If you are part of the mitochondrial disease community, there is no doubt that in the past few weeks you have heard the news of Justina Pelletier, a 15 year old girl who was diagnosed with mitochondrial disease by a renowned metabolic doctor, who this past February went to Boston Children’s Hospital ER with the flu. A few days after she came to the hospital her family was told she did not have mitochondrial disease but instead a “SOMATOFORM DISORDER” and she was being transferred to the psychiatric ward and removed from all her mito medications, oh…and her parents were told that they no longer had custody of Justina, either. December marks 10 months of Justina being in the hospital without her family and tomorrow (Dec 12th) will mark a custody hearing that will decide if her parents custody is restored. You can read more about this story here, here, here, here, here , here and you can watch Cristy Balcells, Executive Director of Mitoaction, discuss it on Glenn Beck here:
So you may be wondering , like so many of us are in the Mitochondrial Community, “What is SOMATOFORM disorder?”
Good ‘ole Wikipedia defines it this way:
“A somatoform disorder is a mental disorder characterized by symptoms that suggest physical illness or injury – symptoms that cannot be explained fully by a general medical condition or by the direct effect of a substance, and are not attributable to another mental disorder (e.g., panic disorder). In people who have a somatoform disorder, medical test results are either normal or do not explain the person’s symptoms, and history and physical examination do not indicate the presence of a medical condition that could cause them. Patients with this disorder often become worried about their health because doctors are unable to find a cause for their symptoms. This may cause severe distress. Preoccupation with the symptoms may portray a patient’s exaggerated belief in the severity of their ill-health. Symptoms are sometimes similar to those of other illnesses and may last for several years. Usually, the symptoms begin appearing during adolescence, and patients are diagnosed before the age of 30 years. Symptoms may occur across cultures and gender. Other common symptoms include anxiety and depression. In order for an individual to be diagnosed with somatoform disorder, they must have recurring somatic complaints for several continuous years.”
in addition :
“The somatoform disorders are actually a group of disorders, all of which fit the definition of physical symptoms that mimic physical disease or injury for which there is no identifiable physical cause; as such, they are a diagnosis of exclusion.”
“The somatoform disorders are actually a group of disorders, all of which fit the definition of physical symptoms that mimic physical disease or injury for which there is no identifiable physical cause; as such, they are a diagnosis of exclusion. They are recognized by the Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association as the following:
- Conversion disorder: A somatoform disorder involving the actual loss of bodily function such as blindness, paralysis, and numbness due to excessive anxiety
- Somatization disorder: A disorder characterized by multiple physical complaints which do not have a medical explanation.
- Hypochondriasis: A somatoform disorder involving persistent and excessive worry about developing a serious illness.
- Body dysmorphic disorder
- Pain disorder
- Undifferentiated somatoform disorder – only one unexplained symptom is required for at least 6 months.”
Ok so now we know what it is defined as…
My question is HOW DO YOU PROVE someone has a SOMATOFORM disorder if there is no biological test associated with it? Just a “diagnosis of exclusion”? And that brings me to the question, HOW DO YOU DIFFERENTIATE between a MITOCHONDRIAL DISORDER (which is occurring at the sub-cellular level) and a SOMATOFORM DISORDER? Well, since there are biochemical markers for Mitochondrial disorders, so one would assume if there is positive biochemical proof for another disorder (Mito) then a somatoform disorder could not exist (since it is a diagnosis of exclusion).
Thankfully, a respected mitochondrial doctor from LosAngeles, Dr. Richard Boles, has investigated just this very question and published his findings here:
Ann Gardner and Richard G Boles
In a nutshell, the paper finds that by asking 6 simple screening questions (having patients rate the validity of the statement for themselves):
“My heart sometimes beats hard or irregularly for no real reason.
I often have aches in my shoulders and in the back of my neck.
My body often feels stiff and tense.
I think I must economize my energy.
In order to get something done I have to spend more energy than most others.
I feel easily pressured when I am urged to speed up.
(and getting a score of 4 (answer= Applies completely) on 2 – 6 questions = Positive response )
“Applying the American data in a highly-selected population whereas 67% have some degree of energy depletion (equal to that in our Swedish cohort), our data corresponds to a 93% positive predictive value and a 72% negative predictive value for the screening battery, with a positive response defined as 2 to 6 questions answered as “Applies Completely”. In a hypothetical population of lesser acuity whereas only 10% have some degree of energy depletion, our data corresponds to a 64% positive predictive value and a 95% negative predictive value.”)
“Our preliminary data suggest that a small number of specific somatic-related questions, inquiring for symptoms that likely would be instantly recognizable by Briquet and Freud, can be constructed into a valid screening instrument for cases at high risk for having a component of energy metabolism in their pathogenesis, or “mito- somatic” illness.”
DID YOU GET THAT? By asking the patient a few questions and then TESTING them (through in vitro muscle ATP production rates using α-ketoglutarate as substrate- cplx 1) for mitochondrial dysfunction and low ATP (energy) production, there was a POSITIVE PREDICTIVE correlation between the questions and the mitochondrial dysfunction and the “somatozation” symptoms such as depression.
Ok, so what do you make of all this? If I have learned ANYTHING on this mitochondrial journey that we have been on with Lady A, it is that behaviors and actions are intimately connected to the metabolic status, health and energy levels of a child or adult with mito. Learning about mito has made me look at ALL psychiatric disorders in a new light and question is it really “all in your head” or “just a mental illness” or IF anyone has looked deep enough into that person’s cellular energy stores to see if something else is making them feel and act unusual or depressed or manic or autistic or rageful or aloof or …or….or?
I will end with ONE final observation why in this day and age of the most advanced medical technology available, are we still diagnosing individuals with a medical concept that was introduced before the turn of the century (1895)? I once believed it was because NO one had studied this group of individuals with psychiatric illnesses from a metabolic perspective. Until I found this paper from 1934: Lactic Acid (and Glutathione) levels in Patients with Schizophrenia Guess what was elevated Lactic Acid with low levels of Glutathione… and guess what is the HALLMARK biomarkers in Mitochondrial disease… YUP, you guessed it elevated Lactic acid with low levels of Glutathione- Coincidence?
I THINK NOT!
Now it is time for all of us to UNITE and to start talking MORE OPENLY AND TRANSPARENTLY (than we ever have before) about this, not just within our mito community, but with the ENTIRE medical and psychiatric professions as a whole.
We only move mountains when we all stand TOGETHER and PUSH on the SAME ONE. -babyfoodsteps.com
Editor’s Note: Please say an extra prayer for this family this evening that they are reunited after tomorrow’s hearing, and another prayer for all the families who this has happened to before them. While we would all like to pretend that this is an isolated incidence it is NOT and has happened to so many families with mitochondrial disease (and many other disorders also). If you are a family who has been falsely accused please contact (confidentially) Mitoaction’s executive director Cristy Balcells (she can be reached at director at mitoaction dot org) to share your story. The Mitoaction Advocacy page can be found Here.
Editor’s Note: Here is another paper discussing the shortfalls of the somataform diagnosis. One such shortcoming the authors note:
The diagnosis of somatoform disorder requires the exclusion of general medical conditions. However, there is lack of clarity about which medical diagnoses should be regarded as exclusionary: for example, do medical “functional syndromes,” such as irritable bowel syndrome, count as exclusions? One consequence of this lack of clarity is that patients may be classified as having both an axis III disorder (for example, irritable bowel syndrome) and an axis I somatoform disorder (such as undifferentiated somatoform disorder or pain disorder) for the very same somatic symptoms. This seems to be ridiculous.
Editor’s Note: Here is a 2 part feature done by the Boston Globe on Justinia’s case:
Editor’s Note: Dec. 22 update. On Friday Dec.20, the Judge did not release #justina into the custody of her parents, but delaayed the decision until January.