At long last, on a blog titled “Down syndrome prenatal testing” where a book on Down syndrome and prenatal testing is being serialized, after three chapters, we arrive at my exposition on Down syndrome!
The Mongolian type of idiocy occurs in more than ten per cent of the cases which are presented to me. They are always congenital idiots and never result from accidents after uterine life. They are, for the most part instances of degeneracy arising from tuberculosis in the parents. They have considerable power of imitation, even bordering on being mimics. They are humorous and a lively sense of the ridiculous often colours their mimicry. This faculty of imitation can be cultivated to a very great extent and a practical direction given to the results obtained. They are usually able to speak; the speech is thick and indistinct, but may be improved very greatly by a well directed scheme of tongue gymnastics. The co-ordinating faculty is abnormal, but not so defective that it cannot be strengthened. By systemic training, considerable manipulative power may be obtained.
— John Langdon Down, England, 1862
My testimony was to the effect that I had personally had contact of one sort or another with a considerable number of Down’s children over a period of years, that some of these children were mere “blobs.” They were incapable of doing anything, and I used that word. That others were . . . no more than moderately retarded, that this sounded benign enough until you realize what “moderate retardation” meant. It meant that these children, as they grew up, were unable to do the normal things that normal children can, that I made the statement in regard to this, that I had never known a Down’s child who was gainfully employed outside a sheltered workshop. I have had to revise that since I heard of one Down’s child, a young woman, who is washing dishes in a restaurant. That’s the sole one I have been able to encounter. I have never known a Down’s child able to live on its own. They require constant attention the rest of their lives.
— Dr. Walter Owens, United States, 1986
With their slightly slanting eyes, their little nose in a round face and their unfinished features, trisomic children are more child-like than other children. All children have short hands and short fingers; theirs are shorter. Their entire anatomy is more rounded, without any asperities or stiffness. Their ligaments, their muscles, are so supple that it adds a tender languor to their way of being. And this sweetness extends to their character: they are communicative and affectionate, they have a special charm which is easier to cherish than to describe. This is not to say that Trisomy 21 is a desirable condition. It is an implacable disease which deprives the child of that most precious gift handed down to us through genetic heredity: the full power of rational thought. This combination of a tragic chromosomic error and a naturally endearing nature, immediately shows what medicine is all about: hatred of disease and love of the diseased.
— Dr. Jerome Lejeune, France, 1990
Those three quotes you just read is how three separate physicians, all having a key role in how Down syndrome is perceived, described the same condition. You may be wondering why only now, at the mid-point of this book, am I going to actually talk about the condition of Down syndrome? The reason is that this tracks the common patient experience and how and when they are told about Down syndrome.
All expectant couples will be offered prenatal testing. They may ask what that testing is for and one of the conditions mentioned usually is Down syndrome—but little else will be said about what Down syndrome is. Those who choose to have prenatal testing and then receive a screen-positive result for Down syndrome will be counseled about the role of diagnostic testing to confirm the screen result, the physician may answer questions about Down syndrome, but, odds are, they will not receive any written information about Down syndrome. One of the authors of the 2007 ACOG guidelines later co-authored a study that surveyed obstetricians to find out if the guidelines had changed clinical practice. The study found that while 95% of OBs were offering some form of prenatal testing to all of their patients, only 29% were providing educational materials to their patients. Should the patient consent to diagnostic testing and have their screen result confirmed, then, they will absolutely be counseled about abortion, but still few will receive written information about Down syndrome.
So, it is only after going through prenatal testing, and being counseled about abortion, that patients will then be told about the condition that most had expected prenatal testing to provide reassurance that their child did not have. This chapter will seek to describe what Down syndrome is, its mental, physical, and behavioral effects, and what I’ve come to know about it.
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