Global Down Syndrome Foundation throw a great party!

Heroes  Supporting our kids.

PRESS RELEASE

Nov. 16, 2011, 7:00 p.m. EST

Gladys Knight Performs and Sen. Harkin & Rep. Sessions Receive Awards at the Global Down Syndrome Foundation's Gala & Fashion Show Debut in Washington, D.C.

Supermodel Beverly Johnson, Members of Congress, Beautiful Models Walk Runway

WASHINGTON, Nov 16, 2011 (BUSINESS WIRE) -- The Global Down Syndrome Foundation today honored Sen. Tom Harkin (D-Iowa) & Rep. Pete Sessions (R-Texas) at its inaugural Washington, D.C. Gala and Fashion Show - Be Beautiful, Be Yourself at the J.W. Marriott in Washington, D.C. At the end of the night, Gladys Knight, the Empress of Soul, performed live in front of more than 400 friends of the Foundation. The Foundation's newest spokesperson--supermodel Beverly Johnson--walked the runway alongside her niece, Natalie Fuller, who happens to have Down syndrome. CNN News Anchor Kyra Phillips served as mistress of ceremonies.

Harkin and Sessions, two champions for the cause, received the Quincy Jones Exceptional Advocacy Award due to their strong support and advocacy for the rights of people with disabilities, including people with Down syndrome. Congressman Sessions' son, Alex Sessions received the Quincy Jones Exceptional Advocacy Award for Self-Advocacy based on his staunch support for Down syndrome advocacy and research. Washington's most powerful and influential leaders and professional athletes gathered to support the honorees and Down syndrome research and advocacy.

"I have to say, our 24 models with Down syndrome stole the show and brought the audience to their feet several times throughout the night," said Michelle Sie Whitten, the executive director of the Global Down Syndrome Foundation. "They were escorted by celebrities, athletes and 12 wonderful Members of Congress. We are grateful that it was such an inspiring evening."

The professional fashion show and spring styles were provided by newly opened Walishe Gooshe, a luxury brand fashion boutique recently opened in Washington, D.C. The live auction included trips to Tuscany and Cabo San Lucas, which were provided by the luxury vacation club, Inspirato.

Notable attendees included Congressman Robert Aderholt (R-Ala.), Washington Redskins' Anthony Armstrong and Roger A. "Rocky" McIntosh, Congresswoman Marsha Blackburn (R-Tenn.), The Washington Post's Executive Editor Marcus Brauchli, Congressman John Carney (D-Del.), Congressman Mike Coffman (R-Colo.), Miss Maryland Carlie Colella, Congressman Joe Courtney (D-Conn.), Congressman Scott DesJarlais (R-Tenn.), Congressman Michael Fitzpatrick (R-Penn.), WUSA9 News Anchor's Leslie Foster, Congresswoman Cathy McMorris Rodgers (R-Wash.), Sen. Ben Nelson (D- Neb.), Congressman Alan Nunnelee (R-Miss.), Congressman Ed Perlmutter (D-Colo.), Congressman Jared Polis (D-Colo.), Special Olympics' Chairman and CEO Timothy P. Shriver, Congressman Scott Tipton (R-Colo.), Congressman Fred Upton (R-Mich.), Congressman Greg Walden (R-Ore.), Congresswoman Maxine Waters (D-Calif.), and Sen. Roger Wicker (R-Miss.).

The 2011 Ambassador for the Washington, D.C. event was Alex Sessions, the son of Rep. Sessions, who is a 17-year-old self-advocate and a third generation Eagle Scout. Alex Sessions presented the Quincy Jones Exceptional Advocacy Award to his father. He has won Special Olympic medals in swimming, basketball and track. Three generations of his family were in attendance, and actively support the Global Down Syndrome Foundation.

This year marks the debut of the Global Down Syndrome Foundation Gala and Fashion Show - Be Beautiful, Be Yourself in Washington, D.C. This event recently occurred in Denver, Colo. for the third year and drew notables such as music icon Quincy Jones, Oscar-winning actor Jamie Foxx, Foundation Ambassador DeOndra Dixon, award-winning actor John C. McGinley, supermodel Beverly Johnson, NBA champion and New York Nicks' Chauncey Billups, pro golfer David Duval, and NFL champion Ed McCaffrey.

The Global Down Syndrome Foundation is a public non-profit 501(c)(3) dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education, and advocacy. Formally established in 2009, the Foundation's primary focus is to support the Linda Crnic Institute for Down Syndrome, the first academic home in the U.S. committed to research and medical care for people with the condition. Fundraising and government advocacy that corrects the alarming disparity of national funding for people with Down syndrome are major goals for the Foundation. For more information about the Global Down Syndrome Foundation, please visit us at www.globaldownsyndrome.org .

Background

One in every 691 babies is born with Down syndrome in the United States each year. There are an estimated 400,000 people in the U.S. and millions worldwide with the condition. Despite its frequency, Down syndrome has been the least funded genetic condition by the National Institutes of Health over the last ten years.

SOURCE: Global Down Syndrome Foundation

Be gentle.

Fingers

I just love this photo. Davey is an artist in training. He spends his spare time in the evenings coloring.







Be gentle.

A reason to be thankful, National Adoption Day.

Do you have room in your heart for a child that needs a family?

Did you know Bam Bam was adopted?

PRESS RELEASE

Nov. 15, 2011, 8:00 a.m. EST

Thousands of Children in Foster Care Will Find Forever Families on National Adoption Day

National Adoption Day helps to build awareness and new families for children in foster care

COLUMBUS, Ohio, Nov. 15, 2011 /PRNewswire via COMTEX/ -- From coast to coast and many points in between, thousands of families will celebrate an early Thanksgiving when they expand their families on National Adoption Day, held this year on Saturday, November 19.

National Adoption Day, held annually on the Saturday before Thanksgiving, is a day when courts and communities from across the country open their doors to finalize the adoptions of thousands of children in foster care and celebrate all families who adopt. November is also National Adoption Awareness Month, a time to raise awareness of the 107,000 children in foster care waiting for their forever families.

More than 350 local events are held each year on National Adoption Day in all 50 states, the District of Columbia, Puerto Rico, and Guam. Events range from adoption finalization ceremonies at courthouses to celebrations at local parks and children's museums.

"Through no fault of their own, nearly half a million children are in foster care because of neglect, abuse or abandonment, and 107,000 of them are waiting to be adopted," said Rita Soronen, president and CEO of the Dave Thomas Foundation for Adoption and a founding member of the National Adoption Day Coalition. "The need to find forever families for the children waiting in foster care continues to be critical and that is why movements like National Adoption Day are so important."

Thanks to the efforts of adoption advocates, policymakers, judges and lawyers, more than 35,000 children have been adopted from foster care on National Adoption Day since 2000.

"Every child deserves a loving family and the number of waiting children shows there is still much to be done," said Renette Oklewicz, director of the Freddie Mac Foundation and a founding member of the National Adoption Day Coalition. "It is unacceptable that any youth will spend their childhood without an opportunity for safe, loving and permanent homes. We hope that individuals from all walks of life will consider adoption from foster care, and on this day, help us celebrate foster care adoption."

Many children in foster care move to different families more than three times while in the system and are separated from siblings. Each year, nearly 28,000 of these youth will end up leaving the system when they turn 18 with no family to support them in the future.

Among those joining the National Adoption Day celebration is White Collar actor and 2011 National Adoption Day spokesperson Willie Garson, who adopted his now 10-year-old son, Nathen, from Los Angeles County foster care in 2010. Garson first became interested in adopting after attending Los Angeles' National Adoption Day in 2006.

"While there has been an increase in the number of foster care adoptions over the last five years, there are still far too many children waiting in foster care for families to adopt them," Garson said. "National Adoption Day is about raising awareness of the significant need to find adoptive families for the many children in foster care."

This year, the National Adoption Day Coalition created the "One Day Project" to share videos of inspiration with the thousands of children waiting to find their forever families with stories about what this one day is like. Watch this video ( http://www.nationaladoptionday.org/one-day-project ) to see how this one day has changed actor Willie Garson's life, and the lives of thousands of children waiting in foster care. The coalition is also asking families, adoptees, and adoption advocates to consider sharing their stories about what this one day is like and encourage others to consider adoption from foster care.

For more information about National Adoption Day, events around the country, and foster care adoption, please visit nationaladoptionday.org.

National Adoption Day Coalition Partners: Freddie Mac Foundation, Dave Thomas Foundation for Adoption, Children's Action Network, Congressional Coalition on Adoption Institute and The Alliance for Children's Rights.

SOURCE National Adoption Day Coalition

Be gentle.

Things that make my son happy...........

Include things that always surprise me.

Laying on the carpet with toys.

A new garage sale find

Playing with his new little people set, great garage sale find

My wonderful little man

Be gentle.

The Reckless, Profitable Elimination of Down Syndrome?

The Reckless, Profitable Elimination of Down Syndrome

by Mark W. Leach

November 10, 2011

A new Down syndrome test raises important questions.

As National Down Syndrome Awareness Month has come to an end, the introduction of a new prenatal test risks ending the births of babies with Down syndrome. While promoted as being safer, the current administration of the testing is reckless.

On October 17, 2011, Sequenom, a San Diego–based testing company, rolled out “MaterniT21” in twenty major cities across the United States. Using a technique called “massively parallel shotgun sequencing,” the test identifies fetal DNA in a sample of the mother’s blood and sequences it. The test detects whether the fetal DNA is positive for Trisomy 21, the most common cause of Down syndrome, with the lowest false positives and false negatives of current screening tests.

In reporting on the new test, headlines (for example, here and here) have highlighted how the new test is a “safer” prenatal test for Down syndrome. This is incorrect.

In 2007, the American Congress of Obstetricians and Gynecologists (ACOG) recommended that all women be offered screening and diagnostic prenatal testing for Down syndrome. Noninvasive screening tests for Down syndrome have existed since the 1980s. Like MaterniT21, they use a mother’s blood sample and are just as safe, though less accurate in assessing a fetus’s likelihood of having Down syndrome. In this initial roll-out, Sequenom is only offering its testing to those mothers considered “high risk” due to advanced maternal age, having a family member with Down syndrome, or having already received a “positive” screen result from the existing screening tests. The only way to know for certain whether a pregnancy is positive for Down syndrome, even after receiving a MaterniT21 result, is through invasive testing, usually an amniocentesis or chorionic villus sampling (CVS). Because invasive testing involves inserting a needle into the womb, it has a risk of miscarriage. MaterniT21 does not make invasive testing any safer—if anything, it might increase the risk.

The journal Genetics in Medicine published a Sequenom-funded study on the eve of the new test’s launching. Jacob Canick, one of the study’s leaders,explains how the test is “safer”: “It is possible that with the availability of this new DNA-based test, more women will opt for screening because of the increased safety resulting from far fewer amniocentesis and CVS procedures being performed.” This is the clinical reason cited as justification for introducing the new test: that it will drastically reduce miscarriages from invasive testing. As Dr. Glenn Palomaki, the study’s lead author, put it, “nearly all women with a normal pregnancy could avoid an invasive diagnostic procedure and its associated anxiety, cost and potential for fetal loss.” This quote deserves to be unpacked.

First, “nearly all” pregnancies currently do avoid invasive diagnostic testing. There are millions of pregnancies each year, with 750,000 being considered high risk for Down syndrome, but only 200,000 invasive procedures each year. ACOG made its 2007 recommendations because studies had found that the risk for miscarriage was lower than historically reported when invasive testing was performed at experienced facilities by experienced practitioners. If Sequenom’s goal of reducing the number of invasive tests is achieved, there also will be fewer experienced facilities and practitioners, thereby potentially increasing the risk of miscarriage for those undergoing invasive testing.

Dr. Palomaki’s assurance that “nearly all women with a normal pregnancy could avoid an invasive diagnostic procedure” also deserves consideration. Most parents of children with Down syndrome would object to the crass labeling of their sons and daughters as abnormal. Putting that aside, Down syndrome is but a small fraction of the baseline risk every pregnancy has for what is commonly considered a birth defect. Further, Down syndrome represents only about half of chromosomal conditions identified through invasive testing. This means that for each woman who opts for invasive testing following a positive MaterniT21 result, there could be another woman falsely reassured by a negative result that her child will not have a chromosomal condition.

Sequenom’s test has also been called safer because it can be performed earlier than ever in a pregnancy, as soon as ten weeks. This, however, is another reason for concern.

MaterniT21 can be performed any time from ten weeks forward in a pregnancy. In the research study, half of the samples were from the second trimester, but the test is offered earlier in the pregnancy specifically because it allows for earlier termination. Matthew Rabinowitz is CEO of Gene Security Network, a company developing its own noninvasive prenatal test for Down syndrome. Commenting on Sequenom’s new test, he clinically and candidlystated, “If a couple finds an abnormality, and chooses to terminate the pregnancy, it’s better to do it earlier.” Considering that the majority of women currently receiving a prenatal diagnosis of Down syndrome do opt to terminate, Sequenom’s new test is definitively not safer for the fetus.

For this reason, Sequenom’s product name for the test is rather Orwellian. “MaterniT21” recognizes that the test is for a mother, but provides the opportunity for most women to end their maternal status through abortion.

Sequenom’s justification for its testing is as misleading as the test’s name. In apress release, Harry F. Hixson, Jr., Sequenom’s CEO, said, “We believe that the MaterniT21 LDT will provide physicians and their patients with critical new information to help them make better informed decisions about the patients’ healthcare and pregnancies.” In the study Sequenom funded, however, it noted as an implementation issue that “educational materials for both patients and providers need to be developed and validated to help ensure informed decision making.” This long has been recognized, based on the current administration of prenatal testing.

Study after study has found that a significant number of expectant mothers and their partners do not understand the probability assessments of screening tests, did not expect they would have to make a decision about invasive testing, and, after a positive diagnosis, often are unexpectedly counseled about termination for the first time and rarely informed of the option of adoption. This has led one researcher to conclude that the current administration of prenatal testing does not respect a woman’s right to choose because so many make uninformed decisions. In response, just this summer, both the National Society of Genetics Counselors (NSGC) and the American Academy of Pediatrics (AAP) published new guidelines specifically calling for the delivery of accurate, up-to-date written materials about Down syndrome and referral to parent support organizations when a patient receives a prenatal diagnosis. The NSGC even listed the educational materials that should be provided to patients, but Sequenom has yet to invest in these equally important information resources for expectant mothers undergoing its testing.

Now, other prenatal testing companies have launched testing without providing the balancing resources, but Sequenom has recognized that these resources are needed from the outset of its testing and still does not provide them. Dr. Hixson’s statement simply makes Sequenom one more purveyor of the “prenatal testing sham” that I wrote about earlier this year—justifying prenatal testing as simply providing information while failing to provide all of the needed information. But Sequenom’s motivation for rolling its tests out without the accompanying educational materials makes its actions particularly unconscionable.

Sequenom had intended to launch its test in 2009, when it was being promised as a diagnostic test. On the eve of going to market, however, it had to admit it had manipulated its data. Its stock price plummeted, a shareholder lawsuit followed alongside an SEC investigation, and its research official pled guilty to conspiracy to commit securities fraud. Competitors, such as Gene Security, also are promising similar testing as soon as next year. Sequenom patented its methodology, promising patent battles should these competitors try to roll their tests out. With the launch of its new test, Sequenom’s stock price increased by 4.5 percent.

So, Sequenom having suffered a hit to its reputation and finances, with competitors poised to offer similar testing, pushed MaterniT21 to be the first available test, justifying it on the premise that it was “safer” and would help mothers make informed decisions, but implementing it without the needed educational resources called for by its own paid-for study.

With a potential market of up to 750,000 “clients” initially, and millions if its testing can be shown to be reliable for even low-probability pregnancies, Sequenom stands to reap billions of dollars in revenue. Yet it has not invested even a small fraction of this revenue into the educational materials it recognizes are needed for physicians and patients to make informed decisions about prenatal testing and following a prenatal diagnosis. In offering its testing with the business interest of most women accepting it, and knowing that most will choose to abort, without having been properly informed, Sequenom is participating in the reckless elimination of Down syndrome.

As a laboratory-developed test, MaterniT21 currently is not regulated by the Food and Drug Administration. Therefore, absent public pressure, a lawsuit, or shareholder demands, there is no compulsion for Sequenom to fund the educational resources it recognizes are needed to inform expectant mothers’ decisions. One hopes its leadership will recognize that its current offering of MaterniT21 is reckless, and that investing in the educational resources is a small price to pay for a clear conscience.

Mark W. Leach is an attorney from Louisville, Kentucky, and a Master of Arts in bioethics candidate.  

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Be gentle.