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BRAIN ON FIRE - From Autoimmunity To Madness

Posted Nov 01 2012 12:00am

Brain on fire By Teresa Conrick

I just finished Susannah Cahalan's superb book,  BRAIN ON FIRE - MY MONTH OF MADNESS,  chronicling her bizarre and frightening trip into, and then out of the disease, Anti-NMDA Receptor Encephalitis.  I have been writing about Anti-NMDA Receptor Encephalitis   for the past two years, as it seemed to me, to have connections to my daughter's Autism diagnosis.  Megan had, these past years, exhibited odd seizures, strange movements with vocal tics and aggression.  Testing did not show antibodies to NMDA receptors but did show antibodies to GAD65, though the two appear connected.

Susannah vividly takes us along her journey from healthy twenty-four-year-old to seizures, hallucinations and entrance into the land of psychosis, with a very possible one-way ticket, to the end of the line.  With loving parents and two brilliant neurologists,  Josep Dalmau, M.D. and Souhel Najjar.M.D, throwing her a lifeline, Susannah ascends from Dante's hell from the immune treatments targeted at reversing the disease.  It is a read that will keep you moving from page to page voraciously as you see the monster coming and want to see how it is ultimately killed.  It truly seemed like a miracle as it is a horrific disease, seemingly on the increase   and some don't make it out with one hundred percent of themselves, and some don't make it out at all.

Like daffodils in the early days of spring, my neurons were resprouting receptors as the winter of the illness ebbed.     Susannah Cahalan   p197

I want to thank Susannah  for sharing her story and making the plea that so many cases are going unnoticed  -- "How many children throughout history have been exorcised and then left to die when they did not improve? How many people are currently in psychiatric wards and nursing homes denied the relatively simple cure of steroids and immune therapy treatments that brought me back from the brink?"  

She also brings up Autism and autoimmunity
Two particular fields of study, schizophrenia and autism, will likely gain the most from this landscaping of the elephant.  Dr. Balice-Gordon [Dr. Dalmau's colleague] believes that a percentage, albeit a small one, of those diagnosed with autism and schizophrenia might in fact have an autoimmune disease.  Many children ultimately diagnosed with anti-NMDA autoimmune encephalitis were first determined to be autistic.  How many children originally first diagnosed with autism weren't able to find their autoimmune diagnosis?  p 224   

My daughter, Megan, may be one of those children and I know that she is not alone.  Some common denominators that I have written about regarding Autism seem to have a possible connection to Susannah's story --- infections, hormones and cancer, with a specific focus on Melanoma.  I have discussed Melanoma   as some families seem to have a vulnerability to both Autism and Melanoma and how that may be, as they related to glutamate signalling .  Owning a cat, something Susannah also did, seems to put people at a higher risk for schizophrenia due to infection with Toxoplasma gondii, a parasite Susannah had a history of Melanoma, had recently been on hormones via birth control and there was the possibility of a bug bite [bedbug], too, all clues into causation.  Hormones seemed to be a trigger for Megan' s symptoms, as well. Susannah, in her book, further describes the changing landscape of autoimmune diagnoses
Dr. Najjar, for one, is taking the link between autoimmune diseases and mental illnesses one step further through his cutting-edge research, he posits that some forms of schizophrenia, bipolar disorder, obsessive-compulsive disorder, and depression are actually caused by inflammatory conditions in the brain.



Dr. Najjar is in the midst of groundbreaking work that might finally sever the barrier separating immunology, neurology, and psychiatry.  A recent case of his centers on a nineteen-year-old woman who had been diagnosed with schizophrenia by six leading psychiatrists over the course of two years.....Her parents did not believe the schizophrenia diagnosis and eventually made their way to New York University, where they met with Dr. Najjar.  He ordered a right frontal brain biopsy--something he had learned from my case--that showed the presence of inflammation and antibodies targeting the glutamate receptors in the brain.  She was treated with steroids, plasma exchange, and IVIG treatment, which helped with the hallucinations and paranoia, but because the treatment was started so late, it is unclear if she ever will return to her former self. 

"Just because it seems like schizophrenia doesn't mean that it is,"  Dr, Najjar told me.  "We have to keep humble and keep our eyes open."
   p225

I  think that PANDAS , another immune system illness, is also part of this increasing landscape.  I am hopeful that we have some more supporters in the paradigm shift, that these illnesses that present as neuropsychiatric, really have their roots in the immune system.  To elaborate more on the young woman above "with antibodies targeting the glutamate receptors in the brain,"  here is a full article about her and here is the study by Dr. Najjar et al
Glutamic acid decarboxylase autoantibody syndrome presenting as schizophrenia 

INTRODUCTION:

Glutamic acid decarboxylase (GAD) is the rate-limiting enzyme converting glutamate into γ-aminobutyric acid. Impaired GAD function can alter motor, cognitive, and behavioral function. Anti-GAD antibodies (GADAbs) can cause several neurological disorders. However, the association between anti-GADAbs and pure psychosis, without seizures or focal neurological deficits, is not well defined.

CASE REPORT:

A 19-year-old woman with recent-onset psychotic disorder was diagnosed with schizophrenia. Brain magnetic resonance imaging and cerebrospinal fluid analysis Serum anti-GADAb titers Brain biopsy showed subcortical gliosis and microglia-macrophage infiltration. The clinical syndrome improved with immune therapy.

CONCLUSIONS:

Severe psychosis and mild cognitive decline without other neurological features, meeting the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, text revision diagnostic criteria for schizophrenia, can result from brain inflammation associated with elevated serum anti-GADAbs.


Since my daughter's labs show a similar pattern with antibodies against glutamic acid decarboxylase 65 (GAD65), I am hoping we can have these honorable, brilliant doctors join us in helping our very ill children and see them in their true light  --  as children stricken with immune and autoimmune illness and disease  --  needing proper testing and treatments.  It has been almost seventy years since Dr. Leo Kanner and the field of Psychiatry took Autism under lock and key.  It is finally time for the truth to be known.
"Presence of GAD65 autoantibodies in the serum of children with autism or ADHD.


Abstract

Antibodies against glutamic acid decarboxylase 65 (GAD65) have been detected in the serum of patients with several neurological disorders. The presence of antibodies against GAD65 has not yet been examined in the serum of patients with neurodevelopmental disorders such as autism or attention-deficit/hyperactivity disorder (ADHD). In this study, GAD65 antibodies and total IgG were assayed in the serum of normal subjects and patients diagnosed with autism or ADHD. GAD65 antibodies were detected in the serum of 15% of children with autism (N = 20), 27% of children with ADHD (N = 15) and of none of the controls (N = 14). The serum of 60% of autistic and 53% of ADHD patients reacted with Purkinje neurons in mouse cerebellum. Serum from 20% of ADHD patients reacted also with the cells in the molecular and granule cell layers and cells in the vicinity of the Purkinje neurons. No association was found between the titer of GAD65 antibodies and total IgG levels, and presence of seizures or mental retardation. None of the ADHD patients were diagnosed with mental retardation. Serum anti-GAD65 antibodies may be a common marker of subgroups of patients with autism and ADHD. Reactions of serum antibodies with the cells in the cerebellum in these patients suggest direct effects on brain function. The subgroup of children with autism and ADHD that tests positive for GAD65 antibodies needs further characterization in a larger study."

How many thousands of children continue to be labeled "Autistic" and are receiving no immune workup, no labs, no immune treatments and no hope for recovery or for improvement in their quality of life ? 

Teresa Conrick is Contributing Editor to Age of Autism.

Posted by Age of Autism at November 26, 2012 at 5:45 AM in Teresa Conrick Permalink

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