Thursday, March 29, 2012

Days of Awe (New Down Syndrome Diagnosis)

If someone would have told me that the days and weeks following Bridget's unexpected Down syndrome diagnosis would be bountiful...I would have thought they were crazy. 

Earlier this year, I caught a link on facebook to this blog (a friend just reminded me of it yesterday), which got me thinking about how we were in that same position five-and-a-half years ago.

I so wish we could have had even a tiny glimpse into our lives today. There was no reason to fear the future. But we didn't know that yet.

The news that our brand new baby needed surgery--and had a genetic condition that would impact her life in untold ways--was tough news to bear.

We wanted to celebrate, but we felt sad. We didn't want life to be hard for her, or for us. She was a brand new person. She was just beginning, and yet somehow it seemed that she was already behind the eight ball.  

I wish I had a picture of Bridget lying under the warming lamp recovering from her surgery. It would be even better if that picture included all three of us--Chris and I on either side of her little bed, facing Bridget and one another at the same time.  

We didn't need words to explain what was happening. The tears that fell in those moments were quiet tears of relief, of gratitude, of hope. We’d both had an epiphany and the fear began to dissolve.

We could do this. We could raise a child with Down syndrome.

For anyone just beginning this journey, please feel free to ask questions here or to visit one of the many wonderful resources for parents with a new diagnosis. Here are a few great places to start:

>Down Syndrome Pregnancy
>Real Life Down syndrome (Resources page) (List of Blogging Families)
>Down Syndrome New Mama
>What Parents Wish They'd Known

Monday, March 19, 2012

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

This is a piece I wrote for a series of posts on the new prenatal test to detect Down syndrome early in pregnancy.  Please take some time to check out the entire series over at A Perfect Lily.  And please join the conversation.  It's too important for any of us to sit this one out...

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.

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 (full document here) 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.

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.