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I cannot imagine anything harder than the suffering I see too many parents go through when their child has a fatal, progressive  neurodegenerative disease.  With the diagnosis they lose their child’s future just as suddenly and unexpectedly as if they were hit by a Mack Truck.  However,  instead of the process being over in any brief period of time, it is often drawn out over many years.

Leukodystrophies, Mitochondrial disorders, Inborn errors of metabolism,  Rett Syndrome, Duchenne Muscular Dystrophy and a host of other heartbreaking diseases are a death sentence, only one that is indefinitely prolonged.   In all these examples the child gradually loses abilities he or she once had.   Read the rest of this entry »

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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

It’s Baaack, I have scoured every corner of cyberspace, selflessly and tirelessly in a relentless, never ending search for that which enlightens on the subjects of mind, soul, and body and then I got tired and took a nap.  Anyway, here is the fruits of my labor, especially for you, the reader, I present the best of the Internet- Read the rest of this entry »

When I was in the third grade, I learned about this very cool thing called a bike-a-thon.  I could take my bike and by just riding it help cure cystic fibrosis, a disease that I had no idea what it was, but sure sounded bad.  In my idealistic eight year old mind this just seemed like it just having fun for a good cause, so I signed right up and went for it.

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My second grader sister heard about the same thing and decided she had to do it as well.  That was a pain.  This meant every pledge I went to get had to pledge equally to the both of us by royal decree of my mother.  I was irritated, but we both pluckily canvassed the small town of under 1,000 inhabitants, all of whom knew our family, and gathered pledges.  I knew no fear in those days, heck, I didn’t even realize knocking on doors asking for money is annoying in my innocence. 

    Pledges were made per mile and so the first question we were asked was how many miles we were going to bike.  I pulled the number twenty off the top of my head as it seemed a nice even number.  I still remember some of the amused, patronizing smiles as these wordly wise adults then penciled in their donation.  Our pledges piled up and we ran out of room to contain them, requiring extra pledge sheets.  What’s the harm in donating to a couple of naive kids playing grown up biking on their Schwinn’s after all.   Read the rest of this entry »

     When I was in medical school, I was treated by my wife to a fascinating and gripping performance by Tom Hanks in the movie, castaway.  While I can’t say the movie was profound or life changing, I found its depiction of isolation and loneliness was quite powerful.  In the movie, Tom Hanks works for FedEx, where the plane he is riding crashes into the ocean.  He is the sole survivor marooned on an Island. 
     It is a very basic man vs. Nature plot, as he creates fire, steps on bad things, hurts his hand, bleeds, has a basic cavity volcano into a horrific abcess in the absence of a dentist, etc. al etc.  In the midst of all this, washing up on the shore of the Island with him are a few FedEx packages, one of which containing Wilson volleyball.  It happens to be nearby when he mauls his hand in a firemaking attempt and he smears blood on it.  A little later he fashions the stain into a face, cleverly calling it by the moniker splayed across the ball itself, Wilson. 
     The amazing part of the movie is that as Hanks feels more and more isolated, he anthropomorphizes the ball more and more.  He converses with it throughout the movie as a friend and confidant.  After some years, he escapes the Island on a makeshift raft, Wilson in tow.  As he sleeps, the ball falls off the raft and floats away.  Hanks is besides himself, grief stricken, and forlorn, and wails pitifully for the return of Wilson.  The audience themselves (well me, anyway)  experience this surprising sense of loss as well.  We grieve as He grieves.  Thus, the intrinsic human need for other human contact is put on bright display.  It is a need so powerful that in its absence we will create it out of contact with the inhuman, even the inanimate.  It turns out humans have a basic need for each other. 

Castaway, the story of a plane wreck survivor and the volleyball he loved. (now that's lonely)

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His room was a shrine to his own memory, a eulogy for a still living, and breathing child. Pictures adorned the the door and the wall, smiling, vibrant, full of life. This boy last week was a healthy, happy, growing, developing two year old child. Colorful children’s crayon scribblings were placed at strategic intervals to liven up the cold, stark hospital room. Get well cards from extended family are also peppered around the walls. Over his crib, lies a recent portrait, the big smile and engaging eyes standing in stark contrast to the current blank stare. His limbs lay motionless, stiff, rigid, spastic, with toes pointed, betraying signs of a brain ravaged by lack of oxygen. He has been having seizures, with eye fluttering, and facial twitching about multiple times per day despite two anticonvulsant medications. This and breathing are the only spontaneous movements he makes. All this, the result of a single grape.

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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.

Read the rest of this entry »

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