Tuesday, April 29, 2008

Tara Reflects on Helping Payton Make Her Way in This World

Our Journey: Heartache:

"Sunday we attempted church again. Sunday school always goes very well - and I am thankful for that. This Sunday I got out of my class earlier than Payton's (very unusual), so I was able to watch her thru the window. A teenager was helping Payton with the activity they were doing...I guess I should say 'trying to help Payton'. Payton was standing up so I would've guessed she would've been very active at this point....instead she was spaced off, mouth open - in her own world. She does that when she is either overstimulated or overwhelmed. Seeing her face like that kills me. Heartache.

Then, on to the worship service. I keep trying to take her - thinking eventually she will have a good experience. And, I do try to pay close attention to see when she's about to lose it or see when she's had enough. Payton was nervous as soon as we sat down, so I tried to sidetrack her with goldfish crackers. It worked for a second, but then the choir started to sing......there's got to be something about the organ and the piano. She screamed at the top of her lungs and covered her ears. We bolted out as fast as we could. It's obvious it hurts and I hate it for her. Heartache."

£10,000 for Deal or No Deal 'loser' - Money to Go To Hospital That Served Her WS Son

£10,000 for Deal or No Deal 'loser' - Birmingham Mail:

"MANY game show contestants dream of splashing out on a new car or a holiday.

Olga Orlandini, of Solihull, also set her sights on scooping a pot of cash - but for a very different reason.

In 2005, the 33-year-old lost her two-year-old son Gianluca to a heart condition brought on by Williams syndrome, a rare genetic disease.

'When Gianluca passed away, I would spend a lot of time watching daytime television including the Channel 4 show Deal or No Deal,' said Olga, who has two other children - Olivia, aged ten, and Massimo, 20 months.

'While Gianluca was at Birmingham Children's Hospital he was attached to a portable heart monitor so that it could be moved around with him.

'I wanted to raise £10,000 for the hospital, enough for two portable heart monitors.'

Olga applied to go on the TV game show, hosted by Noel Edmonds, where the contestants choose a box at random before eliminating 21 others containing values ranging from 1p to £250,000.

Olga said she had a 'disastrous' game and ended up walking away with just £5.

'I'd taken a picture of Gianluca on to the show and had chosen box 14 - his birthday,' she said.

'I was stunned when the box was opened and there was only £5 in it. I felt sick."

Although she didn't know it at the time, a viewer was so moved by Olga's quest that she rang Birmingham Children's Hospital pledging £10,000, stipulating that the woman who had appeared on the show must decide how the money was spent.

Monday, April 28, 2008

Ohio Community Helps the Williams Syndrome Association

Coshocton Tribune - www.coshoctontribune.com - Coshocton, OH:

"COSHOCTON - Brittany's 5K Run/Walk Benefit will be Saturday, May 31, at Lake Park. Registration is 7:30 to 8 a.m. with the race starting at 8:15 a.m.

All proceeds benefit the Williams Syndrome Association. The event is named after Brittany Rogers, a local resident with the rare disease."

Saturday, April 26, 2008

Disability doesn't stop spirited teen - Pasadena Star-News

Disability doesn't stop spirited teen - Pasadena Star-News:

"PASADENA - Laura Betancourt is a typical teenager. She racks up cell phone minutes talking to friends and loves singing and donning her tap shoes.

The only difference between the 16-year-old Pasadena teen and her peers is her blindness.

Laura, an eighth-grader at John Marshall Fundamental Secondary School, suffers from Williams syndrome, a rare genetic disorder that weakened her immune system. She lost her vision eight years ago after complications from chicken pox.

Today, Laura will compete at the Junior Blind Olympics - pitting herself against hundreds of other athletes from California and across the nation in archery, rowing, soccer throw, goal ball, a 100-yard dash and the long jump."

Friday, April 25, 2008

Penny's Thoughts on Williams Syndrome

Penny is a Floridian and mom to a 4 year old boy with Williams Syndrome. She has done some great research on WS and how to get help. You can check out her mulitple blogs here:

View this  Blog Calcium Information
View this  Blog IEP Information
View this  Blog Keith Alan
View this  Blog What Is Williams Syndrome?
View this  Blog Information for Teachers
View this  Blog What Is PDD-NOS?
View this  Blog Research Information

Wednesday, April 23, 2008

Cracks in the Sidewalk Look Bigger Than They Appear

Ava's Garden:

Kim writes of the progress her granddaughter Ava is making:

"Ava loves to toddle on the sidewalk, all the way to the end-turn around-and do it all over again. Unfortunately, the poor baby doesn't dare to look down while walking. It makes me sad that she gets stuck on a benign crack in the sidewalk. She gets visibly agitated and cries. It's a simple fix. Pick her up, move her past the crack, and she's good to go. Visuospatial issues, indeed. And what missing gene is responsible for my granddaughter having to walk as carefully as someone who is 80 years old?"

Friday, April 11, 2008

Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams Syndrome phenotype

Dr. Levitin discuss some helpful observations on how people with Williams Syndrome hear.
The results of this study indicate that people with WS
present four unusual behaviors of auditory perception:
hyperacusis, odynacusis, auditory aversions,
and auditory fascinations. The hyperacusis might be
characterized as an early awareness of sounds that
are either too soft for others to hear or simply inconsequential
to others. Both odynacusis and auditory
allodynia create distress/discomfort in people with
WS, and together constitute aversion. Finally, we
documented that people with WS may show an intense
fascination for or attraction to certain classes of
sounds, often the same sounds of which they were
frightened at a younger age. Thus, the concepts of
aversion, awareness and attraction seem to characterize
the auditory anomalies observed in WS, and
may help to describe the WS phenotype, although we
note that reports of true hyperacusis were significantly
less commonthan of aversions and attractions.
The present study contributes significantly to a
clinical and conceptual understanding of auditory
abnormalities in WS. Because the genotypes in WS,
DNS and AUT are clearly defined, the study of these
distinct populations offers an unprecedented
opportunity to link genes, brain, and behavior. This
effort is greatly facilitated by the ability to document
such striking phenotypic differences as exist in
auditory function among the groups. Although the
precise mechanisms underlying the four auditory
anomalies in WS remain unknown, the present
paper documents the existence of abnormalities in
auditory perception which previous reports had
confounded. Ongoing work in our laboratories
focuses on the functional and structural neuroanatomical
components of these disorders, with the
goal of eventually understanding how genes, brain,
and cognition are linked. People with WS may provide
important clues to the neurogenetic basis of
cognition, perception, and complex behaviors.

Helping a Williams Syndrome Boy Get Dental Care

press-citizen.com | Local News:

"Josh has Williams Syndrome, a rare genetic disorder that causes medical and developmental conditions, including mild to moderate mental retardation or learning difficulties, a distinctive facial appearance and heart or blood vessel problems.

He had open heart surgery when he was only 1 year old, Jody Hegwood said.

'(Josh) has a hard time getting a regular dentist to see him because of his heart condition,' his father said.

So the Hegwoods bring Josh to the University of Iowa Center for Disabilities and Development for his dental care through a statewide program called Dental Care for Persons with Disabilities. The program, started in 1983, is administered by the Department of Pediatric Dentistry at the UI College of Dentistry, the UI Center for Disabilities and Development and the Iowa Department of Public Health.

Since its inception -- it was started by Dr. Arthur Nowak, a former pediatric dentistry professor at the University of Iowa -- the program has served more than 3,000 children and young adults.

'It's a program to meet the needs of families who would fall through the cracks,' said Gayle Gilbaugh, program associate and dental hygienist in pediatric dentistry."

Wednesday, April 9, 2008

Olga's a real inspiration! - Birmingham Mail

Olga's a real inspiration! - Birmingham Mail:

"AN INSPIRATIONAL woman who lost her little boy to a rare disease has been nominated for the title of Britain's Most Inspiring Fundraiser by her proud mum.

Less than three years ago Olga Orlandini, from Solihull, lost her two-year-old son Gianluca to a heart condition brought on by Williams syndrome, a rare genetic disease.

Since then she has fought tirelessly to gather £30,000 for various charities and to raise awareness of the disease."

British Students Help Support Young Family with Williams Syndrome Boy

Stockton pupils raise money for Bailey’s charity - Gazette Live

Pupils at Our Lady and St Bede School in Stockton, where Bailey’s grandmother Hazel Gallacher works as a cover supervisor, were so touched by his story they raised £240 for the Williams Syndrome Foundation.

Read the full article here.

Enlivening Lives! - Williams Syndrome Students in MA Share Their Skills and Joy

'They enliven people's lives' - MassLive.com:

"Berkshire Hills is the nation's only private, post-secondary residential school serving students who have this combination of gifts and challenges.

'There are so many kinds of intelligence and so many ways to be productive,' said Executive Director Ljuba Marsh. 'This school allows people to thrive and serve their communities. They go out to nursing homes, senior centers and elementary schools to perform. They enliven people's lives.'

Of the 26 students enrolled at the school, many have a rare genetic disorder called Williams Syndrome, while others have Asperger's Syndrome, cerebral palsy, Down Syndrome, or visual impairments. The school's curriculum is music-focused but aims to strengthen academic skills as well as job readiness."

Thursday, April 3, 2008

Shall We Dispose the Disabled?

kerux noemata: Shall We Dispose the Disabled?:

From my personal blog: "I thank God that no one 'counselled us' out of the safe delivery of our special needs child! What would our life be without him?!"