Rare Disease Day is recognized every year on the last day of February and it is meant to raise awareness about diseases that often go undiagnosed and tend to be underfunded in terms of research.

This year we’ve decided to join the effort by focusing on a disease relevant to neurodiagnostic technologists: Landau-Kleffner syndrome (LKS).

LKS is a rare form of acquired epileptiform aphasia that usually develops in early childhood. Its hallmark is a loss of language comprehension and expression, often mistaken for deafness. About 70 percent of these patients also have seizures. Most patients have severely abnormal sleep electroencephalography (EEG).

The seizures can go away, but the resultant language deficits may last a lifetime, according to the authors of this 2020 case study. Patients need lifelong support, but instead are often “set adrift in society” — with devastating consequences.

The authors illustrated untapped potential of a LKS patient by presenting the successful case of a 48-year-old woman.

The patient showed normal development patterns until the age of three and a half, like many kids diagnosed with LKS. Then, over the course of several weeks, she developed severe language impairments and stopped responding to spoken language.

Sleep EEG revealed bilateral temporal lobe epileptiform discharges and she was diagnosed with LKS at age four. The patient received anti-seizure medication and speech therapy and enrolled in a school for the deaf. She finished high school, got married, has two healthy children, and holds a steady job.

Then, 44 years after her initial diagnosis, the LKS patient underwent a full neurological examination at the request of her lawyers following a case of fraud. Physicians rarely follow LKS patients into adulthood. But, interestingly, the same neurologist that diagnosed the patient with LKS performed the evaluation decades later.

The second evaluation proved normal and she had no psychiatric abnormalities despite lasting aphasia, according to the case study.

“Her relatively successful life (education, family, employment) reflects the importance of addressing communication, behavioral, mental health and social needs, in addition to the epilepsy care,” the authors wrote.

Join us this month in helping raise awareness about Landau-Kleffner syndrome. Tell other techs about it and share this article on social media. It’s a small act that could make a lot of difference.

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