It is now known what causes Proteus Syndrome

Source: Bexhill Observer Online
Proteus Syndrome is a devastating condition which causes unequal growth – in 16-year-old Jordan Whitewood-Neal’s case it affected bone tissue to the extent he needed both legs amputated.
American scientists have now found its caused by a mutation in a gene which produces a protein that helps regulate cell growth – in patients like Jordan this is an abnormal protein which causes increased cell growth and proliferation.
Jordan’s mother Tracey found out about the breakthrough back in April when she was told she would be named as one of the authors of the report to be made public in the New England Journal of Medicine last week. She was given this honor because the family helped raised nearly $17,000 towards the research.

“Obviously I was really excited,” said Tracey, of Watermill Close in England. “But I was then very frustrated not to be able to tell anybody. The only people who knew were my husband, Jordan and myself. We were sworn to secrecy.”

Tracey was invited to take part in a press conference on Wednesday July 27 and gave her statement which she found “nerve-racking”. She told the Observer: “Once they have found the genetic cause it means they can move on to trying to find the treatment. Obviously you can’t reverse what Proteus Syndrome has done to someone, but the hope is to stop it getting any worse in the body.
“Medical developments can take 10 years but they have already indentified this gene in some cancers so some of the preliminary work has been done, and already an approach has been made by a pharmaceutical company interested in working towards finding a treatment.
“This is especially important for younger kids that are affected by Proteus, so young that Proteus hasn’t got a grip on them yet. The hope is to find something to stop it causing so many devastating effects.”
Jordan also agreed it was “quite hard” not to be able to tell anyone the news until now.
He said: “I think it’s really good – it’s worth all the research they have done. A lot of people gave themselves to it and gave a lot of money too. It is nice to know it was all worth it. They can find out about a cure or treatment. And it is good to know I can help.”

Tracey said: “For me and other families, this is so much more than a scientific breakthrough. This is personal and this is real. This is the light at the end of the tunnel and the glimmer of home we’ve been wait for all these years.”

Jordan has left Bexhill High and is getting ready to study for his International Baccalaureat in Hastings. His dream is to become an architect, and he is hoping to go to Bath University to do this – in the meantime Tracey is trying to find a new Apple Mac computer for him to start designing on and learning the tools of his future trade.

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