Nine-year-old Katie Renfroe with an oversized brain was suspected to have megalencephaly but remains undiagnosed!
Katie was diagnosed with Megalencephaly- a growth development disorder which causes overgrowth of the brain at birth. But after examining her other symptoms, doctors are convinced it is not what she has.
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The girl suffers with seizures and cannot talk or eat by herself. She has a feeding tube attached to her, though she can occasionally drink if she wants to.
Having been through several surgeries including ear and tongue downsizing, tonsils removal, more than one cheek downsizing. Along with a major brain surgery at the mere age of nine months, her family hopes for a diagnosis. She has also had two cysts removed off her head so far.
Angie, Katie’s mother says that she was six months pregnant when she found out her daughter was going to have megalencephaly. She does not know what her condition is called yet. The only thing the doctors surgically remove from her face is something like fatty tissue.
The specialists have checked her for dwarfism and many other diseases but have failed to get a positive result. Angie tells us that if the doctors remain unable to diagnose her, they will name it after her.
When Katie was born, her family travelled to Hollywood, Florida to visit Doctor Roman Yusupov– a specialist in pediatric genetics and pediatric cleft and craniofacial disorders. Unfortunately, he, too, was unable to diagnose the infant but 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.
“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 is as energetic and lively as any other kid her age.
She goes to school for children with disabilities and is able to get along with other kids and use computer with the help of her favorite teacher.
Living in a beautiful and big family, Katie never feels deprived of love or care. She has seven biological brothers and sisters plus step siblings. Her siblings are getting used to her condition and are hopeful she will get better. Her elder sister, Megan who is 18-years-old says, “I think the best thing about Katie is her personality – she’s very outgoing and wild. She has an amazing laugh!”
Her mother feels extremely proud of the way her daughter takes all of it. She will cry if something hurts her and laugh if she finds something amusing. Also, she has a devious side where she will booby trap the house to see if she can make others fall.
Angie said, “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.
“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.”