Capucine's Quest:
A Medical Student Campaign for the Study of Mitochondrial Diseases

Baby Capucine asks medical students to write a substantial article in a professional medical student journal. This article would aim to attract students into the field of mitochondrial medicine and research, discuss current mitochondrial medicine challenges, and propose actions among the medical and scientific communities to promote awareness of these diseases.

And just what are mitochondrial diseases?
They include an array of genetic metabolic diseases wherein the body does not properly process food into energy. Physicians may frequently misdiagnose it as, for example, Cerebral Palsy; SIDS; Epilepsy; unexplained low muscle tone or seizures; unexplained GI, heart, liver and/or kidney difficulties; depression; chronic fatigue syndrome; Multiple Sclerosis; or other disorders, including psychiatric. These misdiagnoses can compromise the lives and quality of the lives of the affected patient.

Once thought to be rare, researchers and the medical community now realize that this tricky disease is more prevalent than childhood cancer. Interestingly, we now believe that defects in mitochondrial function are linked to many common diseases, including Parkinson’s, Alzheimer’s, Diabetes, and Heart Disease. However, most of the medical community remains uneducated about it since medical schools rarely cover such a disorder. Indeed, few general medical textbooks or journals delve into such complexities. Now, partially thanks to the United Mitochondrial Disease Foundation (www.umdf.org) and a variety of dedicated specialists and researchers throughout the world, this disorder can be more easily identified.

According to the UMDF, “the range of symptoms is diverse. Symptoms may present unexpectedly at any age or they may be evident from birth or infancy. The presentation of symptoms depends upon which organs or systems are most affected by the malfunctioning mitochondria. Symptoms may include [one or more of the following]: poor growth, loss of motor control, muscle weakness, gastro-intestinal disorders, reflux, and swallowing difficulties, cardiac disease, liver disease, diabetes, respiratory complications, visual and/or hearing problems, susceptibility to infection, developmental delays, learning disabilities or retardation, seizures, lactic acidosis.” The UMDF highlights that “mitochondrial diseases should be considered in any patient with unexplained multi-system involvement with a progressive course.”

In order to diagnose correctly, one must be referred to a metabolic/mitochondrial specialist or research center since much of the testing is not done in the traditional medical setting. Some of the major research centers that deal specifically with mitochondrial disease include (among many other excellent centers) the University of California, San Diego, CA; the Cleveland Clinic Foundation, Cleveland, OH, Children’s Healthcare of Atlanta, GA; Children’s Hospital, Denver, CO; Children’s Hospital of Philadelphia, PA; Columbia University, NY, NY; Toronto’s Hospital for Sick Children, Canada; the University of Newcastle, England; and the Hôpital des Enfants Malades-Necker, Paris.

It is crucial to promote awareness of this newly-discovered energy disease. Since the medical community remains largely unaware of it, the majority of mitochondrial disorders have no assigned code numbers in the International Codification of Diseases. This situation provokes a lack of significant statistics. And yet, organizations like the National Institutes of Health and the World Health Organization depend upon these statistics in order to allocate more financing of research for cures, clinical trials, disability and public awareness programs. Medical schools take such information into consideration when implementing the curriculum. Furthermore, health insurance companies analyze these statistics so that benefits cover appropriate testing, medication and medical visits.

Other Places to go:

Mitochondrial Medicine Society (MMS)
Mitochondrial Interest Group - MigDB
Mitochondrial Research Society (MRS)

Email: S and V Zelenko Family

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Compliments of Parent to Parent of New Hampshire