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In continuing the theme of dignity, disability, and respect from my last post I found this incredible video which makes my point ever so eloquently, so prop your feet up, sit back, and prepare to free your mind for the predicament that is the Euthenasia Blues. Enjoy
Last December 24th, in the New York Times, Dr. Peter Singer eulogized one Harriet McBryde Johnson. This was a tribute to their 2003 head to head meeting, in which they sat on opposite sides and engaged in the single most fascinating debate on human rights that I have ever read. Read the rest of this entry »
A couple of the research blogs I follow lately have had some insight that really struck me as they fought off dualism in regards to the thorny issue of psychological vs. physical addiction and the brain, arguing that the elimination of mind and body distinctions is a good thing, as addictive pathways are real, physical represented by neuronal circuits.
This is an interesting argument, that collapsing psychology to the brain mechanisms brain can erase stigma by medicalizing it and making it a matter of physical function. In addiction it makes quite a bit of sense. We know what part of the brain is being stimulated, that dopamine reward pathways are building and feeding the habit. The derogatory statement, “It’s all in your head,” remains technically true, but loses its bite when you can explain it in such a real and tangible way. Read the rest of this entry »
And now, the moment you have been waiting for all week. No– not that moment. It is the moment when yours truly presents the best, the brightest, the most informative, interesting, and entertaining of my sojourn on the internet. Today I have gratitude, no worries, losing recognition of our own face, the God of the future, marrying biblical sisters, Scrubs and the end of life, and a football team without a home field, and eloping six year olds, amongst a lot of other really, really good stuff. So dig in and enjoy the best of the internet (I could find)- Read the rest of this entry »
First Published April 25, 2008.
Becoming the parent of a child with a genetic disease is a harrowing experience. This is likely more true today than it has ever been. We are hardwired to want the best for our children. Discovering they have a life altering condition pulls the rug right out from under parents. Discovering that the very genetic blueprint they passed on to the child is the problem makes this “act of God” personal. Suddenly, it is your fault.
Child birth is an exciting time full of anticipation. What parents often don’t anticipate is the possibility that anything could ever go seriously wrong. I took a first year medical school genetics elective right at the time my wife was expecting our first child. Note to all medical students. DO NOT EVER do this. It is a bad idea. It brought me right down to Earth real quick. It also caused me lost sleep, racing thoughts, and all around needless worry.
I also witnessed firsthand some real parental anguish. My heart ached for them. They became very caught up in questions like what the diagnosis actually was, what the chances of having another child with the same problem were, and do they need to have family members tested. The more understanding we have, the more directed the questions and more uncertain the future.
This has created or at least accentuated a new phenomenon, gene guilt. In college I had a cell biology professor who referred to himself as a “genetic cess pool.” on account of a daughter with spinal muscular atrophy, type I, a fatal recessive genetic disorder. The irony is that his genes were likely no worse than anyone else’s. It just happened that he married someone with a matching bad gene. We likely all walk around with at least a few faulty genes, usually more, among our thousands. Any one of these could result in disease if we concieve children with someone with the same exact hit. The odds of that are low, like winning the lottery, only the prize is heartbreaking.
Some genes are bad enough that disease shows up with just one copy, but for unknown reasons is super mild in some people, who may go undiagnosed until half their children get it. Other gene mutations, called nucleotide repeats actually worsen through generations until the unlucky one gets disease, and then their children get worse disease. With X chromosome disorders, the Mother passes a gene to her sons that caused her no problem because she had both a good and a bad copy. Problem is her son gets the bad gene, and has no second copy because he is male. Other diseases of the mitochondria are given strictly from the mother. All of these situations can worsen the guilt and crush the self esteem of the parent.
Science compounds the problem with evolution. We learn that nature’s way is survival of the fittest. Bad genes are selected out of populations naturally. With medicine, we have sort of beat evolution over the head by outsmarting nature, at least temporarily. People with chronic conditions are living longer and better than ever before. It is a natural step therefore, once we know about a bad gene and see its effect, to wonder if we should not select it out of the population by not having any more children. This is unnatural selection, if you will. We reason that we must do something nature has been doing anyway without our input. Some reason that if they have children they are threatening the gene pool of the race. I think it is a very flawed mindset.
Certainly many disagree with me. During the above mentioned genetic rotation, I met a teenager who was diagnosed with Li-Fraumeni syndrome, a disorder that increases susceptibility to cancer. Her parents died at a young age, and she was being raised by an aunt. The conversation between them was profound. This patient felt emphatically that her life was not a mistake. To suggest this was perhaps even offensive to her. Who would want to think their life was a mistake? For this reason, she insisted that she intended to have kids if the opportunity arose. The Aunt was mortified.
Granted, this patient had not yet experience the ravages of cancer, perhaps her point of view was flawed, but I think she had a point. This is a tough issue and certainly there are no easy answers. But I believe we often overestimate the suffering of others. I can’t help but admire her for realizing she is more than her genes. Her life was more than her disease. Individuals have much more contribution to make to society than just their genome.
I think this is a point too many people miss, especially us doctors. We are consumed with patient’s conditions. The disease too easily become the only reason we relate to them at all. We start to refer to patient’s who happen to have Cystic Fibrosis as CF’ers, Sickle cell disease as sicklers, with Asthma as wheezers, etc. al etc. It obscures the fact that we a dealing with living, thinking, feeling human beings. We physicians wan’t to prevent disease, not enable it. We grow weary of those who do not take care of themselves and present us with disease. Too many doctors fall into the snare of exasperation and contempt for the reproductive habits of those we care for.
We are too obsessed with perfection in this country. We airbrush pictures of models, causing young women to starve themselves to meet a nonexistent ideal. We celebrate beauty, strength, speed, endurance. We reject difference. It is a natural social response with ugly consequences. Just as the sick, albino or deformed chick will be relentlessly assaulted by the rest of the brood, we can have a visceral revulsion witnessing malformation, scarring, or amputation. For me, this is the human flaw we really need to work on, not the diseases. As we gain the power to manipulate our genome, how will we decide what is appropriate to treat and what is not. Short height is now an indication for human growth hormone therapy. I find that disturbing.
We need to learn to see the beauty in our flaws. Only then will we really see the beauty in humanity. I believe our imperfections are a centrally important part of our being here in the first place. Forty years ago, a French philosopher named Jean Vanier founded a religious community devoted entirely to living and worshipping among developmentally impaired adults. Speaking of Faith featured L’arche in a podcast with some profound, moving, and amazing descriptions of what we can learn from them. I encourage everyone to take a listen.
The dystopian movie Gattaca takes a look at just where a culture of perfection can lead. It isn’t pretty. In the 1930s a madman rose to power with a dream of a blonde haired, blue eyed master race setting off the most massive conflict in world history. Will we as a people fall prey to the same ideas as we develop the power to actually make it happen?
First Published March 25th 2008
MS NBC has a beautiful little story about a relatively new phenomenon, perinatal hospice and the experience of having a child with a fatal prenatal diagnosis given before birth. (hat tip to PalliMed).
Scientists have now unlocked the entire human genome, madly dashing to figure out what the function of each piece is. As a result our ability to test for genetic disease has exploded for an entire host of conditions. Unfortunately, diagnosing is a lot different than treating or curing. Knowing what is coming most often does not include being able to treat it or improving outcomes.
In many ways this is a throwback to the medicine of past centuries. Back then, doctors didn’t have a lot of effective treatments, so they made house calls, they learned to comfort patients, and be of whatever assistance they could. Childbirth was vastly different then as well. Infant mortality was much higher. Names weren’t picked out until you knew the child was okay. Attachment and hope were much more cautious.
My chosen specialty is often like this, though less often than you might think. There is an old joke about neurologists being admirers of disease rather than treaters. This is becoming less true everyday, but like most stereotypes, maybe had a small kernel of truth at its base, now distorted and stretched by the generalization. The sad truth is, any pediatric subspecialty is going to have more than its fair share of heartache and incurable conditions. And so, my heart went out to this family. I can relate. We doctors have to learn to deal with grief too. We love to bottle it up and this has led more than one physician on the fast track to burnout.
It makes me wonder what the impetus is for developing these gene tests. Too often in Obstetrics, it feels like the entire point of prenatal testing is to abort the pregnancy should it be deemed “defective”. I know this isn’t always the case. Being given time to adjust, grieve and mourn a very real loss can be helpful to so many families in this situation. Often, the worst part for families dealing with childhood illness is not having a diagnosis. Even if you can’t treat it, there is real relief in giving it a name and description of what to expect. It is not my wish to stand in judgement of any parent who has faced such a very difficult situation. Certainly facing the choice of “terminating” vs palliative care is heartbreaking either way. I have to say I was absolutely floored by the video interview of this family and the courage they took in loving, embracing, and caring for their child with Edward’s syndrome for the duration of its very brief life.
It would have been so easy not to get attached. It would have been simple not to mourn. It is the default protection response of many. It is a form of denial, the first stage of grief. I think it stops the grieving process dead in its tracks, and can make a family sick. You never get the chance to try to make peace with the tragedy.
I think this story is a beautiful example of what can be gained by not giving in to this impulse. In short, families are allowed to grieve, to cherish a memory and their short time with the baby. Then they can heal. Sometimes we need to allow pain to wash over and immerse us in order to move on and be healed. We need to grieve, and grieve fully.
The number of families that choose to carry a pregnancy with a terminal diagnosis to term is unknown, but definitely a small minority. They face family and friends who are often baffled by their decision not to terminate. One small British study showed that the number of families who choose this options reached 40% when perinatal hospice is offered. This tells me there are many who would like to see, spend time with, and know their infant and be able to tell them good bye. They just need a little help and support in doing so. What a wonderful cause.
Anyone who is interested in learning more, supporting, or referring a friend to perinatal hospice can find information at Http://www.perinatalhospice.org