The saying taught in medical school goes something like this: “If you hear the sound of hoof beats, think of horses, not zebras.” The idea behind this is to think of common causes to explain a patient’s illness and symptoms, not a rare disease or condition. The problem with this approach to teaching medicine is that we “zebras” fall through, not the cracks, but the gaping, deep crevasses of medical treatment. We are left misdiagnosed, under-diagnosed, and labeled as malingerers or worse. Read Maya Dusenberry’s book, Doing Harm, for more disturbing accounts of how this bias specifically affects females. So, people with rare diseases are sometimes referred to as “zebras”– a more rare breed of patient.
I now have the diagnosis of a rare disease. Because of some continuing, debilitating symptoms, my new endocrinologist recommended I do testing through 23andMe as a way to “get a lot of testing done at once.”(I am not specifically endorsing 23andMe, but I think they are currently the only genetic testing company that offers a health report). I resisted doing genetic testing because I didn’t want my DNA info “out there,” but I was tired of having an incomplete health picture. My 23andMe health report provided another piece of my health puzzle–an important one I think. The 23andMe health reported 2 variants for MCAD deficiency, a fatty oxidation disorder. It is rare– 1 out of 17,000 people in the U.S. have this condition. It is normally diagnosed in infancy, through neonatal screening; there has been routine screening for newborns for about the past 15 years in the U.S.. It may be a cause of SIDS. I was not diagnosed until I was in my mid-50s, but it explained symptoms I had in my youth and young adulthood. Before getting confirmation of my diagnosis through the Pediatric Metabolic Genetics Department at the University of Iowa, I was certain I had this condition just from reading the symptoms.
Very Well Health site states “People with MCADD usually need to adhere to a diet that is high in carbohydrates and low in fat. They also need to ensure they do not go long periods without eating (fasting).”
Before my diagnosis of MCAD deficiency, I was trying the popular “low carb” approach to try to get healthier and lose some weight and, instead, was feeling sicker and sicker. Another trend these days is intermittent fasting. I had a healthcare practitioner recently suggest I try intermittent fasting. I had to explain that this is contraindicated with my condition– it would be life-threatening in fact. This is a topic I’ll explore further–the harm that can be done with a one-size-fits-all approach to health care and wellness. I have found Christa Orrechio and her Whole Journey YouTube channel to have a helpful approach to eating. She understands that the body uses carbs for fuel and here she talks about healthy snacking: https://www.youtube.com/watch?v=9ZqNxR-GSKA&t=19s
Not just medical doctors, but all healthcare practitioners should follow the Hippocratic Oath and “first do no harm.” Also, know that, in that herd of horses, there will be a few zebras. So, if you hear hoof beats, please also think of zebras.
RESOURCES:
National Organization for Rare Diseases: NORD
Fatty Oxidation Disorders Support Group (FOD support group also on Facebook) https://www.facebook.com/groups/59945507904/
Above image by Ian Lindsay, Pixabay Stock Image
Top image by Cuyahoga, Pixabay Stock Image
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