Nine-year-old Katie Renfroe suffers with a condition so rare that it doesn’t even have a name. She was diagnosed with megalencephaly at birth, a growth development disorder characterised by the overgrowth of the brain. But that diagnosis does not explain the other symptoms that the little girl experiences and doctors have said her mystery condition is so rare, they are unable to identify it.

Katie’s mother Angie Renfroe has been awaiting a full diagnosis of her daughter ever since her birth and doctors have started to discuss the possibility of naming the unknown condition after Katie. The Florida resident said: “Katie is very rare – she has not been diagnosed with anything and they’re still trying to find out what she has. “We found out when I was about six months pregnant with her that she was going to have megalencephaly - a growth development disorder where an infant’s brain is abnormally large. But I do not know why her face is the way it is - I do know that when she has surgeries the only thing they move from her face is like fatty tissue.”

When Katie was first born, the family traveled to Hollywood, Florida to visit doctor Roman Yusupov – a specialist in pediatric genetics and pediatric cleft and cranio-facial disorder. But unfortunately, he was unable to diagnose Katie and has continued to monitor her progress since then. He said: “I have never seen anything like it, she is truly unique and perhaps one in a million.” Despite her disadvantage, Katie goes to a school for children with disabilities – but she is able to work on the computers and of course get involved in circle time with the help of her favorite teacher.

While Katie did indeed show symptoms of megalencephaly (also known as macrencephaly), she also exhibited signs nobody had ever observed or noted in an infant before, leaving doctors baffled and her parents worried. Her entire head and face are far, far larger than other nine-year-old children, and extra skin grows on top of her cheeks, giving them that mottled brown look.

There are other symptoms, too. Beside the obvious facial deformities, Katie can neither walk nor talk, and she suffers from seizures of varying intensity. While the brave little girl has undergone numerous surgeries over her short life – starting with brain surgery at just 9-months-old.

The result? While Katie has been tested for every condition and syndrome under the sun, including dwarfism, doctors still have no idea what she has. Most believe they’re witnessing a brand new condition, and predict that this one will eventually be named after Katie.

Also one in a million? And she is never short of care at home, coming from a large family with seven biological brothers and sisters plus step siblings. Watch the video to see how Katie’s parents and numerous brothers and sisters handle her condition and her uncertain prognosis, and get her through every day smiling and happy. If you have a similar story, don’t forget to share it with us!

Videographer / director: Ryan Vanderploeg

Producer: Danny Baggott, Ruby Coote

Editor: Jack Stevens