Stillbirths and Miscarriages: Taboo Subjects?

Why is it taboo to discuss miscarriages and stillbirths publically?

I had a recent discussion with friends regarding their thoughts on if miscarriages and stillbirths should be discussed publically.

Friends who announced their pregnancy early felt they had to defend their decision for an early announcement.  People kept asking them what they would do if they had a miscarriage.  Those friends would reply they chose to announce their pregnancy early so they would have a large circle of support if they were to have a miscarriage.

Does society wants us to look the other way if something “sad” happens?   Is it because we want to protect our family and friends from potentially “bad” news?  Is it because we don’t know how to react when hearing the news that a close one had a miscarriage or a stillbirth?  Is it because it makes us feel helpless?

This discussion bought up the role of social media in our daily life.  Sometimes I see Facebook status updates that a friend is pregnant, having contractions, or just had a boy/girl.  Every once in a while I see updates that a friend just had a miscarriage.

I have noticed people do not always know how to response when someone posts about  having a miscarriage.  Some become upset that this was posted and think it should be a 100% private matter.

I have also noticed a couple of friends posting pictures of their stillborn baby.  This seems to upset some people who feel something like this should be private and not posted.  Is it because people don’t want to deal with the sadder aspect of pregnancy and birth process?  Is it because they want to be protected in a sense and only hear the “good” things?   Is it because it scares people that this could happen to them?  People complain it’s inappropriate and inconsiderate for stillbirth pictures to be posted.

On the other hand, there are people who feel this is a great thing to do in the grieving process.  Just because they had a miscarriage or a stillbirth doesn’t mean they were never pregnant.  They still want to share their child with the world.  They don’t want to hide the baby-parent bond, they don’t want to hide their love, and they don’t want anyone to forget their baby.

This again, comes back to the fact that discussions of miscarriages and stillbirths is considered taboo in our society.  Should something that is common and a natural part of human life be hidden?  Or should it become more accepted that this is part of life and it’s ok to share it with others?

Personally, I believe people should be able to do what is most appropriate for them without feeling like they have to defend themselves.  Some people prefer to be more private while others prefer to be more public.  My personal belief is that people usually know what is the best for them in situations like this but there needs to be more support and acceptance from society for people to be able to make that decision.

What can we do as, genetic counselors, to help get rid of that taboo?

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Let Me Into Your Grief

“In three words I can sum up everything I’ve learned about life: it goes on.”
– Robert Frost

Grief, a constant in genetic counseling, is a normal reaction to death, the loss of hopes and dreams, suffering, shattered self-images, disrupted relationships, and the other emotional fallout of genetic disease. As part of our counseling work, we try to help patients express and explore their grief so that they can heal as much as possible and move on with their lives.

 

In his 1914 poem Home Burial, Robert Frost poignantly observes – as many genetic counselors have – how grief can follow different emotional arcs in men and women. The poem is set in the indoor staircase and entry of a house, and is essentially  a dialogue between a married couple who have recently lost their firstborn child.  The loss of her son is so overwhelming to the wife, Amy, that it is beyond verbalization; life is not going on for her. Her (unnamed) husband, in her eyes, does not have the same profound sense of loss. Both are profoundly sad but their different grieving styles have created a palpable tension in their relationship. The title of the poem refers as much to the child’s grave as to the emotions that are buried in the home.

The text  is taken from Collected Poems of Robert Frost, Henry Holt and Company, New York, 1930. I have added (H) and (W) to  indicate when the husband and wife are speaking, respectively. To appreciate its full depth, power, and beauty, shut your door, take a quiet break, and read it in its entirety. A few times. A well-done video about Frost’s life includes an excellent dramatization of Home Burial that would integrate nicely into a class discussion about grief. Incidentally, Robert Lee Frost, the quintessential Yankee poet, was born in San Francisco and was supposedly named after the great Southern general Robert E. Lee.

As the poem opens, the husband spots his wife at the top of the stairs where she is once again gazing out of a window. The husband climbs the stairs and demands:

(H) ‘What is it you see from up there always?—For I want to know….’

She, in her place, refused him any help….

She let him look, sure that he wouldn’t see,

Blind creature; and a while he didn’t see.

 

Eventually though he realizes that she has been staring at the grave of their child:

But at last he murmured ‘Oh’ and again, ‘Oh.’

(W)‘What is it – what?’

(H) ‘Just that I see.’

 

(W)’You don’t,’ she challenged. ‘Tell me what it is.’

(H)’But I understand; it is … the child’s mound –‘

 

The mention of their child’s grave triggers a flood of emotions for Amy:

(W)‘Don’t, don’t, don’t, don’t,’ she cried.

She withdrew,……

And turned on him with such a daunting look,

He said twice over before he knew himself:

(H)‘Can’t a man speak of his own child he’s lost?’

(W)I don’t know rightly that any man can.’

As she stands ready to escape out of the house, he pleads for her help so that he can understand her better, but is rebuffed:

(H) ‘There’s something I should like to ask you dear.’

(W) ‘You don’t know how to ask it.’

(H) ‘Help me, then.’

Her fingers moved the latch for reply.

(H) ‘My words are nearly always an offence.

I don’t know how to speak of anything

So as to please you…. A man must partly give up being a man

With women-folk.’

 

Amy once again tries to leave the house:

She moved the latch a little.

(H)‘Don’t – don’t go.

Don’t carry it to someone else this time.’

 

Desperate to get through to her, he pleads:

(H) ‘Tell me about it….Let me into your grief.’

And again he cries out

(H) ‘A man can’t speak of his own child that’s dead.’

She can’t understand his ability to bury their child and get on with life, and anger and disbelief pour out:

(W)You can’t because you don’t know how to speak.

If you had any feelings, you that dug

With your own hand – how could you?- his little grave;

Making the gravel leap and leap in the air,

Leap up, like that, like that, and land so lightly

And roll back down the mound beside the hole.

I thought, Who is that man? I don’t know you…..

You could sit there with the stains on your shoes

Of the fresh earth from your own baby’s grave

 

And talk about everyday concerns.

You had stood the spade up against the wall

Outside there in the entry….’

 

At this point, the husband thinks that Amy has finally aired her emotions and is ready to reconcile herself with the death of her child:

(H)‘There, you have said it all and you feel better.

Close the door.

The heart’s gone out of it: why keep it up.’…

(W) ‘You – oh, you think the talk is all. ‘

But Frost is not about to make it easy for the couple or the reader. This grief is too profound to be resolved with the bursting of Amy’s emotional dam. As the poem ends, Amy walks out the door:

(W) ‘I must go —…’

(H) ‘I’ll follow and bring you back by force. I will! —‘

 

The poem, the story, the couple’s relationship, and the reader’s desire for a happy ending are left hanging, exhausted and unresolved, on that simple dash.

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Genetics and Teachers

Over the years, I have both volunteered and worked as a teacher’s aide in various classrooms.  I have several relatives and friends who are special education teachers.

Many children in special education programs have genetic conditions and I am always surprised at how little many teachers know about genetics.   This prevents them from understanding how they can work with their students in the best ways.  This prevents them from understanding what sort of medical issues each child might have and how to watch for red flags.  This also causes miscommunication between parents and teachers.

When I am able to explain what a genetic condition is to a teacher, I see a difference in their teaching approach.  They become more accepting and set realistic goals their students can achieve.  Those goals are usually set higher.

Teachers continue to see the child for who he/she is and do not allow the genetic condition to define their student.  Instead, they have a better understanding why certain behavior or medical issues may arise and are more prepared for those issues.  This in turn creates less stress for the student and parents.

This also leads to improved communication between parents and teachers.

Parents  enjoy being able to talk openly about concerns to someone who understands and knows their child.

Teachers also have a lot to teach us genetic professionals, I know this from personal experiences.

Should genetic professionals explore ways for making resources about genetics more accessible for teachers?  If so, how?

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Filed under Kelly Rogel

A DNA Day Surprise

There has been much sturm und drang lately about the ramifications of direct-to-consumer (DTC) genetic testing. Depending upon your point of view, either it’s the end of the world as we know it, or it’s a door opening into the future. These opinions seem to be based on, well, opinion, rather than a careful weighing of evidence – perhaps because there is no evidence.

A recent encounter with a patient who utilized DTC testing has forced me to confront my thoughts on this issue. I am purposely avoiding mentioning the name of the company – the company does not need free advertising, and the specific company does not matter to the issues at hand. I have modified the patient’s name and some personal details to be absolutely sure that anonymity is maintained.

 

Zoe, a bright and articulate 30-something Ashkenazi Jewish woman, called me on the advice of her primary care physician. She had no specific health problems or family history concerns, but likes to keep herself educated about health matters. She maintains a healthy life style and has long been interested in learning as much as possible about her disease risks. She does not have children, but would like to start a family in the near future. She came across the website of a DTC company that happened to be offering a special deal on their genetic screen to celebrate DNA Day. So, she and her sputum took the plunge.

The results were a mish-mash of not-particularly-helpful information such as a slightly higher risk for diabetes, slightly lower risk for cardiovascular disease, wet ear wax, and curly hair (which hung plumb-straight to her shoulders). But she didn’t call me to discuss her ability to smell asparagus metabolite in urine. Instead, right there,  nestled among the results of her Measure of Intelligence and her Longevity, was a deleterious BRCA mutation.

What does this mean, she asked me over the phone? I suggested she make an appointment with me or, if she preferred, she could ask the DNA testing company if they had certified genetic counselors on staff who could work with her. The company offered her a list of genetic counselors in her area, but did not themselves employ genetic counselors.  A few days later, she was in my office.

Creature of habit that I am, I began with a pedigree, but no matter how hard I shook the family tree, the only cancer that fell out was a late onset prostate cancer in a distant relative. Not surprisingly, one side of the family contained very few females. She peppered me with questions about cancer risks, screening, and prevention. She took it all in, duly taking notes and asking appropriate questions. Although the cancer risks were concerning to her, she was reassured by the availability of options to reduce her cancer risks or to improve the chances of detecting breast cancer at an early stage. She was not ready at this stage of her life to make surgical decisions. She had alerted her family to her results, and they planned to have a family meeting after she had met with me to discuss what they would do next. In short, it went pretty much like your average BRCA Positive Informing Session. She was quite satisfied with her dealings with the DTC company, and was planning on encouraging others in her social circle to consider testing as well. I sensed no significant emotional distress beyond what you would ordinarily expect.

The lab is CLIA-approved, and out-source the BRCA Ashkenazi Panel to a well-known lab. Although the patient was concerned that sputum was not as accurate as blood, I assured her that I saw no need to repeat her testing unless she wanted independent confirmation for her own peace of mind. But this would cost her about $600, and since there was no family history of cancer, it would not be covered by her insurance. The DTC lab charged her far less than that, and in her view, she received more information for less money.

For Zoe, DTC testing was a very positive experience. She received valuable information that could very well wind up saving her life. With no family history of cancer, she would not have started breast cancer screening for nearly another decade, and would likely otherwise never have pictured a risk-reducing salpingo-oophorectomy in her future. As an aside, I think it is a forceful example of the potential advantages to offering BRCA screening to all Ashkenazi women (yes, I recognize the possible downsides and intricacies too). It also partially counters the argument that we can tell patients more from pedigrees than we can from DNA tests.

Zoe was the ideal person to utilize DTC testing. She is bright, educated, and eager to improve her health and avoid disease. She had the financial means to pay for testing and counseling (neither of which were covered by her insurer). She is emotionally stable, and the information, while surprising to her, was not particularly upsetting to Zoe or (by her report) her family. While there could certainly be long-term psychosocial issues, my gut sense was that she was not at high risk for serious problems. Of course, one could easily imagine patients who might react very differently in this situation.

My criticisms of the experience are mostly minor. The written information provided by the lab about the implications of BRCA results was fairly minimal. I tried to contact the lab to ask technical questions, but the lab’s website does not offer a readily apparent Contact Us section. It took some digging around to find a general email address, and then it took the lab 2 days to reply to me. If labs and genetic counselors are going to work together, labs need to improve their communication with health professionals. The lab rep insisted that the results were not intended for medical purposes. But, come on, BRCA results can be a matter of life and death. DTC labs need to step up to the plate and clearly acknowledge that at least some of their results have very important implications for medical care beyond telling someone to exercise more, eat less, and hold your nose when you urinate after eating asparagus.

Zoe also learned that she is a carrier for a few potentially serious genetic diseases that could affect her reproductive decisions (which she found helpful). There was also the usual collection of “Self Evident Why Did They Bother Testing For This Stuff” traits like photic sneeze response, odor detection, pain sensitivity, etc. While it is easy to make fun of these, in spirit, the information is not very different than the type of information that couples seek from sperm and egg donors when going through assisted reproduction.

We need to report our experiences with patients like Zoe as case reports and with larger qualitative and quantitative studies. We have much to learn, and it can help inform policy decisions, patient experiences, and professional debates. We should not reject DTC testing outright; there are situations where it in fact it may be quite appropriate. Until we study the phenomenon, we have no right to form extreme opinions about it. Without information, it’s a an argument, not a debate.

Genetic counselors are sensitive to the psychosocial ramifications of genetic disease. But if we insist that everyone who has a genetic test first see a genetic counselor, are  we creating an aura of specialness and mystery about genetics that can be a factor in the development of psychosocial sequelae? Should we be setting aside genetic testing from other medical tests and treating it as SOMETHING VERY SPECIAL? Perhaps for some patients, genetic testing is not such a big deal, but if we insist that it is a big deal, we might be contributing to some of the very psychosocial problems we are looking to minimize.

I would like to hear from other genetic counselors who have worked with patients who have gone through DTC testing – the good, the bad, and the ugly.

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Healthcare, Bad Health and Health 2.0

Last year I gave a mini-presentation to a small group of genetic counselors titled Health 2.0: What It Is, and Why We Should Know About It. I wish I could have just shown this clip of Esther Dyson, who provides a much more concise and current overview of the subject. Take a look (via The Health Care Blog)– it is well worth the 3 minutes of your day.

Esther discusses the current health ecosystem as being comprised of three different markets: Healthcare, Bad Health and Health 2.0. While not directly related to genetic counseling, I think this is an important concept to be aware of.  And one that seems particularly relevant given the current climate of the FDA – DTC regulation debate.

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Facts, Figures and Fictions in Genetic Counseling

Genetic counselors have a love/hate relationship with numbers. We sometimes sniff with contempt at numbers , and nobly proclaim that psychosocial issues are the real business of genetic counseling. On the other hand, patients and referring physicians demand concrete answers, so we spend an inordinate amount of time  discussing statistics and risk figures. And, truth be told, hard data is less complicated to address than complex psychological issues. With numbers, as Casey Stengel used to say, “You can look it up” – but counseling requires us to use our skills to fly by the seat of our pants.

This focus on numbers has led to the particularly absurd practice of evaluating the effectiveness of genetic counseling  by measuring accuracy of patient recall.  Not surprisingly, patients often demonstrate poor recall of any but the simplest facts. Surely by now we have learned that patients are not calculating machines! Whatever information we provide passes through patients’ complicated emotional, neurobiological, and cultural filters and out the other end comes a jumbled understanding of technical information that plays out in a complex psychosocial milieu.  Yet despite their fairly consistent inability to remember much of what we tell them, patients usually make good decisions. Many researchers are at last questioning the validity of  using recall to measure effectiveness – it’s a counseling session, not a final exam, for chrissakes’ almighty.

I am relieved that researchers are developing alternative ways of evaluating genetic counseling. What intrigues me  about numbers, though, is a question that almost no researcher has asked – “Why do genetic counselors (or any health professional) choose to use a certain set of numbers when counseling patients?” It’s a given that all research studies are flawed, and therefore the numbers generated by studies are flawed, some tragically so. I would like to believe that we carefully evaluate and compare studies, and choose those with the soundest methodologies and largest sample sizes to generate risk figures for use in genetic counseling. But I am not convinced this is always the case. Let me illustrate with 3 common examples from genetic counseling practice.

1) The single most widely cited genetic counseling statistic – for at least  30 years – is the mythical 0.5% miscarriage rate of amniocentesis. This number is well enshrined in text books, journal articles, and our collective memory. It’s usually presented to patients, with some variation, as “Amnocentesis has a half-percent miscarriage rate.” This may then be followed by a statement like  “But at our center, the miscarriage rate is X” (inevitably some number lower than 0.5%), or  perhaps “More recent studies have shown a lower rate.” These “statements of fact”  are so incorrect that they border on falsehoods. First off, as I have pointed out (ad nauseum, to some) no study has ever shown a 0.5% miscarriage, period, end of story. Second, no individual center or physician knows their own miscarriage rate. The only way to determine a center’s or individual physician’s pregnancy loss rate is through a randomized controlled study within a center. This requires sample sizes – and raises ethical issues – well beyond the means of even the largest and best financed clinics. In the absence of such a study, providing a center- or physician-specific risk is biased guesswork at best, and fraudulent deception at worst. Third, while some recent studies have shown low rates of fetal loss, the very first multi-institutional US study of amniocentesis published in 1976 found no statistically significant difference in the loss rate between the amnio/no amnio groups.  The most honest and accurate thing you could say to patients is”Studies have shown that amniocentesis has a loss rate anywhere from no increased risk on up to about 1%. There is no reason to believe that this center’s loss rate is different than published data, although we lack the statistical evidence from our own center to prove that assertion”. How can you justify saying anything other than that?

2) Maternal serum screening for aneuploidy is a mainstay of patient referrals to genetic counselors. Parents are put through the emotional ringer, and make life-changing decisions based on the results of these tests. The aneuploidy risk is usually stated as a precise-sounding fraction, e.g. 1/127.  To soften the blow, we may re-state it as a “barely 1%”, or re-frame it as more than a 99% chance that the fetus does not have an aneuploidy. But no matter how you say it, the statistic itself still carries an air of truth and authority, etched in stone and handed down to us  from the Lab Gods. Yet  a single blood sample from one patient analyzed in different labs can result in very, very different aneuploidy risks from each lab. So which number is right? Which lab do we swear by and why?

3) In cancer counseling, it is common practice to assess the likelihood of carrying a BRCA or other gene mutation by using one of the many risk assessment models – BRCAPro, FHAT, PAT, BOADICEA, etc. While each model has its strengths and weaknesses, it is pretty clear that the same family, when assessed by multiple models, can wind up with very different BRCA carrier probabilities. And although the adherents, er, uh, I mean, supporters of a particular model will tout its strengths, when it comes down to it, all models perform about the same, and the models usually perform extra poorly at the upper and lower risk thresholds. Why use one number over the other? In fact, why use any number at all (other than for research purposes)?

I suspect that which numbers we use tells us more about ourselves than about any absolute or approximate reality. I think it also makes us  very uncomfortable when the pillars of truth are found to be structurally unsound; we are not comfortable “going there.” Do we use a particular set of numbers because that’s what our bosses told us to do? Because that’s what we learned in school? Because we just read an article by some respected and clever researcher, so we assume the numbers he or she uses must be pretty good? Are there deeper and subtler reasons? For example, I have argued that 0ur imperfect collective memory of the risks of amniocentesis has allowed us to construct a more palatable reason for offering amniocentesis at age 35,  a justification based on a semi-fictional medical risk/benefit assessment rather than based on the more realistic reason of economic gains of preventing births of babies with Down syndrome.

Why do you think you use the numbers you do? Share your thoughts on this, and let’s get a lively debate going.

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DTC Companies Under Fire

I was originally going to type a post about genetics within the special education field.  Then I ran across this article, Couple sues over failed Down Syndrome diagnosis and was going to write about wrongful birth lawsuits.

However, there has been so much in the news today about DTC gene tests which I couldn’t ignore.  DTC companies have the potential to make a positive impact on the public by improving accessibility to genetic services.  Unfortunately, those services are currently being questioned.

Today, the Subcommittee on Oversight and Investigations held a hearing, “Direct-To-Consumer Genetic Testing and the Consequences to the Public Health).”  For more opening statements and testimonies go here.

What caught my attention was the federal ‘sting’ where undercover investigators either ordered kits or called companies with questions.  Check out the brief video below with snippets of recorded phone conversations between DTC companies and undercover investigators.

The FDA also sent out letters to 14 companies regarding genetic tests they provide.  Click here for a list of those companies and letters.

The U.S. GAO (Government Accountability Office) has released a summary and full report “Direct-To-Consumer Genetic Tests:  Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices.” Go here to read this report.

Thoughts?

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