Friday, October 9, 2009

Another Medical Miracle Worker

Dr. Carol A. Osborn

Board Certified Family Physician Carol Osborn, M.D. specializes in managing and coordinating health issues and collaborative health and wellness for all ages. She graduated from Brown University with honors and earned her MD degree from the University of Cincinnati Medical School. Dr. Osborn completed her training in Family Practice as Chief Resident at the University of Utah Health Sciences Center where she received several awards for her teaching of both medical students and residents. In addition to her position as Associate Professor of Clinical Medicine at the University of Utah, Dr. Osborn practiced at the Madison Clinic where she served as the Medical Director for ten years.

In September 2007, Dr, Osborn received a Health Care Heroes award from Utah Business Magazine. She was selected for developing an innovative primary health care model, Evolutionary Health Care.

Why is she a hero to me? Dr. Osborn not only provided care during my high-risk pregnancy with Sean and delivered him safe & healthy, she also managed to diagnose his extreme developmental delays with the very first test she ordered! Perhaps the quickest diagnosis of Duchenne Muscular Dystrophy (DMD) in history....

Why does that qualify as heroic? Diagnostic delays are common in DMD. A new survey shows an average of 2.5 years elapse between symptom onset and diagnosis of DMD. Yikes! That's an average of 54 months tortured with the knowledge that something is wrong with your darling child but not knowing what is wrong or what to do about it. I believe knowing must be better than that. And, thanks to Dr. Osborn, I knew quickly.

A study that analyzed medical records has found that the average time between symptom onset and diagnosis of Duchenne muscular dystrophy (DMD) is 2.5 years, an interval that hasn't changed in two decades. This delay in identification postpones treatment that can slow the progression of the disease and results in lost opportunities for genetic counseling of parents.

The researchers say pediatricians and other providers of primary care could speed up the diagnostic process considerably by checking blood levels of creatine kinase (CK) early in the evaluation of boys with developmental delays. CK is an enzyme that leaks out of damaged muscle tissue, and the serum CK level is elevated 50 to 200 times above normal in children with DMD, most of whom are boys. A serum CK level is considered a good screening test for DMD, although DNA testing is required to confirm the diagnosis.

The initial screen, a blood test for creatine kinase, is widely available and inexpensive. In the past, one might have argued that little is gained by making an earlier diagnosis of an 'incurable' disease. Today, effective treatments are available that can temporarily preserve motor function and prolong survival. There is therefore newfound urgency in making a correct diagnosis that will become more pressing as novel treatments enter clinical trials.

MDA considers earlier diagnosis of DMD to be of paramount importance, because it provides parents with accurate information with which to make reproductive decisions, and because evidence suggests that the benefits of treatments now in development will be maximized if they're started as early in childhood as possible.

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