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.

______________________________________________________________

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

______________________________________________________________

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.

______________________________________________________________

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.

 

 

______________________________________________________________

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

______________________________________________________________

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.