When Lili was six months old, her parents John and Natalie noticed something odd. As they approached their daughter’s crib, Lili would have a spasm. At first they wondered if she had been frightened. But when the spasms didn’t stop, their intuition kicked in — they knew something was wrong. They called Lili’s pediatrician, describing her responses as “seizure like.” This ultimately led to a diagnosis of infantile spasms that required hospitalisation to treat.
Over the next several months, Lili’s spasms became full-blown seizures. Her parents found themselves tirelessly counting the seizures, losing track of the number and type. Overwhelmed and desperate for answers, they began researching online, eventually finding a source noting that infantile spasms could potentially lead to Lennox-Gastaut syndrome (LGS). It was the first time they’d heard of the disease, and they wondered if it might be the root of Lili’s problem.
LGS is a rare form of epilepsy that affects roughly 48,000 children and adults in the U.S. It is one of the most difficult-to-treat forms of epilepsy in part because symptoms can evolve over time, masking the signs needed to confirm a diagnosis. Children often experience behavioral issues, such as irritability, an inability to solve problems and attention-seeking behavior. Up to nearly two-thirds of young children with LGS may also show signs of developmental delay before the first onset of seizures.
Typically, doctors look for three signs to confirm a diagnosis: multiple types of seizures (which can include tonic, atonic or drop), developmental delays and abnormal results from an EEG — a test that assesses brainwave patterns.
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