Let’s get real about Down syndrome

by Brian Skotko, physician in Children’s Hospital Boston Down Syndrome Program

Brian Skotko, MD, MPP

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. (Meet one of the families that represent some of the experiences reported in three surveys.)

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 us your stories, testimonials, comments, photos, and videos. You can post them here or here.

To get the ball rolling, here are a few from our staff and friends.

Resource specialist Ben Majewski escorts a family to their next appointment at the Children’s Down syndrome clinic

Hi my name is Ben Majewski, I am 21 years old. I have three jobs.  I am a Resource Specialist at Children’s Hospital Boston . I work on the Down syndrome clinic. I bring families with children who have Down syndrome to doctor appointments.  I also do some office work like mailing letters and copying papers. Sometimes I entertain the children while parents talk with the doctors. I really like this job because I like working with children.

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Dr. Skotko and his sister Allison Hanselman talk about growing up with their sister, Kristin, who has Down syndrome.

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Laura and her brother Louis

When people ask me who in my life inspires me, my first response is always, “My brother Louis.” Not only do I love Louis with all my heart, but I also love his open-minded attitude towards life. Louis gives 100% of his effort and enthusiasm to whatever he’s doing–his positive energy inspires me to always put my best foot forward. Furthermore, Louis allows himself to live in the moment, to feel whatever he is feeling and to voice whatever he is thinking in the present, without concern for appearances or what other people will think. I find Louis’s frame of mind refreshing and make an effort to bring it into my life every day.

-Laura Sciuto,

Learn more about the Sciuto family in this great article.

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Much like many people, I never expected to be the mother of a child with Down syndrome. We found out a few short hours after her birth. Four and a half years later, I will tell you that Emily is the most amazing child and I would do it all over again without a moment’s hesitation. She has seven siblings and they ADORE their sister. She is the most loved child you will ever meet. She is also the sweetest, most loving, greatest gift we have been blessed with. I want those facing the potential diagnosis to understand one thing…It WILL change you life in ways you could only dream about. Please, reach out to us, we will gladly guide your way the best way we know how. –Ange Wright Aguirre via our Facebook page.

 

 

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7 months ago my husband and I received a surprise diagnosis of Down Syndrome within an hour of our daughter being born. We were very fortunate in that she had very few medical issues except and ASD and VSD which were minor enough to only require monitoring. We promised each other that no matter what it meant, that we would do whatever she needed to make her the best person she could be. She ha…s changed our lives in ways we never imagined and has opened us up to a whole new community of people who have been truly amazing. She has also brought our family and friends closer to us than we ever thought possible. In her short life she has touched so many lives and I have no doubt that she will continue to be an amazing people who will continue to affect all the people around her. It’s not always been easy, but I wouldn’t trade a single moment of her life for anything.

-via Facebook

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I worked with children with Downs Syndrome in college and secretly wished one day I would have a child with Downs Syndrome because they were so darn loveable! I then had a niece with Downs Syndrome and I was thrilled and everyone adored her! Long story short I had the opportunity to adopt a child with Downs Syndrome! It all fell into place and I couldn’t be happier. It is challenging, some days more than others, but I would never give it up!!! I worry about the new testing causing more people to terminate pregnancies when they haven’t learned the best kept secret about how wonderful it is to have a child with Downs Syndrome, and how great the people you meet in the community. I have talked to people who agree you feel lucky to have them in your family! They truly are special people and offer special gifts to you every day!

Nancy Thompson via our Facebook page

 

What about you? Has someone with Down syndrome touched your life? Tell others how you feel by sharing your story.

  • Betty Fiscus

    There was a TV drama about ten years ago,A women was suing her Doctor for wrongful life.They had her son testify (he had Down Syndrome) He said how sad he was because of all the things that his friends could do that he couldn’t.I said to my son Matthew you know that you have Down Syndrome and you friend Bobby doesn’t.I ask Matthew if that ever made him sad.He said it did then he started to list all of the things that he did —Activities with the Down Syndrome Org. and Special Olympics ect. that Bobby didn’t do.He wanted me to find out if Bobby could Get Down Syndrome.

  • I love your post! thanks! I am the mother of two children with Down syndrome and getting real about it, I love them with all my heart and I would never change anything abouth them. Love is perfect 🙂

  • Zullyangel

    21 years ago, i had the blessing to bring a beautiful boy to this world, his name is  Andy and he has Down Syndrome and love him with all my heart.  I would never change having him in my life. I really enjoyed reading about this new test  Dr. Kostko is introducing to the world of medicine. Thanks for this post! Now let’s get real.

  • Truth

    Brian, why didn’t you mention that “the findings are limited by the fact that the 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.”?  And that “The responses from 284 people with the condition came just from those able to respond; other (sic) are too disabled to do so.” (quotes from MSNBC articles).

    Your post above misleadingly implies that you are reporting results that are representative of EVERYONE with Down syndrome.

    Your failure to indicate that you are providing a skewed and partial view is unethical.

    • Crevicepine

      Who are you, Truth?

  • Rosaortiz Lane

    I love your post. I am glad I found your website. Through you, I can see how the relationship between my son with developmental challenges and my son with a typical development will be. I was prenatally diagnosed and you can read my story at: http://asuperbaby.blogspot.com/2009/10/my-prenatal-diagnosis-2008.html.

    Thanks for all your doing for kids with Trisomy 21 (Down syndrome).

  • I interviewed my kids (we have ten, and our youngest has Down syndrome) about their feelings regarding life with Down syndrome here:

    http://babynumber10.blogspot.com/2011/08/burden-or-blessing.html

  • Peter Elliott

    Dear Brian, I think you are greatly understating the situation with this new screening program in the USA – The experience from the UK tells a totally different scenario where 93% of parents decide to terminate the pregnancy when they get the news that the baby is detected as having Down syndrome.  They are told its the fetus – so that makes it not really a baby, no one translates to english that fetus means Young one. If we really want to change the situation and teach acceptance it needs to start in the teen age years with the general population and especially with families who want their children to become medical professionals. In the UK the government funds the screening program and they claim it is saving the Government over $1 million for every one of these terminations based on the high cost of medical care and a lifetime of disability and special needs education.  Then the certainty of dementia and Alzheimer’s in old age.  They know these costs and they are correct. Our charity tells the truth to parents including the need to support research to find medicines to prevent the the baby being conceived with trisomy 21 – there is still that same baby but it will not have the trisomy 21.  Then there is a need to find a medicine to improve the health of the baby in the womb and to help the baby after its born.  Parents are not being told the truth and this prevents the funding of good medical research.  All the stories of acceptance and joy that the child has a condition that is actually a health disability is nonsense. Its shortening these lives and putting them at risk.  The child is a member of the human family who needs our total support from conception. Special only because of their courage as they struggle with a disability and years of health problems where they dont get the spending on research to find the medicine the need to make their lives more normal.  We get that research underway and so do the researchers who see the true situation and the expectation that a medicine can be designed (not discovered) we already know the problems. We need parents to know there is this hope for the future and no more fairy stories that a disease process is a blessing the children are the blessing the disease is the challenge that we need to live up to and not ignore.  Hardly any parents are funding research while governments are now launching a deadly eugenics program to screen for the children and get rid of them before they are born. Is this the world we want to live in.  1000 T21 terminations in the UK – 700 live T21 births 70 of these the parents refused to terminate when they got that news. 630 refused to be screened.  These are FACTS and thats the future for the USA. Tell the truth and get the good research underway to help these patients and not put their lives at risk.  Peter Elliott – Research Director- http://www.DSRF-UK.org