Intellectually Disabled Get a Say in Drug Trials

from WSJ Live:
New drug trials for disorders like Down syndrome and Fragile X are presenting researchers with a dilemma: how to make sure people with intellectual disabilities consent to join. Amy Dockser Marcus and Massachusetts General Hospital's Brian Skotko discuss.

Fewer barriers constrain those with Down syndrome

from The Tennessean:

Ski instructor Tim Norton was devastated when his daughter was diagnosed with Down syndrome shortly after her birth in 2006.

He envisioned her growing up tragically disabled, the years ahead filled with darkness.

But a chance encounter just a few months later changed his outlook on Down syndrome and the prospects for his daughter’s happiness.

While skiing near his home in Westford, Mass., a gifted teen skier with Down syndrome, Melissa Joy Reilly, glided past at the crest of a hill.

Norton had noticed her earlier but said nothing. “Melissa stopped in front of me and said, ‘Hello, how are you?’ I said, ‘Great. What a great night to be skiing.’”

And, just like that, his life changed.

“Without her even knowing it, without her even trying — it was quite remarkable — I got just the positive lift that I needed,” says Norton, whose daughter, Margaret, is now 7.

Life with Down syndrome is full of possibilities

by Liz Szabo from USA Today:

The lives of the 250,000 Americans with Down syndrome today are radically different than a generation ago.

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

What would Allen think now? by Brian Skotko, MD, MPP

from Brian Skotko, MD, MPP - Blog:
One year has passed since the life of Dr. Allen Crocker ended and his legacy permanently began. During these past twelve months, I have often found myself searching: What would Allen—our friend, mentor, and advocate—think now?
Since his death, our world has witnessed the introduction of noninvasive prenatal testing for Down syndrome. With a simple blood stick performed as early as 10 weeks into a pregnancy, a woman can now learn with near 99% accuracy whether her fetus has Down syndrome. Allen was not anti-technology, nor am I. But, we both had long discussions about the responsibilities our society would have when such a day came.
About four years ago, I remember flying with Allen to Washington, D.C., by invitation of the Joseph P. Kennedy, Jr. Foundation, to discuss the creation of materials that could be consistently given to expectant couples after receiving a prenatal diagnosis of Down syndrome. We all agreed: the information needed to be honest, balanced, and real in order to be believable and used.
Before Allen died, he was able to witness the impressive result of arduous teamwork—Understanding a Down Syndrome Diagnosis. After many years of heated discussion, some of our national Down syndrome organizations joined forces with major medical associations to write this up-to-date booklet, now freely available to expectant women in print and digital formats. The materials could not be interpreted as propaganda issued by parent advocacy groups. No, the booklet had been scrutinized by organizations representing obstetricians, geneticists, and genetic counselors.  And, now, the copyright for the book is owned by the Joseph P. Kennedy, Jr. Foundation and administered by the University of Kentucky's Human Development Institute, both independent entities of the Down syndrome movement.
Allen was pleased.  But, I wonder: what would he think of our actions since then?
Our national Down syndrome organizations have now distanced themselves from the same materials they helped create, even removing all mention from their web pages. For reasons unclear to me, the National Down Syndrome Congress and Global Down Syndrome Foundation have jointly created a new pamphlet filled with factual inaccuracies and unbalanced information, which has not been peer-reviewed by medical organizations. They have replaced clarity with confusion and collaboration with competition. (I serve on the Professional Advisory Council of the National Down Syndrome Congress but was not consulted on the creation of their new materials.)
The National Down Syndrome Society has chosen not to support any materials. Its clinical advisory board did formulate a set of criteria by which it said it would hold companies accountable—a report card of sorts that outlined the responsibilities that came with the new technology. However, the National Down Syndrome Society has since silently removed these criteria from its web page, having lost its own confidence on how to advocate in these controversial times. (I served on their Board for five years, but our disagreements over this issue led to my early departure.)
The result? Expectant couples, at large, are still not receiving accurate, up-to-date, and balanced information, even though it now exists. Prior to these tests, we already knew that approximately 75% of women who received a prenatal diagnosis chose to terminate, but only 2% of pregnant women even got such a prenatal diagnosis. Now, the floodgates are open, and pregnant women across the country are asking their providers to order the test. As of 2008, there were only 240,500 people with Down syndrome in the United States, steps away from being classified as a “rare disease.” I know Allen would have been concerned.
But, he would also point out the successes of local Down syndrome organizations. They have rolled up their sleeves and gone into action, as a national effort imploded.
He would especially applaud his much loved Massachusetts Down Syndrome Congress (MDSC), whose Board he passionately served for more than two decades. The MDSC delivers a copy of Understanding a Down Syndrome Diagnosis to every expectant couple who calls. They have created a comprehensive Parents’ First Call Program, where trained mothers and fathers are available 24/7 to text, speak, or meet, in any language, with understandably frightened parents who just “got the news.” The organization has made connections—built trust—with every maternity hospital in our Commonwealth, often organizing Grand Rounds and hospital lectures. And, the MDSC made history this past summer, passing a state law that will result in our state’s Department of Public Health distributing a copy of Understanding a Down Syndrome Diagnosis, along with information about the MDSC, to every healthcare provider who takes care of expectant couples in Massachusetts. Now, that’s leadership. I hope other groups will follow; the MDSC is there to help.
We are all setting the example for other communities.
While the new tests are just available for Down syndrome and some other trisomies, the genetic revolution is arriving at our doorsteps soon. Should fetuses be tested for breast cancer genes? If genes are discovered to be associated with one’s sexual orientation, should future couples be able to test for “gay fetuses”? Should we just go ahead and decode the whole genome of our nation’s fetuses? What we do now sets the example for what’s to come.

Allen told us all to “carry on.” But, we need to wake up and realize that we cannot just carry on in the same old way. Our times demand bold leadership. Down syndrome organizations need to collaborate on important issues. The history books will write glowing chapters about Allen. But, what are they going to say about us?

read more here

The Buddy Walk on Washington's Impact

This is a family's recount of the Buddy Walk on Washington from the blog Particularly Perfect.

We walked on Washington.  We conquered Capitol Hill.  We spread our message to our Congressman and Senators in an attempt to improve the futures of all people with disabilities.

Congressman Sessions spoke about being a fraternity brother of Pi Kappa Alpha...and I have always been a proud sorority sister of Alpha Xi Delta, but Congressman Pete Sessions, of Texas, reminded me just how amazing greek organizations can be.  Congressman Sessions has two sons, Bill {president of his chapter of Pi Kappa Alpha} and Alex {who just happens to have Down syndrome}.  Holding back tears, the congressman explained how proud he is of his fraternity.  This  weekend, Alex was initiated as an honorary brother.  But his pride reaches beyond that.  The congressman has received texts and emails, from men who have never met Alex, stating they couldn't wait to call Alex their brother.  That is the true meaning of brotherhood.  Ties that reach far beyond friendship.  Inclusion.  At the end of the day, that's all we really desire.  To be included.  All of us.  Despite our differences.

Representative Cathy McMorris-Rodgers has a son, Cole, that just happens to have Down syndrome.  I truly believe that some people have been placed in positions of power to help others.  She is one of those people. Her political strength will no doubt help many people with Down syndrome in years to come.  I am so grateful for her.

Dr. Brian Skotko - I don't even know where to begin...I am in awe of this man.  Dr. Skotko is an amazing doctor but even more amazing brother.  His sister, Kristin, just happens to have Down syndrome.  Dr. Skotko is a board certified geneticist at the Children's Hospital Boston.  He has written books, conducted important studies and quite simply made a huge impact in the lives of people with Down syndrome...and their families.  He couldn't be more amazing...

What was our message?  Sign the ABLE Act.  Today Kayla cannot own more than $2,000.  She cannot be worth more than $2,000.  Truth.  Sad but true.  Why?  She receives medical benefits from the government.  Most people with disabilities have medical benefits provided by the government but are not able to be worth more than $2,000 or they will lose those benefits.  Kayla can't get money for birthday presents.  We can't save for her college or her future.  We cannot leave her our house or a car.  Her grandparents cannot leave her anything in their wills.  She can't be worth more than $2,000.  Well...there is one way to save money for her future...a Special Needs Trust...but this trust has several issues...
1.  It doesn't transfer from state to state should you move.
2.  It is super complicated.
3.  It costs several thousand dollars to set up...so...truth be told, we'd be using every dollar we would have to give to Kayla just to set up the trust.

And why not allow her the same right as everyone else?  Why should we not be able to save for her future?  She is a person, with a voice...and should have the same rights.  This is why we walked.  She is the reason we fight for equality.  We fight for Kayla and her 350,000 friends living in the United States that also have Down syndrome.  We fight for them.  All of them.

If Kayla were of working age today...why work?  Why attempt to be a contributing member of society if she would be penalized for it?  Many people with disabilities are fully capable of working but don't because it doesn't make financial sense because they will lose their medical benefits.  The system is broken and must be fixed.

So what is the ABLE Act?  If passed, it will be a vehicle of savings that is similar to a 529 education account.  It will allow people with disabilities to save for their future without losing their medical benefits.  The one difference is it doesn't have to be used for education...because not all people with disabilities are on a post-secondary education track...and that's ok...but they should not be penalized for trying to be independent, contributing members of society.  That's my soapbox.  I'll step down for a moment...but if you feel inclined, contact your local congressmen and senators and ask them to sign the ABLE Act, for Kayla.

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" (msnbc.msn.com, 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.

Sequenom's MaterniT21 prenatal test

from Bloomberg:

Sequenom Inc. (SQNM) said its prenatal test for Down syndrome will be available in 20 U.S. cities today, two years after an earlier effort was delayed because employees mishandled research data.

The blood test is accurate in detecting Trisomy 21, the genetic chromosomal abnormality that most commonly causes Down syndrome, 99.1 percent of the time as early as 10 weeks into a pregnancy, the San Diego-based company said in a statement. The test, and others that will be able to identify genetic abnormalities early in pregnancies, will alter the debate over abortion, said Art Caplan, director of the center for bioethics at the University of Pennsylvania.

“For many people this test makes it morally, emotionally and psychologically easier to have an abortion,” Caplan said in an interview.

Caplan said future prenatal tests may be able to indicate if the fetus had biomarkers for Alzheimer’s disease, or breast cancer, or other diseases. Those tests will raise questions about what issues will trigger potential parents to choose an abortion. A survey published last month in the American Journal of Medical Genetics showed that only 4 percent of parents with Down Syndrome children regretted having them.

“Ethically, we are now starting to see the shift in the issue of what counts as a medical disorder, what’s significant enough to test for, what’s a genetic disability or just a difference,” he said. “Many in the Down syndrome community would say it’s just a difference.”

from the New York Times:

“The number of American women who will have to grapple with this information prenatally will substantially increase,” said Dr. Brian G. Skotko of the Down syndrome program at Children’s Hospital Boston. His sister has Down syndrome, he said, and he pointed out that these tests could encourage more people to end their pregnancies, causing a decline in the numbers of people with the condition and leading to diminished support for them.

Sequenom’s test, called MaterniT21, would be ordered by doctors, not directly by consumers. All samples will be sent to Sequenom’s laboratory for analysis. The test is expected to cost about $1,900, about as much as amniocentesis.

The company said that privately insured women would have to pay $235 out of pocket, with the company assuming the risk of getting insurers to pay the rest. It is not clear how willing insurers will be to cover this test.

Dr. Skotko's response to GQ magazine's insensitive language

GQ controversy: Down Syndrome comment: MyFoxBOSTON.com

 from Children's Hospital Boston's Pediatric Health Blog:

The following was written by Brian Skotko , MD, MPP, a Physician at Children’s Hospital Boston’s Down Syndrome Program. It’s in response to a feature in GQ magazine that used insensitive language.

On July 15, John B. Thompson of GQ magazine slammed Bostonians as the worst dressed in the nation.  Evidently, our beloved Beantown is actually a “bad-taste storm sewer” where all the worst fashion ideas come to “stagnate and putrefy.”  He further decries, “Boston suffers from a kind of Style Down Syndrome , where a little extra ends up ruining everything.”

Go ahead, GQ, and mock my blue whale-emblemed Nantucket-red pants. Laugh if you want at the loud argyles that I prefer to wear with my black suit. I don’t even care if you dismiss the sexy pink polka-dotted tie that I like to wear with my blue-checkered shirt in clinic. But, whatever you do, do not mess with my sister.



My sister, Kristin, has Down syndrome, and let me explain what “Style Down Syndrome” really is.  “Style Down Syndrome” is smiling when everyone else prefers to frown. It’s spending three summers, in sheer determination, learning to ride a bike because you want the freedom to be like everyone else. It’s singing tunes from Grease at the top of your lungs with your friends. It’s celebrating a third-place victory at a swim meet with as much gusto as the gold medalist.

Style Down Syndrome is strong-willed, persevering, and forgiving—because it has to be.

People with Down syndrome are ridiculed on a daily basis. Although not as obvious as GQ’s sport, children with Down syndrome do not always get invited to birthday parties just because they have Down syndrome. Young adults, freshly minted from high school, sometimes have trouble finding post-secondary opportunities. And, adults with Down syndrome are often the first to be fired when the economy tanks.

All of this comes at a time when people with Down syndrome are achieving previously unimagined successes. They are graduating, working, living and loving within our communities.  So, why do people underestimate their abilities?  It must be because they do not know someone with Down syndrome.

Because, if they did, they would come to appreciate the life lessons that accompany their extra chromosome.

If my friends who are black were mocked, they would not take it. If my friends who are gay were slurred, they would not take it. My 400,000 fellow Americans with Down syndrome have been cheapened, and I will not take it. I invite GQ magazine to introduce its readers to real people with Down syndrome through the My Great Story campaign of the National Down Syndrome Society.

The original GQ piece has been changed, removing the 'Down Syndrome' reference. No explanatory note appears on the page.