Prior to the early 1990′s the medical opinion about Trisomy 21 was that nothing could be done about it. Since it was genetic, and “you can’t change the chromosomes in every cell in the body” parents were supposed to accept that there was no treatment for their children. “Take him home and love him,” was common advice for the new parent.
That opinion began to change with the advent of better science, and better understanding of what that extra 21st chromosome actually does. The old opinions of “nothing can be done” have begun to die away. The new hope is based on the understanding that DS is progressive and treatable… and if treated effectively soon enough, that the progression can be slowed and (maybe, one day) stopped.
Here is Dixie arguing that Down Syndrome is not a static condition but it is a disease and should be given the medical attention to slow or stop that progression.
Down Syndrome is a Disease
by Dixie
1. Down syndrome is caused by triplication of chromosome 21 or the critical region thereof but not by simply the trisomy. The phenotypic manifestations of Down Syndrome are directly related to over-expressed genes … genes that produce too much of what they normally would if the child had only two 21st chromosomes. Congenital malformations – fixed conditions – do not progress (like having an extra limb, for instance). Nor do simple congenital malformations alter metabolism or interfere with human biochemistry. Down Syndrome does.
2. It is widely recognized that patients with Down Syndrome suffer from a myriad of symptoms associated with “disease” such as decreased immune response.
3. No one disputes that Down Syndrome promotes rapid cell aging. Life expectancy for Down Syndrome patients is less than for non-Down Syndrome patients by a fairly wide margin (usually under 50 years as opposed to over 70 years for individuals without Down Syndrome). Congenital malformations or fixed conditions (extra limb, etc.) does not produce this type of effect; only progressive disease does.
4. It is widely known and accepted that patients with Down Syndrome at birth have brain mass within normal ranges. However, within the first year of life, brain mass diminishes as compared to normal controls. This is clear evidence of progression, something that does not happen in a fixed condition.
5. It is well accepted that patients with Down Syndrome suffer from advanced apoptosis (genetically programmed cell suicide). This has been shown to be directly related to the over-expression of Super Oxide Dismutase – (SOD, an enzyme encoded on Chromosome 21). It is well known that SOD is over-expressed in many cells in Down Syndrome although not all cells. The result of an over-expression of SOD is failure of the body to properly manage hydrogen peroxide. This in turn destroys cellular membrane which can lead to DNA mutation and destruction and cell death. This is a “disease” process.
6. If Down Syndrome were a “fixed” condition none of the genes on Chromosome 21 would have to be “active” to produce the manifestations of the syndrome; an extra chromosome with inactive genes would produce the same effect. However, there are many, many cases where a child has manifestations of Down Syndrome but not a complete extra chromosome, just the critical region involved in Down Syndrome (translocations, partial trisomies, tetrasomies). One particular case is quite interesting. The child has full facial manifestations of Down Syndrome, simian creases, mental retardation (no hypotonia or joint laxicity) but does not have any part of an extra chromosome. He simply has one extra copy of the Super Oxide Dismutase (SOD) gene encoded on his otherwise normal 21st chromosome. The gene is “active”; the activity of the gene produces the phenotypic characteristics. There are also cases of patients with portions of Chromosome 21 without the “critical” region (partial trisomies – translocations of the p portion rather than q portion of the chromosome) who do not have Down Syndrome.
7. There are hundreds of diseases directly related to excess or failed enzyme activity. Cystic fibrosis, adrenoleukodystrophy, muscular dystrophy, etc. No one questions that these are diseases. Down Syndrome is directly related to excess enzyme activity (many of the genes over-expressed encode for enzymes). Why doubt that Down Syndrome is also a disease when a) excess enzyme activity produces certain difficulties and b) no one denies that other diseases produced by the identical mechanism (excess enzyme activity) are indeed “diseases.”
8. Fixed conditions cannot be made better (except for surgical procedures, etc.); we can see a cessation of symptoms in patients with Down Syndrome when using TNI and related therapies. This is a reversal of the disease process that could not occur if: a) Down syndrome was not a disease or b) if it was simply a fixed condition.
9. There are many illnesses and diseases that are directly related to genetic defects that do not fully manifest themselves for many, many years. Adrenoleukodystrophy (Lorenzo’s disease) does not manifest itself as a disease until the patient is between five and ten years of age even though the gene mutation was present at conception. Huntington’s Disease does not manifest until the fourth or fifth decade. Just because a disease may not progress rapidly, that does not mean it is not a disease. No one questions that Huntington’s Disease is a fatal disease even though patients are symptom-free until 40 or 50 years of age, at which time the disease progresses rapidly to disability and death. What is the real difference between such a disease that claims the life of its victims at or about the same age Down Syndrome claims the lives of its victims?
Yet parents are told Down Syndrome is not a disease because it only “shortens” the life of the patient. First of all, it not only shortens their lives, it lessens the quality of their lives. Second, although Huntington’s Disease is more aggressive, it also only “shortens” the lives of its victims (by about the same period of time) and no one questions that it is a progressive disease.
10. There are tissue changes observable in untreated patients with Down Syndrome. Super Oxide Dismutase (SOD) builds up in the tongue; the structure of the lip muscle and gums change over time; body fat distribution is altered as the children age … all of which are associated in those without Down Syndrome who have disease.
Originally posted on down-syn@listserv.nodak.edu by Dixie Lawrence back in the mid 1990′s
