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Why Mitochondrial Disease Looks Nothing Like Medical Child Abuse

As media coverage of the Justina Pelletier case has grown, so has the misconception that mitochondrial disease is closely correlated with medical child abuse and its predecessor diagnosis, Munchausen’s Syndrome by Proxy. On behalf of MitoAction and the mitochondrial disease patients we represent, we are extremely troubled by this development and wish to highlight the obvious differences between mitochondrial disease and medical child abuse.

The plight of Justina Pelletier has riveted the rare disease community for the past fourteen months.  Justina, a fifteen-year old Connecticut girl, was placed in the custody of the Massachusetts Department of Children and Families following a diagnostic dispute between doctors at Boston Children’s Hospital and her treating physicians at Tufts University.  Justina’s parents were accused of medical child abuse for “overmedicalizing their child” through surgical procedures designed to improve her quality of life.  The Pelletiers ultimately lost custody of Justina after physicians at Boston Children’s asserted an alternative explanation for her symptoms, which previously had been diagnosed and successfully treated as mitochondrial disease at Tufts.

Mitochondrial disease is not easily confused with medical child abuse.  It is a devastating, multi-system disease that frequently results in death.  Patients suffer from a wide variety of symptoms depending on which part of the body has been affected by the disease, which is due to problems with the powerhouses of the cells.  Mitochondrial disease also can be degenerative and progressive, especially when high-dose vitamin treatments and other medications are withheld.  In contrast, children who are victims of medical child abuse generally get better when separated from their families.  

Before her most recent hospitalization, Justina was ice skating, going to school and living a relatively normal life.  After fourteen months in the care of the Massachusetts Department of Children and Families, Justina is confined to a wheelchair, is in constant pain, has lost much of her hair and has had a significant resurgence of symptoms.  In fact, Justina’s condition has deteriorated so much that Boston Children’s had to start using Justina’s abdominal port again, and the judge ultimately returned her medical care to Tufts.  As of this past week, Dr. Mark Korson of Tufts is once again treating Justina for symptoms of mitochondrial disease. 

Mitochondrial disease is relatively rare, and several media reports have cited an older statistic that places the prevalence rate at 1 in 8,000.  More recent literature shows that the prevalence rate of mitochondrial disease is actually much more frequent at 1 in 4,000,  http://www.med.unc.edu/neurology/files/documents/child-teaching-pdf/Mitochondrial%20Review%20DiMaro%2005.pdf, and some physicians assert that mitochondrial disease is as common as 1 in 2,000.  

In contrast, medical child abuse and its predecessor diagnosis, Munchausen’s Syndrome by Proxy, are exceptionally rare.  One study published in the medical literature showed an incidence rate for Munchausen Syndrome by Proxy for children under 16 years of age of 2 per 100,000 in New Zealand.  http://www.ncbi.nlm.nih.gov/pubmed/11468037.  The authors of this study further noted that this incidence rate was “higher than that reported from other countries.”  Another study performed in the U.K. and Ireland showed an incidence rate of 0.5 per 100,000.  http://www.ncbi.nlm.nih.gov/pubmed?term=8813872.  Thus, an ailing child is at least 50 to 200 times more likely to have mitochondrial disease than to be suffering from medical child abuse at the hands of his or her parents.  The speculative linking of mitochondrial disease with Munchausen Syndrome by Proxy is not only false but also is both disingenuous and disrespectful to mitochondrial disease patients who suffer from a dreadful and often fatal disease.

Mitochondrial disease affects multiple bodily systems at once, and therefore can be confusing to doctors who are accustomed to a medical system that compartmentalizes the body into discrete systems. It also is a good diagnosis to consider when symptoms do not fit a clear diagnostic picture, which is why mitochondrial disease is tested so often in cases that ultimately were the result of medical child abuse.  However, once a family has a diagnosis of mitochondrial disease from a reputable physician, has documentation of other family members suffering from the disease, and has received successful treatment for mitochondrial disease, it is the duty of the hospital caring for the patient to obtain a complete history and speak with the treating physician who is familiar with the case.  Had Boston Children’s taken that simple step, the course of the past fourteen months likely would have been much different for the Pelletier family.   

The fact remains that physician hubris combined with a low tolerance for assertive parents led to the result in the Justina Pelletier case.  Until hospitals, patients and caregivers can find a better way to communicate about the health of a child and can tolerate differences in opinion with more resilience, parents of children with rare diseases will continue to run the risk of medical child abuse accusations.

About The Speaker: 

Christine CoxChristine S. Cox, Esq. is the Director of Outreach and Advocacy for MitoAction.  Christine has a child with a mitochondrial disorder and first discovered MitoAction three years ago.  She has been working with Cristy Balcells and others to establish the MitoAction Advocacy Task Force, and also volunteered at the MitoAction Clinical Conference in Los Angeles in February 2014. Christine has practiced law in Atlanta, GA, for the past 10 years. Since 2010, she has been working on legislation in the Georgia General Assembly that would mandate coverage of medical foods (formulas used for metabolic and GI disorders) by private health insurance companies. This bill is very similar to House Bill 977, the legislation MitoAction has been working on to obtain insurance coverage for the Mito Cocktail in Massachusetts. Having seen firsthand the beneficial impact that MitoAction's work can have on both a family and an entire community of mitochondrial disease patients, Christine is very excited to be a part of this organization.

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