Sunday, March 18, 2012

Shining a Light on Prenatal Screening

This is the tenth in a series about the new tests that detect Down syndrome in the first trimester of pregnancy. It is our hope to bring awareness to concerns regarding these tests, as well as bring a call to action. As always, thoughtful and respectful discussion is encouraged in the comment section.


Today I've asked fellow advocate, Lisa Peele, to guest post for me. Lisa is a mother to six beautiful children, a blogger, and a dear friend. Her two youngest children have Down syndrome. Bridget was born in 2006; you can read about her birth in in Gifts 2. Alina was welcomed into the Peele family through adoption in 2010. You can read more about Lisa's family on her blog, Living in the Light.


Shining a Light on Prenatal Screening:  Implications of the New Tests

Lisa and Alina

Lisa Peele
March 19, 2012

People with Down syndrome—and their families—are overwhelmingly happy with their lives, as recent studies published in the American Journal of Medical Genetics show.  And yet, advocates for Down syndrome (including self-advocates) have been working overtime to get the message out about what it actually means to live with the diagnosis, for good reason:  they’ve found themselves in the unusual position of having to defend and explain why people with Down syndrome deserve to live as much as anyone else. 

People with Down syndrome have their own gifts, talents, hopes and dreams, just like the rest of us.  They can and do make significant contributions to their families, their communities and to the world at large.  They have value and worth (and self-worth).  There is a chorus of voices, of parents and siblings of people with Down syndrome, and of people with Down syndrome themselves, expressing a loud and powerful message:  A life with Down syndrome is a life worth living.  

Alina and Bridget

The emergence of new prenatal tests to detect Down syndrome early in a pregnancy means that even more women will be sitting in a doctor’s office receiving a Down syndrome diagnosis wondering how to process the news and how to proceed.  The reality is that outdated images and negative stereotypes of Down syndrome do exist in a large segment of society, in the media and even within the medical community.  And though there is plenty of information readily available for parents with a prenatal diagnosis (websites, pamphlets, blogs, advocacy groups, and support groups ready to provide information and guidance), many expectant parents receiving a diagnosis of Down syndrome are still not given balanced information or appropriate counsel regarding Down syndrome or their options.  On too many occasions, women are still guided or encouraged to terminate.


While safer genetic screenings theoretically benefit both mother and child, the existence of these tests themselves (20 years and millions of dollars in the making) suggests they are beneficial because Down syndrome is a “problem”—an unintended and unwanted consequence best found while there is ample time to reconsider the pregnancy.  Often referred to as a “seek and destroy mission,” there is still upside to early diagnosis beyond facilitating termination:  it can provide parents a longer window to seek information on Down syndrome, to link up with support groups, and to process the diagnosis.  Parents are free to make either choice—to continue or end the pregnancy—though the prevailing mentality often supports the latter.


We have mapped the human genome, and have uncovered exciting possibilities for improving the health and quality of life for people with all sorts of illnesses and diagnoses.

We have also begun to use the same science and related technologies to detect and eliminate humans with specific conditions.  Prenatal testing itself has existed for some time.  But today, our federal government has passed legislation that all pregnant women be offered (at no cost to them) a new, safer genetic screening which detects Down syndrome in the first trimester of pregnancy.

With a prenatal diagnosis of Down syndrome, or any other condition, there is no way to predict a particular child’s potential or long-term prognosis, and the way a Down syndrome diagnosis is delivered is quite often literally a matter of life or death.  Despite the increase and widespread nature of the testing, there isn’t an equal increase in the amount of information available to parents about the diagnosis, and there are no universal standards for the type of information parents receive, or for the way a diagnosis is presented.


Some things to consider:
- Even “perfect” scores in prenatal testing cannot guarantee a person’s ability, health, happiness, achievement later in life.  In having children, there are no guarantees.

-Ability is a continuum.  We all fall somewhere on the spectrum, and are more or less “able” in the various areas of lives.  Disability is part of the human condition.  Fear or discomfort with disability is natural, too, but is often overcome with information and experience.

-Most parents, even those whose children do not have a specific diagnosis, say that being a parent is one of the hardest jobs out there.  Yet, most parents would also say that the time, energy and money it takes to raise their children is entirely worth it.  Parents of children with Down syndrome are no different.  It doesn’t take a saint or a hero to love someone with Down syndrome.  The loving part comes as naturally as loving anyone else.

-Economic (cost-benefit) arguments which rationalize people with Down syndrome (and other “genetic defects”) out of existence may make logical sense, but are morally bankrupt.  We are not talking about things, we’re talking about people.
-“Human” cannot be taken out of the human condition.  We are not robots, or genetically engineered creatures devoid of morality and at the same time guaranteed to achieve and to be free of health issues or “problems” ourselves.   Being “human” means that there are complexities of condition and of mind that set us apart from animals and machines.  Unlike robots, we do not fully function without compassion, empathy, values, or morals.  Our conscience—and our awareness of our own imperfections--is an essential part of what it means to be human.

If it seems like this is a heavy discussion, it should.  The current prenatal screening debate carries within it some of the deepest issues facing mankind.  What makes life valuable? What makes a person worthy of life and love?  What things in this world can we—and should we—try to control?  What is too imperfect, too expensive, too much of a burden or just too undesirable?

Yet we’re seeing a common theme in today’s thrust for universal prenatal screenings:  there are those among us who are too expensive, or too burdensome to live. Today, we're talking about people with Down syndrome—people with unique challenges who can, and do, live happy and vibrant lives.  This line of thinking could apply to any one of us at some point in our lives. Every single one of us needs extra help at times or will need extra help—possibly a significant amount of extra help—at some point in life.

The debate over the newest forms of prenatal screening has elicited arguments from all of the angles we would expect, as each individual is coming at this from his or her own set of values and considerations.  But at its core, this debate isn’t about politics or religion.  It isn’t even about being “pro-life” or “pro-choice”—terms which have embedded political and religious connotations and labels that are not mutually exclusive.  A person can hold a belief that the government shouldn’t be able to tell us what to do with our bodies and at the same time can still value all life.  No one can know another person’s whole story, or the circumstances surrounding a pregnancy.

This is about making sure expectant parents get all the support and information they need to make informed, educated, thoughtful choices.  It’s about having our eyes wide open and understanding that we’re at a critical point in the history of civilized societies.  We now have the capability to “know” all sorts of information about a person before birth.  What we do with the technology we’ve developed and how we use that information is our choice to make. 


It is imperative that we stop and think before accepting these tests at face value, before running headlong into this new era of “earlier, safer” prenatal testing.  This is a discussion that needs to be taking place everywhere—in schools, churches, coffee shops, at kitchen tables, online and face-to-face.  Each of us needs to be asking:  What do these tests mean for us and what are the implications?

At the very least, an increase in solid, balanced information on what life can be like with a diagnosis of Down syndrome (or other detected conditions) must accompany the increase in testing.

This issue is too important for any of us to sit on the sidelines.  Get involved in helping others to understand what these tests do, and what they mean.  Take the time to educate yourself on all aspects of this debate, and to discuss with family and friends.

Lily and Ruby

Here are some questions to encourage and inspire further discussion:

  • What makes life valuable?
  • In what ways are you more and less “able”?
  • Which potential hardships trump the value of a life (realizing that we’d be speculating about the impact of those potential hardships)?
  • Chromosomal abnormalities (not all of which are incompatible with life) are the current focus.  Which condition is next?  Do you or a loved one have—or are you predisposed to—diabetes, breast cancer, alcoholism, mental illness, autism, learning disabilities, or any other condition or diagnosis others may feel is “expensive” or a burden to them?  How would you feel if a prenatal test was developed to detect any of these conditions for selective termination?
  • The technology is here and will continue to advance.  Where do we draw the line?  For example, what happens when prenatal testing is applied to particular preferences (such as eye color or sex of the baby)?  If we can engineer humans for intellect, beauty, athletic prowess or career success, should we?
  • Should the doctors who recommend prenatal tests be required to provide accurate and balanced information about any condition detected through the testing?
    Which questions do you think are most important for understanding the critical issues in moving forward? Please join the conversation.


    P said...

    Nice! Thanks!!!!

    Mike Sullivan said...

    Our family went to Buddy Walk yesterday to celebrate World Down Syndrome Day, where families with members with Down syndrome get together and celebrate life. My lasting impression was - what’s the big deal with Down syndrome? - This is just fantastic, what beautiful people to be around.

    Whilst there, I heard the story of the mother who just aborted her child at 28 weeks gestation for having Down syndrome – signed off by Doctors who said such people are “incompatible with life”.

    Choice? I will take life as it is, in all its Glory.

    Anonymous said...

    Excellent post!!

    Elk Grove, CA

    Kimberly said...

    So incredibly well said...thank you for taking the time to write this, Lisa.

    TUC said...

    Before I had my daughter with Ds, I never thought about most of these issues. In retrospect, I think that when I was pregnant and found out about the Ds, I was sad that she would not have all the things we dream for our children. My head was filled with what she wouldn't, couldn't do. I think that we need to be careful not to let the shattered "norm" override the reality of a different, yet equally enjoyable and worthy life waiting to be lived.

    I hope that the extra time for decision making afforded by earlier testing will give prospective parents a chance to realize that their dreams for their child are not worth more than the child itself.

    I can say that I wish my doctor had given me a booklet like Lettercase's "Understanding a Down Syndrome Diagnosis". It provides accurate, up-to-date information in all areas that are of concern to parents, and it helps to instill a new dream.

    Meriah said...

    Fantastic post. I really like the thoughtful questions at the end and the neutral tone that makes it very easy for anyone to read.

    Did Lisa already submit it to HuffPo?

    Anonymous said...

    This was so beautifully written and touched on a lot of issues and concerns that one may have regarding the possibility of having a child with Down Syndrome. I have a six year old boy with both Down Syndrome and Autism and I wouldn't give him up for anything in the world! He's beautiful and incredibly smart and the light of my life. And other peoples' lives as well! The amount of people that come up to me and praise me for 'keeping' him and for raising him on my own (his father abandoned us because of the DS) is staggering. Everyone just falls in love with him. I had prenatal testing and everything came back fine. Low and behold, after he was born, I was told he was taken down to the NICU because they thought he had Down Syndrome. It would be another month before we'd get the testing back to confirm it. But even if I'd had known for sure before he was born, I would have had him any away. Regardless of what he may have had wrong. He was my baby and I was going to bring him into this world and have him! Simple as that.

    God bless you for taking the time to create this blog entry.

    nicole said...

    Someone once said there is a cruel irony for all the people who laid the foundation for abortion and that is . .. they are aging and may not be very "productive" and soon enough their lives will be assessed for their worth. So you're right, Lisa, this has implications for everyone.

    Great series, Patti!

    Anonymous said...

    I personally am pro-choice and anti-abortion as I feel that any government involvement in our helthcare choices is a terrible trend. I am appalled that people think they have any right to decide which people live or die, much less their own children. I really think it comes down to what is hard to deal with for the parent not what is best for the child.When my first daughter was born 15 yrs ago her AFP test came back as high risk for Down syndrome. Our doctor "counselled" us about abortion. When I told him that it wasn't an option he reminded me that she could have trisomy 18 instead and then we would HAVE to consider termination. I explained that even if she was born with two heads or only lived for hours she still had the right to be born. He was disgusted with us. He acted as if we were being ignorant, irresponsible, and cruel. I can't imagine how parents are treated when they have a positive diagnosis.When my youngest daughter was born, with no warning, with a cleft palate, I found that a cleft is considered grounds for a "theraputic termination" up to at least 35 weeks in my state. The same age that she was eventually born at. She went home two days later and is just fine now at 3. I can't imagine having ended her life through fear of the difficult or unknown.

    Patti said...

    WOW, anonymous- cleft palate? I am appalled.

    Lena said...

    Patti, today I wrote a short blog post on your post. I don't have a lot of followers, but you never know who may stumble across my blog who really needs to read your blog.

    I see people (of all ages) who look like they have Down Syndrome and other disabilities in my community all the time going about their daily business whether it's hanging out at the library, working at the grocery store, dancing at a summer time concert in the park, or going to church. So all sorts of people make up the landscape of my town. I like it that way. We people come in many varieties.

    : )

    Melissa said...

    I heard something several years ago in a movie..."We were so busy trying to figure out if we COULD it...that we never stopped to think about whether we SHOULD do it." I think that applies here too. What if all of my kids were given their current diagnoses whilst in the womb? If I was a different person none of them would have made it out? I think the biggest battle facing people with DS is just the battle to make it out alive! Forget whether we are talking about after birth health issues, or long term issues! If that woman who terminated that VIABLE, baby at 28 weeks had really considered what she was's just so inescapably sad that she will look at a child with DS one day and realize the magnitude of what she's done...I hope she has good insurance she's going to need some help. Personally I could never live with myself, for deciding that my life was more important than someone else's.

    Anonymous said...

    Loved the article. Everyone knows that each one of us has different strengths/weaknesses. How sad that there are tests that point out some, but don't point out all the good. I read somewhere that 98% of babies are aborted with a DS diagnosis. That means lots and lots of people that we run into everyday have done it. How sad for our country. All that we have lost - it is unimaginable.


    Unknown said...

    Perfectly said! I agree 100% my life is just perfect with our extra chromosome! Better then I ever expected!

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