I Can Still Make the Whole Place Shimmer

Program: CLCN7

Emersyn’s Story:

Emersyn is the youngest of 4 children. She was and has remained a surprise even before being born. The first sign of something wrong appeared in a 33-week fetal growth and well-being scan when Emersyn measured small, and all of her long bones measured short. Her family decided to wait for genetic testing until after Emersyn was born.

When Emersyn was born in February 2021, she shocked everyone with her bright white head of hair and a tiny dimple/indentation on her forehead. After 20 hours with feeding difficulties, Emersyn was transferred to a children’s hospital, and then to an even bigger hospital (one we would eventually become very familiar with) and neonatal intensive care unit where she was able to get her foot in the door with her eventual geneticists. Emersyn has spent the majority of her first 2 years being poked, imaged, and tested. After two normal genetic panels, she had a whole exome sequencing test performed that revealed a CLCN7 diagnosis. Soon after, it was revealed that Emersyn is only 1 of 3 known cases in the world and, at this point, the only living case.

From November 2021 – August 2022, Emersyn spent all but 80 days (about 2 and a half months) in the hospital and multiple weeks in the ICU. Her family is thankful to have her home as much as possible. Although, they know she is extremely loved in the hospital – her second home.

Despite everything Emersyn has been through, she is extremely happy! Emersyn loves playing with her 3 older siblings on the floor and sometimes forgets that she is not an only child. Emersyn loves all things Ms. Rachel, Taylor Swift music, or anything that you can dance to.