Five-Year-Old Faith: A Rare Case Study of Congenital ELOVL1 Gene Mutation

Five-year-old Faith is a rare case of a genetic mutation that causes multiple diseases at once. This condition is only known to affect over a billion people worldwide. Born prematurely in April 2018, Faith had blonde hair and was immediately taken to the neonatal department at the Royal Victoria Hospital for breathing support. She had a hole in her heart and a small bleed on her brain, but she recovered and was discharged from the hospital before her due date.

However, after 18 months, Faith missed almost all developmental milestones of a normal child. She was unsteady in her sitting position and unable to walk. Initially, doctors suspected Faith had cerebral palsy, but further testing ruled this out. The MRI revealed that her kidneys were swollen, and her bladder was about to burst. The catheterization resulted in everyone in the room being soaked due to the amount of wastewater produced by Faith’s body.

In October 2020, Duff received a call from the doctor with devastating news: they found lymph nodes in Faith’s abdomen that they initially suspected were tumors. However, testing continues to rule out this possibility. Doctors still don’t know the cause of Faith’s series of conditions until genetic testing results are available. According to testing, Faith has a pathogenic variant of the congenital ELOVL1 gene that causes lower limb dystonia, stage three kidney disease, skin problems and neurogenic bladder. There are only four cases similar to Faith ever recorded in the world, making her an essential case study called “Child A.”

Upon receiving the diagnosis, Duff asked three questions: How would Faith’s condition develop? Would it affect her life expectancy? And who did it originate from? “For every question,” Duff said, “the answer from the doctor was ‘We don’t know’ with a shake of their head.” Recently, however