Shrinking my 17stone legs: Hope for woman whose limbs wouldn't stop growing after doctors develop pioneering treatment
- Mandy's condition has caused her legs to grow uncontrollably her whole life
- DNA study revealed it is the first known case of its kind in the world
- Cambridge doctors have developed a medication they hope will reverse it
Doctors have told a woman whose legs won't stop growing that they have developed a promising treatment for her after mapping her DNA.
Mandy Sellars, 38, has a condition that has caused her legs to grow uncontrollably her whole life.
She even had her massive left leg amputated after it became infected with septicaemia. But the stump soon started growing again and within three years measured a metre in circumference and weighed 3stone.
Ms Sellars has now been told it has no name after genetic testing revealed it was the first case of its kind in the world.
The condition makes it incredibly difficult for Mandy to move around and she is housebound during the week. She travels in a specially reinforced wheelchair.
'I find it incredibly frustrating,' Ms Sellars, from Huncoat in Lancashire, said.
'I have such a zest for life and I really want to get out there and live it.'
This could now be a possibility, after scientists at Cambridge University took an interest in Ms Sellars' case.
Over the past year, Dr Robert Semple has mapped her DNA from blood and tissue samples. Ms Sellars' presumed 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,' Ms Sellars told ITV's This Morning.
'I keep suggesting Dr Semple call it Sellars Syndrome!'
As a result, Dr Semple's team have 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,' Ms Sellars' said.
'I just kind of accepted my condition would get worse and keep growing but I am more optimistic following the discovery.'
Ms Sellars, who is a size 12 on her top half, has had to deal with her one in seven billion condition her whole 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.'
Her left leg was three inches longer than her right, and both were out of proportion. But Mandy flourished despite their dire prognosis.
'I could walk around and play football as a child,' she said.
'I had friends and went to a comprehensive school for my GCSE's. But I found it harder to deal with as a teenager as you become more aware. Some people would stare and laugh at me. I find that easier to deal with now.'
Her parents encouraged her to be independent and she moved out of home at 19. She went to the University of Central Lancashire where she gained a BSc in Psychology.
She has volunteered in the past at the RSPCA but had not been able to work full-time due to her health condition. She has suffered arthritis, deep vein thrombosis (DVT) and had a blood clot in her leg.
The condition makes it incredibly difficult for Mandy to move around and 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.
Mandy Sellars, pictured on This Morning in her electric wheelchair, said she has a 'zest for life'
'I have such a zest for life and I really want to get out there and live it.'
This could now be a possibility, after scientists at Cambridge University took an interest in Ms Sellars' case.
Over the past year, Dr Robert Semple has mapped her DNA from blood and tissue samples. Ms Sellars' presumed 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,' Ms Sellars told ITV's This Morning.
'I keep suggesting Dr Semple call it Sellars Syndrome!'
As a result, Dr Semple's team have 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,' Ms Sellars' said.
'I just kind of accepted my condition would get worse and keep growing but I am more optimistic following the discovery.'
Ms Sellars, who is a size 12 on her top half, has had to deal with her one in seven billion condition her whole life.
Ms Sellars with the medication she hope may reverse her condition
Dr Robert Semple studies Mandy Sellars over-sized right leg. He mapped her DNA and found out her condition was unique to her
Her left leg was three inches longer than her right, and both were out of proportion. But Mandy flourished despite their dire prognosis.
'I had friends and went to a comprehensive school for my GCSE's. But I found it harder to deal with as a teenager as you become more aware. Some people would stare and laugh at me. I find that easier to deal with now.'
Her parents encouraged her to be independent and she moved out of home at 19. She went to the University of Central Lancashire where she gained a BSc in Psychology.
She has volunteered in the past at the RSPCA but had not been able to work full-time due to her health condition. She has suffered arthritis, deep vein thrombosis (DVT) and had a blood clot in her leg.
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