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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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And we’re back.  With this blog now in its second year, I am resetting the counter for points of interest, my irregularly irregular romp through all things mind, body and soul on the internets.  I waited on this oune until the weekend when I have usually put these out and as such had too many great posts to include.  Sheesh, slow down bloggers.  If only my muse were so kind.  Anyway, without further delay, I present the best I could find- Read the rest of this entry »

First Published May 29, 2008.

  It turns out that trust is chemical, at least according to modern neuroscience and research into oxytocin.  Oxytocin is a hormone produced by the neuron part of the pituitary gland that has long been known to strengthen uterine contractions in childbirth and to start milk production in breast feeding.   More recently, scientists have started to understand its role in brain and behavior with key role in trust. Read the rest of this entry »

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

First Published on March 10, 2008

He who fears he shall suffer, already suffers what he fears. ~Montaigne, Essays, 1512

Fear is a very primitive emotion, setting off a chain reaction of events that pumps our blood full of adrenaline, raises our heartbeat, tenses our muscles, expends our energy, and quickens our thoughts. This is the essence of the so called “fight or flight mode.” It is very necessary for our physical survival that we recognize danger and react to it. Its result is a complete shutting off of higher centers in the brain, in order to focus all our faculties on a threat.

While fear is good for survival, the behavior that results has lead to some of the ugliest, most savage, animalistic atrocities that our race is capable of. Read the rest of this entry »

First published Jan. 13th 2008.

Disclosure–This is an intensely personal subject for me. I suffer from Major Depression, I have had to come to a knowledge of this thing both as a patient and a physician and as a committed religious person. In my journey, I have gained a LOT of perspective and at a painful price. Ironically, I think the biggest reason I still use the Doc pseudonym for posting is the stigma this problem might create for me as a physician. My particular story is to come in a later post when I am in a more soul baring mood.

Who is to blame for depression? Ourselves, God, the devil, our genes, our culture, our loved ones, our experience, our brain? The question is perplexing and has loud advocates in all camps. Everyone wants to fit it into their boxes and have their own solutions. In my experience each is incomplete. A condition arising at the seat of consciousness, with devastating consequences for our families, our relationships, our work, our personal happiness and yet leaving no marks is difficult for us as humans to reconcile. However reconcile it we must, because Depression carries with it a mortality in the form of suicide. Read the rest of this entry »

I am not typically a holiday person. My socially phobic nature would have me out of costume at Halloween, staying in New Year’s Eve, and away from the crowds on the Fourth of July if it weren’t for a wife who drags me out.

    Somehow, this all changes at Christmas. Instead of dragged down, I’m somehow energized by it. I love everything about it. My winter doldrums and seasonal affective disorder always lifts for a few weeks, until it comes crashing back down each January.

   Read the rest of this entry »

   Isabella Mori, at Change Therapy tagged me earlier this week to participate in Blog Action Day, October 15th, in a crusade to tackle one of the great plagues of mankind, Poverty.  I have been very extraordinarily busy this month and my blogging has suffered but I figure better late than never.

  It turns out that one simple thing we all can do is click.  Yes, you can fight poverty by surfing the internet.  I am told that Doctors without Borders, a charity that is currently leading the fight against poverty in the neglected regions as Darfur in the Sudan and in Haiti, can use your help in an internet bid to award the most voted charity 1 million dollars.   Please Click here to vote, or you can click here to head on over to Scott Schachters blog and learn more.

      My problem remains, I don’t know that I have anything earth shattering or enlightening to share on the subject.  I was feeling powerless and paralyzed until I read these words from author Gretchen Rubin at the Happiness project

One of the most important principles I’ve learned from my happiness research is that although we assume that we act because of the way we feel, often we feel because of the way we act.

This is a case where actions are more powerful than words.  My pessimistic side tells me that if there was an easy solution to this, I think we would likely have rid ourselves of it long ago.  That doesn’t change the fact that I CAN do something, earth changing or not.  So in the spirit of doing what I can, when I have no idea what I can do, other than give to worthy charities such as Oxfam, the Salvation Army, or the Humanitarian Aid fund of my church, I share this video. 

     This song was written by fellow Mormon Kurt Bestor and captures the poignancy of the problem from God’s perspective in a manner that will rip at your heartstrings.  Can you hear the prayer of the children? 

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