Eliot is 5 years old and is a source of joy for those around him.

Known at his school as “Mr. Smiley,” Eliot’s outgoing, mischievous personality lights up whatever room he’s in.

In 2024, the n.64_65insT variant in the RNU4-2 gene was detected in Eliot, which provided a clear diagnosis to explain his moderate global developmental delay, microcephaly, and small stature, which put him below the first percentile on the growth chart for height and weight. A fetal MRI when he was in the womb revealed reduced white matter volume, hypoplasia of the corpus callosum (thin corpus callosum), and ventriculomegaly. But besides the uncertainty that prenatal monitoring caused, his Mama had a relaxed, uneventful pregnancy.

Despite developmental delays, Eliot has shown consistent progress and can walk, with an emerging ability to run. His receptive language abilities grow stronger by the day, and he can babble. He has one consistently spoken word, three consistently signed words, lots of emerging words, and augments his communication with an AAC device.

He has good social skills, eye contact, and absolutely loves interacting with other children. One of his favorite ways of starting an interaction with someone is pointing at their shoes – once they respond, he takes it from there!

Besides getting sick a lot since starting kindergarten – he has a penchant for licking everything – Eliot’s parents usually describe him as a “happy, healthy guy!”

Eliot’s favorite things:

Swimming, books, “Ms. Rachel,” music, dancing, being silly, roughhousing, animals, bouncing his basketball (and general love of all types of sports balls).

What a normal day looks like:

• Wake up & books: Eliot enjoys an independent start to his day and usually crawls out of bed and pages through books by himself after waking up.

• Morning with family: When ready for attention, Eliot calls out with babbling and playful chirps.

• Breakfast: Eliot feeds himself once served. (Learning to use a fork and spoon, but he uses his hands currently and does it well!)

• Swim: Morning swim lesson with friends and family.

• School: Eliot’s school is great about creating a modified schedule so he can attend his therapies.

• Therapy: Speech therapy or occupational therapy after school.

• Dinner: Eliot sits at the dinner table in his supported chair so he can enjoy a meal with family.

• Bath: Eliot loves water and always looks forward to his evening bath. He actively signals at the bathroom door and bathtub when he wants his bath!

• After-dinner playtime: Reading books, watching “Ms. Rachel”, or a short walk or wagon stroll around the neighborhood. 

• Swinging: Eliot swings in his sensory swing to relax and regulate before bed.

• Bedtime and Sweet Dreams: Lullabies and nighttime routine with family