National Down Syndrome Registry. Research and progress

National Down Syndrome Patient Registry

What is the National Down Syndrome Patient Registry?

The NIH-supported National Down Syndrome Patient Registry will allow people with Down syndrome and their family members, researchers, and parent and support groups to share information and health history in a safe, confidential, online database. Users will be able to create and edit their customizable online profiles, share their profiles with other Registry users, and set reminders for medical care and other appointments and events. The Registry will also provide access to general information about Down syndrome, as well as de-identified statistical data based on user responses to survey questions.

When will the National Down Syndrome Patient Registry be available?

Currently, the anticipated launch date for the Registry is July 2013.

Who can access the Registry?

Those with Down syndrome and their families will need to provide their consent for the Registry before they can create their password-protected profiles. If a user gives permission to be contacted, then clinicians and researchers who are authorized will contact these individuals to see if they are interested in participating in research studies. The Registry will comply with all regulations and laws governing privacy, personally identifiable information, and health data.

Why do we need a National Down Syndrome Patient Registry?

Creating a national registry was a primary recommendation of the 2007 NIH Down Syndrome Research Plan, which helped set goals and objectives for the Down syndrome research field. The development of the national registry was also supported by the Down Syndrome Consortium, a public-private partnership established in 2011 to further the exchange of information on Down syndrome research and to implement and update the Research Plan.

http://downsyndrome.nih.gov/registry/Pages/default.aspx

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This COULD happen to your child

Could this really happen to your child?  You bet.  How do we prevent this from happening to your child?  You tell me?  I am in shock that the people we teach are here to protect our children caused the death of this young man.  What can you do?  What can we do?

Autopsy report gives details in death of man with Down syndrome at Md. theater

By Theresa Vargas, Published: March 27

Robert Ethan Saylor didn’t like to be touched, and suddenly an off-duty deputy had his hands on him. Within moments, two more deputies would grab him, the four men would fall in a heap on the floor, and Saylor, who had been shouting and resisting their attempts to restrain him, would grow quiet and still.

More than two months after a man with Down syndrome died at the hands of three off-duty Frederick County sheriff’s deputies, these details about his death emerged in an autopsy report released this week. The 11-page report, which offers the most comprehensive account yet on how the 26-year-old who went to see a movie ended up dead, was made available Tuesday, the same day local and national advocacy groups met with the U.S. Department of Justice to discuss the need for better police training.

Saylor, who loved the TV show “NCIS” and was so fascinated with the police that he would sometimes call 911 just to ask a question, had been watching “Zero Dark Thirty” at a movie theater last month. As soon as it ended, he wanted to watch it again. When he refused to leave, a theater employee called three off-duty Frederick County sheriff’s deputies who were working a security job at the Westview Promenade shopping center and told them that Saylor either needed to buy another ticket or be removed. Saylor had gone to the movies with his aide, but a lawyer for Saylor’s family said she was getting the car when the confrontation started.

The autopsy report says that Saylor, who was 5-foot-6 and 294 pounds, had a “medical history of Down’s syndrome with ‘anger issues’ (especially when confronted or touched).”

When one of the deputies asked Saylor to leave, he started yelling and cursing, the report says. As the three deputies tried to restrain him and lead him from the theater, the four fell “on a slightly inclined ramp at the side of the theater” and, during the struggle, the deputies placed three sets of handcuffs on Saylor, it says.

“At some point while restrained and prone, he stopped struggling and was noticed to be unresponsive by the deputies,” the report says. “At some point they rolled him over and could not find a pulse, took the handcuffs off and started chest compressions.”

Saylor was later pronounced dead at a hospital. In February, the state Chief Medical Examiner’s Office in Baltimore ruled Saylor’s death a homicide as a result of asphyxia. Since then, the case has drawn national attention from parents of children with Down syndrome, and more than 1,000 angry messages fill the Facebook page of the Frederick County Sheriff’s Office. One simply reads: “Murderer.” Another: “I will no longer teach my children that the police are their ‘friends.’ ”

The sheriff’s department conducted a criminal investigation into the actions of the deputies — Lt. Scott Jewell, Sgt. Rich Rochford and Deputy 1st Class James Harris — and turned over the findings to the Frederick County state’s attorney’s office. On Friday, State’s Attorney J. Charles Smith said a grand jury convened, hearing testimony from the three detectives and reading 17 witness statements. It concluded that no criminal charges were warranted.

As of Monday, the deputies, who had been placed on paid leave, were assigned to administrative duties pending the outcome of a separate internal investigation, a spokesman for the sheriff’s department said.

The autopsy report, which could not be released until the criminal investigation was closed, says Saylor “was already compromised by his Down’s syndrome, obesity, body habitus, and heart disease, making him more susceptible to sudden death in stressful conditions which would compromise his breathing.” It also details a series of cuts and bruises on Saylor’s body but does not discuss their origin. He had abrasions on his nose, back of the head, abdomen, back and left elbow. He also had bruising on his forehead.

“The bottom line for me is no matter what the mechanism of death was, they should have just walked away,” said Joseph Espo, an attorney for the Saylor family. “He wasn’t bothering anybody until they tried to do something.”

On Tuesday, four groups and representatives of the Saylor family met with the Justice Department for two hours. The discussion centered on the need for a training program for police departments across the country to “prevent another tragedy of this nature happening again in the future, in any town in the United States,” according to a news release from the National Down Syndrome Society on Wednesday.

“Ethan deserved to be a welcomed member of his community,” Sara Weir, a vice president with the organization, said in the release. “We join the rest of the Down syndrome community in their sadness and outrage as we act for positive change.”

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Did you know? Down Syndrome fact

Down Syndrome Fact.......
"What causes Down Syndrome?"

The Chromosomal Basis of Down Syndrome

To understand why Down syndrome occurs, the structure and function of the human chromosome must be understood. The human body is made of cells; all cells contain chromosomes, structures that transmit genetic information. Most cells of the human body contain 23 pairs of chromosomes, half of which are inherited from each parent. Only the human reproductive cells, the sperm cells in males and the ovum in females, have 23 individual chromosomes, not pairs. Scientists identify these chromosome pairs as the XX pair, present in females, and the XY pair, present in males, and number them 1 through 22.

When the reproductive cells, the sperm and ovum, combine at fertilization, the fertilized egg that results contains 23 chromosome pairs. A fertilized egg that will develop into a female contains chromosome pairs 1 through 22, and the XX pair. A fertilized egg that will develop into a male contains chromosome pairs 1 through 22, and the XY pair. When the fertilized egg contains extra material from chromosome number 21, this results in Down syndrome.

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Down Syndrome Fact.....Did you know?

Did you know that research into Down Syndrome by the National Institute of Health is one of the least funded conditions in the conditions in the United States?

• NIH research funding for Down syndrome in fiscal year 2010 equaled $50 per each American living with the genetic condition. In contrast, NIH research funding for other conditions per each American with such conditions equaled:
• $137 for Autism
• $573 for Fragile X, a genetic condition that leads to developmental disabilities
• $2,867 for Cystic Fibrosis
• $322 for Multiple Sclerosis

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"Down Syndrome the Big Picture" A chance to advocate for our kids.

I found another great opportunity to advocate for our kids.  With World Down Syndrome Day approaching in a couple months, March 21, a dad has come up with a creative way to educate folk about Down Syndrome.  If you are a parent of a child with Down Syndrome, share your experience HERE.  If you want to learn more about "The Big Picture", check out this LINK.

xFROM AROUND THE WORLDUpload your photos and join the families and friends that have uploaded from all over the world.Upload Your Photos

• Down's Syndrome Association
• Down Syndrome International
• Hereward Stationers
• Darragh Macanthony
• Studio One
• Growborough
• Mattoni's Restaurant
• City and County Estate Agents

• To educate, inform and entertain though art and photography
• Model release form.
  DS BIG Picture Photo.
  Press Release.
• DONATE Peterborough area DS group.
  DONATE Down's syndrome Association.DONATE Down Syndrome International

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Did you know? Down Syndrome fact

Did you know?

Life expectancy for people with Down syndrome has increased dramatically in recent decades - from 25 in 1983 to 60 today.



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Raising Awareness in far away lands

I know we are raising awareness in my local community.  But how is awareness raised in communities in far, far away.  Down Syndrome does not discriminate.  All communities need help raising awareness.

Here is what one community in Namibia is doing to raise awareness about Down Syndrome.  Amazing read.

Namibia: New Group Raises Awareness of Down Syndrome

It is estimated that one out of every 650 babies born in this part of the world has the extra chromosome which causes Down syndrome (DS). That one extra chromosome is the cause of much havoc in the person’s body, from serious medical problems to a whole range of developmental challenges.

“Unfortunately society does not see the person, they see DS. They see a person who looks different, speaks perhaps not so clearly or not at all, a person with less social filters who expresses him or herself emotionally more freely. They see the Down syndrome and not the person, although people with DS are people just like you and me,” says Eline van der Linden, a founding member of the association and mother of five-year-old Namashiku, who has DS.

If one in 650 children born in Namibia has DS, there should be about 3 400 people with DS in the country. But with the current lack of information, advocacy and medical care, only 35 percent of these children will live beyond the age of two. Considering these statistics there are currently about 1 000 people with DS in Namibia.

“There is so much opportunity in Namibia to make a difference for people with DS and to create openness in society about DS,” van der Linden says.

The Down Syndrome Association of Namibia hopes to help create that openness in society.

“In Namibia we can jump the learning curve, finding applications that work for us, drawing from achievements of Down syndrome associations the world over and Down Syndrome International, which brings us all under one umbrella,” she says.

They aim to get to a point where a person with DS can say: “Down Syndrome, yes I have that, but it did not stop me from living my life to the best of my ability. I was looked after by health professionals who knew what to do with me. I was welcomed by my local kindergarten and also at our local school. I learned how to read and write and many other important things. I have friends and family who care about me. It is not about what I cannot do, but what I can do.”

The association will reach out to the government, private sector and the public to change perceptions about people with Down syndrome. They will facilitate opportunities for self-advocacy by people with DS.

They will also facilitate parent-to-parent or caretaker support. They will grow the support network, helping each other by sharing experiences, contacts of service providers and emotional support.

The Association will continue to have dialogue with education professionals, institutions and the government on inclusive and integrated education models. They will also organise fun social activities for people with DS and their families, caretakers and friends.

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Step Up for Down Syndrome!

Step Up for Down Syndrome!  Are you gonna step up?  Our family will be there.  Hope to see you too.

Event Information

Event Info: This is your big chance to give back! DSIA needs your help raising funds to continue our programs and outreach into 2013 and beyond. Your participation not only increases awareness and celebrates hope, it also ensures that DSIA will be able to continue to provide support, education, resources, and much-needed (and loved!) events to our community. 'The Step Up walk is a blast! We love coming to hang out with our friends and family, and every year we make new friends. The best part… by raising money to support DSIA, I know we're supporting the Down syndrome community as a whole.' – A Local Mom Event Location: William Land Park, Village Green (at the corner of Sutterville and Freeport) Need directions? Click here for a map Event Schedule: Day of Registration 11/3/2012 9:00 am - 10:00 am Event Begins 11/3/2012 10:00 am - 10:30 am Walk Begins 11/3/2012 10:30 am - 11:00 am Lunch 11/3/2012 11:00 am - 12:00 pm Fees: Adult Registration (ages 11 and up): $15.00 General Registration - non refundable, add $5.00 late fee after 10/21/2012 Child Registration (ages 10 and under): $8.00 General Registration - non refundable, add $2.00 late fee after 10/21/2012

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There's that word again..............

We talked about it before.  End the use of the R-word.  I cringe every time I hear it.  Change the R-word to RESPECT.  Spread the word to end the use of the r-word.

If you have checked out the web site R-Word.org, they have some wonderful items for sale such as t-shirts and mugs.  I purchased a couple of t-shirts for my family.  I love wearing them.  They are a good quality shirt, the graphics are great, and I love the message on them.  I first saw these shirts at a Special Olympics event.  I just had to have one.

I was wearing one of my shirts the other day while I was grocery shopping.  At the checkout, the clerk saw my shirt.  She asked me about it.  I started into my regular "speech" about the R-Word.  She stopped me part way through. And began telling me her story of her son and his struggles through school.  One of the administrators hat the school had called her son retarded.  Her son was now twenty.  She was devastated.  It stayed with her.  I saw the hurt in her face.  Wasn't there a better way to discuss her son's struggles in school?  I think so........

So, I was interested to see that yesterday, the R-Word hit center stage in the media.  And a young Special Olympian took it upon himself to educate and advocate.  Continue on to read this inspiring young man's words.

Special Olympian with Down Syndrome shames Ann Coulter over calling Obama ‘retard’ 

The incendiary conservative pundit stood by her use of the slur Tuesday, but John Franklin Stephens challenged her to attend the Special Olympics and leave with an unchanged heart.

CHIP SOMODEVILLA/GETTY IMAGES

A Special Olympian with Down Syndrome castigated right-wing flamethrower Ann Coulter for calling President Obama a 'retard' after the final presidential debate.

A Special Olympics athlete with Down syndrome has shamed conservative pundit Ann Coulter in an open letter after she called President Obama a “retard” this week.

“Come on Ms. Coulter, you aren't dumb and you aren't shallow,” wrote John Franklin Stephens in a blog post. “So why are you continually using a word like the R-word as an insult?”

Stephens, 30, told Coulter that he has “struggled with the public's perception that an intellectual disability means that I am dumb and shallow.”

“I am not either of those things, but I do process information more slowly than the rest of you. In fact it has taken me all day to figure out how to respond to your use of the R-word last night.”

Coulter used the offensive term when commenting about the final presidential debate on Twitter.

“I highly approve of Romney's decision to be kind and gentle to the retard,” Coulter wrote Monday night.

WILL SCHERMERHORN/SPECIAL OLYMPICS, INC

John Franklin Stephens is a Special Olympics athlete.

Despite widespread outrage about the tweet, Coulter doubled down on her word choice on Tuesday.

“If he's ‘the smartest guy in the room’ it must be one retarded room,” she wrote about Obama.

In his open letter, Stephens wondered whether Coulter had used the word to suggest that President Obama was “bullied as a child by people like you” or that he “has to struggle to be thoughtful about everything he says.”

“After I saw your tweet, I realized you just wanted to belittle the President by linking him to people like me,” he wrote. “You assumed that people would understand and accept that being linked to someone like me is an insult and you assumed you could get away with it and still appear on TV.”

“Well, Ms. Coulter, you, and society, need to learn that being compared to people like me should be considered a badge of honor,” he said.

Stephens invited Coulter to attend the Special Olympics, challenging her to “walk away with your heart unchanged.”

Coulter has not yet publicly responded to the open letter, which Stephens signed “a friend you haven’t made yet.”

The conservative commentator has a long history of using inflammatory and offensive language.

Her latest insensitive remark comes just weeks after she was criticized for joking that national “coming out” day would be followed by national “disown your son” day.

klee@nydailynews.com

← Budding Young Athlete Growth in Special Olympics Nippon

An Open Letter to Ann Coulter

Posted on October 23, 2012 by Tim Shriver

John Franklin Stephens

The following is a guest post in the form of an open letter from Special Olympics athlete and global messenger John Franklin Stephens to Ann Coulter after this tweet during last night’s Presidential debate.

Dear Ann Coulter,

Come on Ms. Coulter, you aren’t dumb and you aren’t shallow.  So why are you continually using a word like the R-word as an insult?

I’m a 30 year old man with Down syndrome who has struggled with the public’s perception that an intellectual disability means that I am dumb and shallow.  I am not either of those things, but I do process information more slowly than the rest of you.  In fact it has taken me all day to figure out how to respond to your use of the R-word last night.

I thought first of asking whether you meant to describe the President as someone who was bullied as a child by people like you, but rose above it to find a way to succeed in life as many of my fellow Special Olympians have.

Then I wondered if you meant to describe him as someone who has to struggle to be thoughtful about everything he says, as everyone else races from one snarkey sound bite to the next.

Finally, I wondered if you meant to degrade him as someone who is likely to receive bad health care, live in low grade housing with very little income and still manages to see life as a wonderful gift.

Because, Ms. Coulter, that is who we are – and much, much more.

After I saw your tweet, I realized you just wanted to belittle the President by linking him to people like me.  You assumed that people would understand and accept that being linked to someone like me is an insult and you assumed you could get away with it and still appear on TV.

I have to wonder if you considered other hateful words but recoiled from the backlash.

Well, Ms. Coulter, you, and society, need to learn that being compared to people like me should be considered a badge of honor.

No one overcomes more than we do and still loves life so much.

Come join us someday at Special Olympics.  See if you can walk away with your heart unchanged.

A friend you haven’t made yet,
John Franklin Stephens
Global Messenger
Special Olympics Virginia

EDITOR’S NOTE: John has previously written powerful opinion pieces on the R-word.Read one here.

Be gentle.