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Joubert syndrome

Joubert syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation. more...

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Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.

The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

Two genes that are mutated in individuals with Joubert syndrome have been identified. Mutation in gene of unknown function called AHI1 is associated with the majority of Jourbert syndrome cases. In cases where an individual has Joubert syndrome with progressive kidney disease to a gene called NPHP1 is mutated in addition to AHI1.

Read more at Wikipedia.org


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EMMERDALE CHARM
From Sunday Mirror, 12/19/04 by STEVEN SMITH

SNOW lies deep and crisp, and the reindeer are stamping their hooves... what child wouldn't be wide-eyed with wonder, to be in Lapland at Christmas?

But these are no ordinary kids. And on this trip, Santa isnit the only big name in town.

Stars from Emmerdale have joined 87 youngsters - chosen because they have serious, often terminal illnesses - on a flying visit to the frozen kingdom.

"This is a privilege for us," said Nicola Wheeler (alias Nicola Blackstock). "It's a hugely uplifting experience, to meet these kids. There's sadness in the background, but not on a day like this..."

Seven of the soap's cast, plus S Club 7 star Jon Lee, volunteered to join their local branch of the charity When You Wish Upon A Star, which helps seriously ailing children to see their dreams come true.

This Christmas, in four chartered planes, they are taking a total of 400 youngsters and their parents to see Santa in his home territory.

It's a long way from the cosy Woolpack, and for celebs and families alike it has meant a 5am start at Humberside airport, even though some of the cast hadn't finished filming until 9pm the night before.

But there's no time for tired and jaded egos - the children want snowball fights, sleigh rides and husky trips. Matthew Healy, 35, who plays hunky Matthew King, and Emmerdale's babe Julia Mallam, 22, are frolicking in the snowdrifts with a group of six-year-olds who have forgotten, for a few precious hours, that they have any cares.

When the party reach Santa's village magically it starts to snow. Julia and veteran actress Charlie reindeer ride, Matthew is organising an ice slide, and finally Jon leads them all in a chorus of Jingle Bells.

Each of the children, lining up to meet Santa, had a story of endurance against the odds.

Little Taylor Jade Lilley, for example, a bright four-year-old in her pink snowsuit - TJ to her family and friends. She suffers from the rare Joubert's Syndrome, which meant that parts of her brain failed to develop at birth. There's no cure. Not even any treatment. Just devoted care.

She has only recently learned to walk a few steps and struggles to Santa, gazing in wonder, she does manage the request she has been practising... blue and bike.

And of course, in this magical place, she need say no more. On Christmas morning a blue tricycle, specially-adapted for TJ's needs, will be waiting at home in Cleethorpes "This day was the biggest day in TJ's life," said her mum Nicola, 32.

"We don't know what the future brings, but just for a little while we were able to forget all of the worry." And for 10-year-old Roxanne McCann, the daily regime that she has to follow, to keep her slender hold on life, was briefly left behind. Every night, she spends 10 hours on a dialysis machine. Her kidneys now function at just two per cent of capacity.

"Our only hope for the long-term is a transplant," said her mother Gemma, 28. "And for that reason, I couldn't tell her we were going until the very last minute - just in case the call came that a donor had been found.

"We had to be up at 3am, which meant she had to be put on her dialysis machine at teatime the night before. I told her a little white lie - I said it was because we were going Christmas shopping in Sheffield. Next morning, I showed her the pictures of Lapland, and she thought she was still asleep and dreaming."

Santa told them all they were brave children. And who would argue with the expert? Little Olivia Skerne, five, lives with an illness that would test any adult - Type One diabetes, which requires three injections and four blood tests every day. She's not allowed sugary drinks, or chocolate, or even a morsel of Christmas cake.

"We cling on to hope that research will find a long-term treatment," said her mother Karen, 37, who gave up her teaching job to work part-time as a receptionist - that way she's only a few minutes away from Olivia, to administer her injections.

"On a trip like this, Olivia and the all of the others can just be normal children. Just for the day, they're not sick patients any more."

Even for the older child - a bit cynical, perhaps, about Santa and his present-bringing powers - a visit to Lapland can make him wonder.

Twelve-year-old Fraser Lamb, a spina bifida patient who spent three months immobilised in a hospital bed this year, checked out the snow, the reindeer, the flowing white beard. Contrary to rumours he'd heard, they were all real. "But one thing really boosted Fraser's street cred," said mum Jan, 45. "He got a kiss from Nicola. He blushed to his roots, but he won't forget it when he grows up."

And that's what we'd all look forward to - seeing these children grow up. In some cases, inevitably, a treat from the charity can be a final dream come true. At the last moment, seven children scheduled to go on the Lapland flight were too ill to travel.

And soon after coming home, Zoe Langham, six, who has a bone marrow disorder which weakens her immune system, was hospitalised for three days with a viral infection.

"Seeing the real Santa was payback time, for all that she has suffered during her young life."said her mum Valerie, of Thornborough, N Yorks.

"There is no doubt that a few of the children on this trip are spending their last Christmas," said fundraiser Joanne Kernon. "We can't change that. But we can help them see their dream."

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

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