The Treatment Conundrum

 Practitioners of dietetics and nutrition medicine are currently faced with a philosophical puzzle, resulting from the question “When is a rare disease not so rare?”  In an attempt to discern when rare inborn errors of metabolism can no longer be categorized as such, transitioning into common functional disorders, practitioners are investigating the spectrum on which metabolic disorders fall.

Metabolic disorders, considered rare diseases, are traditionally treated with pharmacologic approaches.  These treatments are necessary to reactivate or replace missing enzymes or metabolic pathways.  However, practitioners are now aware that these metabolic disorders don’t always exist as ‘all-or-nothing’ diseases.  More often, less severe forms of metabolic disorders result in impaired function and can be addressed through medical nutrition therapy by removing offending foods or nutrients, adding supplemental foods, or supplementing with vitamins or minerals.

The identification of the severity of a disease is now a necessary component to identifying an appropriate treatment.  Just disease states lie on a continuum, so do treatment options, ranging from pharmacological methods to medical nutrition therapy, each one unique for the individual.  Evidently, the old adage “no two snowflakes are alike” does not only apply to precipitation!

Bland, J. (2016). When Is a Rare Disease Not so Rare? Implications for Medical Nutrition Therapy. Integrative Medicine: A Clinician's Journal, 15(1), 14-16.

LH