults now live semi-independent lives and hold jobs.
Ironically, the chance of the genetic defect that leads to Down syndrome is one of the factors behind genetic testing in early pregnancy, such as amniocentesis. This test can detect Down syndrome before the baby is born. There is no intervention to "cure" the genetic alteration, and some women elect to end these pregnancies. This choice leads to a whole host of religious and political arguments. Ms. Palin, a pro-life advocate, is living that reality. She learned during the pregnancy that her son, Trig, had the genetic defect. She and her husband set up a website to welcome his birth, where people have posted their own personal stories of life as parents of Down Syndrome children. It will be very hard for the Democrats to justify any kind of political attacks based on her pro-life stance. They will end up looking mean-spirited at best, deranged at worst. Was McCain crazy to make this pick? Maybe crazy like a fox.
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