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I stumbled upon this and couldn’t resist posting. Enjoy!

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  All good things must come to an end.  I am in the midst of some major life changes right now, and have found my time and energy for blogging have vanished.  I have enjoyed pouring my soul out into the internet the past year and a half, but my schedule has become such that I am having to phase out my posting and blog maintenance.  I don’t know if this will change after we move,  or if the blogging bug will get me again, but for now this blog is on indefinite hiatus.  I just wanted to let my legions of faithful readers know (both of you!)

Back in the day, I posted a video by a wacky group of harmonizing nurse anesthetists going by the name of the Laryngospasms.  Here is another of their fabulous repertoir, lamenting the pain of coming out of anesthesia.  Enjoy, as they report to patients everywhere, that waking up is hard to do.

  Just thought I’d post a little notice that due to being on a busy floor service this month, there will be very extremely light to nonexistent posting.  I plan to return to a regular schedule in April.

So I went ahead and made one of these for my site because I can’t think of anything to actually write and I have to say looking at it, I still don’t quite know what my blog is about.  I guess you can’t complain I don’t have variety.  The key if you were wondering is…. a Thesaurus.  Which reminds me, that “regarding” is too darn big  hmm… what else to use….. relating to, about,…. what else is there?

Wordle: mind, soul, and body

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?

math joke 

Okay, so maybe the title means this is king of an excessively small kingdom, but it beats the

Q: why was six afraid of seven?

A: Because seven ate nine.

  Which is the only other math joke I know.  

    My inner geek was rolling when I saw this, at Get Religion, of all places. I just had to share this.  For those who roll their eyes or think me hopeless, I just took the test and it seems I’m the Cool Nerd King.  Put that in your pipe and smoke it.

NerdTests.com says I'm a Cool Nerd King.  What are you?  Click here!

Mental Health blogs come in two different varieties, both of which appeal to me personally, as someone who lives with Major Depression, I do relate to those who are suffering through the same or similar issues.  My sidebar tends to focus on social phobia, anxiety and depression for this reason.  The internet can be a wonderful support group.  The professionals, on the other hand, are great just for their wisdom and productive advice.  They are of necessity more general, as blogs could never, ever substitute for working face to face, but they give me insight into the mind and discuss research, evidence and controversy..  In the end, I follow both.  Here are a few of the ones that really spoke to me and offer sage advice besides. Read the rest of this entry »

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