The case of Justina Pelltier is troubling on many different levels. She is the 16-year old girl from Connecticut who was removed from her home by the state of Massachusetts based on a flimsy and controversial psychiatric diagnosis. At one point in time Justina was a healthy teenager who enjoyed figure skating and other activities appropriate to her age group. She suddenly developed a flu-like illness and within a short period of time her health virtually fell off a cliff.
Her desperate parents took her to Tufts Medical Center, one of the top medical institutions in Boston, to be evaluated by a specialist named Dr. Mark Korson. He diagnosed her with a rare mitochondrial disease that robs cells of their ability to produce energy. After a period of time her condition worsened so Dr. Korson referred her another specialist at Boston Children’s Hospital. Somehow Psychiatrists at this institution decided that Justina had a condition called “somatic symptom disorder”—more or less hypochondria or a “fake” illness. They viewed Dr. Korson’s diagnosis as fake and flimsy, so they reported this as child abuse to the Massachusetts Department of Children and Families. After a cursory evaluation they decided to terminate her parent’s rights and they assumed custody of Justina. Since then she has been locked up in a Psychiatric facility with little access to her family. Can anyone say “1984 all over again”? Since then Justina has become the poster girl of what happens when a government agency goes bad.
What it really comes down to is “What went wrong?” That’s a challenging question but somehow sanity eventually prevailed and recently Justina was returned to the custody of her parents. In my opinion it comes down to a simple mantra—how could two world-class medical organizations allow themselves to get involved in this sordid affair? They couldn’t agree on a diagnosis so a wonderful young women and her family suffered the consequences of their ineptitude. In my opinion Dr. Korson acted professionally whereas the physicians at Children’s Hospital came up woefully short, especially on the ethics and common sense scales. What if anything can we learn from this unfortunate case?
Mitochondrial diseases are a somewhat hard to define group of disorders characterized by a failure of mitochondria to produce adequate amounts of energy. All cells have these energy producing factories and when they fail to produce energy the cell can’t function properly. This can result in a long list of seemingly unrelated symptoms that overlap with many other illnesses. It’s important to remember that both these diagnoses are essentially based on clinical considerations. Although a muscle biopsy can be helpful in the diagnoses of some types of mitochondrial disorders, there isn’t universal agreement about the best way to make a diagnosis. Thus a diagnosis of mitochondrial disease can be a little mushy leaving room for others to question the diagnosis.
Somatic symptom disorder is a psychiatric condition where there is no apparent physical basis for a multitude of symptoms. By its very nature this condition is very difficult to diagnose and treat. This case would have been merely about diagnostic disagreements if the state of Massachusetts hadn’t gotten involved, turning it into a cause celebrity for anyone concerned about government overreach in our personal lives. As a practicing physician I’ll leave the politics to others. As a practicing physician my focus is on the hope that Justina and her family can soon return to a healthy and normal life.
In this type of situation it sometimes helps to play the devils advocate. For example, what if neither diagnosis is correct and she actually has a disease that nobody has yet mentioned? When I read about her long list of symptoms I recognized that we often see many patients with at least some of these symptoms and when we do they can end up with many different diagnostic labels. When we see patients with all these symptoms the list of possible diagnoses narrows considerably. In my opinion many of these patients have a form of food induced brain dysfunction that we now call Carbohydrate Associated Reversible Brain syndrome or CARB syndrome. The idea that food can adversely affect brain function over time isn’t new, but the CARB syndrome model is the first time this brain dysfunction has been described as a distinct disease. To date we have identified 22 symptoms associated with CARB syndrome and Justina seems to have most of them.
When I look at pictures of Justina and her parents, I suspect that her mother and father also have some degree of CARB syndrome. They both appear to be storing excessive body fat, one of the hallmark elements of CARB syndrome. Because the brain plays a key role in auto-regulating metabolism and fat stores, people with CARB syndrome seem to have metabolic problems like insulin resistance and obesity. They tend to store excessive body fat even when they lose lean body mass from under-eating. The idea that you can be thin with too much fat is a relatively new concept, but when you measure body composition rather than rely on weight or BMI it becomes apparent that many people fit this model. Looking at Justina I suspect she falls into this category.
News reports have also documented that her parents have some challenging behaviors, including yelling at medical personnel and officials from the state. The judge in the case noted that the Pelletier parents “have engaged in outbursts, name-calling and obstructionist behaviors, delaying resolution of the case”. Their obstreperous behavior likely contributed to the judge’s decision to remove Justina from their home. Excessive anger, poor judgment and poor impulse control are all typical CARB syndrome symptoms. I suspect that any parent, myself included, might react poorly to this type of situation but those who have CARB syndrome will have more problems containing negative thoughts and behaviors than those with healthy brain function.
Because CARB syndrome is a new disease concept that most physicians are not yet familiar with, we can’t expect Justina’s physicians to consider it as a possible explanation for her symptoms. Even so I think it’s useful to give it some consideration for several reasons. It isn’t very good news if she has either a mitochondrial disorder or somatic symptom disorder. Both conditions are considered “dead end” illnesses because there are no proven and effective treatments for either condition. What good is a diagnosis if the treatment options are severely limited?
Even though CARB syndrome is a new and unproven concept, it does have one big advantage over the other two conditions—the disease can be totally reversed by effective treatment and all the treatments for the condition are low or no risk. I have been using this disease model to successfully treat thousands of patients over the past few decades so I am not afraid to recommend this approach to others. CARB syndrome appears to be the result of a combination of genetic predisposition and long-term exposure to three dietary elements:
- Excessive fructose mainly from sugar and HFCS.
- High glycemic carbohydrates mainly from grains.
- Excessive omega 6 fatty acids from vegetable oils.
Of course this describes typical modern processed food. The core of treatment for CARB syndrome is eliminating or greatly reducing these three dietary elements. I am willing to bet dollars to donuts (no pun intended) that if Justina were to follow a Paleo style diet or a ketogenic (high fat) diet and take a few targeted supplements she would immediately start to slowly improve and eventually return to a healthy state. I would also recommend that she measure her AA/EPA level and supplement with a high quality omega 3 supplement to get the ratio to 1.5-3 as outlined on Dr. Sear’s web site. It’s important to remember that many chronic medical conditions like diabetes, dementia and Parkinson’s disease and common psychiatric illnesses are associated with some degree of mitochondrial dysfunction and the same is true for CARB syndrome.
Thus regardless of which label you paste on Justina—mitochondrial disease, somatic symptom disorder or CARB syndrome, she will still end up with some degree of mitochondrial dysfunction. What we really need to know is “Who’s driving the bus?” With mitochondrial disease it is assumed that the pathology occurs primarily on a cellular basis and later organs like the brain are adversely affected. With most psychiatric disorders we have no idea about the underlying pathology so we are left using drugs to treat symptoms. With CARB syndrome we assume that the brain is affected very early in the disease process and the resulting brain dysfunction affects the rest of the body in a downstream manner. Thus treatments based on the mitochondrial disease model will focus on trying to fix cellular metabolism (good luck with that) whereas treatment for CARB syndrome is targeted at protecting and enhancing brain function. At this point my only comment to Justina and her family is “What do you have to lose?”
My opinions are based on pure speculation because we don’t know what treatments Justina received from Dr. Korson when he was managing her case. Low carbohydrate diets and ketogenic diets are sometimes recommended for those with mitochondrial disorders so she may have already tried this dietary approach. Even if she has, in my experience it takes a comprehensive treatment approach to reverse food-induced brain dysfunction as I outline here: http://carbsyndrome.com/fourteen-ways-to-super-charge-your-brain/
If Justina were to take advantage of all 14 of these treatment elements I suspect that her health would dramatically improve over a period of time. For all of us who have been following this tragic case it’s great news to here that she will be returning to her family. Regardless of her diagnosis and treatment, her chance of experiencing a recovery is much more likely if she is surrounded by a supportive family and friends.