Justina Pelletier, a Connecticut teenager with mitochondrial disease, was admitted to Boston Children’s Hospital in 2013 on the advice of a metabolic geneticist at nearby Tufts Medical Center so she could see her longtime gastroenterologist, who had recently transferred to Boston. But the hospital — without consulting the Tufts geneticist — decided the girl’s problem was psychiatric rather than mito.
When her parents tried to get Justina transferred to Tufts, Boston Children’s called the authorities, claiming they were harmfully interfering in her care. A juvenile court judge agreed, and Justina’s parents lost custody. After more than 16 months in state custody, much of it in a locked psychiatric ward, the traumatized teen was returned to her family — still in a wheelchair, and still sick from her disease.
In another well-documented case involving Boston Children’s, Jessica and Sean Hilliard of Attleboro, Massachusetts, asked the hospital to test their 3-year-old son for mitochondrial disease, which often runs in families, after he showed symptoms of the rare disorder; his older sister had died of mito there in 2011. A hospital pediatrician accused the parents of inventing their son’s medical issues, after which they transferred the boy’s care to Tufts, where he received several diagnoses, including mito.
Yet, that didn’t stop Boston Children’s from calling a Tufts child-abuse specialist, who reported the Hilliards for “overmedicalization.” The state intervened, but backed off only after the parents took their son off of his medications. During the ensuing six-week hospitalization, the boy’s condition worsened, until the treatments were restored. Authorities eventually dropped all charges.
Those two cases generated lots of publicity. But in recent years, the U.S. mitochondrial disease community has been hit with hundreds of other false accusations of medical child abuse. MaryBeth Hollinger of MitoAction says the problem is getting worse.
“This issue comes up over and over,” said Hollinger, director of education, support and advocacy at the Boston-based nonprofit organization. “Munchausen syndrome by proxy is a real thing and it happens extremely rarely. But this new term ‘medical child abuse’ is really a game changer. It’s basically Munchausen by proxy but with no boundaries — and it often includes medical neglect, which I find ironic.”
Hollinger, who has been with MitoAction for eight years, was previously a nurse at New York’s Albany Medical Center. She spoke about medical child abuse at an October 2017 rare disease summit in Washington, D.C., sponsored by the National Organization for Rare Disorders, which counts MitoAction among its 260 patient advocacy groups.
“We need medical professionals, but the way I see it, the families are experts on their child in a way the doctor isn’t,” Hollinger explained. “We are not all the same, even if we have the same genetic mutations.”
She added: “Child protective agencies are out there, and they work quite closely with the doctors. But they’re overworked and they know nothing about rare diseases. So, if some doctor or school says ‘I think they’re overdoing it,’ Child Protective Services will ask the name of this disease. They’re already aligning themselves — and not in your ballpark.”
Hollinger said she’s spoken with close to 100 families that faced similar situations.
“We may get calls for a different reason, but in the course of the conversation, a lot of times you uncover that they also went through accusations of medical child abuse,” she said. “So even though they didn’t call us about this, it sort of comes up. This is why they’re afraid.”
Added Kira Mann, CEO of MitoAction: “You’re talking about a child potentially being removed from his or her home. This is so far beyond making a treatment decision. The implications of that to a family are just incomprehensible.”
Maxine Eichner understands that all too well. An attorney and professor at the University of North Carolina at Chapel Hill, she specializes in family law — and has a daughter with mito.
“I certainly see accusation after accusation come across my desk, many of them cases in which there is a confirmed genetic disease,” Eichner told Mitochondrial Disease News. “Most mitochondrial diagnoses are not confirmed. That doesn’t mean they’re not real, just that our knowledge of what gene mutations can produce is new and developing. But I see many cases in which it’s quite clearly a real medical case, and there are still doctors, schools or other organizations out there who insist this is the product of a parent’s abuse, rather than child’s illness.”
Eichner, who in July 2015 wrote a New York Times opinion piece on the subject, said that for every real case of medical abuse, there are at least two false positive cases. Her research led her to conduct an online poll that attracted 95 respondents in 30 states who had been falsely accused of overmedicating their children.
“My guess is that’s just the tip of the iceberg,” said Eichner, who joined MitoAction’s medical child abuse task force at the urging of her daughter, whose mito symptoms began at the age of 10, when she had her first migraine. Ultimately, the disease caused the girl to miss nearly two years of school.
Eichner said she and her husband were lucky not to have been charged with medical child abuse during the eight years they searched for answers.
“When I started to look into the science, I was horrified. All throughout our history, many doctors had jumped to the conclusion that it was either in her head, or that I was part of the problem,” she said. “My husband and I are both attorneys and we advocate for ourselves. What has happened with so many of these parents, in my view, is horrifying and completely unconstitutional. It violates parents’ right to choose medical care in their kids’ best interests.”
False charges seen to be ‘snowballing’
The problem isn’t limited to children with mitochondrial disease.
Several years ago, Sara and Paul Mayo of Arlington, Texas, brought their 16-year-old daughter to Cook Children’s Medical Center in Fort Worth after she complained of acute stomach pain — and difficulty walking — with no clear cause. But specialists who had not treated her on two prior hospital visits insisted the teenager had psychological issues and needed in-patient treatment.
The parents disagreed, insisting on a second opinion from the Mayo Clinic in Rochester, Minnesota. Cook Children’s immediately called authorities to report their suspicions of medical child abuse. Charges against the parents were dropped only after the Mayo Clinic diagnosed the girl with gastric ulcers.
Charles A. Mohan Jr. is CEO and executive director of the Pittsburgh-based United Mitochondrial Disease Foundation.
“We try to educate parents on how to go about seeking proper medical attention for a child that may be suspected of having a mito disease,” said Mohan, whose group does not track suspected medical child abuse cases as actively as MitoAction.
“I certainly don’t disagree [with MitoAction], but we have to be very careful as patient advocates,” Mohan warned. “The last thing we want to do is put a fear into caregivers or parents not to seek medical attention because of fear of being accused of medical child abuse.”
Eichner said that despite advocacy and lobbying on this issue by MitoAction and other groups, “I don’t see any huge progress having been made in these past years.”
In her New York Times op-ed, Eichner also quoted Mark Korson, MD, the geneticist who treated Justina Pelletier at Tufts, as saying that such false charges have “snowballed” nationally. In Michigan, one of the few states that compile such figures, an average 51 accusations of medical abuse were filed against caretakers every year between 2010 and 2013; extrapolating this to the entire U.S. population, Eichner wrote, translates into more than 1,600 charges annually.
Some of the diagnostic criteria doctors use for medical child abuse are parents seeking care from more than one medical provider, and more than one organ system being affected. “Mito diseases invariably involve both of these,” she said. “It affects more than [one] organ system, and because of that parents seek more than one medical expert.”
Advice for parents
Mann said that MitoAction’s focus is two-fold.
“We want to make sure that the physicans who treat these children are educated [about mitochondrial disease],” she said. “We also want to make sure the parents understand how to best communicate with their medical team so that it’s clear that when they’re asking questions or seeing multiple doctors, they’re really just trying to get answers to this disease that has so many unknowns — and that there are no negative intentions.”
Yet Hollinger spoke of a general lack of awareness, noting that “most doctors were never taught anything about mitochondrial disease.” Because the disease involves energy production, it varies greatly from one person to the next.
“You can have two siblings in the same family,” she said. “Little sister A can have severe neurological issues and can’t walk, and big sister B, with the exact same mutation, might not have seizures, but have severe gastrointestinal issues. People just don’t understand.”
In addition, she said, “depending on how your energy systems are going, the symptoms can totally vary — not just week to week or day to day, but even minute to minute.”
For all these reasons, Hollinger advised parents to watch what they say around doctors and nurses, and to think twice before posting photos of their children on Facebook or Twitter.
“You have to really be careful about what you share, and how it could impact your child down the line,” she said. “I would definitely say no photos. What law enforcement does is use social media to see if you are guilty or not. It is the most important aspect of their investigation. They consider social media your crime scene. Any picture that could embarrass your child at less than 18 years old is considered abusive.”