Tuesday, February 9, 2016

Mitochondrial disorders and medical child abuse

A letter in response from the Mitochondrial Medicine Society:
February 3, 2016
To the Medical Advisory Board of Chicago Med
Episode 8 of Season 1 of Chicago Med focused on a child with a diagnosis of presumed mitochondrial disease that was in fact a victim of Medical Child Abuse.
As Mitochondrial Medicine specialists, we at the Mitochondrial Medicine Society, were disappointed at this misleading portrayal of a very real and devastating genetic disorder.
Mitochondrial disorders represent a group of multi-system genetic disorders, presenting heterogeneously, with symptoms that can affect several organs with varying degrees of severity. Due to their rarity and the need for a clinician to recognize their diverse presentations, the diseases can be difficult to diagnose. There exist published peer-reviewed medical guidelines on diagnosis and management. Advances in genetic testing can allow for a diagnosis to be rapidly confirmed. Muscle biopsies are no longer the gold standard diagnostic test of choice. A team based approach is necessary for optimal care.
In recent years, mitochondrial diseases have come to be associated with medical child abuse, in part, due to the sensationalism of a case at Boston Children’s Hospital. This association has unfortunately led to families caring for patients with a very real and progressive genetic disorder being falsely accused of medical child abuse and patients not receiving appropriate medical care.
As a popular television show, Chicago Med had the opportunity to tell the story of patients and families suffering with this rare disease. We fear instead that the episode only helped legitimize misconceptions held about the disease.
We, in partnership with mitochondrial disease support organizations UMDF and MitoAction, urge the lay media to provide an accurate representation of this disorder.
The Mitochondrial Medicine Society (MMS)*
 Courtesy of a colleague


  1. Looking for an expert on mitochondrial disease, the new NBC medical drama "Chicago Med" found one in Akron. They put in a call to Dr. Bruce Cohen, the director of Akron Children's Hospital's NeuroDevelopmental Science Center.

    Cohen is a nationally known expert on mitochondrial disease, which figures in a case tackled during the "Chicago Med" episode airing at 9 p.m. Tuesday, Feb. 2, on WKYC Channel 3. Mitochondrial disease is a group of disorders caused by failure of the mitochondria, specialized organelles that convert food molecules into the energy that powers most cell functions. Mitochondria are present in every cell of the body except red blood cells.

    "There are many truths and misconceptions about mitochondrial disease," Cohen said. "The writers of the show wanted to get my opinion regarding the typical presentation of patients with mitochondrial disease. They did not ask me specifically about the content of the show."

    The third of executive producer Dick Wolf's three "Chicago" series, the "Chicago Fire" spin-off follows the day-to-day chaos of the city's newest state-of-the-art trauma center. Cleveland native Nick Gehlfuss, who grew up in Chesterland, plays chief ER resident Will Halstead.

    Cohen was contacted by a researcher in late October.

    "My involvement as an adviser was actually pretty brief," Cohen said. "We did it over a phone call. They asked me some open-ended questions about mitochondrial disease and whether or not it was easily misdiagnosed or ever went undiagnosed. We do hope to raise awareness about mitochondrial disease. However, I did not actually see the script nor [did I] do any line-item discussion about the show's content."


  2. Natalie hits the ground running when a 13-year old girl comes into the ER in respiratory distress. Natalie is immediately concerned because the girl recovers too quickly when according to her father, she is supposed to have a very rare disease. Halstead isn’t buying the diagnosis the girl’s father has given, mostly because he never got a muscle biopsy. When he tries to convince the father a biopsy is necessary, Halstead is attacked for his troubles and the girl collapses. Dr. Charles witnesses the whole incident and is immediately concerned. He and Halstead secretly watch the girl and whisk her away so that Dr. Charles can talk to her one-on-one without the father’s interruption. Dr. Charles is convinced that the proper diagnosis is Conversion Disorder. Ever since the girl’s mother died, her father has been devastated. Everytime she gets sick, he is not as sad because he is preoccupied. This wouldn’t be such an issue if she actually had any physical ailments. Charges of Medical Child Abuse are brought against the father, and he retaliates by trying to involve the police. It does no good, but the circumstances force the father to at least consider the possibility that he could have. It sounds dumb and cliché, but it really is true that the first step to healing is admitting you have a problem.


  3. The episode began with Dr. Natalie Manning (Torey DeVitto) returning to work after taking a month off on maternity leave. She was not very comfortable leaving baby Owen at home for the very first time, but gets her first case back with a thirteen year-old patient named Michelle Joffe (Maisie Merlock), who was accompanied by her father, Henry Joffe (Matthew Humphryes).

    Michelle, at first, couldn’t seem to breathe, but after her father left the room, she suddenly became better. Natalie then learned that Mr. Joffe had diagnosed her with mitochondrial disease, based on what he had researched online, and presented her with a file containing all of Michelle’s medical history.

    Natalie then later asked Dr. Will Halstead (Nick Gehlfuss) for a second opinion on Michelle’s case as Will was free at the moment and his patient, former Chief Petty Officer Mason (Laurence Mason), was being attended to by his old navy buddy, Dr. Ethan Choi (Brian Tee).

    Michelle’s case confused both of them, and Mr. Joffe began to get mad at them after they recommended that Michelle should have a muscle biopsy in order to confirm the diagnosis. Michelle, who had been eavesdropping on them, then fainted after complaining that her stomach hurt, and hurt her hand. She then called out for her father.

    This intrigued Dr. Daniel Charles (Oliver Platt) who saw the entire thing and, without Natalie’s permission, had Will secretly tape all of Michelle’s interactions with the staff. He then told Sharon Goodwin (S. Epatha Merkerson) that he needed to speak to the father and daughter separately as he believed that the daughter was trying to seek attention by becoming sick.

    Right before the MRI scan he talked to Michelle and confirmed that this was the case. Mr. Joffe, ever since he started taking care of Michelle, did not seem depressed anymore over his wife’s death. However, Mr. Joffe would not listen to them. They were forced to call the Department of Family and Child Services who took him into custody for medical abuse.

    He then later on tried to get the police involved. However, after discovering that that attempt was futile, he began to slowly accept the fact that both Michelle and he were at fault. In the end he was able to see Michelle while being watched over by Charles.



  4. Katharine Doughty, Corey Rood, Anup Patel, Jonathan D. Thackeray, Farah W. Brink. Neurological Manifestations of Medical Child Abuse. Pediatric Neurology, 2016-01-01, Volume 54, Pages 22-28.



    Medical child abuse occurs when a child receives unnecessary and harmful, or potentially harmful, medical care at the instigation of a caretaker through exaggeration, falsification, or induction of symptoms of illness in a child. Neurological manifestations are common with this type of maltreatment.


    We sought to review common reported neurological manifestations that may alert the clinician to consider medical child abuse. In addition, the possible sequelae of this form of child maltreatment is discussed, as well as practice recommendations for establishing the diagnosis and stopping the abuse once it is identified.


    A review of the medical literature was conducted regarding the reported neurological presentations of this entity.


    Neurological manifestations of medical child abuse include false reports of apparent life-threatening events and seizures and reports of induction of symptoms from poisoning. Failure to correlate objective findings with subjective complaints may lead to unnecessary and potentially harmful testing or treatment. This form of child maltreatment puts a child at significant risk of long-term morbidity and mortality.


    A wide variety of neurological manifestations have been reported in cases of medical child abuse. It is important for the practicing neurologist to include medical child abuse on the differential diagnosis.