The Observer, November 9, 2007
Volume XL, Issue 10
Medicine Today: Down syndrome simply a state of being
In the realm of genetic diseases and congenital anomalies, Down syndrome, the most common, stands out. The strong majority of its cases are entirely sporadic, rather than inherited, and if able to escape major life-threatening conditions at birth – as a good number do – individuals with Down syndrome can live in relative good health.
Down syndrome is caused by the presence of an extra chromosome 21 in addition to the normal maternal and paternal pair. While certain complex inheritance patterns can give rise to the abnormality in rare instances, the most common etiology is the maternal production of an egg with two 21st chromosomes instead of the normal one (the father will contribute one copy of the chromosome in his sperm).
Without indications from prenatal maternal blood screening or ultrasound or confirmation from karyotyping – all frequently offered or even recommended, but ultimately optional – the birth of a Down syndrome baby can be a complete and utter shock.
As the parents of a beautiful daughter with Down syndrome explained to our medical school class, immediately after their child was born, while they suspected something (the husband is a physician, though not an obstetrician or geneticist), the normally chatty nurses became tight-lipped and tiptoed around the delivery room and their obstetrician disappeared saying only that he and other physicians would be back to see them soon.
In a matter of hours, a geneticist came to examine the baby and offer diagnostic genetic testing and then a cardiologist came by to see how the baby's heart was doing. The feeling was one of: who would walk through the door next? What else was wrong with their daughter that needed inspection?
To the family of a Down syndrome baby, the abnormality is most often a complete shock with no warning. Looking forward, the baby's life will hold certain specific challenges, but may also have the potential to be relatively free from medical tragedy.
Of course, as they willingly explain, the parents we met were extremely lucky; their daughter avoided the myriad of catastrophic ailments that can threaten the lives of Down syndrome babies and has a mild case of cardiac difficulties on a scale that ranges from manageable to severe.
Individuals with Down syndrome have distinct personalities, can often function in modified but legitimate educational environments, and are able to develop individual and meaningful relationships. They laugh, cry, play games, have preferences, and experience human sensation and emotion. It is all simply on a different plane than those without an extra chromosome 21.
How difficult it must have been in the time period when the couple had come to embrace their child's uniqueness, but could not yet confidently and articulately explain it to others. When seeing old friends or meeting other families for the first time, how could they explain that their daughter was just perfect despite the fact that she would never have an IQ much above 70?
From the parents of the beautiful girl with Down syndrome, a theme that emerged was that they do not want to hear "I'm sorry" when they tell people about their child. They don't even want empathy. You see, to them there is nothing to be sorry about. Down syndrome is not a disease; it is simply a state of being and part of who their daughter is.
George L. Anesi is a first-year medical student and graduate student in the department of bioethics. He can be contacted at george.anesi@case.edu.
