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Hope for Down's Syndrome
by author Jacqui Fleury, ND

Down’s syndrome. It was once considered a disorder of genetic origin whose abnormalities are present at birth. Nothing could be done about it. Now, researchers and physicians are discovering that all damage is not present at birth. It actually can progress as the child grows–unless the molecular damage is halted. Thankfully, this is possible.

The disorder was first formally recognized in 1866 by English physician John Langdon Down, who published a description of its salient physical characteristics (folds around the eyes, flattened facial features, unusual palm creases, short stature and decreased muscular tone). It is now known that Down’s syndrome babies are also prone to heart and intestinal defects, vision and hearing problems, instability of the vertebrae, immune suppression, leukemia, hypothyroidism and Alzheimer’s.

For years it was unclear what caused the syndrome. Early theories included parental endocrine malfunctions and "uterine exhaustion," based on the observation that many children with the condition are the last-born members of a large family. Although more recent research links the condition to the increasing age of the mother rather than the number of children she has had, most children with Down’s are born to mothers younger than 30.

How Damage Happens

Normally, a sperm and an egg each contain 23 chromosomes and produce a fertilized egg with 46. An unequal division of cells during meiosis gives one cell an extra chromosome, which will produce a fertilized egg with 47. The extra one is chromosome 21.

Because chromosomes carry genes–each playing an important role in human development and disease–the presence of an extra chromosome means extra genes and an over-expression of their functions. Chromosome 21 genes produce too much of some enzymes and an over-usage of others, causing elevated levels of hydrogen peroxide and cellular damage. The peroxide combines with iron, producing free radicals, while depleting antioxidant selenium. Fewer antioxidants and more free radicals lead to cell death in the brain. Other enzyme problems are related to higher risks for vascular disease and mental retardation. Other gene defects cause physical abnormalities.

Some Solutions

Folic acid and B vitamins are important for would-be mothers: a recent study in the American Journal of Clinical Nutrition reports that folate metabolism is abnormal in mothers of children with DS. This can lead to a lack of DNA methylation and abnormal chromosomal segregation during meiosis. A deficiency in folic acid can lead to an increase in homocysteine levels, a risk factor for vascular problems commonly seen in DS patients. This imbalance can be corrected by supplementing with higher levels of folic acid, vitamin B₆ and B₁₂.

Other defiencies and allergies may also be involved. Upon diagnosis of DS, it’s important to perform thorough physical, nutritional and biochemical assessments. The sooner one corrects any imbalances, the greater the chance of preventing further molecular damage to the brain and the rest of the body.

Immediate treatment with nutrition, antioxidants, amino acids and hormones (if indicated) have shown remarkable improvements, not only in mental functioning but also in physical appearance.

Finally, exercises that challenge the brain and the body are vital to the proper growth of the child. Glenn Doman, founder of the Institute for the Achievement of Human Potential in Philadelphia, PA, claims the brain "grows by use." He says "function determines structure, [and] the child’s body grows by use or fails to grow as a product of disuse." The institute has helped many hundreds of brain-injured children to read with total understanding and to go on to accomplish tremendous feats in life, surpassing often bleak medical expectations.

What Down’s Markers to Look For

Down’s syndrome tests should include:

• Thyroid screen–Many patients have under-functioning thyroids due to injury at a molecular level or a zinc or selenium deficiency.
• Analysis of blood and urine levels of vitamins, minerals, antioxidants and fatty and amino acids–Can detect imbalances and correct defects in specific metabolic pathways.
• Biomarkers of oxidative stress-A recent study in the Journal of Orthomolecular Medicine found direct evidence for increased oxidative stress in DS individuals. Many DS problems, including autoimmune diseases, cataracts, Alzheimer-like changes in the brain and accelerated aging result from free radical damage to cells. One antioxidant is vitamin E, which seems to play a role in preventing DS Alzheimer’s dementia.
• Allergy evaluation/lactose tolerance–Good evidence connects food sensitivities to suppressed immune function and associated respiratory, middle ear and gastrointestinal infections as well as more debilitating autoimmune and thyroid disorders. One study found all DS subjects had elevated antibody counts to one or more of the foods tested, especially cow’s milk, peanuts and egg whites.
• Celiac evaluation–Various studies on the incidence of celiac disease and DS have found particularly high reactivity to wheat or its components, gluten and gliadin, and point to potential digestion or absorption problems with gluten-containing grains.
• Hair tissue mineral analysis–Can indicate elevated body burden, metabolic acidosis and malabsorption.


• Evaluation of pancreatic and gastric function.

Dr Fleury is a graduate of Bastyr University whose Calgary practice focuses on pediatrics and women’s health.

Source: alive #223, May 2001