System of a Down's

I have a few thoughts on this Syndrome.
The first one is personal. Not too many people are aware that we have a fifth son named Samuel, a Down's syndrome baby who was stillborn at full term. I did try to resuscitate him. I don't recall ever being so grieved, frightened, and angry at any time in my life before or since. On the other hand, powerlessness may feel horrible at the time, but over time it is a most valuable experience-especially for those who value the life of the mind, science, medicine, and the need to be in control. In general, medicine is a cruel mistress, because it is assumed that you always must be in control, while in your heart you realize that most things-especially people- are either out of control, unmanageable, or singularly anomalous. Quite often one has to use language to convince one self and others that you are actually helping. But in a situation like this, one can say absolutely nothing at the time that makes any sense. Screaming and wailing did come to mind but I didn't think that would help Flo...........
What I did not know until today is that the 50th anniversary of the discovery of the etiology of Down syndrome was last September. The story is a fascinating one and occurred in France. In 1959 Dr. Lejuene analyzed the karyotype of children with Down syndrome and was amazed to discover that the 21st gene was in triplicate! But that was not all that he discovered. He was also credited with discovering the "cry of the cat," syndrome (cri du chat") in which the child does in fact make a noise that reminds one of a cat's cry. Most medical students find this particular syndrome quite easy to remember! But he also discovered the connection between folic acid deficiency and open neural tube defects which includes a wide variety of unfortunately not uncommon effects of the spine including herniation and anencephaly in which the child is basically born without a brain. This is the reason why every mother and her prenatal care is instructed to take extra folic acid. It all started with Dr. Lejeune.
This is of particular interest to me because I am currently reading, "The Fall" by Albert Camus, another French genius who occasionally wrote about medicine by means of his fiction. The idea of a "judge penitent" is just beginning to form in my mind. Thanks to my Dad for reintroducing me to his novels and sending me a copy of this recently. Given the ability shielding the fact of inability to make judgments on the intrinsic value of another person whose life I will never live or understand, one would think this common situation would induce ethical paralysis of a sort. However, Down syndrome people are becoming an endangered species. It seems ironic that some of us feel that the Neanderthals were not given a fair shake so to speak. It is even more ironic that children with Down syndrome seem to be what I would like to be, "unoffensive and unoffendable ." I had the privilege of being able to know firsthand people with Down syndrome when my mother worked as an occupational therapist in the Dixon State School. Her compassion and ability to administer to the disabled are, at least in my own mind, a thing of legend but a true one which I do strive to emulate.
In those days i.e. the 50s and before, parents were firmly advised to put these children away lest they harm their siblings. I think research would indicate quite the opposite, that families who care for a Down syndrome child are particularly blessed and that siblings tend to work together and learn cooperation and compassion far more than they learn prejudice and sibling rivalry. This is not universal however; it really completely comes down to one's assumptions and attitudes toward the disabled as well as toward life in general. As one person has put it, when faced with something that the world considers a tragedy, one can either become " better or bitter". In my medical practice in working with Down's adults, I find that the treatment of handicapped people in general is a paradigm for life itself which is inevitably tragic at times. Sometimes it is a tossup as far as which attitude prevails; but I can say this-there are an awfully lot of bitter people out there and there is no medical cure for bitterness of spirit.
I infer, as does walker Percy, that life is a gift "concomitant with the offense." This is a little bit out of context but I think it might promote a little discussion. Anyway we can be thankful for Dr. Lejeune if not for his discovery of an extra chromosome than at least for his discovery of a key to actually prevent major congenital anomalies which is in almost universal use today. However, when a scientist does base his life and work on the handicapped, he merits only less than a page on Wikipedia. Go figure.