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Understanding mito

A family walks into the world-renowned Boston Children’s Hospital, hoping to find a successful course of treatment for their acutely ill child. Thousands of families carry the same hopes through those same doors every day. But, this time, the family, which drove more than 100 miles to see a specialist about their 15-year-old’s chronic digestive troubles, was stonewalled and ultimately accused of abuse.

Although the teen was being treated by a respected doctor at a Boston teaching hospital and her sister struggles with the same genetic problem, the parents were charged with medical child abuse for over-medicating and over-treating the girl’s symptoms. Stripped of custody, the Massachusetts Department of Children and Families admitted the severely ill child to the hospital’s psychiatric ward for 10 months. Since then, her health has only worsened, and her visits with family have been controlled and limited by the state.

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This nightmare is the real-life experience of the Pelletiers of Hartford, Conn., whose 15-year old daughter, Justina, was diagnosed by a leading expert with mitochondrial disease. On Jan. 10, the fate of her custody will be decided in a Boston juvenile court.

Unfortunately, this case is not uncommon; rather news of such conflict between parents and major medical institutions go mostly untold. MitoAction, a nonprofit working to improve the lives of mitochondrial disease patients and families through education, support, and advocacy, receives several phone calls a month from desperate parents across the country who say they are being investigated for, or charged with, medical child abuse.

What is it about mitochondrial disease, or “mito,” that is having this effect? Chronic complex diseases continue to baffle the medical community despite an increase in diagnoses of rare disorders such as mito, autism, PANDAS, and others. It’s easy to blame the patient or family when traditional approaches fail. An ongoing national survey of thousands of mito families proves that this is not a singular problem. Over 100 parents report having been accused of making up their child’s symptoms, seeking unnecessary treatment, or abusing their children by “over-medicalizing” their condition.

Understanding the waywardness of mitochondrial disease is key. It is an invisible invader. Symptoms include: poor growth, loss of muscle coordination, muscle weakness and pain, seizures, vision and hearing loss, gastrointestinal issues, learning disabilities, and heart, liver, and kidney failure. One day symptoms can be mild with patients seeming “normal.” The next day they may be severe, incapacitating the patient. The cellular misfiring undermines one system and then another. The erratic appearance of symptoms leads some medical professionals to assume the parents instigate their child’s ill health. Moreover, diagnosis is difficult, expensive and requires the finesse of an expert geneticist or metabolic specialist. In Justina’s case, Children’s doctors questioned her diagnosis, her symptoms, and her psychological well-being. What was a medical condition then mushroomed into a legal battle.

At MitoAction, we believe education will bridge the gap between patients and the institutions and agencies that serve them. MitoAction has developed a task force of medical and legal professionals committed to learning more about the disease and preparing themselves to treat and advocate for patients.

Doctors and nurses from around the country will attend MitoAction’s conference on Feb. 8 in Los Angeles to deepen their understanding of the disease. Internationally, physicians and researchers agree that 1:2000 people will develop mitochondrial disease. While today there is no cure, there is a growing body of research supporting clinical trials and drugs to treat the disease. Support and education are critical at this stage. Having more mito-informed medical staff in the community will be a game-changer.

We foresee a day when these mito-educated case managers will work as liaisons between family and doctor to document and assist in the child’s care so parents are not left managing many aspects without assistance.

As a society, we cannot be short-sighted about the small cost of such moderate interventions given the horrifying cost to a child caught in the midst of such a nightmare.

Cristy Balcells is executive director of MitoAction — Mitochondrial Disease Action Committee — of Boston and author of “Living Well with Mitochondrial Disease.” She is also a nurse and parent of a daughter with the disease.

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