Understanding What’s Difficult about ‘Understanding a Down Syndrome Diagnosis’

Recently, members of the NSGC received a booklet called Understanding a Down Syndrome Diagnosis, full of lovely pictures of children with Down syndrome and their families, accompanied by a factual but largely positive text (…“According to some studies, siblings of children with Down syndrome tend to be more compassionate and well-adjusted than their peers.”).  Though clearly intended to be both inoffensive and non-polemical, the guide provoked a debate on the NSGC list serve that was vintage genetic counselor, by which I mean that it was sincere, well-intentioned, polite and juiced by the belief that in doing the right thing in the right way, counselors could protect their patients from unnecessary emotional distress.

 The basic argument was this: was this booklet a useful tool for couples who had not yet decided what to do after a prenatal diagnosis of Down syndrome, or did it paint such a rosy picture that it might make those who went on to choose termination feel judged?  Assuming we are all striving to be neutral, what is neutral?  Does it mean actively reaching out to present alternatives in a positive light and to counterbalance negative stereotypes, or is it more a matter of trying to intuit where the family is emotionally, and supporting that decision?  Is non-directiveness literally NON-directiveness, or is it perhaps closer to ALL-directiveness; is there a responsibility to establish that all possible options are legitimate and acceptable?

 Of course, as has been mentioned before, our baseline for “neutral” must take into account that we start this discussion in a hole: the fact that termination is on the table in the first place is, like it or not, something of a statement of where we stand on Down syndrome.  I think this is a reality that a lot of people in the field don’t see or don’t acknowledge, and which is self-evident to patients.  We are so wounded, as a group, by any suggestion that genetic counselors (of all people!) could harbor ill intentions toward individuals with Down syndrome.  We are improbably surprised when people make this connection.  I know a lot of you work with these families and adore these children and all that, but, you know, face facts, WE DO.  I mean, we (individually) DON’T, but we (collectively) DO.  Geneticists run studies to improve on the prenatal detection of Down syndrome.  Why do we do that?  To improve prenatal care?  Please.

 A friend of mine whose first four children were boys was talking to me once about the post-amnio results conversation she had with her genetic counselor for pregnancy number five.  She was offered the chance to find out the baby’s gender (she declined).  Everybody, including her neighbors, and her family, and the guy who worked at the ice cream truck, and certainly her genetic counselor, all knew that this woman was hoping and praying for a girl.  But had her counselor told her that the fetus was a boy, she would not have followed up that unwelcome piece of information with anxious questions about whether or not my friend would like to come in and discuss her options.  We test for Down syndrome in order to give the option of termination.  That is an essential truth.  Everything else is window-dressing.

 In fact, the discussion over this booklet raises a very fundamental question about whether or not our ideal of giving out information in a fashion that is both supportive and neutral is attainable.  Let’s be brutally realistic.  Parents of children with Down syndrome know that being given the choice to terminate is a commentary on how other people view their children with Down syndrome.   They know this because it is true.  And any image or anecdote or statistic showing how individuals with Down syndrome are beloved by their family members is bound to feel like a reproach to couples who decide to terminate.  You can certainly say these things with more sensitivity or less sensitivity, but they mean what they mean.  No amount of searching for the best language is going to change that.

 Well, for my own peace of mind I probably prefer to say some nice things about the joys of raising a child with Down syndrome, and give out this pretty booklet – after all, I am really – just like the rest of you – not against children of any sort, however abled.  But at the risk of ruffling even more genetic counselor feathers, I would like to wonder out loud whether this is mainly a benefit for me, as opposed to the family in question.  I think it comes down to this: how likely is it that a family’s decision will depend on their perception of what the genetic counselor thinks is a good idea?  Do we really have that much influence?  I kind of doubt it.  We may be able to affect how the couple feels about that decision to some small degree — to make them feel better (or worse).  We can certainly influence whether or not they look back on their experience with genetic counseling and think kindly of us.  But a couple has to be truly on the fence if the intervention of a third party who is a transient if well-informed presence in their lives is the actual deciding factor in how they feel about raising a child with disabilities. 

 So if we are only impacting how they feel about the decision and not the decision itself, is it necessary or even advisable to introduce information we think is important, and should we stick to giving them only whatever information they specifically request?  And if we want to demonstrate our bona fides about supporting families who choose to raise children with Down syndrome, perhaps we should think about creative and public ways to do just that, and not rely on the old idea that our personal neutrality in the confines of the counseling session is going to achieve the dual goal of enabling a family’s right to choose, and demonstrating our  respect and humanity for persons with genetic disabilities.

7 Comments

Filed under Laura Hercher

7 responses to “Understanding What’s Difficult about ‘Understanding a Down Syndrome Diagnosis’

  1. Sally E Cohen, MD

    This is a cogent, insightful, and necessary comment on the issue.

  2. M

    “Geneticists run studies to improve on the prenatal detection of Down syndrome. Why do we do that? To improve prenatal care? Please.”

    Thank you for making this point, this entire post is very honest, insightful, and full of the hard truth! I couldn’t have said it better. We have to realize , too, that even our neutrality on a subject makes a statement to our clients, whether intended or not.

  3. H

    Thank you for this post. I do disagree on one point. While prenatal diagnosis of Down syndrome can, and often is, used to give the option of termination of pregnancy, it can also be used to prepare parents in advance for a child who will have additional needs. We have many families who are faced with an increased risk for Down syndrome who delay prenatal diagnosis until ~34 weeks so they can know the results before the time of delivery. They choose this time because they are more comfortable with an increased risk for pre-term delivery as opposed to loss of pregnancy and value being able to know in advance. The benefit of knowing in advance can not be overlooked for these families. I don’t mean to suggest that a majority of our families make this decision, but it can be an important and meaningful choice. When discussing prenatal diagnosis for Down syndrome I try to couch it in terms of not only termination, but also the ability to know in advance. As we all know, we can not predict an individual outcome. But, it does allow families to start grieving the loss of the previously imagined child, and start to accept and love their child prior to delivery.

    The fact that termination of pregnancy is on the table is a statement on where we stand. But, it is really a reflection of where our society stands. The anecdotal evidence that uptake of prenatal diagnosis at all varies by region, is an allusion to this idea. If nobody would consider termination of pregnancy in the event of a diagnosis of Down syndrome, this would be a moot point. Those who are looking for change in this matter would be more effective in changing societal perceptions not trying to change the way we as genetic counselors practice. I take this new brouchure as a means of trying to change societal perceptions. It is up to us a individual practioners to decide how we use this material.

    • J

      This exactly! I worked in a part of the US in a prenatal setting where most prenatal diagnoses were for preparation purposes, and termination was only rarely considered by patients (though I did explore the option with patients).

  4. A. Geneticcounselor

    >Those who are looking for change in this matter would be more effective in changing societal perceptions not trying to change the way we as genetic counselors practice.

    By suggesting that GC’s work towards changing societal perceptions, the implication is that this is a straightforward proposition.

    Moreover, the suggestion is a cop-out that genetic counselors have used and continue to use. We hide behind ‘societal biases’ instead of looking towards our practice and really considering the ways that we contribute to and reinforce those biases through subtle and not-so-subtle messages. We *do* need to change the way we practice.

  5. Here is another hard truth. Parents who choose abortion know they are subjecting their unborn baby to skull-crushing, dismembering, needles in the heart, or other methods of feticide. It is natural to feel guilty and bad about this. Post-traumatic stress disorder is normal if you do this. Should you genetic counselors give in to their need to demonize their baby so terminating parents can feel good about themselves?
    Maybe if they feel so bad about what they are doing they shouldn’t do it. And maybe it so awful it shouldn’t be legal.

  6. Agreeing with Dr. Davenport’s comments, I would like to add one additional thought to your commendable commentary. I do believe that what GC’s say and do has much more impact than what your laudable modesty admits.

    As the father of a child with autism, ADHD, mixed expressive/receptive language disorder and static encephalopathy, these diagnoses at age four were devastating to my wife and me. They were shattering, and came on the heels of three years of misdiagnoses.

    However, they came at age four to a child whom we had beheld, nurtured and loved for four years. He had an identity and a history with us. For religious reasons, we skipped all prenatal testing, being open to whatever child came our way, however abled. This is not the case for a great many parents.

    Even though my wife is an accomplished pediatric nurse who had spent ten years at Cornell Medical Center, and I had a first career in counseling and then as a research molecular biologist, we were gripped by ice-cold fear, doubting our ability to positively effect a beneficial change in our son’s life.

    It’s orders of magnitude worse for parents without a firm set of principles, without knowledge of therapeutics, and who have no interpersonal experience as yet with their child in the womb. Such a diagnosis of Down syndrome is frightening and shattering. In the emotionally raw state of the parents, they are easily suggestible, and nuanced suggestiveness can take on the subjective interpretation of an imperative.

    You have much more influence in these pivotal moments in life, when all sense of control is wrested from so many parents by the nature of the prenatal diagnosis and the sense of the demands that diagnosis will place on the parents for the rest of their lives, altering the trajectory of the parent’s lives in every way.

    Against this backdrop, it is vital that parents be given every sense of hope for their futures with the child. They should be directed toward support groups for Ds and urged to speak with other parents who understand the state of shock the pregnant mother and her husband/partner are in, and who can communicate a message of hope before the irrevocable decision to abort.

    Our son is now 12, mainstreamed educationally, and just a bit shy. He’s an accomplished baseball player, state and regional bowling champion, Boy Scout, and talented tap dancer. All of these activities are with mainstreamed children. The greatest, and cruelest irony is that we are aborting Ds and other babies at near-perfect eugenic rates (93% for Ds) at precisely the moment in history when therapies exist to mainstream them into society as functional adults, at a moment when Ds life-expectancy has rocketed to age 60 today from age 25 in 1983.

    GC has played a devastating role in these eugenic numbers.

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