Elusive Diagnosis

This story is actually two related stories. The first tells the story Andrea’s unexplained acute illness at the age of 30 that resulted in her death, despite doctor’s efforts to arrive at a diagnosis. The second story focuses on Andrea’s brother Sean, who presented with similar alarming symptoms a mere two months+ after Andrea’s unexplained death.

The family wishes to share their story in the hope that doing so will:

1. Raise awareness of the possibility that adults experiencing sudden onset or recurring and un-diagnosed delirium, delusions, confusion, psychosis, and/or other neurological and psychiatric symptoms may have an inborn metabolic disease.

2. Educate individuals and their families on the importance of being strong advocates with the medical system when dealing with undetermined causes leading to serious illness.

3. Alert neurologists, psychiatrists and emergency department practitioners to the possibility of metabolic disease and acute metabolic crisis when a patient presents with symptoms appearing as neurological or psychiatric.  

4. Encourage health providers outside of a pediatric setting to update protocols in responding to these potentially life-threatening conditions.

5. Attract medical researchers to this story in the hopes they may do research on undetermined deaths related to encephalitis and potentially other non-specific causes of death. 50% of deaths from encephalitis have an undetermined cause according to Johns Hopkins Medicine.

Andrea’s illness challenged the medical community.
They treated Andrea for:

• Influenza

• Food poisoning / Dehydration / Saline IV

• Confusion, Delirium, Delusions, Hallucinations, Psychosis / Anti-Psychotic drugs

• Seizures / / Anti-seizure drugs

• Encephalitis - / empirically treated for anti-NMDA Encephalitis (auto-immune) with high-dose steroid

Andrea survived 12 days in hospital of which the last 5 days were in ICU. She died of an undetermined cause and her case was referred to the Medical Examiner.

This story is based on family experience. The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. This information does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. Please consult your health care provider before making any health care decisions or for guidance about a specific medical condition.