Williams Syndrome Grows in Awareness, Research - ABC News

Williams Syndrome Grows in Awareness, Research - ABC News:

"“Awareness has skyrocketed, for a relatively rare syndrome,” said Terry Monkaba, executive director of the Williams Syndrome Association (WSA). Affecting one in 7,500 newborns, Williams Syndrome (WS) causes a combination of ebullience, empathy, fearlessness, linguistic and musical talent, elfin features, heart conditions and bad teeth.
After the “20/20″ story last June, Williams Syndrome was in the top 10 Google trends for three straight days, Monkaba said. The website averaged more than 1,000 hits per day for a month after the broadcast, she added. On an average day before that, it would get 200.
In addition, WSA fundraising is up 35 percent over last year, Monkaba said. The scholarship budget for WSA summer camps has jumped to $135,000 from $35,000 two years ago. The number of camp weeks has grown from four to eight over that period."

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Brain scans offer insight into Williams syndrome

Brain scans offer insight into Williams syndrome - health - 12 March 2012 - New Scientist:

"Mbemba Jabbi at the National Institutes of Health in Bethesda, Maryland, and colleagues studied MRI scans of 14 people with the syndrome. They found that the insula – a brain region involved in emotion – was smaller than in 23 people without the syndrome.
When Jabbi's team used PET scans to examine the insula in more detail, though, they found that one area of the right insula was larger in people with Williams syndrome. Those with more extreme personality differences had more grey matter here."

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UPDATE: Family’s joy at U-turn on mobility car

Family’s joy at U-turn on mobility car - News - Shields Gazette:

"A SOUTH Tyneside mum has told of her delight after Government bosses did a U-turn on the decision to take away her disabled daughter’s mobility car.

Little Amarni Gibson was told by the Department of Work and Pensions, that the VW Golf her mum Gillian uses to ferry her about would have to go – because they no longer considered her disabled enough to qualify for it.

Mrs Gibson was devastated as her eight–year-old daughter suffers from the rare genetic condition Williams syndrome and is hooked up to a feeding machine 20 hours a day.

The Gazette revealed Amarni’s plight last month, and after Mrs Gibson contacted MP David Miliband her case was referred to the Citizens Advice Bureau in Station Approach, South Shields.

But now the family have been told they will be able to keep the car plus Amarni’s disability living allowance – which had been reduced to the lowest level two years ago – would also be increased."

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A Bear and a Buddy: A Delivery that Changed a Boy's Life

A Bear and a Buddy: A Delivery that Changed a Boy's Life:

"Imagine being a child and never meeting anyone like you. Imagine being a child that doesn't feel special, but ostracized. Imagine being unable to contain your excitement at meeting strangers, wanting to make friends, and seeing them turn away.

According to Holly Knaak, her son Kyle is all of those things. He's never had a true best friend. He's never known anyone his own age who looks, sounds, or behaves like him.

A week with a teddy bear has changed his life forever. Here's the story of why."

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Williams Syndrome, Their Child’s Disorder, Mobilized the Kievs - NYTimes.com

Williams Syndrome, Their Child’s Disorder, Mobilized the Kievs - NYTimes.com:

"A day after their daughter was born, Mrs. Kiev was resting in her hospital room when the cardiologist stopped in. “Marshall had gone home and I was alone, and the cardiologist asked me if I had heard of Williams Syndrome, and my heart started to thump and I said to him, ‘What does that mean?’ ” She called her husband immediately."

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Rare Disease Day spotlights rare conditions and need for treatments

Rare Disease Day spotlights rare conditions and need for treatments - HealthPop - CBS News:

"In the U.S., a rare disease is one that affects fewer than 200,000 people. There are about 6,800 such diseases, according to the National Institutes of Health. As many as one in 10 Americans suffers a rare disease, often struggling not just from the medical condition itself, but also to get proper diagnosis, information and care.

Examples of rare diseases include such conditions as Progeria, a syndrome characterized by premature old age; Proteus syndrome, which involves atypical growth of skin and bones; and Williams Syndrome, a disorder marked by extreme friendliness and no social anxiety.

Rare Disease Day was launched in Europe in 2008 to draw awareness to the public health issue of rare diseases. The day has since been sponsored by the National Organization for Rare Disorders (NORD) in the U.S., an organization that was established in 1983 along with the Orphan Drug Act, a law designed to promote the development of drugs for rare disorders."

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Miles for Molly fundraiser run for Ivins girl

Miles for Molly fundraiser run for Ivins girl | | St. George News | STGnews.comSt. George News | STGnews.com:

"IVINS - On March 24, Red Mountain Elementary School staff will join forces with the community to help a child in need with the Miles for Molly fundraising run.

The daughter of Ivins residents Dallas and Melissa Dixon, 18-month-old Molly, was born with a rare genetic disorder named Williams Syndrome (less than 30,000 individuals in the U.S. are affected). People with WS struggle with many critical health complications such as cardiovascular disease, muscle and bone structure issues and learning disabilities.

Weighing just 3-pounds, 10-ounces at birth, Molly has already undergone several costly surgeries to help with her condition.

She has also experienced extensive hearing loss.

Miles for Molly was organized by Linda Kreyling and Sherri Lords of Red Mountain Elementary school, where Molly’s mother teaches second grade.

“Our main goals are to help Molly while promoting the benefits of healthy living,” Kreyling said. “I would like to encourage everyone to sign up. Not only will [you be helping] a sweet and loving child, but you will be able to enjoy the beautiful scenery we have [here in Ivins].”"

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Disabled girl faces losing her lifeline - Health - Shields Gazette

Disabled girl faces losing her lifeline - Health - Shields Gazette:

"A SOUTH Tyneside mum claims her eight-year-old disabled daughter will be stranded if a Mobility car is taken away.

Little Amarni Gibson suffers from the rare genetic condition Williams syndrome, which means she is hooked up to a feeding machine 20 hours a day because she can’t eat food.

But the Department of Work and Pensions has told the family they can no longer have the VW Golf – because they no longer consider Amarni to be disabled enough to qualify for it."

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Gazette.Net: Make-A-Wish Foundation sends Urbana family to Walt Disney World

Gazette.Net: Make-A-Wish Foundation sends Urbana family to Walt Disney World:

"The local chapter of the Make-A-Wish Foundation recently granted the wish of Tatum Ridgley, 6, of Urbana, who traveled to Walt Disney World in Orlando, Fla.

“It was just one of the most amazing trips we’ve ever had,” Tatum’s mother, Lisa said. “It’s something we’d never be able to recreate. It’s something they’ll both remember.”"

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Smiling no matter what | Breaking & Daily News, Sport & Weather | TV ONE, TV2 | TVNZ

Smiling no matter what | Breaking & Daily News, Sport & Weather | TV ONE, TV2 | TVNZ:

Click on the link to a great video on some Williams people in New Zealand. Really well done!

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Tifton family starts Williams foundation - Live, Local, Late Breaking news, weather, and sports

Tifton family starts Williams foundation - Live, Local, Late Breaking news, weather, and sports:

"Dawson was diagnosed at 2 and a half years old. She says early detection is extremely important so you can start treatment as soon as possible. The most common symptoms of Williams syndrome are mental disability and heart defects.

"A lot of families don't have their specialist in town, we don't, we go to Atlanta, we have ten specialist that we see, so we are back and forth, so you have to think about the gas and food and overnight stays," says Bedore.

The financial burden adds up. Which is why she started the Williams Syndrome Family of Hope, a national non-profit organization that raises money for research and families in need."

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Coming up on 20/20 February 9

Coming up on 20/20 February 9: Born to Smile | 20 20 News:

"Born to Smile: When a baby is born with Williams Syndrome, even the doctors don't always recognise the symptoms. The most striking characteristic is their extreme friendliness. They were born to smile. But that smile is not always returned when their loving nature is taken advantage of. Emma Keeling meets two inspirational women who keep smiling no matter what the world throws at them."

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Psychopathological and behavior impairments in Williams-Beuren syndrome

Psychopathological and behavior impairments in Williams-Beuren syndrome: the influence of gender, chronological age, and cognition. | World Intelligence Network:

"For specific cognitive abilities, those cognitive functions characteristic of the classic WBS cognitive profile (a strength in verbal skills and a weakness in spatial skills) related to significantly greater internalizing difficulties. Future studies should explore underlying genetic and neurological differences in individuals with WBS in order to help explain the variability in psychopathological and cognitive functions."

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Lincoln County Record » Cayson’s Disney Wish Granted

Lincoln County Record » Cayson’s Disney Wish Granted:

"Young Cayson suffers from a genetic disorder called Williams syndrome, also known as Williams-Beuren syndrome, a condition that causes loss of genes that can affect development. In Cayson’s particular case, one of the missing genes causes a loss of elastin in blood vessels and other tissues, which gives him a heart condition, as the missing gene causes blood vessels to narrow. Not all children with Williams syndrome suffer from the same heart condition. However, the McClures find hope by believing it’s, “in the Lord’s hands. We take it day-by-day,” says mother Tameran. Cayson had a stint put in his heart the week before Thanksgiving that will stay in for the rest of his life, and was still in the hospital on Thanksgiving, so the mother remarked they felt, “lucky he was well enough to go.”"

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