When Emmery was 9 months old, her parents started taking her to Physical Therapy because she wasn’t sitting up on her own yet, and her neck wasn’t quite as strong as expected. She hit most of her milestones on the later end of normal, while her twin brother was hitting them early. She quickly graduated from PT.

At 10 months, her parents noticed one of her eyes occasionally crossed, and she was prescribed glasses. She began crawling and pulling up, and her parents were so glad as they thought this was the solution to her delays.

At 16 months, Emmery saw a Developmental Specialist who suggested she was just a little behind for her age and nothing was of concern.

At 19 months old, Emmery visited a Geneticist who initially believed nothing to be wrong but decided to conduct tests for confirmation. Initial tests returned normal results, prompting a recommendation for Whole Genome Sequencing. However, the family’s insurance initially refused coverage, leading to an eight-month struggle with the insurance company.

By 22 months, a Neurologist suspected a genetic disorder and supported the need for Whole Genome Sequencing. With the Neurologist’s assistance, Emmery’s family continued and ultimately won their fight with the insurance company. Finally, on February 8, 2022, Emmery received a diagnosis of KIF1A Associated Neurological Disorder.

Everyone agrees that Emmery is so strong, brave, and tough as she goes to multiple therapies every week and multiple doctor appointments every month. She works so hard and is extremely motivated. There’s nothing better than seeing the huge smile on her face after she’s accomplished a new task. Emmery is truly an inspiration to everyone.