Friday, May 31, 2013

Girl with Down syndrome excited to be first-time cheerleader

By Alex Cabrero from
With the school year winding down, many students are trying to figure out what to do this summer. But one junior high student already can't wait for the next school year.
Lily Smith is 14 and will be in ninth grade next year at Eisenhower Junior High, and she's going to be on the cheerleading team for the first time. It's also the first time this school will have a cheerleader who has Down syndrome. It seems so simple — cheerleaders cheer to get crowds to cheer. But any cheerleader can tell you it's so much more than that. There's makeup, pictures, pom-poms, and hugs — lots and lots of hugs. Something Lily is good at.

Thursday, May 30, 2013

New genetic cause for learning disability in Down syndrome identitfied

Researchers have reported a novel molecular mechanism through which triplication of chromosome 21 could cause deficits in learning and memory in patients with Down syndrome.
Down syndrome is caused by the abnormal inheritance of three (rather than the usual two) copies of chromosome 21.  At a genetic level this leads to higher than normal levels of expression of the many genes and non-coding RNAs that are encoded on this chromosome.  Clinically this results in a complex constellation of symptoms of which the most prominent is a varying degree of learning disability.  Learning disability in Down syndrome is associated with reductions in the number and activity of the synapses (connections) made between neurons in the brain, and so understanding the mechanisms underlying these neurodevelopmental abnormalities may provide the key to ameliorating the effects of this disorder.

A new study in Nature Medicine reports that the protein encoded by the sorting nexin 27 (SNX27) gene, which is present at abnormally low levels in the brain of patients with Down syndrome, may underlie the presence of learning disabilities in this condition. 

The researchers showed, by knocking out the Snx27 gene in mice, that its expression is vital for brain development.  In particular they discovered that Snx27 is vital for the maintenance of synaptic activity and consequently for learning and memory, deficits in which underlie learning disability in patients with Down syndrome.  In a key experiment that linked these observations in mice more directly with the symptoms of Down syndrome in humans, the team were able to demonstrate that increasing Snx27 levels in a mouse model of Down syndrome could reverse the learning and memory deficits from which it is suffers.  

Wednesday, May 29, 2013

Breaking through the disability barriers in Bankok

from the Bankok Post:
A group of parents and supporters based at Siriraj Hospital work for a better future for children with Down syndrome.
In Wang Lang market in Phra Nakhon district, city life hums and throbs and commuters and residents rush about their daily chores. It's a typical everyday scene.
But a short distance away, inside a building, a group of people are captivated by a starkly contrasting scene and a much slower pace of life. On a stage, 18-year-old Nong Fah dances slowly and carefully in front of a group of 50 parents and their children.
The event is the 21st annual meeting of children born with Down syndrome and their parents held at Siriraj Hospital recently.
The father of Nong Fah, a 53-year-old teacher who asked not to be named, and all of the people in the room clapped as she completed her performance successfully.
"We gave her special education, such as physical and speech training, since her birth," he said, to help her delayed physical and mental development.
"I'm glad she is healthy today. It was tough at the beginning and her future worried us."

Tuesday, May 28, 2013

Brain Cells Grown from Skin Cells Reveal Certain Effects of Down Syndrome

from Counsel & Heal by Cheri Cheng:
Brain disorders, such as Down syndrome, which is the most common type of hereditary intellectual disability, are some of the hardest conditions to understand. There are multiple mechanisms and levels of activity that occur in the brain that make it difficult to pinpoint the exact relationships between genetic mutations and the symptoms they cause. In Down syndrome people, in particular, researchers know that the condition results from an extra copy of a single chromosome. Researchers do not know how this one copy could result in a wide range of symptoms. In an attempt to understand this, researcher Anita Bhattacharyya, a neuroscientist at the Waisman Center at the University of Wisconsin-Madison, studied brain cells that were created from the skin cells of people with Down syndrome.
"Even though Down syndrome is very common, it's surprising how little we know about what goes wrong in the brain. These new cells provide a way to look at early brain development," she explained.

Monday, May 27, 2013

Teen with Down syndrome graduates prep school as part of innovative program his parents helped found

A few months before Ryan Burke became the first student with Down syndrome to attend Notre Dame College Prep in Niles, his father made an emotional plea to his son's classmates.
"All we ask is that you say 'hi' to him. Just give him a chance," Kevin Burke recalled saying at a school assembly. "He'll take it from there."
Living up to his father's prediction — and demonstrating the success of a remarkable initiative Notre Dame hopes other Catholic schools will emulate — Ryan Burke, 19, graduates Saturday. His yearbook features pictures of him on the swim team, student council and marching band.
He also has something perhaps more precious — memories from four homecoming dances and two proms, as well as a cellphone filled with messages from friends he's made along the way.
The ceremony will mark a sweet victory for the Western Springs parents, who have been campaigning for Ryan's inclusion in normal classrooms since preschool. Kevin and Elaine Burke worked tirelessly to persuade Notre Dame's administration to become one of only a few Catholic high schools in the country with a structured program for students with severe special needs.
And Notre Dame officials say Ryan's example has left a permanent mark on the school, where students now don't think twice about seeing a classmate with special needs carrying the school banner at a football game or in line at the cafeteria.
Next year, the school expects 10 special needs students, with many more applicants than can be accommodated.
"He's a trailblazer," said Principal Dan Tully. "The families have been finding us, sometimes years before they go to high school."

Sunday, May 26, 2013

Couple With Down Syndrome Gets Surprising Offer From Same Movie Theater They Say Mistreated Them

By Diana Rocco from CBS 3 Philly:
Stefan and his girlfriend AnnaRose have been dating for nearly a year.
“Well, she’s pretty and she’s nice and we love each other,” said Stefan.
“That’s true,” said Anna Rose.
Stefan and Anna both have Down syndrome. They love going to themovies, but after a bad experience two months ago at the AMC in Marlton, the teens left embarrassed and upset and didn’t want to go back (see previous story).
The theater has assigned seating. They accidentally sat in the right seats, but the wrong row. A manager separated them and moved them to the back of the theater
But after an outpouring of support from the community, AMC sprung into action to make it right, offering Anna and Stefan a private free screening and an apology from the manager.
“A face to face apology,” said Anna.
Corporate flew out to meet Anna and Stefan for lunch. They got a tour of the theater. Also, AMC said they would review and revise their policies.
“They heard what we said,” said Stefan’smother, Toni Slowinski. “They heard what not only what we said, but the community, and AMC didn’t just turn a blind eye to it. They were like, oh, wow, there’s a problem, we need to fix that.”
“Anna and Stefan were shown by AMC that you can step up and advocate for yourself,” said Anna’s mother, Lin Rubright.
Stefan will soon be starting work at another AMC theater and Anna is now considering a job.
After their meeting, AMC announced they’ll be running a public service announcement during the month of March to bring awareness to Down syndrome in all of their theaters nationwide.
Anna and Stefan say they’re looking forward to their next movie in Marlton.

Saturday, May 25, 2013

Man with Down syndrome scammed out of $600

A man with Down syndrome learned the hard way how cruel people can be when his trust was earned and he was scammed out of $600.

update from News 10 ABC:
Donations help student with Down syndrome who was scammed
Hundreds of dollars poured in for a Sac State student with Down syndrome; the money was raised in just a little over 24 hours thanks to a social media campaign.

Friday, May 24, 2013

disability living allowance for Arthur and not for Alfie

from the Lancashire Evening Post:
The 10-months-old brothers, who have identical medical problems and need the same round-the-clock care, became instant TV and newspaper stars after their plight was featured in yesterday’s LEP.
Yet despite all the press attention, officials at the Department of Work and Pensions were showing no signs of budging over their payment of disability living allowance for Arthur and not for Alfie.
“We haven’t heard a word from them yet,” said dad David. “They must know this case is ridiculous. All we are asking for is a bit of fairness.”
The national media descended on the Banks-Lowe household when the story of the twins’ case hit the newstands near their home in Wesham near Kirkham.
David admitted: “I had to come home from work in the afternoon because there were so many press here knocking on the door.
“It has gone totally crazy. The story on Facebook had something like 51,000 shares within a matter of hours.
“The benefits issue is quite a hot one at the moment with all the rejigging that has been going on. And then a ridiculous case like this comes along and it obviously caught the media’s attention.
“No-one we have spoken to can quite believe what has happened with Arthur and Alfie.”
The boys were born one minute apart and have exactly the same medical issues and care needs. They have daily physio sessions, attend hospitals and clinics regularly for heart, lung and eye problems and their breathing has to be monitored during the night.
Yet one officer at the benefits department at Warbreck House in Blackpool judged Alfie did not need any more care than other children of his age. Meanwhile an identical application for his twin Arthur was granted without question.
“It’s worrying for other people applying for this allowance because it shouldn’t be a lottery who you get to deal with your case.”
A spokesman for the disabled charity Scope said: “Parents tell us they have to fight battle after battle to get the right support for their children. But this is one of the worst examples we’ve heard.
“Everyday life costs more if you’ve got a disabled child. In the current climate that makes disability living allowance a real life-line.
“How can it be right that of two identical twins living in the same household, one is eligible for DLA and the other is not? This suggests that the system is a complete lottery, which depends on who is assessing your application.”

Thursday, May 23, 2013

German TV host Kai Pflaume is on a mission - he wants to raise awareness for people with trisomy 21

from DW:
An estimated 50,000 people live with Down syndrome in Germany, and many of them feel marginalized in their everyday lives. Now a famous German TV host is working to raise awareness for them.
German TV host Kai Pflaume is on a mission - he wants to raise awareness for people with trisomy 21, or Down syndrome. In a new four-part TV series to be broadcast in June on Germany's main network ARD, he visits people living with Down syndrome and provides insight into their everyday lives. Called "Show Me Your World," the project aims to show how people with Down syndrome can live very normal lives.
Happy in their own world
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21, hence the name trisomy 21. Since the strength of this disability can vary, many people with Down syndrome live completely normal lives with their families, while others need more help.
Support is provided for them and their relatives by the German Down Syndrome Network, whose chairman is Heinz Joachim Schmitz. He often notices how people without a disability react when they meet someone with trisomy 21. "At first, they're a little afraid," he said. "They take two steps back, then three steps forward - once they've made contact with them."
That's because people with Down syndrome are often noticeably cheerful, with fewer hang-ups than others. "They have their own world, and are settled and happy inside it," said Schmitz, who thinks it's a shame that so many have such a stand-offish initial reaction. "People with Down syndrome belong to our society, and should not be marginalized."

Wednesday, May 22, 2013

Helen Mirren gives royal welcome to boy with Down syndrome and terminal cancer

by Randee Dawn from Today:
Dame Helen Mirren all by herself is pretty terrific. But put the 70-year-old Oscar winner in the outfit of the Queen, and she wears it like a superhero.
Recently, she stormed outside mid-performance of her London show "The Audience" (in which she plays Queen Elizabeth II) to unload on noisy drummers (and later publicly wore a handmade T-shirt supporting their cause). But her latest deed goes one step further: Last week, she agreed to have tea with 10-year-old Oliver Burton, who has Down syndrome and has been battling cancer for much of his short life.
Burton was diagnosed with leukemia in 2006, and was recently given a terminal diagnosis, according to a Facebook page set up to support him. But he had one dying wish: To have afternoon tea with the Queen and visit Buckingham Palace, as reported by the Leicester Mercury.
A national trust designed to support cancer-stricken children requested the actual Queen Elizabeth II -- who couldn't work it into her schedule.
So Mirren stepped forward to invite him to the Gielgud Theatre to see her play the Queen -- and invited him backstage to share tea and cake and to meet the corgis who star in the play with her. There were even footmen.And naturally, she was in costume the entire time.
"Our incredibly brave Ollie has Tea with The Queen!" the National/Regional Children's Tumor Leukaemia and Cancer Trust posted on their page.
His mother Catherine told the Mercury, "Dame Helen was brilliant. She stayed in character the whole time and spent a lot of time talking to Oliver and drawing him out of himself. She signed his British flag, which he waves all the time."
She also knighted him, with her hand. Now, that's royal behavior.

Tuesday, May 21, 2013

Newark man goes 'Over the Edge' for Special Olympics

from the Newark Post Online:
Jonathan Stoklosa, a Special Olympics athlete from Newark, participated in the Over the Edge event on May 8 to raise money for Special Olympics Delaware.
Nearly 100 people rappelled 17 stories (221 feet) down the 300 Delaware Avenue building in Wilmington to raise more than $130,000.
Stoklosa was the first Special Olympics athlete to participate in the event's three-year history.

Monday, May 20, 2013

Disability Doesn't Even Slow Down Bridget Brown

From being the first student with Down syndrome mainstreamed in her school district to starting her own advocacy organization, Bridget Brown's journeys are far and wide
Living like a movie star for a week, Bridget Brown of Darien had a small part in a movie with Miley Cyrus. Brown also has her own consulting business, works as a dental assistant’s assistant and has many more jobs in life few of us would ever conquer. 
Having Down syndrome, the 27-year-old woman is considered to be disabled, but you would never know by the full life she leads.
Brown was the first person with a disability included in her school district and is a strong advocate of inclusion. Among her dislikes is hearing someone be insulted.
"Don’t call people retarded," Brown says. "I got called that, I was angry and wanted to cry.”   
Another fight Brown goes up against is mothers who want to abort their babies when they find out the baby has Down syndrome.
"Think of other options," she says. "Have the child. There are many couples that would take a child with Down syndrome. There are support groups. One is the National Association of Down Syndrome. I will even talk to you if you are thinking of getting rid of the baby. Give it a try. Then adopt."
Bridget and her mom, Nancy, are best friends. 
"When I see my mom," Brown explains, "I’m reminded of my grandma. I can tell how much love my grandparents had and I wanted that."
Q. What’s the biggest challenge you’ve faced?
A. My biggest challenge is learning to live a full life with a disability and being an advocate for myself and for others. 

Sunday, May 19, 2013

Hotel bans 'annoying' kids with Down syndrome

by Steve Tallantyre from The Local (Spain's News in English):
Spain's leading Down syndrome association has slammed a hotel for turning away a group of children with the condition 'in case they annoyed' other guests.
A reservation for a group of children with Down syndrome, who were to celebrate an end-of-term trip, was refused by an Almeria hotel hotel on the grounds that "these kinds of people might annoy other guests".
Management of the Hotel CaboGata Plaza Suites, of the ZT Hotels group, have apologized for the gaffe but the case has now been passed to Almeria's public prosecutor according to Spanish daily El País.
A worker from Down España asked a travel agent to get prices from three nearby hotels in order to organize an end-of-term trip for the children, who attend a school run by the association.
One of them, CaboGata Plaza Suites,  responded by saying, "We do not admit groups of guests with mental disabilities," because, "this has happened before."
The association reported the incident to the public prosecutor because it felt that there was "a clear case of discrimination against disabled people that breaks the International Convention on the Rights of Persons with Disabilities, ratified by Spain."
The convention prohibits "all discrimination on the grounds of disability".
This is not the first case of its type in Spain, according to Down España.
A nightclub in Sabadell and a pub in Alicante have both been prosecuted in recent years for refusing access to people with Down syndrome.
In 2009 a parish priest refused to give First Communion to a girl in Barcelona, saying that she was already "one of God's angels".
"We haven't gone public with this incident to victimize anyone but to educate the public," said Agustín Matía, head of Down España.
Sources from the hotel have apologized to the association, saying that the incident had been "a misunderstanding" and claiming that hotel staff had believed they were dealing with a group of former hotel guests with a different mental disability whose visit had been "very confrontational".
Hotel management claim that staff have been "deeply affected" by the incident which has led to a wave of criticism on social media networks.
They added: "In 35 years of business we have never refused access to guests with Down syndrome," who they said, "have been, are, and always will be very welcome."
Down España advised that families encountering any type of discrimination should demand a complaint form to record the details before contacting the public prosecutor.
Steve Tallantyre (

Saturday, May 18, 2013

Boy with Down syndrome kicks his cancer and brings smiles

from MSN Now:
This has to be the happy snapshot of the day. It's a photo of a young boy with Down syndrome and cancer celebrating the end of chemotherapy. Less than a day after it was uploaded to Reddit by user Kjr567, it had been viewed almost 837,000 times. "This picture has single-handedly made me feel the happiest I've felt for a long time. Thank you for posting it; and I wish that little man every possible success in his future," wrote one Reddit user. Kjr567 claims to be a family friend of the happy boy and said he's "always smiling." And now, thanks to his picture, we are too.  [Source]

Friday, May 17, 2013

At Disney Social Media Moms event, the small things made the event truly special

I’m very grateful for having been invited to the Disney Social Media Moms event this year. I wasn’t sure if I would be able to make it by myself with my two kiddos, but everything went great and actually much better than I planned!
The event was beautiful and we really enjoyed the family time. The second night, we were delighted with a beautiful dinner at Hollywood Studios, but the moment that made my day was when my daughter saw Minnie Mouse walking on the red carpet. She was holding her Minnie doll, so after watching Minnie walking, she turned to me and asked: “Mom, is that Minnie?” I said “yes” and then she said: “But, this is Minnie!” gesturing to her doll in her arms.

Thursday, May 16, 2013

National Down Syndrome Society Luncheon Honors Hoda Kotb, Raises $125,000

by Stephanie Webber from
The National Down Syndrome Society (NDSS) had its annual Spring Luncheon in New York City Tuesday afternoon, giving a warm welcome to Today Show Co-Host and Dateline Correspondent Hoda Kotb as its honored guest. Joined by self-advocate Jordyn Dannenbaum as well as many other family, friends, and supporters of the campaign, the event delivered inspiring speeches and raised an astounding $125,000. 
"This is one of those things that you don't really know why you are being honored because there's a huge room filled with rock stars. I mean I was sitting next to Jordyn the whole time, who got honored today. I just felt so lucky to be next to her. To be honored by the group is just terrific," Kotb said of the event. "I actually have an aunt—my mom's sister who's like her favorite sister and I was named after her—my mom's sister has Down syndrome. So its one of those things when you meet someone with Down syndrome all you want is a fraction of their light, of their happiness, of their joy. You hope you can carry on a legacy like that and you realize that you have a lot of shadows in your heart when you meet people who don't. And I think that's what I really took away from it."
The NBC Today Co-Host and Correspondent wrote a speech for the crowd, took pictures with those honored, and was also joined by NDSS Goodwill Ambassador Chris Burke, who played Corky on the TV series Life Goes On.
"I still don't know why I was so lucky enough to be honored, but I do know that was a room full of people that just filled me up and I feel really, really, really privileged."

Wednesday, May 15, 2013

Echevarne to distribute Natera's non-invasive prenatal screening test in Spain

Natera, a leading innovator in prenatal genetic testing, and Echevarne, a leading clinical analysis laboratory in Spain, today announced the signing of a distribution agreement for Echevarne to offer Natera's non-invasive prenatal screening test (NIPT), Panorama™, through its facilities in Spain. Panorama was launched in March 2013 for the detection of trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and select sex chromosome abnormalities, such as monosomy X (Turner's syndrome).

Panorama uses a simple blood draw from the mother, examines cell-free DNA found in maternal blood originating from both mother and fetus, and can be performed within the first trimester of pregnancy, as early as nine weeks, without any risk to the fetus. Panorama's technology analyzes, in a single reaction, 19,500 single nucleotide polymorphisms (SNPs), which are the most informative portions of an individual's DNA. It utilizes the NATUS [Next-generation Aneuploidy Testing Using SNPs] algorithm, an advanced version of Natera's proprietary informatics.

Tuesday, May 14, 2013

Honorary doctorate awarded to athlete and self advocate, Karen Gaffney

from Central Washington University:
On May 5, 36-year-old, Karen Gaffney will receive an honorary doctorate from Oregon's University of Portland. University officials believe she may be the first person with Down syndrome to receive such a degree.
Karen Gaffney
Famed distance swimmer and Down syndrome activist Karen Gaffney has spent her life showing the world that commitment, determination, and vision are the hallmarks of a well-lived life, not believing false limits imposed by other people’s expectations.
Renowned for her extraordinary exploits as a swimmer (she has swum the English Channel with teammates, swam nine miles across Lake Tahoe, and swam across Lake Champlain and San Francisco Bay, among many other feats), she is also a remarkably eloquent speaker and activist for people with developmental disabilities, and president of the Karen Gaffney Foundation in Portland.

Monday, May 13, 2013

Life with Down syndrome is full of possibilities

by Liz Szabo from USA Today:
The lives of the 250,000 Americans with Down syndrome today are radically different than a generation ago.
Tim Norton was devastated when his daughter was diagnosed with Down syndrome shortly after her birth in 2006.He envisioned her growing up tragically disabled. The years ahead seemed filled with darkness.
A chance encounter on a ski slope, just a few months after his daughter was born, changed Norton's outlook on Down syndrome and the prospects for his daughter's happiness.
While skiing near his home in Massachusetts, a gifted teenage skier with Down syndrome, Melissa Joy Reilly, glided past him at the crest of a hill.
Norton had noticed Reilly earlier in the day but said nothing.
"Melissa stopped in front of me and said, 'Hello, how are you?' " says Norton, of Westford, Mass. "I said, 'Great. What a great night to be skiing.' "
And, just like that, Norton's life was changed.
"Without her even knowing it, without her even trying — it was quite remarkable — I got just the positive lift that I needed," says Norton, whose daughter, Margaret, is now 7.
"She opened my eyes to what the possibilities could be for my daughter," says Norton, a ski instructor. "It was like, 'Wow, this isn't a big black hole. This is a girl who can walk and talk and ski.' "Like Norton, many people are surprised to learn of the dramatic improvements in health and quality of life for children and adults with Down syndrome.
Advocates for people with Down syndrome feel a new urgency to spread the word about these advances, as more women undergo prenatal tests for Down syndrome and other genetic conditions.

Sunday, May 12, 2013

Courageous cancer patient, 32, who lived for her baby with Down syndrome passes away on Mother’s Day

Courageous cancer patient, 32, who lived for her baby with Down syndrome passes away on Mother’s Day 
Rogers of Ladue, Mo., was thought to be infertile when she became pregnant with son Tristan. The family celebrated the boy’s first birthday in March.
Jorie Rogers just wanted to live long enough to celebrate her son’s first birthday.
She got her wish, but the mother who wasn’t supposed to be a mother, the mother who wanted only the best for her miracle baby with Down syndrome, lost her battle with cancer on Sunday, her second and final Mother’s Day.
"It's very special because not only are we celebrating my son's first year and everything that he had to go through to get here, but it's the one birthday that I'll get with him," Rogers said in March when she held a carnival-themed party for her son, Tristan. "And we get to celebrate the one year that we had together."
She had stopped treatment in March after doctors told the Ladue, Mo., mother that her paraganglioma, a rare form of cancer that caused dozens of tumors in her body, had advanced to a point of no return.

Saturday, May 11, 2013

Teen with down syndrome honored as homecoming and prom queen

by Kym Clark from CBS Atlanta:
A Mid-South teenager had her dreams come true when she was homecoming queen at Bolivar High School. But Kara Marcum did not stop there. The senior, who was born with down syndrome, also earned the prom queen crown.
Marcum was crowned prom queen on Friday.
But back in January, Action News 5 met the popular senior when she was in the running for homecoming queen.
Her parents never imagined their daughter would receive such high honors when they first learned she had down syndrome.
Her PACE class teacher, Angela Galloway, says Kara's personality is what makes her beloved by the entire school.
Now that she has earned the title of both homecoming queen and prom queen, Kara has her sights set on graduation. She will earn her diploma in just a few weeks.

CBS Atlanta 46

Friday, May 10, 2013

Help Gaps in the Map and get a chance to win an iPad2!

ipad giveaway graphic 

Down Syndrome Affiliates in Action (DSAIA) has partnered with the National Down Syndrome Congress (NDSC) and the National Down Syndrome Society (NDSS) to create the Gaps in the Map Project which is designed to ensure that all families have access to support and information from a local Down syndrome affiliate.

And, to raise funds for this amazing project, we're holding a contest to win an iPad2.  

Here's how you can win...

Give at least $21 to GapsInTheMap ( and you'll automatically be entered to win the iPad2.  It's as easy as that. Every donation, large or small, can make all the difference in helping all families to realize that they are part of a supportive down syndrome community so please give what you can.  To help even more, please forward this email to everyone you know.

The contest goes from May 6th to June 3rd @ 11:59pm EST.

I think that covers it.

Thanks so much.

Gaps in the Map Committee

Click here for all the tedious rules.

 Special thanks to Down Syndrome Today magazine and James McFadden for the donation of the iPad!

Down Syndrome Affiliates in Action
P.O. Box 2122
Bismarck, ND 58502

Copyright © 2013 Down Syndrome Affiliates in Action

Thursday, May 9, 2013

Supermodel spotlights Down syndrome

by Patrick Gavin from Politico:
Supermodel Beverly Johnson is in town this week to raise awareness of Down syndrome in her role as an international spokeswoman for the Global Down Syndrome Foundation, and she wants one thing in particular out of Washington: more money.
“It’s one of the least funded disorders,” Johnson told POLITICO. “There’s just a lot of research that needs to be done, and we need dollars to do it.”
Johnson did her part to raise money for the cause at The Ritz-Carlton in Washington on Wednesday, where she appeared at the Global Down Syndrome Foundation Gala & Fashion Show, featuring Sheryl Crow and Quincy Jones. Reps. Cathy McMorris Rodgers and Chris Van Hollen also were honored with the Quincy Jones Exceptional Advocacy Award for their support of individuals with Down syndrome.
In promotional material for the event, the foundation stated “that Down syndrome is the most frequent chromosomal condition affecting an estimated 400,000 Americans, but is the least funded genetic condition by the National Institutes of Health [NIH], securing only 0.0007 percent of NIH’s 2012 $31 billion budget.”
Johnson, however, is optimistic that Washington can take action on improving the situation.
“We just really want to shine that spotlight and get people to write those checks and to also make Congress aware of the funding that we need for this very serious issue,” Johnson said. “I am very optimistic. I believe in people, and I believe in Congress. … I know that this is something that should be very high on the list and it’s just something that we haven’t made the effort and now we’re making the effort.”
Johnson rose to fame in the 1970s when she became the first African-American woman to grace the cover of Vogue. Given her expertise, we had her weigh in on Washington’s reputation as being “Hollywood for ugly people.”
Johnson treated the District kindly.
“I love D.C.,” she said. “You’re gorgeous.”

Wednesday, May 8, 2013

Inglewood theater group showcases actors with disabilities for Hollywood

Actors with developmental disabilities compete with non-disabled performers to get roles in Hollywood. But disabled actors often are typecast as handicapped characters. Performers enrolled in a theater group in Inglewood want to break out of that box. 
About 90 actors at Performing Arts Studio West are rehearsing more than a dozen pop and classic rock songs for their upcoming show called “Recovered: A Musical Journey.”    
The creative arts adult program they’re part of trains people who have disabilities, including  autism, Down syndrome, cerebral palsy and bipolar disorder.
“A lot of people said, ‘Oh, my God, you have a disability?'" said Nick Daley, 33, who has Prader-Willi Syndrome — a rare genetic disorder.
Daley said he’s often had a tough time proving himself as an actor. Bullies caused him some grief growing up.
“And they used to make fun of me, and they used to piss me off and drive me crazy, and it got to a point where I almost lost it. But, thank God, I didn’t,” Daley said. 
Daley emphasizes that his faith and perseverance have paid off.  The actor just signed on to perform in a second season of the hit FX comedy series “Legit.”

Tuesday, May 7, 2013

Parents Help Detect Sleep Problems In Children With Down Syndrome

from About My Area:
A recent study has found that parents play an important part in screening for sleep problems in children with Down syndrome.
These children often suffer from obstructive sleep apnoea, a condition which affects their breathing during sleep. Health professionals rely on parents' reports about their child's sleep, including restlessness, snoring and other forms of noisy breathing, when screening for the condition.
In the past, there has been some uncertainty among health professionals about the accuracy of these reports. However, this study, by a researcher at the University of Portsmouth, shows parents' reports are backed up by objective measures of activity during sleep and sound recordings.
This finding could help health professionals diagnose the condition, which can lead to an improvement in a child's ability to learn. In some cases, specific behavioural problems are attributed to a child's learning disability, when the cause is obstructive sleep apnoea, a treatable condition.