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Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare disorder of the connective tissue, in which fibrous tissue (including muscle, tendon, and ligament) is ossified and slowly turned into bone. This occurs when the fibrous tissue is damaged and is replaced with bone tissue, because the body's repair mechanism is mutated. These bony growths occur painfully and slowly over a period of weeks or months, and usually begin in the upper back and shoulders. FOP bones are not usually removed with surgery because that causes the body to "repair" the area of surgery with more bones. Over time, as more FOP bones grow and joints get stiffer, it becomes more difficult to walk, eat, and even breathe. more...

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Children born with FOP have a characteristic shortening of the great toe. Their first "flare-up" that leads to the formation of FOP bones is usually before the age of 10. Sometimes after a flare-up is over there is no new noticeable FOP bone. It is important that people with FOP do not participate in strenuous activity, and they should try to avoid falling or getting bruises, because those things can cause more FOP bones to grow. People with FOP should never allow anyone to try to stretch out their joints or bend them more than they can go on their own. However, sometimes flare-ups happen for no apparent reason, so being careful is not a guarantee of health.

FOP is caused by an autosomal dominant allele on chromosome 4. There have been fewer than 200 cases reported, but a study found that it affects approximately 1 in 1.64 million people. Most cases are caused by spontaneous mutation in the gametes, because most people with FOP cannot have children. However, the allele has varying expressivity, but complete penetrance (i.e. it always affects the bearer, but its effects are variable). A similar, but less catastrophic disease is Fibrous dysplasia, which is caused by a postzygotic mutation.

Sources

  • The International FOP Association
  • "Fibrodysplasia ossificans progressiva" eMedicine
  • "Fibrodysplasia ossificans progressiva" WebMDHealth

Read more at Wikipedia.org


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Jamie's treat for Louise
From Sunday Mirror, 2/8/04 by LUCY CHRISTIE

TV CHEF Jamie Oliver cooked up a meal for a seriously ill Scots schoolgirl - and made her dream of meeting him come true.

Ten-year-old Louise Wedderburn of Aberdeenshire suffers from a rare genetic disease which is turning her body's muscle into bone.

But she refuses to give in to the condition and wants one day to be a top chef like her idol.

Jamie was so impressed by her courage he invited her to London to eat at his now-famous restaurant Fifteen. And to make her feel at home, he donned a tartan apron.

He showed Louise round his kitchens then got her to help him make one of his recipes. And Louise's amazing day ended with her and her family being waited on as VIP guests of the swish eatery.

Jamie, a father of two, said: "She was a little shy but has a beautiful smile. I hope she keeps on smiling. She really enjoyed the salad I made for her, so she can come back any time. If she's ever in the area she should pop in for breakfast. I'd be delighted to see her again."

Louise's granny Valerie Duthie said: "Louise was so excited. She never thought she'd ever get the chance to meet Jamie.

"When we got into the restaurant she screamed 'It's really him'. Jamie was out of this world. He made Louise feel like a million dollars.

"He acted like they had known each other all their lives. He was attentive, warm and caring.

"I think he was impressed by her knowledge of cookery. She is always bossing me about in the kitchen, giving me tips from his shows. She loves fresh herbs, and I've got into trouble from her in the past for cutting basil instead of ripping it as Jamie does."

Louise, from the village of Rosehearty, said: "Jamie was so nice - he was just like he is on the TV.

"He cooked some amazing food for us and went out of his way to make us welcome. I'll never forget the day."

Louise was born with Fibrodysplasia Ossificans Progressiva (FOP), a condition caused by a rogue gene.

It means ribbons of bone are forming through her body, gradually growing into a second skeleton.

Her left arm is locked at the elbow and she can only turn her head by moving her whole body. Effectively, say doctors, she is now a prisoner in her own body. Louise is one of only two known cases in Scotland and 400 around the world. At the moment there is no cure, but she is fighting the illness every step of the way.

She became a big fan of Jamie through watching him on the Naked Chef TV show and his Sainsbury's ads. Her family wrote to the Make-a- Wish foundation and asked it to arrange a meeting with the chef.

Jamie found a gap in his busy schedule and invited Louise, sister Samantha (11), mum Ciona and granny Valerie to join him.

Louise, who knows all Jamie's recipes and catchphrases, asked him to make her the "sexiest salad in the world". He wasted no time in rustling up the dish, consisting of buffalo mozzarella, parma ham and fresh peaches.

The family, who were seated in a special area of the diner reserved for VIPs, then chatted with Jamie as he signed cookbooks.

He also gave them a tour of the kitchen and, after their slap-up meal, they went with him to a studio as he filmed for American TV.

Valerie said: "Her pals were a bit puzzled at her wish. Most of them would rather meet David Beckham or a boy band like Busted.

"But Louise had her heart set on meeting the chef. I'm just happy he lived up to all her expectations. He

was so genuine and he made a little girl very, very happy."

Ciona said: "Not many people can say they got to meet their hero.

"Jamie means so much to her and no-one will ever be able to take the magical memory from her."

Copyright 2004 MGN LTD
Provided by ProQuest Information and Learning Company. All rights Reserved.

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