The completion of the Human Genome project in 2003 opened up research into the underlying cause of many genetic conditions, including Down syndrome. The over-expression of genes for the enzymes SOD, CBS and DRYK1A are all linked to the phenotype (symptoms) of Down syndrome. There has been a recent explosion of research in the area of understanding the cognitive delays that often accompany Down syndrome. A large collection of research occured before this recent explosion to uncover vitamin and amino acid deficiencies, defects in the methylation cycle and causes of oxidative stress, to name a few. The underlying causes of the Down syndrome phenotype are recognized by many well-known and respected researchers, but not by the very doctors that see these patients on a daily basis.
Some parents of children with Down syndrome choose to give their children supplements like a multivitamin, fish oil and green tea extract, among others. Many parents who give their children supplements do so, not with the goal of improved cognition, but to help their children be healthier.
There is a growing online community of parents of children with Down syndrome who have expressed their frustration with doctors who dismiss their concerns for their child's symptoms. Many doctors excuse these concerns as "just Down syndrome". These parents seek help from one another to better understand their child's own health when doctors can't. There are only a handful of doctors who have the knowledge and training to help guide these parents through the vast amount of information available on supplements that have been researched and shown to be helpful.
In addition, the symptoms of Down syndrome are identical to that of congenital hypothyroidism. The type of hypothyroidism experienced by many children and adults with Down syndrome is not detected by a TSH or T4 lab test. Cellular hypothyroidism is the term that has been used to describe what people with Down syndrome experience. The symptoms of this type of hypothyroidism are the same as hypothyroidism caused by a defect in the thyroid gland itself. The conversion of T4 to the active thyroid hormone T3 is imperative to the function of all cells. A second version of T3 exists that is called reverse T3. It is a stereoisomer, a mirror image, of active T3 and is inactive within the cell.
Physiologic processes that contribute to an elevated reverse T3 are low iron, low or high cortisol levels, inflammation and oxidative stress. People with Down syndrome experience all of these processes. Active thyroid hormone is essential for the functioning of literally every cell of the body. Without it people experience slow gut motility, slow growth, delayed cognition and many other symptoms that are so common to people with Down syndrome.
We simply ask that doctors start reading the large body of research that exists to help understand the underlying causes for the health issues commonly experienced by children with Down syndrome and open up to the possibility that the health of a child with Down syndrome can be greatly impacted by diet, lifestyle, supplements and proper thyroid treatment.