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DOWN SYNDROME IS A NEURODEGENERATIVE, PROGRESSIVE DISEASE.
It is not normal and not a benign condition. Science recognizes it as one of the top four neurodegenerative diseases along with Alzheimer’s Disease, Multiple Sclerosis and Parkinson’s Disease.
The word “Syndrome” was attached to Trisomy 21 prior to the knowledge that it is not a fixed condition. Otherwise it likely would have been known as Downs Disease from the beginning. Syndrome, as it relates to DS, calls attention to facial characteristics, physical phenotype and mental retardation; similarities among people identifying that they share the same condition. It does not take into account the underlying cause of those similarities.
The word DISEASE has no hateful connotations and is not derogatory. There are numerous neurodegenerative conditions known to science as diseases, not at all unlike Down syndrome. For instance, DS has been identified as pre clinical Alzheimer’s disease. All untreated persons with DS will develop Alzheimer’s pathological changes in the brain prior to or by age 40.
The average life expectancy of people with DS is only 55 to 60 years. DS patients Indirectly die from this disease. It is the catalyst that takes twenty years or more off of their lives. Any condition that shortens life by a single day, is by definition – terminal. Let’s look at Huntington’s Disease.
“Huntington’s disease is an incurable, hereditary brain disorder. It is a devastating disease for which there is no currently “effective” treatment.
Nerve cells become damaged, causing various parts of the brain to deteriorate. The disease affects movement, behavior and cognition – the affected individuals’ abilities to walk, think, reason and talk are gradually eroded to such a point that they eventually become entirely reliant on other people for their care.”
https://www.medicalnewstoday.com/articles/159552.php
The onset of this disease can begin at any time but generally, the patient begins exhibiting evidence of neurodegeneration by age 35 to 40. Prior to onset, Huntington’s patients lead normal lives. In patients with Down syndrome neurodegeneration begins in the womb and progresses slowly. But, similar to Huntington’s, by age 35 to 40 DS progresses more rapidly and, like Huntington’s disease, this decline continues until the death of the patient. Government funding for research on Huntington’s disease is far greater than monies contributed for Down syndrome even though the population of patients with DS far out numbers those with Huntington’s. One reason for this discrepancy is the failure of the source of available funds to recognize Trisomy 21 as a neurodegenerative disease. “Syndrome” gives the impression of something static with little urgency. It does not portray an accurate definition of Trisomy 21. Our children deserve every consideration for research dollars as does Alzheimer’s disease, Parkinson’s disease, Huntington’s and every other tragic illness that robs a human being of function and ultimately, life.
Left to its own, children with Down syndrome will become progressively disabled. It is the rare patient who survives into their golden years mentally and physically intact. In fact, it’s so uncommon it usually makes the news. You never read a story lauding the fact that neuro typical Joe Blow lived to be 70! That is because Joe Blow SHOULD live to be 70. It isn’t unusual or newsworthy.
As young parents, it is difficult to understand that your cute little baby who is doing so well will one day begin to decline both cognitively and physically. But, as they age, you will be faced with decisions for their future. Generally, the future of a 35 or 40 year old individual with DS depends upon their level of function. However, the majority of untreated patients will ultimately need day to day care. This may involve the services of a home healthcare provider or a group or nursing home environment. This decision will come sooner or later. It is not a pleasant topic, but looking ahead to the future is part of raising a child with Down syndrome. Wouldn’t the best option be independence? Treated children should live well into their golden years without experiencing cognitive decline. Their options for the future are wide open. Why? Because twenty four years scientists looked at this and said “Down syndrome is a neurodegenerative disease and and it will respond to treatment”.
For some reason I do not comprehend, some parents find the word “disease” offensive. This is likely due to a misunderstanding of the meaning of the term. Not all diseases are contagious. In fact not one of the major causes of death, heart disease, cancers, neurodegenerative diseases are contagious. Despite vast amounts of research that correctly establishes the true nature of Trisomy 21 parents still waste their time and energy arguing over it. I’ve seen posts where parents have stated emphatically that their child with DS is perfect and does not have a disease. That attitude is not only a false sense of security, it is highly offensive to parents of children with childhood cancers and other life threatening illnesses. These children, despite their fragile health, are no less perfect to those who love them. Words are important.
Prior to the establishment of Trisomy 21 Research Foundation in the mid 1990s, the vast majority of Down syndrome research was geared towards the study of Alzheimer’s disease. Very little, if any, research was was being done towards understanding the biochemistry of DS with the goal of treatment or cure. Doesn’t the fact that Down syndrome is the model for Alzheimer’s disease in research tell you something? Why study DS to understand Alzheimer’s? Because DS is pre clinical Alzheimer’s disease. See http://trisomy21research.org/2017/03/23/tni-research/
Since the mid 1990s when Targeted Nutritional Intervention, (diet and food derivatives) made the news and was a world wide phenomenon, more and more research has been done with an eye towards correcting the neurological biochemistry of this disease. Science recognizes that this is not an incurable illness and vast amounts of available funding has been and is being expended to locate inhibitors of over expressed genes.
Don’t cuddle up to an extra chromosome. It isn’t a gift, it’s a serious problem. Children with Down syndrome are indeed very special, but not because they have an extra chromosome. I believe the Creator blessed our children with strength of character, courage and unconditional love to help them cope and rise above this disease. For that, I am forever grateful.
Most citations used are taken from the NLM data base and are in the public domain.