Blog The views expressed on my blog are my own and do not reflect the views of my employer.

Don’t Mock my T-shirt Either!

Published on Wednesday, 26 June 2013

sevenlyThis week, a purchase from Sevenly will provide a booklet that gives critical information to expectant parents who have recently learned about a prenatal diagnosis of Down syndrome. With your support, parents will receive tools and support to understand a prenatal diagnosis. Your purchase will give much more than a book, it will give a lifeline.

New blood tests, known as non-invasive screens (NIPS), are leading to more and more women receiving a prenatal diagnosis of Down syndrome. Sequenom recently reported that its MaterniT21 Plus test has now been run more than 100,000 times.  As a physician in the genetics community, I appreciate that these tests can help women avoid procedures such as amniocentesis or chorionic villus sampling that carry a small risk of miscarriage. However, with this growing industry of prenatal testing, I care deeply about whether patients are receiving accurate, up-to-date, balanced information so they can make informed decisions.

As a medical professional, I am not in the business of telling expectant couples what pregnancy decisions they should be making when their fetus has Down syndrome; however, I do want to make sure they understand what a diagnosis of Down syndrome truly means. When my research colleagues Sue Levine, Rick Goldstein, and I surveyed more than 3,000 families nationwide who have a member with Down syndrome, 99% of parents said they truly love their son or daughter with Down syndrome; 88% of brothers and sisters said they are better people because of their sibling with Down syndrome. People with Down syndrome themselves shared their feelings too: 99% are happy with their lives, and 97% like who they are. My sister with Down syndrome certainly does.

Fortunately, the solution has already been created to make sure expectant parents learning about a prenatal diagnosis of Down syndrome get the information they need. The medical community has helped create the gold-standard Lettercase book, Understanding a Down Syndrome Diagnosis, with accurate and balanced information for expectant couples. The books are available in English and Spanish and cover common medical conditions for people with Down syndrome, available health and education services, resources, and authentic photos of people with Down syndrome in their communities. But, our biggest challenge is actually getting a copy into the hands of every medical professional and patient who might need it.

For this week only, a purchase through Sevenly will provide a Lettercase booklet to an expectant mother’s medical professional. Sevenly has received write-ups in Forbes and the L.A. Times.

So, please join in this effort by purchasing a t-shirt or sharing on your social networks this week.

Categories: News

What would Allen think now?

Published on Monday, 12 November 2012

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.

lettercase bookletBefore 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 pamphletfilled 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 comprehensiveParents’ 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?

Categories: News

Our Buddy, Dr. Allen Crocker (1925-2011)

Published on Tuesday, 25 October 2011

allen crocker portraitI miss him so much already. While October 23, 2011, marked the end of Dr. Allen Crocker’s profound life, it triggered the official beginning of his timeless legacy. He was a lover and a healer, a poet and a dreamer, a fighter and a defender. He was our buddy, whether we knew him personally or not.

When I arrived in Boston for medical school, I was determined to know him. I had heard him speak at national conferences before, but this was my chance to really meet the legend in our Down syndrome movement. After my parents had dropped me off—and before all of my bags were unpacked—I walked to his office at Children’s Hospital Boston, but what I didn’t realize was that Allen would quickly become my mentor, my colleague, and, most preciously, my friend.

He taught me you get when you give. No sooner had I begun medical school, Allen was driving me to Board meetings for theMassachusetts Down Syndrome Congress. Me, a Board member?Allen showed me that while my classes at Harvard Medical School were important, richer lessons were to be found in this non-profit, parent-driven organization. For the past ten years, I have learned more from the families of the MDSC than I will ever be able to repay. As I sat by his bedside during some of his final days, Allen still asked me how the “boys and girls of the MDSC” were doing. He never believed that doctors should be stuck in hospitals.

He taught me to be unsatisfied. Our friends with Down syndrome deserved to have their mysteries unlocked, so Allen would push me to find the answers. I would arrive at his office regularly at 7:30 a.m., prompt, to share my far-flung ideas about projects that I was considering. Allen told me that I was not crazy. In fact, I was not crazy enough. He prompted my research trip to Spain because he knew—before I did—that the journey would be formative. Allen remained my research mentor since that first project, and during my last visit to his bedside, I shared with him three papers that were six years in the making. He helped shape this project, and I told him that I would keep asking questions.

He reminded me to believe in myself. Life cannot be scripted. Allen knew that, and I think, preferred that. But, sometimes, I wish I could have avoided certain dramatic scenes in my own life. I remember that after sharing one tough day with Allen, he told me that I must meet him at a local Dunkin Donuts. Right there, on napkins, he sketched out for me his view of the situation. And, then, he looked me in the eye and told me that I was special. I needed that, no matter how much validation I might have found elsewhere. Allen taught me that our most graceful moments in life could be found during the most trying times.

He told me to seek unexpected cheer. Every so often, Allen would meet with me to review my career plans. I would write down some goals that I would hope to accomplish within the next year or so. Yet, after we got through those items quickly, he would ask me about more important life goals. He seemed more pleased when I told him that I was trying to learn Spanish, that I liked to make cold soups, and that my wife, Carrie, and I were taking dance lessons. And, he was right: my academic accomplishments will always pale in comparison to these private goals. Carrie and I still remember with great fondness when Allen, unannounced and unexpectedly, took to the podium at our wedding and reminded us all of the importance of “good cheer.”

And so, today, I have the remarkable privilege of working as a physician in the Down Syndrome Program at Children’s Hospital Boston, a program and a place where Allen shared his wisdom and his heart for decades.And, it is already here on a weekly basis that I see his legacy at work. They may not all know it, but children with Down syndrome have more opportunities today because of Allen. Parents have fewer battles to fight because Allen tore down walls. Grandparents play leading roles because Allen understood them to be central figures in family life. Brothers and sisters become advocates because Allen established precedents.

He would be the first to remind us that we all need to “carry on.” I will. We must. And, he will be right there with us.

Categories: News

Let’s get real about Down syndrome!

Published on Friday, 23 September 2011

In mere months, pregnant American women might be able to learn if their fetuses have Down syndrome with a simple blood test. The test will be perfectly safe, eliminating the small, but real, chance of miscarriage that comes with our current diagnostic options. If these tests do become a routine part of obstetric care, thousands of expectant parents will be receiving a phone call from their healthcare provider each year with this message: your fetus has Down syndrome.

That will be a panicked moment, according to women studied in previous research. But, what should healthcare professionals say about Down syndrome? What does it really mean to have Down syndrome? Six years ago, Sue Levine, Dr. Rick Goldstein, and I set out to find the answer to that question. Rather than let Rahm Emmanuel or GQ Magazine have the final word on what life is like with Down syndrome, we spoke to the people who truly understand.

We mailed surveys to families around the country, and 3,150 mothers, fathers, brothers, sisters and people with Down syndrome responded. Here is just a sample of what we found.

• 99% of people with Down syndrome said they were happy with their lives
• 97% of people with Down syndrome liked who they are
• 99% of parents said they love their child with Down syndrome
• 5% of parents felt embarrassed by their child
• 97% of brothers/sisters, ages 9-11, said they love their sibling

*All of the surveys’ results have just been published in the American Journal of Medical Genetics.

Prenatal decisions about Down syndrome present profound and deeply personal challenges to expectant parents. But for the first time, data about real families is available and can be considered by couples when they receive the diagnosis.

Our study may be complete, but my colleagues and I want to know more. What has been your experience with people who have Down syndrome? Do these statistics resonate with you? Send your comments, pictures, and videos here.

Categories: News

Dr. Skotko Speaking at NDSC Convention

Published on Monday, 01 August 2011

worsDuring this upcoming weekend, I will be traveling to San Antonio, Texas, to participate in the always inspiring Annual Down syndrome convention, hosted by the National Down Syndrome Congress.  I hope to see you and your families there.  My schedule will be as follows, if you would like to stop by and say hello:

8:30-10:00 a.m. Sib Issues for Parents. My colleague, Sue Levine, and I will be presenting the following workshop for parents:

“What Your Other Children Without Down Syndrome Are Thinking: Sibling Issues for Parents.”  Through a series of interactive exercises, parents will explore what questions, needs, and concerns are often raised by children who have a brother or sister with Down syndrome.   Parents will come away with practical answers to commonly raised questions.  This presentation draws upon Brian Skotko and Sue Levine’s publication in American Journal of Medical Geneticsand their new book, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. This workshop is also available online for free.

10:00-11:00 a.m. Book Signing. My colleague, Sue Levine, and I will be doing a book-signing for Fasten Your Seatbelt:  A Crash Course on Down Syndrome for Brothers and Sisters. Come visit with us at the Woodbine House table in the exhibitors hall.

3:30-5:00 p.m. Healthcare Workshop for Parents. I will be presenting the following workshop on the healthcare needs for children and young adults with Down syndrome:

“Keeping Children and Adolescents with Down Syndrome Healthy: All the Medical Updates that Parents Need to Know.”  In this presentation, Dr. Brian Skotko reviews all of the questions and concerns that parents most often have about their sons and daughters with Down syndrome. He provides the answers and action steps, stemming from the latest clinical research on people with Down syndrome. Based on his clinical experience in the Down Syndrome Program at Children’s Hospital Boston, Dr. Skotko makes sure that every parent can anticipate medical conditions so that the potentials of all people with Down syndrome are maximized.

Categories: News

Mock My Pants, Not My Sister

Published on Monday, 18 July 2011

SAMSUNGOn 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. I look forward to seeing these ads in the magazine, as I continue to wear—proudly—my green pants in public.

Categories: News

Dr. Skotko and Sue Levine Discuss Temper Tantrums

Published on Thursday, 14 July 2011

screen shot 2011-04-03 at 9.22.51 amMy colleague and co-author, Sue Levine, and I try to tackle a question that is on the minds of all younger brothers and sisters who have siblings with Down syndrome:  What should I do when my brother or sister is having a temper tantrum?  We tackle this question on our YouTube Channel, while discussing ice cream at the same time!

Categories: News

Dr. Skotko attends MDSC Board Retreat

Published on Saturday, 25 June 2011

mdsc logoThis weekend, I am looking forward to attending the MDSC Board of Directors annual retreat, where we will be discussing the strategic directions of the organization.  I so very much enjoy volunteering for this organization that has grown so much over the years, while still keeping the most valued people in focus–you and your family.

Categories: News

Down Syndrome and Autism Webinar for Parents

Published on Friday, 24 June 2011

clinic brochure picChildren with Down syndrome also have an increased chance of having autism spectrum disorder.  On Monday, June 27, at 7pm EST, Dr. David Stein of Children’s Hospital Boston will be giving a free Webinar for parents.  How do you know if your son or daughter with Down syndrome also has autism?  And, if they do, what can be done about it?  I hope that you will join us for this lecture, which is part of the Allen C. Crocker Parent Lecture Series from the Down Syndrome Program at Children’s Hospital Boston.

Categories: News

Parents’ Input Needed on Education

Published on Thursday, 23 June 2011

ndss logoParents, now is your chance to have a say in the federal law regarding the education of children with Down syndrome and other disabilities. If you haven’t already completed the survey, NDSS urges you to do so. The survey and more information about it can be found at

The results will be used to write a report describing the special-education advocacy experiences that parents, self-advocates, and professionals have, and describing their views of the degree to which parents are involved in the process as equal partners.

Names will not be used in the report (if stories are used, general descriptions like “a Midwestern advocate” or “an Ohio family” will be used.) There are instructions for taking the survey anonymously. There are simple multiple choice questions and questions where one can write narratives and share more information and thoughts if one wishes.

Categories: News