New hope for British woman with 238 pound legs
Rare, one-of-a-kind disease may be treated with DNA mapping
Thirty-eight-year-old Briton Mandy Sellars has a rare disease that has made her legs grow freakishly huge, weighing 238 pounds by themselves. Now doctors say they have developed a promising treatment for her after mapping her DNA.
Incredibly difficult for her to move around, Mandy Sellars is housebound during the week. She travels in a specially reinforced wheelchair.
Her condition is unnamed, following genetic testing. Her case is the first case of its kind in the world.
Incredibly difficult for her to move around, she is housebound during the week. She travels in a specially reinforced wheelchair.
Doctors had hoped to fit her with a prosthetic leg but as her stump kept growing, new legs had to be made and to date she is still unable to walk.
"I find it incredibly frustrating," Sellars, from Huncoat in Lancashire says. "I have such a zest for life and I really want to get out there and live it."
Scientists at Cambridge University took an interest in Sellars' case, and over the past year, Dr. Robert Semple has mapped her DNA from blood and tissue samples.
Sellars previously thought she had a rare form of Proteus Syndrome, the condition that affected the Elephant Man. However, the analysis revealed she had a unique disorder.
"I'm the first person in the world with it and it hasn't even got a name yet," she told a TV chat show. "I keep suggesting Dr Semple call it Sellars Syndrome!"
Dr. Semple's team has come up with a medication aimed at replacing her unique mutated gene with a therapeutic gene. "I started taking it in September and the aim was to stop my limbs growing further. Actually they have started to shrink a little," Sellars said.
"I just kind of accepted my condition would get worse and keep growing but I am more optimistic following the discovery."
A size 12 on her top half, Sellars has had to deal with her one in seven billion conditions her entire life.
"There was clearly something dramatically different about me when I was born as my legs were so much bigger than my body. Doctors didn't know what it was and whisked me away - they didn't let my mother see me for two weeks. They didn't think I would survive."
Despite of all of her hardships, Sellars remains optimistic. "I really miss travelling and I hope one day to walk again," she said. "I'm stubborn enough to make it happen!"
© 2014 - Distributed by THE NEWS CONSORTIUM
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