Watch the story of a little girl with a rare condition which is yet to be named
A nine-year-old girl suffers from a rare condition which is yet to be named.
Nine-year-old Katie Renfroe was diagnosed with megalencephaly at birth. Megalencephaly is a growth development disorder characterized by the overgrowth of the brain.
But doctors are unable to identify the other symptoms that Katie experiences and are unable to fully diagnose her.
Katie’s mother Angie Renfroe, from Florida, 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.”
“At this point, as far as I know, no one knows anything that is wrong with her. They’ve checked her for dwarfism, they’ve checked her for so many things that I can’t even remember – but everything comes back that she doesn’t have it.”
“And if they can’t figure out what she has, they’ll just name it after Katie.”
Angie added: “Since birth, Katie has had her brain surgery, her tonsils removed, her feeding tube, they downsized her ear, her tongue, her cheeks have been downsized several times and she’s had two cysts removed off of her head.”
“So yeah, she’s had quite a few surgeries. A lot more than anyone should have had.”
Katie also suffers from seizures and is fed through a feeding tube.
Doctor Roman Yusupov – a specialist in paediatric genetics and paediatric cleft and craniofacial disorders – is monitoring her progress since she was born.
Doctor Roman Yusupov said: “I have never seen anything like it, she is truly unique and perhaps one in a million.”
“Her diagnosis is very interesting. I think she has what is known as an overgrowth syndrome in which different body parts start to increase in size.”
Despite her condition, Katie goes to a school for children with disabilities and can work on computers.
Angie said: “Katie is happy. She loves to do almost anything that any other kid can possibly do.”
“She just loves life. She also has a little devious side to her where she likes to try and booby trap the house to see if she can make us fall. And she finds it very hilarious.”
“She has emotions – if something hurts her, she’ll cry about it. If something is funny to her, she’s going to laugh about it.”