A Day in the Life of “Alex”

Let’s bring RORA variants to life by combining the latest research insights with human-centered experiences.

What shapes Alex’s experiences

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8-year-old girl, diagnosed with a RORA-related neurodevelopmental disorder. She has moderate developmental delays, mild cerebellar atrophy, and a history of myoclonic seizures.
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Strong auditory memory and emotional attunement — excels in music and storytelling. Determination and pride in completing daily living tasks when possible.
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Her seizures are mostly controlled with medication, but she is pharmacoresistant to some extent (meaning occasional breakthrough seizures still happen). Epilepsy risk influencing daily routines, supervision, and emergency readiness.
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She has a warm, observant personality and a strong emotional connection with family members. Ability to form strong, meaningful relationships with family, teachers, and friends.
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Fine and gross motor difficulties affecting independence in dressing, eating, and playing. Balance and coordination issues limit full participation in physical activities.
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Cognitive fatigue and processing speed issues requiring a slower-paced, highly structured environment.

A Day in the Life

A yellow school bus crossing an urban street with modern buildings and trees with orange leaves in the background. There are street signs and a bike lane on the road.

Morning

Alex’s day starts early — routines are important for helping her feel safe and calm. Her mom sings her awake, because auditory processing is a strength for Alex. It’s also a high risk time for breakthrough seizures during the transition from sleep to waking.

Getting dressed is a team effort: Alex can pick her clothes and manage her shirt, but needs help balancing to pull up her pants, because her coordination and fine motor skills are affected by her cerebellar challenges.

Breakfast is a happy time. She’s great at using a spoon independently, but liquids can be trickier — hand tremors from mild cerebellar dysfunction sometimes cause spills.

Before leaving for school, she takes her morning medications — the first of three doses per day. Her parents double-check the pill count, because missing a dose could increase her seizure risk.

A young girl wearing a blue sweater draws on a white sheet of paper with a black pencil at a wooden table. There are colored markers in a black container on the table.

School Day

Alex attends a mainstream school with a 1:1 aide for support. Academics are difficult, scoring consistently in the first percentile of development.

She loves group music time — rhythmic and repetitive activities tap into her natural strengths. Learning through visuals and song-based instructions works best for her.

Challenges crop up in the classroom:

Transitions between activities are hard — Alex can get overwhelmed without enough warning or sensory support.
Balance issues mean she tires easily during gym or playground time.
Cognitive fatigue builds faster for her than her peers; by noon, focusing becomes very difficult.

She sometimes experiences brief absence-like seizure events — quick eye-fluttering or zoning out — especially when she’s tired or overstimulated. Occasionally, she’s had a seizure lasting over 5 minutes requiring rescue medications at school, so the nurse and teaching team are always on high alert and send Alex home if she’s having a difficult day. Some classmates don’t understand why it seems like Alex isn’t listening to them or why she isn’t able to keep up in the hallway.

A young girl with blonde hair in a striped shirt stands in a field of tall, white grass, facing away from the camera, with mountains and a bright sky in the background.

Afternoon

After school, Alex goes to supplemental occupational therapy twice a week. They work on fine motor skills (like buttoning and drawing), and gross motor activities to help her balance and coordination.

She’s incredibly determined — she beams when she zips her jacket by herself, even if it takes her three tries. However, she is often exhausted by the exertion of having to work harder than everyone else.

Snack time at home is mellow. Her parents notice she sometimes stares blankly into space for a few seconds or has fluttering eyes — not dramatic seizures, but subtle signs of her ongoing neurological challenges and the risks for a significant seizure.

Person with wavy brown hair sleeping on a bed with dark brown bedding, near a window with closed blinds.

Evening

Alex loves bedtime stories, especially ones with predictable, comforting patterns (think Goodnight Moon).

Screen time is limited because overstimulation can trigger myoclonic jerks. Her family structures evenings to be calm, quiet, and predictable.

At night, Alex needs monitoring. Her family uses a seizure detection monitor under her mattress just in case she has nocturnal seizures. Most nights are peaceful — but there’s always a quiet vigilance.