ALS

Today I saw my first patient diagnosed and informed that she probably has a fatal illness.

She is educated, plays the cello, just moved to the city.  Over the past eight months, gradual weakness turned into sudden unprovoked falls, difficulty climbing stairs, and finally difficulty walking to a taxi or even to the restroom.  She finally came to the emergency room because of multiple falls.  She can no longer play the cello because she cannot sit upright unsupported.

The neurology team has been trying to come up with a diagnosis - any diagnosis - except for ALS, or amyotrophic lateral sclerosis, a progressively debilitating disease that affects the nerves to muscles in the extremities.  Initially weakness progresses upwards until finally it reaches the muscles of eating and breathing.  Patients live on average for 3-5 years.  However, this patient's disease has progressed so rapidly that maybe she only has another 6 months left, although we can never say what will happen to an individual for sure.

The team had not planned to tell her today - they were still ruling out viral illnesses and other more unlikely diagnoses of diseases that we can hopefully treat.  But she wanted to know if she had ALS, and the attending told her, "Yes, I think that is the most probable diagnosis," although we were still ruling out other things.

She did not start weeping, but I wanted to.  She struck me as a phenomenally capable woman, but in less than a year she went from capable to disabled, and in the next few months she may progress from disabled to dead.

The attending physician was very good.  He gave her the information as simply as he could, and with kindness and compassion.  But there is no way to make telling someone that they have an untreatable disease that will probably end with their disability and death pleasant.  He told us afterwards, "Try to avoid the medical jargon.  There is enough agony without confusing the patient."

We will keep looking for some other diagnosis, but it is unlikely.

I am just feeling really sad and down today.  Life is really unpredictable.  You could be mowed down by an evil person in a truck during a holiday parade, or you could find out you have six months to live and that you will die a horrible death unable to breathe (albeit with some help from palliative care).  I could be hit by a car when riding my bike and get a neck or brain injury.  Or maybe I could be, and most likely will be, just fine.

It makes me think, What would I do if I only had six months to live?

I would probably try to publish the scientific papers I have been sitting on for a while, do the research I really want to do in skin immunology, travel to New Zealand, and spend time with the people I love.