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|Author:||Leaver [ Sat Aug 30, 2008 2:21 pm ]|
|Post subject:||flaw in his DNA|
Doctors halt growth of seven-foot boy Brenden Adams
Doctors have successfully intervened to stop a 12-year-old boy who is already 7ft 3ins tall from growing any more.
By Jacqui Goddard in Miami
Last Updated: 12:45PM BST 30 Aug 2008
Brenden Adams is so lofty that he has to stoop to get through doorways Photo: Daily Record
Because of a unique genetic anomaly, Brenden Adams is so lofty that he has to stoop to get through doorways, barely fits in his mother's car and dangles uncomfortably over normal sized beds.
Doctors who spent years puzzling over the cause of his runaway growth have now succeeded in slowing its pace, declaring Brenden the only known case of his kind in the world.
"We were concerned that he would continue growing and there'd just be no stopping it," said Dr Melissa Parisi, a geneticist at Seattle Children's Hospital, who has been seeing Brenden since he was four years old.
"He really is a remarkable young boy. He's unique."
Brenden's condition caused by a flaw in his DNA: part of his 12th chromosome inexplicably broke away during embryonic development, flipped itself and then reattached upside down, disrupting a gene that helps to control growth and causing his bones to elongate to extreme proportions.
Dr Gad Kletter, an endocrinologist at Seattle's Swedish Hospital, treated him with high doses of testosterone to prompt the early onset of puberty, accelerating the process by which the growth plates that sit at each end of human bones naturally close themselves off. Brenden has not grown any more for six months.
"Before treatment, he was on a trajectory that was still taking him up and up, rather than reaching a plateau. Plotting his growth curve, we think he would have been over eight feet now," said Dr Parisi.
At birth, there seemed nothing out of the ordinary about Brenden, who weighed in at 7lb 3oz and measured a regular 19.5 inches.
"But at his two month check-up," said his mother, Debbie Ezell, 40, "the doctor kept re-measuring and said 'Something's just not right, he's way too big for his age, too long.' At four months, he got all his teeth at once and they were like, 'OK, something's going on here.'"
By the age of eight, his height was that of an average 15-year-old and his head circumference the equivalent of a grown man's. "Sometimes he would grow several inches a month," his mother recalls.
She is thankful that they live in a small town - Ellensburg, in Washington state - whose community has rallied around and where Brenden has built up a circle of supportive friends and teachers who barely bat an eyelid at his towering height.
His condition brings with it other more troubling medical issues; fatty tumours, including one on his brain, painfully enlarged joints, bleeding problems and a heart condition. These mean his long-term outlook is uncertain.
"He was happy as a baby and he's happy now," said Mrs Ezell. "You can see pain on his face when he's struggling, but he doesn't want anybody to know, he just deals with it."
When a charity offered to grant him a wish, he asked for a bicycle big enough for him to ride without his knees cramping in pain. Doors and ceilings have been built higher at his home, friends and neighbours raised funds to help pay for a custom-made bed, and his mother has spent hours trawling the internet for affordable, over-sized school clothes.
"The hardest part is just not knowing what the life expectancy is," said Mrs Ezell. "But it's truly Brenden that keeps everyone on the positive side. If he's not here in a couple of years, we'll look back and think 'Yes, but when he was here, wasn't it good?'"
http://www.telegraph.co.uk/news/newstop ... Adams.html
|Author:||Mel [ Sat Aug 30, 2008 2:58 pm ]|
|Post subject:||Re: flaw in his DNA|
Fascinating and amazing that they were able to stop his growing but how do they know the chromosome broke away and wasn't just defective?
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