Mariah & Nicholas welcomed their son Luca William into the world on 10/7/2021. He’s the happiest little guy and brings so much sunshine to their world.

2022 started with excitement for milestones like Luca sitting, crawling, and walking…but the year went a bit different.

In May 2022, at 7m old, Luca was diagnosed with global developmental delay and hypotonia. He was behind in his gross & fine motor skills and had to start Physical and Occupational Therapy.

July 20th at 9m old Luca started having seizures and was sent to the Arnold Palmer Hospital for Children in Orlando. He was admitted for 3 days where Luca had his first 24hr EEG and an MRI and they confirmed seizures that most likely began around 5m old.

Since being diagnosed with seizures, Luca has failed 3 anti-seizure medications, had 2 additional EEGs, a lumbar puncture, blood work, and 2 rounds of genetic testing with no relevant results.

Luca start a medically supervised ketogenic diet on December 12th in hopes of reducing seizures & helping development.

The next step in helping Luca is performing a Full Exome Sequencing.

This is a cheek swab on Luca, Mariah, and Nicholas that checks 85% of all disease-causing genetic variants.

A Full Exome Sequencing can help Luca by providing a specific diagnosis, providing more information on specific genes to check into, or ruling out genetic conditions.

A Full Exome Sequencing will cost the family $4,000 out of pocket.

There are a few grants they are applying to in hopes of receiving some funding, but another way to help is by donating directly.

Luca is such a happy little guy and Mariah & Nicholas are some of the nicest people you'll meet! They appreciate any help they receive!