ADDI LEWIS & BEAR

Addilyn Lewis is a seven year old who loves swimming, the beach, basketball, and gymnastics, but is just as happy burning off a creative burst in her room with a project like making bracelets. Addi lives with her dad George, her mom Beth, her older brother, her younger sister, and their cockapoo Penelope.

Addi has mutations of her KCNT1 and NPRL2 genes that cause both focal aware and generalized (tonic-clonic) seizures. Her mother and sister share these rare genetic mutations and also have epilepsy but have only experienced generalized seizures. Addi’s first generalized seizure happened when she was three years old and she gets regular EEGs to monitor her epilepsy. The generalized seizures have worsened with each of Addi’s growth spurts, but even more alarming was the development of focal seizures beginning a year ago in September 2019 with a cluster of focal seizures interspersed with generalized seizures. Five days of monitoring in the hospital confirmed that it was an entirely new kind of seizure that Addi hadn’t been experiencing before.

Addi’s generalized seizures last from 45-105 seconds and known triggers include a variety of regular life events such as fewer than 10 hours of sleep, growth spurts, and significant stress or anxiety. It’s expected that hormonal fluctuations that arrive with puberty will also trigger generalized seizures. These seizures happen irregularly and less frequently than the focal seizures, but are significant for Addi’s health because she falls when they begin and she stops breathing if they last longer than about 75 seconds. Seizures seem to be more intense if she hasn’t had one recently. After a seizure, Addi is disoriented, may be missing time, has decreased appetite, is an “emotional wreck”, and is often disappointed in herself for having the seizure. She sleeps heavily after a seizure, and may be quiet for a while followed by a burst of energy. She also seems to have short-term memory loss for up to 48 hours after a generalized seizure.

The focal seizures, on the other hand, happen in clusters 2-4 times a week. These seizures last 5-7 seconds and are characterized by a mild head drop, muscle tension and flexing, freezing, staring, and an audible exhalation (a “huff”) as the seizure ends. Addi is awake during them but not aware she is having them. She rarely falls during focal seizures. The seizures cluster and at times Addi may have a seizure every 15 seconds continuing for over a day, with EEG monitoring showing nearly constant neurological activity. If uncontrolled, the focal seizures can cross over and become generalized seizures.

Because Beth has the same genetic mutation and has had generalized seizures since childhood, she has a likely map for how Addi’s generalized seizures may develop. Beth has long-term memory loss and thinks this is a possible outcome for Addi given her postictal short-term memory loss.

Addi has no prodromes for either type of seizure. She is on medication to control her seizures. Management techniques the family uses include keeping Addi on scheduled meals so they are aware when she starts eating more as she enters a growth spurt, and ensuring she gets at least 10 hours of sleep a night. The sleep can be difficult because if Addi wakes in the middle of the night she sometimes decides she is done sleeping and watches television! Partly for this reason she often sleeps in her parents’ room for at least part of the night.