The important take away points from Part One include the following:
The autosomal recessive inheritance pattern of metabolic disorders does prove problematic for prevention. Most parents are unaware they are carriers of specific genetic mutations, and the likelihood of having a child with a partner carrying the same mutation is exceedingly rare, too rare for prenatal genetic screening of all babies to be necessary or feasible.
In reality, the genetic mutation would have occurred many generations ago and has been passed on through families, often undetected. Additionally, there are literally hundreds of metabolic disorders, and all require their own unique treatment approach. There is no blanket clinical protocol for treatment.
If a metabolic disorder is inherited, treatment options usually follow this clinical pattern:
Discoveries in the field of Nutrigenomics (how nutrition impacts on gene expression) and epigenetics (how lifestyle measures such as exercise, sleep, and relationships impact gene expression) offer hope for future treatment and prevention. Emerging research indicates that there are ways of eating and living life that protect DNA and enhance the correct replication of DNA (preventing further mutations and even providing the healthiest genome possible to your future offspring). While they may not prevent 100% of metabolic disorders in affected families, there are diet and lifestyle measures that safeguard the general health of all individuals and support healthy genes, from their replication through to gene expression. Additionally, well-functioning organs and tissues (from healthy eating and living) will enhance conventional treatments for metabolic disorders.
Children and adults with metabolic disorders will require lifelong care and can often become ill very quickly. It is essential that they receive care from both their medical specialists and ideally an integrative doctor with their allied health teams.
The MINDD Foundation is an excellent resource for locating doctors, nutritionists, naturopaths, pharmacists, dieticians and nurses experienced in the treatment of these rare and high-care diseases. See our Directory to find an integrative health practitioner near you.