Resources
NOTE: Metabolic disease/disorder information consistently refer to infants and children. Sean and Andrea had their inborn metabolic disorder diagnosed when they first became ill with metabolic decompensation (crisis) in their 30’s.
The purpose of sharing our family story, published in the New York Times Magazine March 21, 2021 edition, is to alert and inform friends and family, as well as medical practitioners outside of a pediatric setting, in the hope that what may appear as sudden or recurring Neurological or Psychiatric symptoms, may be an un-diagnosed potentially life-threatening rare metabolic disease. Sean and Andrea may be the first known cases in the world with adult-onset. There may be others that are un-diagnosed or mis-diagnosed.
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A case report of an army soldier presenting to the emergency department with acute metabolic derangement resulting in encephalopathy, cerebral edema, and death is presented. The patient had no medical diagnoses before entering military service and was triaged in the emergency department with the common complaint of presyncope. However, as encephalopathy worsened, the patient experienced altered mental status, lethargy, emesis, and seizure. This patient ultimately died because of rapid decompensation. Maple syrup urine disease pathophysiology and treatment recommendations are reviewed.
“Experts consider encephalitis something of a mystery, and its origins and progress unpredictable. While encephalitis may be caused by a virus, bacteria or autoimmune disease, a precise cause remains unknown in
50 percent of cases. Symptoms range from fever, headache and confusion in some, to seizures, severe weakness or language disability in others.”
Similar story of adult medical systems not identifying rare metabolic diseases expected to manifest in infancy and early childhood. Watch on Netflix.
Episode 1: “Detective Work”
Diagnosis Episode 1 follows 23-year-old Angel. Angel experiences excruciating pain, starting from her legs and shooting up her body. What’s admirable about Episode 1 is how Angel is incredibly determined to find a diagnosis so she can move on with life. “Detective Work” does a grand job in opening up the Netflix series and presenting Lisa Sanders’s method.