MEDICAL MYSTERY
‘Happy and outgoing’ little girl is battling a condition so rare it has no name – so it may be named after her
Katie Renfroe has been tested for countless conditions, including dwarfism, but all have come back negative
LITTLE Katie Renfroe is a medical mystery.
The nine-year-old suffers a condition so rare it doesn't have a name.
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Her situation is so unique, experts are considering naming the disorder after Katie.
When she was born her parents were prepared for their baby girl to be different.
At six months pregnant, medics detected Katie was suffering megalencepahly, a growth development disorder that affects the brain.
But, while that is part of her diagnosis, it does not explain other symptoms the nine-year-old experiences.
Angie Renfroe, Katie's mum, has been waiting for an answer since her daughter was born, but still doctors are no closer to knowing the true extent of Katie's condition.
Angie, who lives in Florida with her family, said: “Katie is very rare – she has not been diagnosed with anything and they’re still trying to find out what she has.
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“We found out when I was about six months pregnant with her that she was going to have megalencephaly.
“But I do not know why her face is the way it is."
Katie has undergone a series of operations to remove fatty tissue from her face.
Katie is very rare – she has not been diagnosed with anything and they’re still trying to find out what she has
Angie Renfroe, Katie's mum
But, mum Angie said doctors still don't know why her face is deformed.
She's been tested and checked for dwarfism, as well as countless other conditions.
"But everything comes back telling us she doesn't have it," Angie said.
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“And if they can’t figure out what she has, they’ll just name it after Katie.”
Katie suffers with side effects including seizures where she is unable to walk and talk and she also has to be fed through a feeding tube.
When Katie was first born, the family travelled to Hollywood, Florida to visit doctor Roman Yusupov – a specialist in paediatric genetics and paediatric cleft and cranio-facial disorders.
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.
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“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.”
Due to Katie’s condition, she has endured numerous surgeries throughout her life including brain surgery at just nine months old.
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Angie said: “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 attends a school for children with disabilities – but she is able to work on the computers and get involved in group activities such as "circle time" with the help of her favourite teacher.
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And she is never short of care at home, coming from a large family with seven biological brothers and sisters plus step siblings.
Katie’s sister, Megan Renfroe, 18, said: “I think the best thing about Katie is her personality – she’s very outgoing and wild.
"She has an amazing laugh!”
Angie added: “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.
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“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.”
As Katie’s condition remains undiagnosed, her future prognosis is unknown.
“She just makes the most of what she has and I don’t really think that she knows a difference, she wakes up and that’s who she is,” Angie said.
“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.”
