DSA|OC Blog

Eunice Kennedy Shriver National Institute of
Child Health and Human Development (NICHD)

Contact:
Robert Bock or Marianne Glass Miller
301-496-5133
A new Down syndrome patient registry will facilitate contacts and information sharing among families, patients, researchers and parent groups. The National Institutes of Health has awarded a contract to PatientCrossroads to operate the registry. The company has created patient-centric registries for muscular dystrophy and many rare disorders.

People with Down syndrome or their family members will be able to enter contact information and health history in an online, secure, confidential database. Registry participants will be able to customize their profile, update it online, and choose which information they would like to display, including reminders about their own medical care and general information about Down syndrome. They also will be able to compare their own medical information to that of other registrants in a confidential and anonymous manner.

If a participant gives permission to be contacted, clinicians and researchers who are authorized to access the database will be able to contact these individuals to see if they are interested in participating in a research study.

Ultimately, the registry will be able to link to biorepositories of tissue samples and other resources, with the goal of making it easier for patients to take part in clinical studies for new medications and other treatments for Down syndrome.

The contract, which will support the creation of the registry through September 2013, received $300,000 in funding for its first year.

“The new registry provides an important resource to individuals with Down syndrome and their families,” said Yvonne T. Maddox, deputy director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which is funding the registry. “The registry links those seeking volunteers for their research studies with those who most stand to benefit from the research.”

Down syndrome most frequently results from an extra copy of chromosome 21 in the body’s cells. Infants with Down syndrome are likely to have certain physical characteristics, such as short stature and distinctive facial features, as well as health conditions like hearing loss, heart malformations, digestive problems, and vision disorders. Although Down syndrome most commonly results in mild to moderate intellectual disability, the condition occasionally involves severe intellectual disability. In addition, some individuals with Down syndrome age prematurely and may experience dementia, memory loss, or impaired judgment similar to that experienced by individuals with Alzheimer disease.

“Down syndrome is complex,” Dr. Maddox said. “A wide array of scientific expertise is required to address all its aspects in a comprehensive manner.”

Development of a patient registry was a leading recommendation in the 2007 NIH Down Syndrome Research Plan, which sets goals and objectives for the Down syndrome research field. Together with the Global Down Syndrome Foundation, the NICHD sponsored the Down syndrome National Conference on Patient Registries, Research Databases, and Biobanks to solicit the advice of a number of experts from the advocacy community, federal agencies, industry, and the clinical and research communities on how best to establish a Down syndrome registry.

The plan for the registry was supported by the public-private Down Syndrome Consortium, which was established by the NIH in 2011 to foster the exchange of information on Down syndrome research, and to implement and update the Research Plan. Membership on the Consortium includes individuals with Down syndrome and family members, representatives from prominent Down syndrome and pediatric organizations, and members of the NIH Down Syndrome Working group, an internal NIH group that coordinates NIH-supported Down syndrome research.

“We’re grateful to those who provided us with the advice that allowed us to establish a national registry,” Dr. Maddox said. “We are happy that this important step in furthering research on Down syndrome has been accomplished and hope that many families will take advantage of the opportunity to sign up as soon as the registry goes online.”

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; intellectual and developmental disabilities; and medical rehabilitation. For more information, visit the Institute’s website at http://www.nichd.nih.gov/.

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 www.nih.gov.

NIH…Turning Discovery Into Health ^®

DSAOC was thrilled to recently receive a grant through the Cox Cares community giving program, thanks to a Cox employee who has a child with Down syndrome and knows first hand how important DSAOC’s mission is. 

The Cox Cares Foundation, a fund of OneOC, is funded by employee payroll donations that are matched 100 percent by Cox Communications.  Jason Haywood, who has a young son with Down syndrome, nominated DSAOC to receive a portion of the grant funds.

After receiving the funds, DSAOC was also invited to appear on the Cox Community Forum (channel 3 for Cox subscribers) to talk about Down Syndrome Awareness Month and the Orange County Buddy Walk.

DSAOC appointed Ruben Rivas (DSAOC Board Member) and Jacob Braun (Self-Advocate) to be our representatives.  Besides having a great time meeting the hospitable team at Cox, Ruben and Jacob did a wonderful job representing DSAOC and our Down syndrome community.

Click here to watch the DSAOC episode on Cox Community Forum

Earlier this year DSAOC was invited to submit a grant request to Covidien’s local office.  The company is a global leader and best-in-class technology provider for specialists treating a wide range of vascular diseases and disorders.  They also have a commitment to giving back to their community.

DSAOC was thrilled to be one of the recipients of their 2012 grant cycle!  Linda Brownell and her colleague Richard Flask from Covidien came to the DSAOC Center and presented the check to our DSAOC Board President, Janette Mattson, during our 0 to 11 Circle of Friends support and networking group.

The grant will fund our hospital outreach and new parent support materials.  They also provided some additional funding to support our teen/adult computer lab!

The night of the check presentation, some of our adults were here for our Fitness program.  Linda and Richard were thrilled to join in!  What a fun night we had with some great people representing a generous company.

Thank you Covidien!

An Evening at the Encore Dinner Theatre & Club

Presented by Lori & Peter Zappas of the Encore Dinner Theatre and the Pujols Family Foundation, in cooperation with the Down Syndrome Association of Orange County

More than 50 individuals with Down syndrome and their family members joined the Down Syndrome Association of Orange County (DSAOC) at the Encore Dinner Theatre & Club in Tustin on Thursday, June 21, for an exciting live stage show, delicious food and great hospitality!

The “Big Band Swing Show” was a wonderful mix of history, music, singing and dancing.  The full 13 piece band was spectacular and had the entire audience clapping their hands and tapping their feet.  Everyone was dancing in their seats!

And if that wasn’t enough… toward the end of the show our families were invited to the dance floor in front of the stage to show their swinging talents as the Big Band played on… the performers made their way to the dance floor and joined in.  The teens and adults with Down syndrome stole the show with their dance moves!  What an AMAZING evening.

DSAOC is extremely thankful to Lori and Peter Zappas, the owners of the Encore Dinner Theatre & Club, for their generosity and hospitality.  We would also like to thank the Pujols Family Foundation for bringing exciting opportunities like this to so many of our families.  THANK YOU!!

Check out the Encore Dinner Theatre event photo album on our Facebook page:  www.facebook.com/dsaoc

“Suite Nights” at the Angel Stadium of Anaheim

Sponsored by the Klein family and the Pujols Family Foundation

Who doesn’t love going to an Angel’s game?!  The smell of popcorn and hot dogs, the sounds of the crowd cheering on their team – it’s an overall thrill for the senses!

Now, imagine all of that, plus… front row, dug-out seats…

During the month of June, DSAOC was provided with three opportunities to thank some of our dedicated families and volunteers with free tickets to the game in a dug-out suite.

The suite was generously donated to the Pujols Family Foundation by the Klein family.  The Pujols Family Foundation very generously donated it to DSAOC for our use on those designated game nights.  The only downside is the limited number of seats available, as we wish all of our families could have enjoyed this awesome experience!

We are so grateful to the Klein family and the Pujols Family Foundation for allowing us to use this opportunity to thank those that are dedicated in their support of DSAOC.

Check out the Angels “Suite Nights” photo album on our Facebook page:  www.facebook.com/dsaoc

I had to grab some tissues, so be prepared.

This story has been circulating on Blog pages and has now hit news pages.

Let’s all celebrate life and our children with a Banana Split tonight, and let’s think about Ryan and his family, too.

Read story

Eighth Annual Golf Tournament, Banquet & Auction: Monday, June 11, 2012 at Los Coyotes Country Club, Buena Park

Check out our exciting special guests & sponsors!  Want to see what’s on the LIVE Auction list… see below.

• Live Auction items:
  • Foursome at Trump National for the Albert Pujols Celebrity Golf Tournament on July 26 – $6,000 value
  • Play Ball Package at Angel Stadium
  • Autographed Albert Pujols Baseball Bat
  • Access to Pre-game batting practice and tickets to game
  • 2011 World Series autographed Albert Pujols baseball
  • 2 Night stay at the Aria Hotel & Resort with 2 tickets to “Viva Elvis”

If you are interested in joining the “After-Golf Banquet” please e-mail Kellie Perez at kperez@dsaoc.org by Saturday, June 9.

Special Guests:

Generous Sponsors:

Service with a smile at Tim’s Place is truly what you get!

Check out this great article

After meeting with the Pujols Family Foundation earlier this week, DSAOC was presented an exciting opportunity to attend Wednesday night’s Angels vs. White Sox game with Todd Perry, the CEO of the Pujols Family Foundation.

Mr. Perry’s hospitality certainly started things off with a bang, as he led our group to a beautiful suite donated for the evening by Mark Merhab from the Angels Baseball Foundation.

Just when we thought the night couldn’t get any better, Mr. Perry scheduled our families for a surprise visit with Albert Pujols.

I have one word for you…. AMAZING!!!!

Albert met with all of us before the game and was as nice as you can get.  He took the time to shake everyone’s hand, sign autographs and take pictures with our teens and adults with Down syndrome.  Albert truly is an Angel.

Check out the rest of this amazing night by visiting the Pujols Family Foundation Facebook page.

If your child with Down syndrome is between the ages of 4-17 years, they have an opportunity to participate in this exciting and informative study.

As many of you are already aware, researchers from the Down Syndrome Program at CHOC Children’s/UC Irvine have been conducting a study on self-concept in children and young adults with Down syndrome. The research team is still seeking volunteers for this study and are scheduling final study visits for May and June.  Please see the information below on our blog posting for a brief description of the study.  If you have an interest in participating, or if you have questions, please contact Eric Doran at (714) 456-8443 or edoran@uci.edu.

This is a FUN way to support DSAOC!  Please join us.

Want to see how much FUN you could have…?  Watch the 2011 Video.

Purchase your tickets today for the DSAOC Banquet & Auction, immediately following our Eighth Annual Golf Tournament on Monday, June 11 at Los Coyotes Country Club.  The Banquet & Auction is from 4:30-7:30 p.m.  

Tickets are $50 each and include:

• Light Hors d’oeuvres and cash bar on the terrace from 4:30-5:30 p.m.
• Live entertainment and access to our exciting silent auction
• Opportunity to witness our Helicopter Ball Drop at 5:30 p.m.
• Enjoy our special guests, delicious dinner, golf awards and live auction

Register online, download the form, or call the DSAOC Center at (714) 540-5794.

Interested in golf?  Spots are still available! Register for golf

Bringing the kids to the Banquet?  Kids meal tickets are available for $20 each.  Call the Center at (714) 540-5794 to reserve.

PURCHASE HELICOPTER BALL DROP Tickets!

Here’s a sneak peek at some of our special guests and auction items!

This is a GREAT story from a dad’s perspective about his son.  Jon Will is showing the world that he is living well with Down syndrome.

George F. Will talks about “Jon’s Gift”.

Read story

Pujols to expand St. Louis-based nonprofit to three other states

The Pujols Family Foundation has announced that it is expanding its support to Kansas City, Nashville, Tenn., and Southern California.

Read more from Stltoday.com

Defying the Odds

This is a great story about true love.  Lisa has Down syndrome and Hal has Cerebral Palsy… and they both have each other.

Besides being a great story, it also contains some important information on certain implications to getting married when you are currently receiving SSI benefits.

Read “Defying the Odds” from Kansan.com

DSAOC would like to extend a very special THANK YOU to Huy Pham and all of his family members and friends who came out to support their annual family golf tournament.  Through this tournament, the group raised almost $3,500 for DSAOC!

Mr. Pham works at the same company as Dr. Jensen, who has a young daughter, Sarah, with Down syndrome.  When the home location for this family event moved from Nevada to Orange County, Mr. Pham wanted to support a charity that had grown close to his heart through his relationship with the Jensen family.

DSAOC was thrilled to be the benefiting charity of the Huy Pham Family Golf Tournament, and we are thankful to Mr. Pham for his desire to support the programs and services we provide to our community.

Thank you!

Our very own Trevor Hendershot from Irvine gets an awesome job at the Angels Team store.

Way to go, Trevor!!

Read OC Register Article

March 21, 2012 marked a very exciting World Down Syndrome Day!  If you haven’t had a chance to see the UN Webcast, below is the link.

Additionally, NBC New York Nightly News aired a segment.  Check it out below.

DSAOC had an exciting fundraiser on March 24, in honor of World Down Syndrome Day.  We had almost 40 people in attendance, 10 of which were individuals with Down syndrome, including our fabulous DJ WillPower.  The event raised more than $800!

Thank you Trinity Episcopal Church for donating the space, a big thanks to our generous Zumba instructors, Gia and Patty,   and we’d also like to thank the sponsors in attendance which included a jewelry vendor, Bubba Sweets and Jamba Juice.  A photo collage from the event is below.

United Nations Webcast of WDSD 2012

View NBC New York Nightly News WDSD Segment

This is Issac…

Isaac is 11yrs old.  He is a loving and very proud big brother.

Meet Mark…

Mark and his BBF….(Best Brother Forever).

Mark is 7 years old.  He loves electronics, playing frisbee and writing.  He also loves his brother!

Meet Daisy…

Her family loves her, and she loves them.  She has a great smile!