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When a rare disease is misdiagnosed

On Behalf of | Nov 14, 2022 | Medical Malpractice

Sometimes, a misdiagnosis can come from poor information off of the internet. Other times, it is an Idaho doctor who misdiagnoses you. No matter what, it’s always worth it to ask for a second opinion.

When the right answer isn’t obvious

Because of how rare some types of diseases are, very few doctors will naturally connect their corresponding symptoms with that rare disease simply because that’s not what they’ve come to expect. This is especially true if there’s a more common solution that would be a much simpler match for the presented symptoms.

The issue of misdiagnosing rare diseases is compounded by overburdened doctors. The crowded nature of the medical system make it all too easy for patients with unusual cases to slip through the cracks. These individuals may end up with an ineffective treatment while the real disease is allowed to persist, likely at the detriment of their health.

With these rare cases that may lead to medical malpractice, genetics comes into play more often than with commonplace health problems. They may also be the result of an infection, weakened immune system, or a bad reaction to treatment. The latter example is on the most extreme side of rare but has still been known to happen.

Some common misdiagnoses

Anti-NMDA receptor encephalitis goes by another name as well: brain on fire disease. it comes with unusual symptoms including erratic emotions, strange body movements and unnatural bodily movements.

In some cases, this may be mistaken for mania and depression for which the patient would only be given a prescription for an anti-psychotic medication. A neurologist may see those kinds of symptoms and think that it’s alcohol withdrawal.

Autoimmune hemolytic anemia may be errantly diagnosed as organ problems or cancer. NBIA (neurodegeneration with brain iron accumulations) has been misdiagnosed as ADHD when the patient showed symptoms of poor balance.

Sometimes, the best test for a rare disease is an unusual one. This is certainly the case with one test for anti-NMDA receptor encephalitis, in which the patient is asked to fill in numbers on a clock. If they put all the numbers on one side, it’s a sign that it may be brain on fire disease.