Wednesday, May 27, 2009

Rare insights from pupils' film in New Zealand

Rare insights from pupils' film |

"Michael reveals what it means to be a young man with the rare, genetic condition of Williams syndrome which causes medical and developmental problems. Because Michael lives in their small community, the Year 7 and and Year 8 film-makers knew him but not really as a person until they spent time together, Ms Anderson said. They photographed him at a garage where he likes to fix cars and bicycles, and video-taped him playing his electric guitar.

Wairau Valley School principal David Nott said the project was relevant to the whole community. Students were able to 'closely consider how life is for someone with the challenges of a disability. Our special guests were fantastic and our students are richer because of the experience.'"

Monday, May 25, 2009

Trike is spot on for Stockton teenager

Gazette Live - News - Local News - Trike is spot on for Stockton teenager
: "GETTING around is now a whole lot easier for 15-year-old James Pickering.

The Billingham teenager has a rare developmental disorder called Williams Syndrome and can walk only very short distances.

But thanks to a group of bingo-goers and national charity Whizz-Kidz, James is now riding high on a specially-adapted tricycle.

“I’m really pleased with it,” said James. “I’d like to say thank you.”"

Saturday, May 23, 2009

Running for Brittany

Running for Brittany | | Coshocton Tribune:

"COSHOCTON — Sprinting past the finish line, the number 25 proved to be a lucky one for Steven Wachtel.

That’s the number the 2007 River View High School graduate wore on his white T-shirt as he competed in the fourth annual Brittany’s 5K Run/Walk Benefit. His winning time was 18 minutes and 13 seconds.

“It feels good,” Wachtel said while still trying to catch his breath. “Whenever I get a chance to run I take it. It feels good to compete, but more than that running locally is about coming back to see friends and support a good cause.”

The yearly spring event was held Saturday at Lake Park to benefit the Williams Syndrome Association.

Williams Syndrome is a rare congenital disorder on chromosome seven that causes medical and developmental problems.

The event is named after 18-year-old Brittany Rogers who has the disorder. She is the daughter of Coshocton County Sheriff Tim Rogers and Nanci Rogers. Nanci serves as the president of the Williams Syndrome Board of Trustees.

“It’s a small association that is underfunded,” Nanci said. “Some of our philanthropic efforts include fundraisers to increase awareness, fund camps, conventions, research and education.”"

Tuesday, May 19, 2009

Baby Cody recovering after open heart surgery

Baby Cody recovering after open heart surgery | KOMO News - Seattle, Washington | Local & Regional:

"Cody suffers from Williams Syndrome, a genetic disorder involving heart and vessel problems that sent Cody into cardiac arrest in the past.

'When I watched him go into cardiac arrest and when they told me my son was going to die, (it) was a lot worse than I ever thought could happen when they said what was wrong,' Mitchell said.

Doctors have since told Mitchell that they're lucky Cody has even made it this far.

'I kind of felt lost when they said there was nothing they could do for him,' she said.

Fortunately, Michell and her family found the Cleveland Clinic and a doctor who said there was something he could do for her son.

'And although I thought it was going to be a challenging case, I said, 'Sure, we can do this,'' said Dr. Constantine Mavroudis.

Believe it or not, doctors used a Gortex patch - made of the same material as waterproof clothing - to make Cody's pulmonary arteries larger."

Thursday, May 14, 2009

Rare condition gives woman low IQ, perfect pitch - Rare condition gives woman low IQ, perfect pitch:

"Gloria Lenhoff can’t read music, but the 54-year-old Stewart Home School resident has spent her life learning more than 2,000 songs by ear.

Lenhoff has Williams Syndrome, a rare genetic condition that gave her both an IQ of 55 and astonishing musical talent."

Video is hosted on the site.

Tuesday, May 5, 2009

Alagille Syndrome or Williams syndrome - a Potential Missed Diagnosis

Biliary hypoplasia in Williams syndrome

How similar presenting issues led to a slower diagnosis of Williams Syndrome...

Conjugated hyperbilirubinaemia and biliary hypoplasia are not known to be features of Williams syndrome.

In this case, the initial presenting features were those of prolonged jaundice, biliary hypoplasia, and pulmonary branch stenosis, leading to the incorrect diagnosis of Alagille syndrome. Our attention has since been brought to other cases of Williams syndrome and prolonged conjugated hyperbilirubinaemia, one of whom was also initially thought to have Alagille syndrome (Metcalfe K; personal communication, 2005). There is some overlap between the clinical features of Alagille syndrome and Williams syndrome.3 Both syndromes are associated with poor feeding, short stature, and developmental delay. Cardiac abnormalities occur in both syndromes, and although classically Williams syndrome is associated with supravalvar aortic stenosis, pulmonary branch stenosis is also common.3,5 It has been suggested that Williams syndrome should be looked for in all cases of supravalvar aortic stenosis or pulmonary branch stenosis.6 Although some minor dysmorphic features are shared by both syndromes, for example, depressed nasal bridge, the facies are described as being quite different. However, we highlight the difficulty in detecting subtle features in a baby of 6 weeks of age. In our patient the facial characteristics were much more apparent at the age of 10 months.

Sunday, May 3, 2009

Michelle Announces a Golf Tournament to Benefit Williams Syndrome Association

The 4 of Us: golf tournament to benefit WS:

"Windham Country Club is pleased to announce it is hosting The Bill Gallagher Memorial Golf Classic to benefit Williams Syndrome Association on August 14th, 2009."

Williams Syndrome Drummer!

Williams Syndrome Drummer from Kimberly Shively on Vimeo.

William's syndrome: gene expression is related to parental origin and regional coordinate control

Journal of Human Genetics - William's syndrome: gene expression is related to parental origin and regional coordinate control

Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.

Friday, May 1, 2009

Williams Syndrome Woman Hosts Awareness Day

Full Story here:

"A WOMAN with a rare genetic condition hosted an awareness day in Crewkerne on Saturday in a bid to tackle prejudice.

Debbie Jackson, aged 29, wanted to make the community aware that Williams syndrome is a disability, as opposed to a disease, to overcome prejudice. This can stem from people's reaction to her physical characteristics. These include walking and talking slower than most people."