The girl has an extremely rare disease, 'one in a billion'

Little girl Faith , 5 years old, has a rare genetic mutation that causes her to suffer from many diseases at the same time, considered a case that only occurs in one billion people.

The baby's mother, Rachael Duff , who lives in Ballyclare, Northern Ireland, said the baby is using a wheelchair, has stage three kidney disease and an ineffective bladder. Because so little is known about this condition, doctors cannot predict what will happen as Faith grows older.

Little girl Faith, 5 years old, possesses a rare gene that causes her to suffer from a series of diseases. (Photo: Rachael Duff)

Faith was born prematurely in April 2018, at 30 weeks and 6 days, with blonde hair. As soon as she was born, she was taken to the neonatal department at the Royal Victoria Hospital for breathing support. Faith had a hole in her heart and a small bleed on her brain, but she did well and was discharged from the hospital in May, a month before her due date.

18 months later, she missed almost all the developmental milestones of a normal child. Faith was unsteady in her sitting position and unable to walk. Initially, the doctor suspected Faith had cerebral palsy, but the CT scan results ruled out this possibility.

"The baby's upper half of her body seemed disconnected from the lower half of her body. The doctor did an MRI of her spine and discovered that her kidneys were swollen and her bladder was about to burst ," Duff recounted.

When performing the catheterization, the amount of wastewater was so much that "everyone in the room was soaked."

Some time later, Duff received a call from the doctor, something that still haunts her to this day. The medical team found lymph nodes in Faith's abdomen , which they initially suspected were a tumor. However, testing continues to rule out this possibility. Doctors still don't know the cause of Faith's series of conditions, until the results of genetic testing are available.

According to testing, Faith has a pathogenic variant of the congenital ELOVL1 gene, which is extremely rare, causing lower limb dystonia, stage three kidney disease, skin problems and neurogenic bladder. The report shows that there are only four cases similar to Faith ever recorded in the world. The girl was used by experts as a case study, called "Child A".

Upon receiving the diagnosis, her parents asked three questions: How would Faith's condition develop, would it affect her life expectancy, and who did it originate from?

"For every question, the answer from the doctor was 'We don't know' with a shake of the head,"' Duff said.

The experts emailed the young mother a link to a medical journal, loaded with heavy knowledge and new concepts. However, the information is not available on Google, there is no parent forum or support group on Facebook.

Recently, her family received good news, the hole in Faith's heart closed naturally and without surgery. They established the fund to meet Faith's ongoing treatment needs, including physical therapy and mobility support as she grows.