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Mitochondrial Diseases and Hyperbaric Medicine

This week I sat down with experts in the fields of mitochondrial diseases and hyperbaric medicine.  Each cell in our body has an “engine” where the nutrition we consume through eating is converted to the energy we need to function and survive.  These engines are known as “Mitochondria”.  These cellular components use genetic code to function and on occasion there will be problems with the genetic code or with how it is decoded.  In these cases, a variety of health problems can reveal themselves, depending on what sort of tissue is made up by these cells in question.  These can range from challenges with learning, developmental problems, or disease states such as Alzheimer’s, Parkinson’s, Muscular Dystrophy, and others.  Dr. John Shoffner, neurologist and geneticist of Medical Neurogenetics came by with Laura Stanley of the Foundation for Mitochondrial Medicine.

We talked about the research Dr. Shoffner is doing in an effort to find medical therapies that could help patients who are dealing with the variety of disorders caused by mitochondrial dysfunction.  We talked about how challenging it can be to identify a health problem(s) that are caused by mitochondrial disease unless a patient’s family is fortunate enough to be seen by a physician familiar with the genetic tests that can be utilized to diagnose them.

As described by the Foundation for Mitochondrial Medicine, “Every aspect of our beings – seeing, breathing, thinking, moving – requires energy. Mitochondria, often called the cells’ “powerhouses,” supply that energy by turning raw materials found in the food we eat and in the air we breathe into a substance called ATP (adenosine triphosphate), which our cells can use as fuel. ATP is, quite simply, vital to life.  Without enough ATP, children cannot appropriately develop, grow, learn, move, or even sleep. Adults without enough ATP are unable to sustain brain, muscle, and other vital organ function. A deficit of ATP can also cause invisible damage in some disease states, leading to early failure or dysfunction of organs, or just a chronic state of inefficiency leading to pain, fatigue, changes or limitations in thinking and learning, and increased susceptibility to acquired diseases.”

Laura and Dr. Shoffner shared how they are working to improve awareness of mitochondrial diseases and through research, uncover treatments to halt or at  least slow the effects of these diseases.  The ultimate goal is to find a way to prevent or reverse these problems.

Dr. Helen Gelly joined us to talk about a recent article she co-authored with Dr. Caroline Fife in Today’s Wound Clinic, called, “Hyperbaric Oxygen Therapy in Wound Care: A Service Under True Pressure“.  In the article, Dr. Gelly and Dr. Fife talked about how numerous Medicare Administrative Contractors and Commercial insurers are making changes to indications they are willing to reimburse hyperbaric oxygen therapy for.  That means that patients with wounds that place them at risk for amputation or for degraded quality of life due to previous radiation therapy may not be able to receive this evidence-based, effective treatment.  We talked about how in some cases where the providers in a given MAC were asked for clinical documentation of their HBO treatments provided, as many as 30% failed to respond.  Dr. Gelly shared how this lack of response leads to suspicions of fraud.

It was clear from the Today’s Wound Clinic article and from our conversation that hyperbaric medicine specialists must begin to activate and collaborate to protect this evidence-proven treatment modality.  HBO providers need to not only be responsive to requests for data but ACTIVE as it relates to advocating on behalf of educated decisions being made as it relates to the availability of the modality for tomorrow’s patients in need.

Special Guests:

Dr. John Shoffer, MD, CEO of  Medical Neurogenics 

• Former Associate professor of neurology and molecular medicine at Emory University
• Former Director of the molecular diagnostics program at Children’s Healthcare of Atlanta
• Discovered some of the first gene mutations causing mitochondrial diseases and one of the first genes causing epilepsy
• Finalist, 2012 Atlanta Business Chronicle’s Health-Care Heroes Awards

Laura Stanley, of Foundation for Mitochondrial Medicine       

• IMBA, University of South Carolina Darla Moore School of Business
• Former Senior Associate, Korn Ferry
• Former Vice President, EzGov
• Parent of a child with mitochondrial disease

Dr. Helen Gelly, MD of HyperbaRXs       

• Doctor of Medicine, Emory University School of Medicine
• Internship/Residency: Pediatrics/Emergency Medicine at Emory University Affiliated Hospitals
• Board Certified in Emergency Medicine
• Fellow of the American College of Emergency Physicians
• Fellow of the American College of Certified Wound Specialists
• Subspecialty Certified Undersea and Hyperbaric Medicine