LESSON 2-What is Down Syndrome
by Dixie Lawrence | Aug 18, 2018
Most citations used are taken from the NLM database and are in the public domain.
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APRIL 10 2018 - LESSON TWO. Please read both the text and linked studies and watch the video. Once you have finished, please type "watched and read" under comments.
WHAT IS DOWN SYNDROME?
Every parent of a child with Down syndrome knows their child was born with an additional 21st chromosome, but what does that mean? It means that the physical differences that are visible on the surface are just the tip of the iceberg. Call it G-d (my preference) or nature, human beings are designed to function with 46 chromosomes and the compliment of genes located on those chromosomes. The human brain and body is not equipped to deal with excess genes. Most of the genes on the extra chromosome are silent. They do not function. If they did, this condition would be far worse than it is and far more difficult to treat. The damage results from a small section called the Down Syndrome Critical Region (DSCR) This region is mapped to a "P" leg of chromosome 21. The genes on this region are active.
Most genes provide the recipe for proteins. There are five microRNAs also mapped to the C21 critical region. These genes do not encode for proteins and they will be covered in a later lesson.
Down syndrome is not a fixed condition, like being born with an extra limb. Your child has an extra chromosome but is is the active genes fixed to the chromosome that results in the neurodegenerative nature of Down syndrome. These proteins interfere with how neurons are created, how neuro transmitters function, how chemical signals are sent and received. They block memory and learning and damage the structure of the brain.
Let's look at just one over expressed gene and the damage that results from it. SOD1 is an Enzyme mapped to the DSCR. It is over expressed, there is at least 51% more SOD1 in areas of the brain in Down syndrome. This results in the production of oxidative stress. But, it is not the only cause of oxidation in DS. The following video demonstrates the creation of free radicals and how they damage cells. Every single thing pointed to as a cause for cellular damage, with the single exception of radiation, is present in untreated Down syndrome. Think about that, every single cause and this is the result of a single over expressed gene. Please watch the following video before you continue.
Regardless of what you may have heard before, being born with extra genetic material is not benign. 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.
At birth, our babies often seem very "normal". Although there are a few structural variations of the brain, our babies seem normal because at the beginning of life, they are far more "normal" than not. Within the first six months to one year of life, the difference between a baby with DS and one without becomes far more noticeable. But, regardless of how Down syndrome effects the brain, it is inappropriate early in life to label the children as intellectually delayed. Studies show that the variations in intellectual disability becomes more pronounced over time.
Before you continue, please read the following studies.
Complexity of neuro degenerative disease in DS
Changes in the DS Brain
https://www.sciencedirect.com/science/article/pii/S0079612308642971
Birth and infancy.
Children with DS are virtually normal until 4 months of age.
Myelin in the DS postnatal brain.
Changes in the brain as children approach puberty.
Neuropathology of AD in DS
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4948181/#!po=16.6667
Cognitive decline
Neuro imaging and brain aging in DS
Is it appropriate to think of Trisomy 21 as a benign "syndrome "? Or is it actually a treatable neurodegenerative disease?
Parents often become offended when the word disease is used in connection with their children. However, we should demand that it be recognized for what it truly is. 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 untreated people with DS is only 55 to 60 years. Untreated 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.
The onset of Huntington's 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 untreated 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 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 itself, 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's 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 nursing home environment. I do not include "group homes" here as group home life is rarely due to the failure of function but is an acceptable option for an adult with DS who wants a more independent life. Unfortunately, as this disease progresses, most will ultimately be removed from group homes and moved to facilities where greater medical care is provided. 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?
With benefit of a well designed diet consisting of foods and derivatives, children with Down syndrome could live well into their golden years and maintain cognitive function. Their options for the future are wider.
Being offended by the word "disease" 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.
Since the mid 1990s when Targeted Nutritional Intervention, the introduction of a targeted foods and/or food derivatives made the news and was a world wide phenomenon, more and more research has been done with an eye towards understanding the impact of nutrition on the neurological biochemistry of this disease. Take comfort that ALL fields of Science recognize that this is not an incurable illness. Vast amounts of available funding have been and are being expended to locate inhibitors of over expressed genes. We now know that this is absolutely possible.
Foods and their derivatives already exist in nature and have been successfully studied and proven to target and down regulate many of the genes that destroy the brain in Down syndrome.
The time to begin to focus your attention on your child's future is now.
Children with Down syndrome are indeed very special, but not because they have an extra chromosome. The additional chromosome results in all of the negative aspects of Down syndrome. It isn't a chromosome that makes our children so amazing. 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.
THE FDA PROHIBITS EVEN INDIVIDUALS FROM MAKING MEDICAL CLAIMS FOR NUTRITIONAL SUPPLEMENTS. MENTION OF NUTRIONAL SUPPLEMENTS IS PROVIDED BASED ONLY ON THE ATTACHED RESEARCH TO EXPLAIN HOW THE HUMAN GENOME RESPONDS TO FOOD SUBSTANCES AND IS NOT INTENDED AS MEDICAL OR CURATIVE ADVICE.