Nine-year-old Katie Renfroe has baffled doctors with a condition so mysterious it may be named after her.
When Angie Renfroe was 6 months pregnant she was told her baby had megalencephaly, a growth disorder characterized by an abnormally large, heavy, and usually malfunctioning brain and head.
But that still didn’t explain Katie’s others conditions. The nine-year-old girl from Florida cannot walk or talk, suffers from seizures, has had numerous surgeries, only eats pureed food–usually through a tube, and her facial features remain a mystery—leaving doctors unable to provide a complete diagnosis for her rare condition.
“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,” her mother Angie told Barcroft TV.
“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,” she added.
“Katie is very rare – she has not been diagnosed with anything and they’re still trying to find out what she has. And if they can’t figure out what she has, they’ll just name it after Katie,” said Angie.
Shortly after Katie’s birth, her family visited pediatric genetics and craniofacial disorder specialist, Dr. Roman Yusupov, in Hollywood, Florida hoping he could provide them with answers.
But although he was not able to diagnose the little girl, he believes Katie has some sort of overgrowth syndrome caused by rapid division of muscle and soft tissue cells that’s made her head and brain more than twice the average weight and size.
He said: “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: Hypertrophy.”
“I have never seen anything like it, she is truly unique and perhaps one in a million,” Dr. Yusupov has been monitoring her progress ever since.
The little girl has had more surgeries than any child should have had, the first of which when she was only nine months old.
“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,” said Angie.
But despite her numerous challenges, Katie makes the most of what she has, which includes a big supportive family of seven biological siblings plus step brothers and sisters, so the little girl is never short of playmates or caretakers.
Katie also has a fun bubbly personality.
“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,” Angie said of her mischievous daughter.
As Katie’s condition remains undiagnosed, her family doesn’t know what her future holds.
“[We] never know how long she is going to live. Like, no one expected her to even come home and she is 9 now. So, that’s crazy,” said big sister Meghan Renfroe, 18. Meghan said the best part about her little sister is her personality. “She has an amazing laugh.”
“I really think that her future is going to be as happy as we can possibly make it and as content as we can possibly make her. We can have the darkest days in the world, but she’ll just laugh or smile and it gives us so much. She just makes us happy.”