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."

'via Blog this'

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].”"

'via Blog this'

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."

'via Blog this'

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.”"

'via Blog this'

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!

'via Blog this'

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."

'via Blog this'

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."

'via Blog this'

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."

'via Blog this'

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.”"

'via Blog this'

Absolute Pitch in Williams Syndrome

Absolute Pitch in Williams Syndrome: "Absolute pitch is reported to occur in 1 out of 10,000 persons, usually those trained in music before age 6. We demonstrate that the five individuals we tested, who have Williams syndrome, a condition caused by a microdeletion of about 20 genes in the q11.23 region of one of their two chromosomes number seven, possess near ceiling levels of absolute pitch despite their limited cognitive abilities. With these individuals, we also describe our preliminary findings on relative pitch, transposition, and retention. We discuss the possibilities that (1) the incidence of absolute pitch among individuals with Williams syndrome is higher than that found in the general population and (2) the normal early childhood critical period of absolute pitch acquisition may be extended in individuals with Williams syndrome."

'via Blog this'

The Times Herald - Local mom details experience raising son with Williams Syndrome

The Times Herald - Local mom details experience raising son with Williams Syndrome:

"Children with Williams syndrome will perform these friendly acts naturally, and willingly, while making each person they’re greeting feel like the man of the hour."

'via Blog this'

Psycholinguistic abilities of children with Williams syndrome. | World Intelligence Network

Psycholinguistic abilities of children with Williams syndrome. | World Intelligence Network:

"When groups were compared, we observed inferior performance of the WS group on all ITPA subtests when compared with typically developing groups. Moreover, an interaction between reception and group was found, only the WS group demonstrated superior performance on the visual reception subtest when compared to the auditory reception subtest. Evidence from this study offers relevant contributions to the development of educational intervention programs for children with WS."

'via Blog this'

At 10 years old, already a philanthropic entrepreneur - Daily Pilot

At 10 years old, already a philanthropic entrepreneur - Daily Pilot:

"Jack, a great lover of all things sweet and chocolately, wanted to incorporate all his favorite flavors, but it was also important for his candy to be organic, with no dyes or preservatives, so that it's safe for his younger brother Colin, 8.

Colin was born with Williams syndrome, a rare genetic disorder that severely restricts the food he can eat. It also causes serious medical conditions, and learning and social challenges.

"It's really hard for us to find food he can have," said Marcy McKenna.

Jack is also donating 20% of his profits to the Williams Syndrome Assn.

"I wanted to try to donate money to them, so they can fix themselves and get help," Jack said.

Colin, who was munching on a piece of his big brother's toffee, said it makes him feel special that Jack did this for him.

"I love my brother," he said.

The idea for Jack's Rockin' Chocolate Factory started with a simple conversation Jack had with his mother about college and business."

'via Blog this'

Announcement from Australian Williams Syndrome Forum - NSW Snug Retreat

Australian Williams Syndrome Forum - NSW Snug Retreat:

"I am spreading the word to NSW families about a Snug Retreat specifically for families with a Williams Syndrome child. The dates are Monday 5th March –Friday 9th March 2012. There are places for up to five families and the cost will only be the travel to and from Myuna Bay Sport and Recreation Centre. Myuna Bay is just north of the Central Coast. "

'via Blog this'