Tuesday, February 25, 2014

Justina Pelletier

This is the stuff that nightmares are made of.

Justina Pelletier is a 14 year old Connecticut girl that has, for all intents and purposes, been imprisoned by Boston Children's Hospital (BCH) in Massachusetts for the past 13 months.

Justina had been treated at Tufts Medical Center in Boston for mitochondrial disease, a genetic disorder that can cause a wide range of symptoms. Justina had been having severe issues with her gastro-intestinal tract and her head doctor at Tufts wanted her to be seen by the gastroenterologist who treated her for over a year but had left Tufts for BCH.

However, upon arrival at BCH, and despite her mother's insistence that Justina be examined by that doctor, the girl's case was headed by a neurologist that began to have doubts about the diagnosis of mitochondrial disease. He was especially disturbed by the number of invasive medical procedures the girl had undergone with little or no relief and the fact that two of the usual markers for the disease were missing.

The neurologist was also concerned about what he called "the black and white thinking of mom." Apparently this was the result of "mom" insisting with certainty that her daughter suffered from "mito."

"Mom" was Linda Pelletier who sounds like a lady that knows what she wants and isn't afraid to fight for it. The problem is that people, like doctors, who consider themselves as something akin to demi-gods don't like that kind of person. They don't like them because that kind of person isn't afraid to question the "ex cathedra" pronouncements that people like doctors sometimes make.

At any rate, the neurologist decided to call in a psychologist.

The psychologist began to note some oddities including that Justina seemed worse whenever "mom" was around.

Within three days BCH came to the conclusion that Justina suffered from a somatoform disorder. This is a psychiatric disorder in which distress manifests itself as physical symptoms. They informed Justina's parents that they would be following a new course of treatment which would eliminate many of the medications that the girl had been taking.

Needless to say, "mom" and the rest of the Pelletier family, including "dad," were not impressed. They decided, since Justina still had not seen the gastroenterologist that they had come to see in the first place, that the time had come to leave BCH and return Justina to Tufts.

To say that the relationship between "mom" and "dad" and the BCH staff was "strained" sounds like it would be a severe understatement.

However when the Pelletiers tried to have Justina discharged, they were informed that BCH had filed a complaint with the Massachusetts Department of Children and Families (DCF) accusing them of "medical child abuse" and hospital security would not let them take their daughter.

That's when "dad" called 911. Unfortunately, the police sided with the hospital and said everything would be ironed out in court the next day.

Well, things still aren't ironed out and in the latest misfortune to befall the Pelletiers, a family court judge ruled a few days ago that Justina would go to foster care rather than be returned to her family. Upon hearing the court decision Linda Pelletier collapsed and had to be taken to the hospital (but hopefully not Boston Children's Hospital).

Ok, so much for the general background. Unfortunately there is also a considerable undertow here. It seems the parents had been marked as "difficult" by multiple medical personnel including the doctors at Tufts. One pediatrician, according to the Boston Globe, had even accused them of "doctor-shopping" or getting care from multiple physicians without co-ordination. Keep in mind that "medical child abuse" is sometimes used as a euphemism for Munchhausen's by Proxy.

Just to further muddy the waters, the lead doctor at Tufts was a expert in, you guessed it, mitochondrial disease, and the psychologist at BCH had written a journal article on, you guessed it, somatoform disorder.

One other point to consider is that an older sister of Justina had also been diagnosed with mitochondrial disease and it apparently does tend to run in families.

I guess I don't really understand. I was always under the impression that, barring very unusual circumstances, a patient had the final say in his treatment. If the patient is a child then the final decision would fall to the parents or guardians.

It's that "unusual circumstances" caveat that makes this case a tad tricky I suppose. Still, considering what I think I know (which could very well be incomplete or even wrong) from reading several articles, a respected and trusted group of doctors at Tufts had made a diagnosis that the BCH staff questioned.

The usual way of working this out is to get everyone in on the same conversation to compare notes and to see if a consensus can be reached. If the disagreement persists, then one should defer to the patient or, in this case, the parents. Why this doesn't seem to have occurred in this case and why judges continue to side with the hospital baffles me.

 Here's what the United Mitochondrial Disease Foundation says about a diagnosis for mitochondrial disease.

"Mitochondrial diseases are difficult to diagnose. Referral to an appropriate research center is critical. If experienced physicians are involved, however, diagnoses can be made through a combination of clinical observations, laboratory evaluation, cerebral imaging, and muscle biopsies. Despite these advances, many cases do not receive a specific diagnosis." 

These diseases are apparently very difficult to diagnose with any certainty. The diagnosis at Tufts was described by the doctor there as a "working" diagnosis according to the Boston Globe. What seems clear is the girl had multiple extreme symptoms that neither hospital could account for with any certainty. The doctor at Tufts was a mitochondrial disease expert so, not surprisingly, he went with that. The psychologist that saw the girl at BCH had written an article on somatoform disorder so, not surprisingly, she went with that.

Who was it that said when your best tool is a hammer you tend to view every problem as a nail?

What a mess.

The worst part is that, according to reports, Justina's condition hasn't improved, and may have significantly degraded, after 13 months of psychiatric treatment.

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