Faith, a 5-year-old girl from Ballyclare, Northern Ireland, has a rare genetic mutation that causes her to suffer from multiple diseases simultaneously. This condition is estimated to affect only over a billion people worldwide. Her mother, Rachael Duff, recounts how Faith’s condition has been challenging for both her and the medical community.
Faith was born prematurely at 30 weeks and 6 days, with blonde hair. She was immediately taken to the neonatal department at the Royal Victoria Hospital for breathing support due to a hole in her heart and a small bleed on her brain. Despite these challenges, Faith was discharged from the hospital in May, just a month before her due date. However, Faith missed almost all of the developmental milestones of a normal child. She was unsteady in her sitting position and unable to walk. Initially, doctors suspected she had cerebral palsy, but further testing ruled this out.
When performing an MRI of Faith’s spine, doctors discovered that her kidneys were swollen and her bladder was about to burst. During catheterization, they found so much wastewater that “everyone in the room was soaked.” Doctors continue to search for answers about the cause of Faith’s conditions until genetic testing results are available. According to Duff, they found out that Faith had a pathogenic variant of the congenital ELOVL1 gene that caused lower limb dystonia, stage three kidney disease, skin problems and neurogenic bladder – one of only four cases ever recorded worldwide. The girl was used as a 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 where did it come from? The doctor answered each question with “We don’t know” with a headshake.
Recently Faith’s family received some positive news – the hole in her heart closed naturally without surgery! They established a fund to meet Faith’s ongoing treatment needs as she grows up which includes physical therapy and mobility support. With this newfound knowledge and resources faith can continue living life with hope for better days ahead
+ There are no comments
Add yours