Wednesday, November 30, 2011

Statistically significant: Vinh Nguyen's contribution to DS research


When the statistician for UC Irvine’s innovative Down syndrome program retired last year, its researchers were left in a bind. The group is studying ways to prevent or delay the onset of Alzheimer’s-type dementia in people with Down syndrome, including examining possible links between seizures and cognitive decline.

“We were mid-study when we found ourselves with no statistician and little budget with which to pay one,” explains program manager Eric Doran.

Statistical analysis for the project was critical and especially difficult. Some of the subjects’ dementia had progressed to the point that they could no longer be tested on performance-based cognitive measures. They couldn’t respond to questions, making it hard for clinicians to evaluate them. But that resulted in missing data. How, then, could the team accurately quantify change over time and see whether seizures might play a role?

Enter Vinh Nguyen, then a doctoral student in statistics at the Donald Bren School of Information & Computer Sciences and now the new head of the UCI Center for Statistical Consulting, which aims to help researchers across campus and Orange County with such challenges. He proposed a model to gauge how quickly people were becoming untestable, instead of how fast they declined. Rather than including test scores – which would have been zero for those who couldn’t be quizzed – Nguyen designed a variable to show when they became unable to respond.

“My part of it was to help them find a way to look at patients with and without seizures, to see if those with seizures might have a shorter time before they became untestable,” he says. “That’s what we found.”Although the findings are preliminary, without his involvement they wouldn’t have been possible. The work resulted in a paper that has been accepted for publication in the Journal of Alzheimer’s Disease. Nguyen, as of October an assistant professor-in-residence of statistics, is a co-author.

“We’re very fortunate to have Vinh’s assistance,” Doran says. “Quite frankly, some of the statistical analysis he’s doing goes well beyond the skill level of even the most seasoned investigators. Vinh was able to pick up where our previous left off, and he was pretty ingenious. His creative look at the data enabled us to complete our analysis.”

Nguyen was glad to help: “I’m excited to be involved in studies that not only advance science but also make a meaningful impact in people’s lives.”
He looks forward to doing more such work through the center, providing state-of-the-art statistical expertise in grant preparation, the design of studies and experiments, and data analysis. The center this spring will offer free statistical consulting for campus researchers via a course taught by Dr. Nguyen. Graduate students in the class will be assigned to projects based on their interests and skills.

“It’s a huge benefit to the university because it’s free, and it’s a huge benefit to the statistics graduate program because it gives our master’s and Ph.D. students a chance to exercise their knowledge and training in real-world applications,” Nguyen says. “Learning how to communicate, how to collaborate with folks outside your field – you can’t just lecture about that.

It’s got to be a hands-on experience.”

Colleagues say Nguyen, 26 – whose research interests include survival analysis, robust statistical methods, sequential clinical trials and prediction – was the right choice to run the center.

“It’s a big set of responsibilities for someone so young, but he’s got the ability and maturity level to succeed,” says associate professor of statistics Dan Gillen, who directs statistics research at the Institute for Memory Impairments & Neurological Disorders. It was Gillen who introduced Nguyen, whom he was advising on his doctoral thesis, to the Down syndrome team. “Vinh understands the role of statistics across multiple branches of science, and he’s extremely good at translating a seemingly vague hypothesis into a precise statistical framework.”

A native of Vietnam, Nguyen immigrated to the United States at age 5 and grew up in Garden Grove. A true-blue Anteater, he earned all his degrees at UCI, graduating magna cum laude with a B.S. in mathematics and a B.A. in economics, then obtaining an M.S. and a Ph.D. in statistics. In 2010, he received an Achievement Rewards for College Scientists scholar award, which recognizes UCI’s academically superior doctoral students who exhibit outstanding promise as scientists, researchers and public leaders.

“I feel very fortunate to be here,” Nguyen says. “I’m honored to be given this opportunity to lead the center and help it grow, and to work in a field and a setting that allow me to apply my knowledge.”

2012 Celebrating Differences calendar

from Darien Patch:

About the only thing nine-year-old Sara Davis isn't is idle.

The 3rd grader with Down Syndrome at Concord Elementary in Darien and resident of unincorporated Downers Grove is a swimmer, cheerleader, basketball player, dancer and Special Olympic medalist equestrian rider. And now, for the third year in a row, she's a calendar model.

Sara shares the month of February with her friend David in the 2012 Celebrating Differences calendar, a calendar and organization created to promote abilities over disabilities in area youth. Celebrating Differences, a not-for-profit out of Oswego, was created in 2007 to provides resources, educational workshops, networking and other services for children with special needs.

“It's for kids with all kinds of disabilities,” Sara's mom Marcy said. “That's important because our community is more than just one type of disability.”

For Sara, the calendar is just one activity on a list of many that keeps her—and her mom—busy on a daily basis. On Monday, it's horseback riding at the Hanson Center Barn in Burr Ridge. On Wednesdays, Sara does gymnastics at Elite Gymnastics. Thursday is dance at Expressions Dance Studio in Westmont, and Saturdays are a split between cheerleading on the Believe team out of Naperville and Special Olympics basketball. And whenever she can, Sara squeezes in swimming. That's not to mention the homework—Sara's current favorite subject is spelling, though she changes her opinion on a regular basis—Sara gets from school, either. Add all that up and you get a good idea of how active Sara is. Oh, and she also likes going to church on Sundays.

“She's a very smart, eager and fun-loving girl who wants to be part of her community,” Marcy said.

Sara got interested in the Special Olympics this year after seeing her friend David participate and win a lot of medals. In her first year participating, she's already a medalist, taking a bronze medal in September in the Equitation class, which was a series of skills courses combined with managing and walking her horse.

“She's just like everyone else and wants to be doing whatever everyone else does,” Marcy said.

If you'd like to purchase a Celebrating Differences 2012 calendar, you can do so by following this link.

Calendar helps fundraising for Stepping Stones DS

from Basingstoke Observer:

A Down syndrome support group, Stepping Stones DS, in Hook has launched a calendar to help raise money.

Parents and youngsters take centre stage in the monthly calendar, shot  at Hook House Hotel on London Road. Photographer Kirsty Bowen said: “I had an absolute blast taking photos of the children. They were so well behaved, so happy and just loving life.”

Calendars can be bought online from

Attack the ill effects of the condition, not the people

from World Net Daily:

The foundation of this constitutional republic, as we used to be taught, is individual liberties – as in the Bill of Rights. Enter 25-year-old college student Melissa Reilly, brought to us by health news writer Kimberly Hayes Taylor in "Down syndrome's rewards touted as new (contrary) test looms" (, Sept. 29):

"She travels to represent the Down syndrome community internationally, and is a Special Olympian who brings home gold medals in skiing, cycling and swimming. Additionally, she interns for a Massachusetts state senator and tutors pre-school students with Down syndrome in math and reading."

Darkly, the other "new (contrary) test looming" could greatly lower the future possibilities of more Melissa Reillys. As I previously reported, the new test will enable pregnant women to find out more quickly whether their child will have Down syndrome, and I expect nearly all of these women will abort the child. Right now, 92 percent of American mothers do just that.
The vital reality of having Melissa Reilly among us represents the experiences of other Down syndrome survivors in three recent surveys by doctors at Boston's prestigious Children's Hospital.

Author of the lead study, as Taylor reports, is Dr. Brian Skotko, a clinical fellow in genetics at Children's Hospital. It is his hope – and mine – that "the research on more than 3,000 Down syndrome patients and family members published in the October edition of the American Journal of Medical Genetics, will serve to better inform expectant parents and clinicians providing prenatal care" so that the other looming test will not condemn countless other Melissa Reillys to death.

If this is the first you are reading of what may well become this mass rescue of American lives, the indication is that much of our instant media has found other more titillating subjects on which to concentrate.

Skotko found "that among siblings ages 12 and older, 97 percent expressed feelings of pride about their brother or sister with Down syndrome, and 88 percent were convinced they were (themselves) better people because of their sibling with Down syndrome."

And dig this about a third study of how adults with Down syndrome feel about themselves: "99 percent responded they were happy with their lives, 97 percent liked who they are, and 96 percent liked how they looked."

Testimony from Melissa Reilly: "I love my life 100 percent," she said, explaining that her brothers' and sister's friends are her friends, too, and she accompanies them on outings and vacations.

"I love my life for the things I do, and the places I go. We are one happy, loving family."

To be balanced, Taylor also interviewed Arthur Caplan, a professor of bioethics at the University of Pennsylvania. I know his work well. He and I both write for Free Inquiry magazine, and I also read his tough-minded, empirical work elsewhere.

Taylor writes that Caplan notes these Children's Hospital findings are limited by the fact that "families willing to document their experience in a survey tend to be those with a Down syndrome child on the healthier and more high-functioning end of the spectrum."

Taylor further writes that while Caplan acknowledges the study's "powerful data" and "important perspective," it may not "change people's minds."

That's why I am writing this column – to try to persuade as many as I can not to easily accept the common treatment of Down syndrome and condemn those diagnosed with it to death. How hopeful am I? I am not brimming with optimism. As Caplan reflects: "Even though society has learned more about what Down syndrome (Americans) can do, it still turns out that some prospective parents won't be willing to accept that story. 

"I'm not saying it's not important to tell that story or explore impact on families or what it can mean for the child themselves, but it may not have a huge impact in a society that's so obsessed with perfect children, competition, better performance and plastic surgery enhancement."

Still, Skotko concludes: "These results will be quite shocking to many Americans, who might have some misperceptions about what it means to have Down syndrome. Family members have spoken and have said life is positive with Down syndrome."

I now call upon Dr. Jerome Lejeune, discoverer of trisomy 21, the defective chromosome in Down syndrome. In The Lancet, one of the leading medical magazines in the world, he wrote on Jan. 5, 1980:

"The whole history of medicine is at hand to answer any ... death-doctor. Those who delivered humanity from plague and rabies were not those who burned the plague-stricken alive in their houses or suffocated rabid patients between mattresses. ... Victory against Down syndrome – curing children of the ill-effect of their genetic overdose – may not be too far off, if only the disease is attacked, not the babies" (my book, "Insisting on Life," Human Life Review, 2005).

Melissa Reilly was not attacked. She often travels around the country inspiring not only Down syndrome children and adults but also showing the rest of us that using death as a form of therapy for parents reveals what we are becoming as a people.

It's not too late for us to change.

Friday, November 25, 2011

75 yard touchdown makes a memorable moment

from Yahoo:

What could have been a disheartening loss is now an inspirational story.

A 19-year-old football player with Down syndrome scored the final touchdown of the season for his team — thanks to the outstanding sportsmanship of the opposing team.

It's playoff season for U.S. high-school football teams. When the Myrtle Beach High Seahawks beat the Hilton Head High Seahawks by a staggering 64 to 16, Hilton Head could have been upset about it. Instead, the game ended with the celebration of the teams' joint effort to see one player's dream come true.

Chip Mullen, a Hilton Head senior, has Down syndrome. It was his last game.

The Myrtle Beach coach, Mickey Wilson, swapped do-or-die football strategy for benevolent sportsmanship.

"We saw him out there and we decided to let him score" said Myrtle Beach head coach, Mickey Wilson. "We talked about it amongst our coaching staff and everyone thought it was a great idea."

Wilson told Hilton Head's team to give Mullen a handoff. Hilton Head did — and Mullen ran 75 yards, past Myrtle Beach players, into the end zone.

Mullen scored the final touchdown of Hilton Head's season.

The entire Myrtle Beach team joined Mullen and his team in the end zone to congratulate him.
It wasn't Mullen's first touchdown — he scored a defensive touchdown against Berkeley earlier in the season, in a play set up by the opposition — but Wilson wanted to give him a memorable last game. And it was.

While Hilton Head still lost the game, Mullen made national headlines — and was even highlighted in an ESPN SportsCenter's Plays of the Weekend segment.

"I think it's exceptional. That kid has put in four years of total commitment to our football program," Hilton Head coach Tim Singleton said. "And now he's on SportsCenter. Not many people can say that."

As for Mullen, the excited player didn't leave the field empty-handed that night.

"He came off the field with that ball and didn't let it go," said George Mullen, Chip's father. "He took it home with him."

Canadian Down Syndrome Society’s See the Ability Campaign

from Northern Life:

Holly Wright is just like many other 12-year-old girls.

She shares many of the same thoughts and feelings as other girls her age. She likes Justin Bieber and Selena Gomez, for example. In fact, she likes many of the pop icons adored by other girls her age. Holly, for all intents and purposes, is an average tween. The only thing that sets her apart from her peers is that she was born with Down syndrome.

Down syndrome is a naturally-occurring chromosomal arrangement that has always existed, and is universal across racial, gender and socio-economic lines. It is the result of extra genetic material associated with the 21st chromosome, and its symptoms vary from individual to individual, but it more commonly results in an effect on learning, according to the Down Syndrome Association of Sudbury.

This doesn’t stop Holly from living her life the way it is meant to be lived by an energetic 12-year-old. It has also garnered her national attention. Holly was selected to be the poster girl for the Canadian Down Syndrome Society’s See the Ability campaign. A picture of Holly during her first kayak experience will be posted on 700 billboards across Canada, several of which might be erected around Sudbury.

“We’re really excited about this,” Lisa Wright said. “We thought it was going to be a collage of different children with Down syndrome, but when we were told it was just going to be Holly, it was really exciting.”

Each year, Wright submits a photo of Holly to the Canadian Down Syndrome Society for the organization’s annual calendar publication. She said she chooses photos that feature Holly engaged in the activities that are a part of her daily life.

This year, during Holly’s birthday, she learned to kayak at the family camp on Fairbank Lake, and a photo was captured on her very first attempt.

“It was a beautiful picture, so I decided to send it off to CDSS in hopes that it would make it in the calendar,” Lisa said. “Holly is loving this.”

Holly and her mom were participants in the fifth installment of the Down Syndrome Society of Sudbury’s Buddy Walk, the local effort to recognize 2011 National Down Syndrome Awareness Week, which started Nov. 1 and ends Nov. 7. This week celebrates the lives of Canadians with Down syndrome, who are going to school, working, getting married and making important contributions to the community.

Hundreds of people walked a short distance Nov. 6 for the Buddy Walk. They started at Lockerby Composite School and walked to Health Sciences North and back. The event raised $8,700 for the DSAS.

Ukraine's Early Learning Center for children with Down syndrome

from Kyiv Post:
The first non-government Early Learning Center for children with Down syndrome started its work in Kyiv a year ago, and 320 families from all over Ukraine has already visited it.

The center is not supported by state. “In the beginning we applied to state agencies for help but were said that everything we could get was a state-paid position for a teacher. With Hr 500 salary. We thanked and refused”, says Sergey Kuryanov, the centre’s director and a parent of a child with Down syndrome.

According to Kuryanov some companies in Ukraine are already willing to hire people with Down syndrome. “But the thing is that there are no specialists among people with Down syndrome, that are ready to work,” says Kuryanov. “That is because the possibility of educating children with Down syndrome is usually disregarded.”

According to official statistics, every year 400 babies with Down syndrome are born in Ukraine. And about 250 of them are being dropped when in maternity houses.

Wednesday, November 23, 2011

Everything You Need to Know About the ABLE Act

From the NDSS:

Dear Friends,
The December NDSS webinar will be “ABLE Act 101 – Everything You Need to Know About the ABLE Act” on December 7th at 1pm Eastern.

The Achieving a Better Life Experience (ABLE) Act of 2011 (S. 1872/H.R. 3423) was just introduced in the 112th Congress in both the U.S. Senate and House of Representatives. When passed as a law, the ABLE Act will give individuals with disabilities and their families the ability to save for their child's future just like every other American family, and help people with disabilities live full, productive lives in their communities without losing benefits provided through private insurances, the Medicaid program, the supplemental security income program, the beneficiary’s employment, and other sources. The account could fund a variety of essential expenses for individuals, including medical and dental care, education, community based supports, employment training, assistive technology, housing, and transportation. During this webinar, you will learn the nuts and bolts about the ABLE Act and how you can take action to get the ABLE Act passed into law

  • John Ariale, Chief of Staff, Representative Ander Crenshaw (R-Florida)
  • Jennifer Debes, Legislative Assistant, Representative Ander Crenshaw (R-Florida)
  • Steve Beck, Parent; Board Member, National Down Syndrome Society; Board Member, Down Syndrome Association of Northern Virginia
  • Madeleine Will, Director, National Down Syndrome Society
  • Sara Weir, Senior Policy Advisory,  National Down Syndrome Society
Slides from the presentation will be posted to During the webinar there will be time for Q and A. Please feel free to share this webinar and the login information with anyone you feel may be interested in the presentation.

Please register to attend this webinar.  Seats are limited:


National Down Syndrome Society
666 Broadway, Suite 810
New York, NY 10012

Thursday, November 10, 2011

NDSS Webinar: Oral Health and Down Syndrome 11/14 12pm EST

from the NDSS:

Dear Friends,

This is a reminder, if you have not yet resgisterd that our November webinar will be “Oral Health and Down Syndrome” with Jessica De Bord.  (This is an encore presentation from earlier this year). 

This presentation will describe oral characteristics that are common in people with Down syndrome, ways to prevent dental disease, and tips for finding a dentist and having a successful dental visit.

Jessica De Bord is an Assistant Clinical Professor of Pediatric Dentistry at the Herman Ostrow School of Dentistry of USC. Dr. De Bord is the oral health faculty for the Leadership Education in Neurodevelopmental Disabilities at the USC University Center for Excellence in Developmental Disabilities at Children’s Hospital Los Angeles. She earned her BA from San Diego State University and her DDS from the UCLA School of Dentistry. Dr. De Bord completed her residency training in Pediatric Dentistry at the University of Washington (UW) and Seattle Children’s Hospital, where she served as Chief Resident. During her residency she completed a Certificate in Maternal and Child Health through the UW School of Public Health, an MS in Dentistry, and an MA in Bioethics and Humanities.

Dr. De Bord’s primary clinical and research interests are the oral health of children with developmental disabilities and ethics. She serves on the American Academy of Pediatric Dentistry Committee on Special Needs, is a member of the Clinical Advisory Board of the National Down Syndrome Society, serves on the Children’s Hospital Los Angeles Ethics Resource Committee, and is a board member of the Academy of Dentistry for People with Disabilities. She is a member of the American Academy of Developmental Medicine and Dentistry, the American Society of Bioethics and Humanities, and the American Society of Dental Ethics.

Slides from the presentation will be posted to During the webinar there will be time for Q and A.

Please feel free to share this webinar and the login information with anyone you feel may be interested in the presentation.

Please register to attend this webinar, which will take place on Monday, November 14th at 12pm Eastern.  Seats are limited:

National Down Syndrome Society
666 Broadway, Suite 810
New York, NY 10012

Wednesday, November 9, 2011

Ask your Congress Member to sign onto the ABLE ACT 2011

from NDSC, NDSS, and DADS:

The Achieving a Better Life Experience Act ABLE of 2011 will be reintroduced in the U.S. Senate and House on November 15th.

The ABLE Act of 2011
The Achieving a Better Life Experience Act (ABLE) of 2011 will be reintroduced in the U.S. Senate and House on November 15.

The ABLE Act will give individuals with disabilities and their families the ability to save for their child's future just like every other American family, and help people with disabilities live full, productive lives in their communities without losing benefits provided through private insurances, the Medicaid program, the supplemental security income program, the beneficiary's employment, and other sources.

The account could fund a variety of essential expenses for individuals, including medical and dental care, education, community based supports, employment training, assistive technology, housing, and transportation. 

We need your help! We need you to call your two Senators and Representative  Click here and input your zip code for your Members and ask them to be an original cosponsor of the ABLE Act of 2011.

We've included a call script and all the information you need to make your phone calls.

**Note: Double check to see if your two Senators and Representative signed onto the bill in the last Congress (see below)
Should you have any questions or
feedback you'd like to send us,
please contact Susan Goodman

Congressional Support from the last session:

Sen Brown, Sherrod [OH] - 4/21/2010
Sen Brownback, Sam [KS] - 2/26/2009
Sen Burr, Richard [NC] - 2/26/2009
Sen Cochran, Thad [MS] - 5/26/2010
Sen Collins, Susan M. [ME] - 2/26/2010
Sen Dodd, Christopher J. [CT] - 2/26/2009
Sen Feingold, Russell D. [WI] - 3/15/2010
Sen Gillibrand, Kirsten E. [NY] - 7/30/2009
Sen Hatch, Orrin G. [UT] - 2/26/2009
Sen Isakson, Johnny [GA] - 3/16/2010
Sen Kennedy, Edward M. [MA] - 2/26/2009
Sen Kerry, John F. [MA] - 7/13/2010
Sen Klobuchar, Amy [MN] - 4/21/2010
Sen Landrieu, Mary L. [LA] - 2/24/2010
Sen Lautenberg, Frank R. [NJ] - 4/22/2009
Sen LeMieux, George S. [FL] - 2/24/2010
Sen Menendez, Robert [NJ] - 4/30/2010
Sen Mikulski, Barbara A. [MD] - 5/26/2010
Sen Risch, James E. [ID] - 4/30/2009
Sen Specter, Arlen [PA] - 3/25/2009
Sen Stabenow, Debbie [MI] - 7/22/2010
Sen Tester, Jon [MT] - 9/15/2010
Sen Whitehouse, Sheldon [RI] - 10/1/2009
Sen Wicker, Roger F. [MS] - 3/19/2009

HR 1205
Rep Ackerman, Gary L. [NY-5] - 6/12/2009
 Rep Akin, W. Todd [MO-2] - 3/3/2009
 Rep Andrews, Robert E. [NJ-1] - 3/17/2009
 Rep Arcuri, Michael A. [NY-24] - 7/13/2010
 Rep Bachmann, Michele [MN-6] - 4/22/2010
 Rep Bachus, Spencer [AL-6] - 3/6/2009
 Rep Baldwin, Tammy [WI-2] - 5/7/2009
 Rep Barrett, J. Gresham [SC-3] - 5/13/2010
 Rep Barrow, John [GA-12] - 4/21/2009
 Rep Bean, Melissa L. [IL-8] - 3/18/2009
 Rep Berkley, Shelley [NV-1] - 3/12/2009
 Rep Bishop, Sanford D., Jr. [GA-2] - 5/7/2009
 Rep Bishop, Timothy H. [NY-1] - 5/13/2009
 Rep Blackburn, Marsha [TN-7] - 3/3/2009
 Rep Blunt, Roy [MO-7] - 3/3/2009
 Rep Boccieri, John A. [OH-16] - 5/21/2009
 Rep Bonner, Jo [AL-1] - 3/4/2010
 Rep Bono Mack, Mary [CA-45] - 6/19/2009
 Rep Boozman, John [AR-3] - 3/30/2009
 Rep Bordallo, Madeleine Z. [GU] - 3/12/2009
 Rep Boucher, Rick [VA-9] - 1/27/2010
 Rep Brady, Kevin [TX-8] - 3/6/2009
 Rep Braley, Bruce L. [IA-1] - 7/8/2009
 Rep Brown, Corrine [FL-3] - 3/12/2009
 Rep Brown-Waite, Ginny [FL-5] - 3/6/2009
 Rep Burton, Dan [IN-5] - 3/3/2009
 Rep Calvert, Ken [CA-44] - 4/21/2009
 Rep Campbell, John [CA-48] - 4/2/2009
 Rep Cantor, Eric [VA-7] - 4/2/2009
 Rep Cao, Anh "Joseph" [LA-2] - 7/8/2009
 Rep Capito, Shelley Moore [WV-2] - 3/25/2010
 Rep Carnahan, Russ [MO-3] - 5/13/2009
 Rep Carson, Andre [IN-7] - 3/18/2009
 Rep Cassidy, Bill [LA-6] - 3/4/2010
 Rep Chaffetz, Jason [UT-3] - 4/21/2009
 Rep Chandler, Ben [KY-6] - 4/15/2010
 Rep Childers, Travis [MS-1] - 5/21/2009
 Rep Cleaver, Emanuel [MO-5] - 6/19/2009
 Rep Cohen, Steve [TN-9] - 3/17/2009
 Rep Cole, Tom [OK-4] - 3/19/2010

Tuesday, November 8, 2011

‘Glee’ Star Tapped For President’s Disability Committee

from Disability Scoop:

President Barack Obama is soliciting advice on disability issues from an actress with Down syndrome who has a regular role on Fox’s “Glee.”

Obama said he plans to appoint Lauren Potter, 21, to the President’s Committee for People with Intellectual Disabilities. She is well-known for playing cheerleader Becky Jackson on the hit television show “Glee.”

The committee Potter will join is made up of 21 citizens and 13 federal representatives who are tasked with advising the president and the secretary of health and human services on issues pertaining to Americans with intellectual disabilities.

Potter rose to fame in disability circles in 2009 when she first appeared on “Glee.” The actress had recently graduated from high school when she impressed the show’s creators who decided to bring her back for additional episodes.

The notoriety from “Glee” led Potter to become involved nationally as a self-advocate, speaking out against use of the word “retard” and bullying of people with disabilities.

In addition to Potter, Obama also appointed Julie Petty to the President’s Committee for People with Intellectual Disabilities. A self-advocate from Fayetteville, Ark., Petty is a past president of Self Advocates Becoming Empowered who recently testified before Congress on disability employment issues.
Lauren Potter

Monday, November 7, 2011

My Great Story Buddy Walk Section!

from the NDSS:

The Buddy Walk® is a great time for bringing families, friends and communities together to raise awareness for the acceptance and inclusion of people with Down syndrome. The My Great Story campaign's Buddy Walk section is the perfect way to share your Buddy Walk experience with other walkers and those who couldn't make it in person.

The Buddy Walk blog posts stories from the My Great Story campaign on Buddy Walk Wednesdays - share your story for a chance to be featured! Click
here to check out the Buddy Walk blog.

Click here to visit the My Great Story public awareness campaign and to share your story.

Buddy Walk Organizers:  
Click here to download the My Great Story Buddy Walk flyer to distribute at your Walk and encourage your participants to share their stories!  

Sunday, November 6, 2011

Down syndrome consortium formed with NIH

from NIH News:

National Institutes of Health has joined with organizations interested in Down syndrome to form a consortium that will foster the exchange of information on biomedical and biobehavioral research on the chromosomal condition.

"The idea is to have an open channel of communication between the NIH and those organizations intimately involved with Down syndrome," said Yvonne T. Maddox, deputy director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the agency that will chair the new consortium. "The consortium will allow NIH to inform the Down syndrome community of advances in the field, ongoing studies, and potential avenues for future research. In turn, those who work in Down syndrome research and patient care can share their experiences and ideas for potential research opportunities with NIH."

Down syndrome most frequently results from an extra copy of chromosome 21 in the body's cells. The chance of giving birth to a baby with Down syndrome increases as women age.

Infants with Down syndrome have certain characteristic physical features, such as short stature and distinctive facial features. They are also more likely to have health conditions like hearing loss, heart malformations, digestive problems, and vision disorders. Although Down syndrome is the most common cause of mild to moderate intellectual disability, the condition occasionally involves severe intellectual disability. In addition, individuals with Down syndrome age prematurely and may experience dementia, memory loss, or impaired judgment similar to that experienced by individuals with Alzheimer disease. Because of its far reaching effects on an individual’s health, Dr. Maddox explained, Down syndrome warrants a comprehensive research effort by a wide array of scientific disciplines.

"A single, comprehensive forum will make the research effort to address Down syndrome more effective, minimizing duplication of effort and capitalizing on the knowledge of those with the greatest experience in the field," Dr. Maddox said.

A focus of the consortium will be the implementation of the NIH Down syndrome research plan, which set research goals for Down syndrome, based on previous research accomplishments and the need for research in areas in which evidence is lacking. The consortium will meet two to three times a year.

Individuals with Down syndrome and family members will be represented on the consortium, which will also include the NIH Down Syndrome Working group, an internal NIH group that coordinates NIH-supported Down syndrome research, and representatives from prominent Down syndrome and pediatric organizations.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute’s Web site at

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

Saturday, November 5, 2011

$2.96 million grant to fund research on genes that cause Down syndrome

from Deseret News:

A team of University of Utah investigators has received a $2.96 million grant to fund research on genes that cause Down syndrome and intellectual disability.

The team will study genes and brain structure, as well as the circuitry and chemical signals that lead to the development of Down syndrome.

"We'll be taking a revolutionary first look at how brain circuits are related to behavior, intelligence and brain function," said University of Utah USTAR professor Julie Korenberg. USTAR is a state-funded initiative to support technology and science research in Utah by recruiting top scientists to Utah institutions, as well as funding the construction of state-of-the-art science facilities for research.

Korenberg said this approach to studying Down syndrome is unprecedented and integrates genetics, neuroimaging and cognitive testing into the research. The U.'s team represents internationally recognized researchers from more than 10 different departments. Local families, coordinated through the Utah Down Syndrome Foundation, will participate in the study.

"Our state has an amazing network of support, which includes families, community members and professionals," said Ann Marie Christensen, UDSF board president.

The grant is co-funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Neurological Disorders and Stroke at the National Institutes of Health.

Down syndrome affects more than 400,000 individuals in the United States and is the most common cause of cognitive disability and Alzheimer's disease. There have been significant advances in the understanding of Down syndrome, however, most of those studies have been conducted on mice with an equivalent of the condition. The U.'s study will be looking at the condition in humans.

Team members will also include co-principal investigator and imaging expert Guido Gerig, associate professor of radiology E.K. Jeong, professor of cardiology Jeffrey Anderson, professor of pediatrics John Carey, and professor of pediatrics Nicola Longo.

Friday, November 4, 2011

living to 72


In every non-biological way, Jackie Pepin was a little girl.

She dressed her baby dolls each morning at a group home for people with developmental disabilities.

She adored cheap watches and was proud of her ability to tell time.

She enjoyed coloring books and walking a cockapoo she had named Happy.

Chronologically, however, Ms. Pepin stood out for her advanced age, having lived a dozen years past the average life expectancy for people with Down syndrome.

Ms. Pepin died Saturday at Brandon Regional Hospital, a possible result of blood clotting and other circulatory problems, her family said.

She was 72.

"She was a 5-year-old child in the body of a 72-year-old lady," said her sister, Joan Krowitz.

Without trying, Ms. Pepin spread her satisfaction in simple pleasures to those around her.

Waitresses delivered her regular breakfast without having to take the order: two eggs and sausage, two cups of coffee and white toast. Strangers at the dollar store wanted to buy trinkets for the bright-eyed woman who stood 4 feet 8.

Ms. Pepin was one of more than 400,000 people in the United States born with an extra copy of chromosome 21, resulting in Down syndrome.

As recently as 1983, life expectancy for those with Down syndrome stood at 25, but advances since in surgery and medications have boosted that estimate to 60, according to the National Down Syndrome Society. The oldest living person with the syndrome, Guinness World Records reported in 2009, is Bert Holbrook of Waseca, Minn., who is now in his early 80s.

A stimulating home environment, good health care and family support contribute to longer lives. Ms. Pepin had all of those things, as well something many adults lack: an ability to meet nearly all of her needs.

Among them were the extra napkins she always requested at restaurants, The Catholic Channel, Jeopardy and Wheel of Fortune, even though she could not read.

She enjoyed dancing, especially to her favorite song, Fat Bottomed Girls, by Queen.

Ms. Pepin grew up in Trumbull, Conn., during an era of little hope for Down syndrome children.

"When she was born, the doctor said, 'Institutionalize her — or don't worry about it, because she'll be dead by the time she's 15,' " said Richard Lilliston, the chief executive of Hillsborough Achievement and Resource Centers, which runs the home where Ms. Pepin lived on weekdays.

She interacted with other developmentally disabled people in Connecticut and South Carolina before moving with her mother to the Tampa Bay area in 2000.

She worked at a day program and earned a few dollars a week until her arthritis advanced. The group home gave her a domestic structure. She dressed her baby dolls each day and changed them into pajamas at night and put them to bed.

"It was her motherly instinct," said Krowitz, 76.

She had a friendship with a resident named Tommy. They called each other boyfriend and girlfriend.

She had a disarming way of admitting mistakes.

"I'd ask her, 'Why did you do that?' " her sister said. "She would say, 'I don't know, Joanie. I lost my head.' "

At the hospital, someone asked Tommy why he was crying, Krowitz said.

"He said, 'Because I miss Jackie so much.' "

So do many others, including family members who are traveling to Connecticut from several other states to her funeral.

"Although she was handicapped, she gave us so much more than most people give in their lifetimes," Krowitz said.

Thursday, November 3, 2011

Self Advocate Sheri Brynard's Accomplishments

From The Star:

During the 17th Annual Hamlet Foundation National Awards Ceremony held last week in Johannesburg, Sheri Brynard of Bloemfontein was awarded the President Award for her achievements and work she does in the field of mentally disabled South Africans.

The Hamlet Foundation was founded in 1954 by a group of parents whose children were exempted from normal schooling and today it runs a school for intellectually disabled children, a residential centre for intellectually disabled adults and a protective workshop for intellectually disabled adult workers. Annually, workers and people in the field of the intellectually disabled throughout South Africa are rewarded at a gala night, which also serves as a fundraiser.

Sheri has Down Syndrome and has excelled academically like no other person with Down Syndrome in South Africa. She received her National N3 Matric certificate and went on to complete her N4 and N5 National Diploma in Educare.

Her papers were set and marked nationally and nobody could help her in any way. She also received the highest prestige award from the SA Downs Association, for academic achievement by a person with Down Syndrome, from Hellen Zille.

Sheri has achieved culturally, by being the first person with Down Syndrome to achieve the highest honour in Provincial and National eisteddfods between normal learners.

She has done 90 motivational talks nationally and internationally. She changes people's perspectives of persons with Down Syndrome. She is the ambassador for all people with Down Syndrome in South Africa and serves on the international Down Syndrome board.

Sheri is the only person with Down Syndrome to have a National Educational Diploma where she can pursue her occupation. She is an assistant teacher at a special school.
She also facilitates the self advocacy movement in the Free State.

She has shown that with determination, a positive attitude and a very strong will, one can overcome many obstacles and still reach those goals you set out to achieve. “My mother and my father always expected me to do my best and they supported and helped me to stay motivated every step of the way,” says Sheri.

Sheri Brynard's Graduation Speech:

Wednesday, November 2, 2011

DSAN gives human face to Down Syndrome in Nigeria

from Vanguard:

Few years ago (in Nigeria), mere mention of Down Syndrome in infancy not only gets many parents with such children confused but sends wrong signals that all hope was lost.

The situation was compounded by the fact that many of the children in Nigeria with the condition were being locked up in their various homes to die. The parents never allowed anyone in their neighbourhood to know that there is a child with such health challenge. These children could be likened to some convicts awaiting the hangman’s noose.

They were never allowed to see the four walls of a classroom. Many of them never grew into adulthood. They died at a tender age because people with Down Syndrome may be born with a variety of  defects. About half of all affected children have heart defects, digestive abnormalities, such as a blockage of the intestine, are less common, eye and dental diseases. Worse still, many of the children were seen as witches and wizards.

Nobody wanted to associate with them. The few ones that were seen around were stigmatised  even in their various homes.

Today, the story is different, courtesy of the Down Syndrome Foundation of Nigeria, DSFN. In the last decade, DSFN has consistently embarked on massive awareness campaigns on Down Syndrome in the country. The Foundation which began in a sitting room apartment has been able to break into the walls of so many homes of children with the disorder. Currently, the Foundation caters for over 50 children.

Milestones achieved by the Foundation were last week reeled out by President of the Foundation, Mrs Rose Mordi during its 2011 Awareness Week/ Award night/Fund-raising dinner to mark its 10th year Anniversary.

Mordi said it had been a success story as the Foundation had been able to make impact in families and the society at large.

At the well- attended gala night to raise funds for the proposed Down Syndrome Foundation Resources Centre in Ikorodu area of Lagos, valued Mordi stressed the need to accept these children instead of stigmatising for no reason of theirs.

She called for more awareness so that people in the rural areas can bring their children out for necessary medical and educational attention they deserved.

She said: “Our mission is that in the next 10 years, we would have some of this our children who will stand up to be counted among citizens of this country who has contributed their own share to the development of this country.”

She regretted the fact that many of these children do not grow old in Nigeria due to lack of care.

“There are certain things that can keep these children alive, which include early medical intervention, education, vocational training and early social integration.

If these are not put together, a lot of them might not be able to live, because their condition predisposes them to a lot of medical issue which if not corrected they could die very young. So when the medical issue have been taken care of, there is no reason why they will not leave long.

Speaking on their challenges, Mordi disclosed that there is need for more awareness so that people in the rural area can bring their children out for necessary attention that they deserve.

Calling on Governments, corporate organisations to support, she said “we are dire need of funds to put in place a befitting structure because these children need a specialised equipment and appliances both in medical, educational and vocational training, in which we cannot do it alone. It cost a lot to take care of them that is why they are called children with special needs.

Former Senate President, Pius Anyim Pius who was said to have paid the first rent of the Foundation  and also one of the awardees commended DSFN for the feat achieved, enjoining Nigerians to support the Foundation.

Representative of the Wife of the President, and Wife of the Minister of Health, Dame Patience Goodluck Jonathan, Mrs Osinachi Chukwu noted that the health challenge is here in Nigeria regretted that the problem was initially attached to witchcraft.

She said with early childhood intervention, proper medical care, the quality of life of the children will improve significantly to live a normal life.

High point of the event was  presentation of the resource centre, a purpose-built multi-function, educational and child development facility, set over 4,000 Square metres at Mowo _Nla village, off Ijede Road Ikorodu.

Fourteen people and organisations including Vanguard Health Correspondent, Mrs. Chioma Obinna, were awarded for outstanding contribution to the growth of the Foundation.

Tuesday, November 1, 2011

A Good and Perfect Gift: Faith, Expectations, and a Little Girl Named Penny

Good and Perfect Gift, A: Faith, Expectations, and a Little Girl Named Penny


Down syndrome is sometimes an unexpected outcome of expecting a child. It was for Amy Julia Becker and her husband when their first child, Penny, was born with Down syndrome.

Becker recounts the sometimes difficult and often joyous journey in A Good and Perfect Gift: Faith, Expectations, and a Little Girl Named Penny (Bethany Books, We spoke with Amy Julia in a recent e-mail conversation.

Question: Why did you write the book?
Answer: Although most people do not have personal experience with a diagnosis of Down syndrome, all of us have been disappointed when people we love do not conform to our expectations for them. I wrote A Good and Perfect Gift in hopes that other parents would resonate with themes of accepting our children for who they are rather than who we expect them to become. I also wrote it for individuals who are struggling to find spiritual meaning in the midst of difficult circumstances.

Question: What message do you hope readers will gain from this book?
Answer: I hope readers will leave A Good and Perfect Gift with an expanded understanding of our common humanity and the goodness that comes from receiving one another with love and acceptance rather than based upon performance or achievement. Moreover, I hope the story will challenge our cultural assumptions about human perfection and help readers to desire human flourishing instead.

Question: What has your child with Down syndrome taught you?
Answer: For a long time, I thought Penny was my daughter because I needed to be taught a lesson. But as I write in A Good and Perfect Gift, I eventually realized that if I thought about Penny in terms of lessons I needed to be taught, her existence was all about me. I eventually stopped thinking about her as a lesson and instead thought about her as a child. With that said, she, like my other children, has taught me many things, and some of those things come because she has Down syndrome.
In particular, Penny has taught me about unconditional love. She often walks into a room, takes my hand, looks into my eyes and says, "I love you Mom." And then she goes back to whatever she was doing before. She loves herself too, and I mean that in a good way. Almost everything she does takes more work for her to do than it does for a typically developing child. She gets frustrated sometimes, but she isn't frustrated with herself. For instance, last summer she was with a group of kids learning to play tennis. Or, I should say, she was trying to hit a tennis ball with a racket. I watched for half an hour and she probably hit two of two hundred balls. At the end of the lesson, she beamed, "I hit the ball, Mom!" I wish I could have her attitude. She's also taught me about prayer. At the end of most days, before bed, she puts her head in her hands and prays. She just talks and talks and talks. I crane my neck to listen because I know she'll offer more information about her day in those three minutes than when I'm asking her for details. Her honest and unedited sharing is a model for me.

Question: Have you learned different lessons from your other two children?
Answer: Penny is the oldest of our three children, so I haven't learned as much from William, who is three, or Marilee, who is 7 months old. William is much harder on himself than Penny. He will say things like, "I'm not good at scissors," with a scowl. I've learned not to correct him but instead to try to encourage him: "You're still learning how to use scissors" helps him a lot more than false praise. As I write about in A Good and Perfect Gift, I struggle with perfectionism. I see some of those same tendencies in William, so I hope I'm learning how to give him freedom to make mistakes and take risks.

Question; How is Penny today?
Answer: At this moment, Penny is starting her second week of kindergarten. Every morning she looks at me with wide-eyed delight when she asks, "I get to go to kindergarten again?" She loves school, from the new friends she's making to her one-on-one time with her speech or occupational therapist to learning how to read. She routinely entertains Marilee as I make a meal or do some other housework. She and William act like most brother/sister pairs, I suspect, which is to say that they yell at each other and he pushes her and she erupts into tears fairly often, and they play doctor and house and build towers together like good friends fairly often too. There are times when her impulsivity frustrates me, but on the whole she is a delightful little girl and a wonderful big sister.

Question: How much harder is it to parent a child with a disability than a child without a disability?
Answer: Each of our kids challenges us in their own way. William has temper tantrums, whereas Penny just melts onto the floor in a puddle of tears when she's upset. As I mentioned earlier, William struggles with perfectionism whereas Penny is more accepting of her own strengths and less despondent about her weaknesses. They both communicate well. I wish they both would sleep later in the morning. I don't want to downplay the challenges of having a child with a disability, but in our case, because Penny is our oldest child, it has not felt much harder. She did have more doctor's appointments and therapist sessions as a toddler, and that would have been far more difficult if I had had other children at the time. Her health is also stable, and of course many parents of children with disabilities face ongoing medical concerns for their children.