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Rare diseases are often misdiagnosed as common conditions

On Behalf of | Nov 8, 2022 | Medication Errors

Medical professionals in California and around the country have access to the world’s most sophisticated diagnostic systems and equipment, but mistakes are still worryingly common. Doctors face their biggest challenges when rare and potentially deadly conditions have similar symptoms to less serious but far more common illnesses, and things get particularly difficult when neurological or hereditary diseases present in much the same way as common psychological problems. When diagnostic errors are made, they are sometimes only discovered after months of ineffective and futile treatment.

Neurological misdiagnosis

Anti-NMDA receptor encephalitis, which is also known as “Brain on Fire” disease, is a rare neurological condition that uses the body’s own antibodies to attack the brain ‘s NMDA receptors. People who suffer from anti-NMDA receptor encephalitis often behave erratically and can be happy one moment and sad the next, but these symptoms are often seen as signs of depression or alcohol withdrawal by doctors and psychologists. This common misdiagnosis can cast a long shadow because anti-psychotic drugs do not help patients with anti-NMDA receptor encephalitis. The only effective treatment is weeks or months of immunotherapy.

Inherited disorder

Children who suffer from the inherited neurological disease neurodegeneration with brain iron accumulation find it difficult to maintain their balance and stand still. When presented with these symptoms, medical professionals may assume the child has ADHD or behavioral issues. This mistake can have dire consequences as children with undiagnosed NBIA are more likely to suffer severe fall injuries. When doctors make mistakes that indicate the treatment they provided failed to meet accepted industry standards, they can face consequences ranging from professional sanctions to medical malpractice lawsuits.

Avoiding mistakes

Advanced diagnostic software may one day make these kinds of mistakes a relic of the past. Until that day arrives, doctors should avoid jumping to conclusions and make the most of the tools they currently have available. Patients can also do their part to prevent diagnostic mistakes by being completely open with their physicians about the frequency and severity of their symptoms. They should also ask questions about their treatment plans so they know what kind of improvements to look out for and how soon to expect them.