Ten Steps to Improve Your Genetic Health

The idea for this book, which is yet to be published, began as a series of suggestions for the parents of children with newly diagnosed genetic conditions: birth defects, autism, mental retardation, chromosome rearrangements, rare syndromes with obscure and terrifying names. In 2004, while on a yearlong deployment at Camp Taji, Iraq, I was, for the first time in 20 years, not taking care of children and adults with genetic conditions on a daily basis, and my job as a Battalion Surgeon offered me a chance for a fresh perspective. Like many other soldiers at war, I found myself very busy but, ironically, with time to think. Naturally, my thoughts turned to my patients back home and how they and their families struggled, day in and day out, and how similar our situations seemed. Both they and I were engaged in a serious struggle with a formidable adversary, and the outcomes were hard to see. Despair would be an easy option. We both felt some fear, worried that powerful and impersonal forces were in control of our lives. We were hungry for solace, for hope, and for a reason to place our trust in a larger system that might someday rescue us. For me the solution was much easier. Assigned to the 27th Main Support Battalion of the 1st Cavalry Division, I had both an exit plan and a survival strategy. I knew that after 365 days the US Army would send a plane to return me to San Antonio. No such option for my patients with Branchio-Oculo-Facial Syndrome and the like – except in terms of future research to find a “cure,” which, conceptually, seems almost beyond the realm of possibility for many, if not most, genetic diseases. But I also had a survival strategy: steps to take, principles to grasp, attitudes to adopt, tricks of the trade that could keep me alive and help me do my job and get me on that plane home. Couldn’t some similar survival strategy work for my patients?

Yes, of course. In fact, elements of this strategy had been part of my practice and the practices of other clinical geneticists and genetic counselors for many decades. What was needed, though, was to bring them together into an integrated collection of good ideas that could be read, kept as a reference, full of first principles and basic steps, as well as a frank and unblinking view of the big picture.

“10 Steps for Improving Your Genetic Health” is not just for families with rare genetic syndromes. In the past several decades – since we began to systematically unravel the genetic code of the human genome – there has been an explosion of research. We now have effective, useful genetic tests for many of our most common ailments: breast cancer, colon cancer, heart disease, kidney disease. We are beginning to see the connections between our genes and how well our medicines work – or how cruelly they can harm us. More and more of the rarest of the rare diseases are more precisely diagnosed and understood because we have discovered how mutations in DNA or miniscule rearrangements of a chromosome cause changes in our bodies and our minds. Medical science has progressed to the point that one would be hard pressed indeed to select any ailment, disease, condition, affliction, perturbation, ache, pain, or peccadillo that is not, to some degree, large or small, genetic. Every state of health – from best to worst – must, by its very nature, be a consequence of one’s genes. Therefore, please consider this book a reference guide for anyone in any state of health.

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