My thoughts on prenatal blood testing for Down syndrome

I’m sure many of you know, that Dr. Brian Skotko and the team at the Down syndrome clinic at Boston Children’s hospital recent came out with a survey, “Let’s Get Real about Down syndrome” that discusses how families and individuals with Down syndrome truly feel about their lives.

The results are in – Down syndrome is not a death sentence and brings true happiness to those touched by Ds!  Yes, we can all admit that this is a bit of a PR spin but it is the job of those who KNOW about Down syndrome to educate those who do NOT know about it.  The fact of the matter is, that those who have no experience with Down syndrome have misperceptions up the ying yang (aka like what I thought about Down syndrome before Julian was born).

Below is an article in the health care section of MSNBC.com which features Melissa Reilly, a 25 year old, well-spoken, educated and accomplished woman who just so happens to have Down syndrome (and whom I have had the pleasure to meet!).   The article references Dr. Skotko’s survey and touches upon some ethical issues. Will our society’s goal to achieve “perfect” children lead to a mass eugenics effort to prevent the lives of those with Down syndrome?  I don’t know….

So many thoughts running around in my head. So before you read the article below, I wanted to share with you my thoughts about these issues. With the new non invasive blood test which will be able to identify Down syndrome early on in pregnancy WITHOUT an amnio or other invasive test that comes with a risk of miscarriage, I do think more people may choose to terminate, adding to an already very high prenatal termination rate. Although I do not know that for sure. In my opinion, these types of decisions are based on fear.  Fear of the unknown and lack of knowledge of what living with Down syndrome or raising a child with Down syndrome is REALLY like.  Heck, I am pretty sure I would have been one of those people who might have terminated based on lack of knowledge and tremendous FEAR due to the way our society and our medical establishment inaccurately presents a life with Down syndrome (surprisingly the medical community is largely uneducated about true life with Down syndrome).

It is clear that our society really has no idea about the reality of Down syndrome and is still living with visions of the past, when people with Down syndrome were institutionalized. Those were the visions I had in my head when Julian was first diagnosed with Down syndrome at birth (actually I self diagnosed him the second I saw him after I gave birth…you can read more about Julian’s birth story here).

Thankfully, there are many efforts happening nationally today including many many efforts by Dr. Skotko and his team to present ACCURATE materials to doctors and soon to be doctors telling them about life with Down syndrome today.

However, with this new blood test and the current way that doctors look at the “business of medicine”, unfortunately doctors are being pressured to just approach Down syndrome as a “medical problem” to get rid of….and be prevented.  They are going so far as to use the term “preventative medicine” along with the blood test.   Aborting your baby should not be labeled preventative medicine, in my personal opinion. Again, in my personal opinion, this is actually preventing a LIFE from happening.

I am honestly worried that the medical community is going to brainwash the rest of our society into thinking that the only option for life with Down syndrome is to not live it.  That goes to the heart of my soul. You are telling me that my son’s life is not worth living, and it hurts.

I do not know what the future will bring, but I do know that I look forward to following all of the amazing efforts that are happening by Dr. Skotko and his team and many other wonderful organizations dedicated to Down syndrome awareness and education.  I hope I get to see some of society’s opinions of people with Down syndrome change a bit.

But my utmost fear is that the medical establishment will make the blood test and killing all unborn chidlren with Down syndrome a “recommendation” as opposed to helping educate families who learn that their unborn child has Down syndrome, presenting the FACTs and letting parents to be make their own personal, informed decisions with BOTH sides of the coin, both the medical and developmental challenges that individuals with Down syndrome have as well as the happiness and the LIVES that they live.

I hope that doctors role will be to help families understand the life of their child may be different than they expected, that Down syndrome is a bit different than what you might have expected for your child – but it is not as scary as it may seem – and if you have a child with Down syndrome, your life might just turn out a little better than expected. That’s what has happened to me at least.  And I am thankful every day for the life of Julian Thomas Sherman, my son, my baby boy.  The world is his oyster.

If the medical establishment will not step up, then it is those whose lives are touched by Down syndrome’s mission to fill in the missing education/awareness piece.  Are you in?

PLEASE make an effort to blog/post/talk about this.  And comment here with your thoughts! I would LOVE to hear them….this is a controversial issue….let’s talk!

- Gretchen

Health care on MSNBC.com

Down syndrome’s rewards touted as new test looms

Families report happy lives in first survey of impact of genetic condition
Image: David and Annelies Reilly, and their daughter Melissa

Courtesy the Reilly family

Melissa Reilly, 25, seen with her parents, David and Annelies, has Down syndrome. She’s also a Special Olympian and a college student.
By Kimbery Hayes Taylor

msnbc.com contributor

David and Annelies Reilly had dozens of questions swirling in their minds when doctors diagnosed their newborn daughter, Melissa, with Down syndrome.

Could she learn? Would she go to school? Could she ride the bus alone? Could she live a normal life? Could they?

Melissa, now 25, is successful by any measure. The college student is a speaker invited to inspire others around the country. 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.

“She has taught us compassion for those who are not as strong or so-called perfect and beautiful,” says Annelies Reilly of Boxborough, Mass. “We see her as perfect and beautiful.”

Inspiring portrait of Down syndrome at odds with perfect baby pursuit

The Reillys represent some of the experiences reported in three surveys conducted by doctors at Children’s Hospital in Boston that suggest the reality of Down syndrome is positive for a vast majority of parents, siblings and people with Down syndrome themselves.

Among 2,044 parents or guardians surveyed, 79 percent reported their outlook on life was more positive because of their child with Down syndrome

This is particularly relevant as a new blood test to determine Down syndrome early inpregnancy is expected to be available within months.

Dr. Brian Skotko, a clinical fellow in genetics at Children’s Hospital Boston and lead study author, says he hopes 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 many American women who are pregnant are getting prenatal diagnoses of Down syndrome, and then they ask all those pertinent, relevant questions: What does this mean for my family? What does this diagnosis mean for my marriage? What impact will it have on my other sons and daughters?” Skotko says.

Skotko also 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 better people because of their sibling with Down syndrome. A third study evaluating how adults with Down syndrome felt about themselves reports 99 percent responded they were happy with their lives, 97 percent liked who they are, and 96 percent liked how they looked.

“I love my life 100 percent,” says Melissa, explaining that her brothers’ and sister’s friends are her friends, too, and she accompanies them on outings and vacation. “I love my life for the things I do, and the places I go. We are one happy, loving family.”

Each year, about 6,000 or one of 691 babies is born with Down syndrome in the United States, reports the Centers for Disease Control and Prevention. The chromosomal disorder carries a range of intellectual impairment and other health problems, including heart and stomach defects, a weak immune system, poor hearing — and a shorter lifespan. Some with Down syndrome, like Melissa Reilly, are high-functioning, loving and quite healthy. Others, though, are so severely disabled they cannot communicate. Even on the healthier end of the spectrum, people with Down syndrome tend to die younger, in their 50s.

Currently, some pregnant women get blood tests and an ultrasound to find out if the fetus is considered at risk. But a definitive diagnosis requires sampling amniotic fluid or the placenta – and invasive procedure that carries a small — but unnerving —  risk for miscarriage.

Thousands of women a year opt to terminate pregnancies when their unborn child has Down syndrome. Some estimates put that number as high as 90 percent, according to Boston’s Children’s Hospital.

But soon, the first non-invasive and inexpensive blood test will allow pregnant women to know if their fetus has Down syndrome in the early weeks of pregnancy. The test, expected to hit market later this fall, detects fetal DNA in a mother’s bloodstream.

Bioethicist Art Caplan says the ease of this test raises the possibility that Down syndrome will slowly disappear from our society .

Skotko, the genetics researcher, also has a 31-year-old sister with Down syndrome. He says she is the inspiration for his practice and research on the condition and that it’s critical for families to receive accurate and unbiased information, and they should know raising a child with Down syndrome can be a fulfilling and rewarding experience.

“Now, we have heard from 3,150 family members around the country on what this is like. This information will be very helpful as women make many personal and profound decisions about their pregnancies.”

Caplan, a professor of bioethics at the University of Pennsylvania and msnbc.com columnist, notes 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.

Still, he says the study provides powerful data, and an important perspective that has been hard to hear, but may not change people’s minds.

“Even though society has learned more about what Down syndrome can do, it still turns out that some prospective parents won’t be willing to accept that story,” he says. “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.”

Whether they believe it or not, Skotko says, “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.”

Kimberly Hayes Taylor is a health writer based in Detroit. A former staff writer for newspapers including The Detroit News, Minneapolis Star Tribune and The Hartford Courant, she’s also written for magazines such as Essence, Black Enterprise and Decisive. Her latest book is “Get It Up: The Ultimate Guide to Overcoming Erectile Dysfunction.”

Related Posts Plugin for WordPress, Blogger...
This entry was posted in Uncategorized. Bookmark the permalink.

9 Responses to My thoughts on prenatal blood testing for Down syndrome

  1. Tracey says:

    Thanks for posting this. We are a “LIFE” family and even after our recent risk factors were a bit higher for DS, we have chosen Life. It’s so nice to see people like you being a voice to the numbers. It’s one thing to hear a statistic of x% of people affected are happy but it’s a total other thing to see the ins and outs of a family who is in love with their lives and their little boy. Thank you for your vulnerability on your blog and your amazing family.

  2. Jeri says:

    I have read this story and some of the comments to it. I was told at my 20 week ultrasound that it was a possibilty and again at a level 2 ultrasound at 24 weeks. I was encouraged to do an amnio and told more time then I cared to hear that I still could abort my little girl. I refused all blood tests and amnios.
    My little girl came into this world and she was a perfectly beautiful girl with Downs. The thing that struck me weird is how the Dr’s & nurses are so afraid to say anything. I really think there needs to be more info available to parents about what having a child with Downs is really like, not what it use to be like. My daughter is just like my 2 older boys. Sure life is a bit different but I would not change one thing about it.
    My only fear is that with this new earlier test is that more people are going to abort based on the results. I personally could never do that, and perhaps those that can do it based on the fact they won’t have a “perfect” child or they think they can’t handle a special needs child are making the right choice. The thought of ending Downs all together by not having these beautiful & amazing children be born scares and saddens me greatly. Who are they to choose who lives and who doesn’t.
    My daughter has taught me and all those around us so much & I am a better, stronger person because of her. Reading your blog and others out there are having me thinking of possibly starting my own.

  3. Brit says:

    First of all, thank you for putting this out there. I agree with you completely.

    We did not do any prenatal testing with our daughter (our fourth; nor did we do any testing with ds#3). It would not have mattered if we did. She was ours and no test result would have changed that. What I found interesting, and intensely saddening, was how many people asked my husband if we did any testing before she was born. The implication with them all (many of them self-professed Christians) was that if we done testing then maybe she wouldn’t have been born. I have realized that we have a very long way to go in educating people. I’m hoping, at least at this part of our journey, that I can help by showing the world that our daughter is as much a valued member of our family as our three boys, that we have the same high expectations for her as we do for them, and that with love, attention, and nurturing, she too will be able to be as successful as she is able to be.

  4. Katrina Steinmetz says:

    It would be neat if there was a way for parents who receive that diagnosis during pregnancy could meet a family like yours, Gretchen, before they decide how to proceed.

    • Jenna says:

      This is a great idea. Besides, even babies born without such a challenge have other challenges. Our culture dictates that we have to have the perfect child, yet no such thing exists anywhere. Or maybe it does because every child is perfect in their own way.

  5. Lisa says:

    Thanks for sharing this! I can only say that it amazes me how much pressure we are under to do all sorts of testing in the first place. I declined all Down Syndrome screening for this (baby #4) and had to answer over and over again are you sure? and why? (Because at my age, even given a positive screening result, the chance that my baby would have Down Syndrome is STILL less than the chance that an amnio would cause a miscarriage. And the screening only picks up on 80% of cases. It carries all the risk of causing worry that I can’t do anything with, and little benefit of reassurance that all is well). These numbers vary a great deal depending on age, this is just the statistics for my age. In my mind, the test is stupid even before considering whether I would do anything differently in light of the result. I don’t know anything about this blood test that may soon become available, and its degree of accuracy, but I can predict the answer to your question – we’re already being pressured to submit to a test that is not accurate enough to make logical sense, purely because it has become ‘standard procedure’. If a more accurate and less invasive test becomes available, of course it will be used more. I would have had no reason to decline a routine blood test that, by itself, is diagnostically accurate, if it was part of the standard procedure. I decline a LOT of routine procedures – I’ll pick and choose and only decline when there is a reason to do so, even though the results of a test like this wouldn’t cause me to act any differently. A better test HAS to be an improvement over the current situation, which causes expectant mothers a lot of needless worry, leads many to submit to a risky and invasive test, and STILL leaves many moms dealing with the shock of delivering a baby with health issues that they were not expecting.

  6. Cory says:

    This is a great post, and you are a wonderful advocate for our kids.

  7. Laura says:

    I’m going to write about this topic on my blog soon. Thanks for the inspiration!

  8. Emily says:

    I used to be able to follow you and the cute photo’s on facebook, but no longer seem to receive them :( I love reading your blog….I am a proud grandma of a little angel! When my daughter told me about this test I had one question for her “what would you do if it came back positive?” When her reply was “nothing” we decided against the test. We couldn’t be more proud of the little man – he truly is a ray of sunshing in our lives.

Leave a Reply

Your email address will not be published. Required fields are marked *

You may use these HTML tags and attributes: <a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <strike> <strong>