The Clinical Fallacy of the Assumption of Positive Normalcy

First off, the great news.  My son’s condition apparently is not as bad as first feared: it is not likely his condition has turned malignant, according to the most NF2 knowledgeable in the field.  Dealing with a rare condition is often a lesson in learning how much people of high specialty don’t know, as is seems to be in this case. 

Specifically, they performed a test (PET CT Scan, which measures the uptake of radioactively tagged glucose) that is rarely done on NF2 patients and spoke with a level of assurance not warranted on the meaning of the result.  Had we not been the types to do ‘due diligence’, as one doctor put it, we would have gone with the opinion of the first two doctors (the radiologist and neurooncologist) and had Alan scheduled for surgery that would cause permanent debilitation of his right leg.  Even the severity of that debilitation is an issue: one doctor said it would be mild, while two said it was dependant on nerve dominance, with one fairly sure that leg bracing will be required. These last two doctors expressed more concern about Alan’s other tumors that the one in the leg; one more concerned about the slow growth of the acoustical neuroma that affects his left hearing, the other a small ependinoma in the spinal cord. 

Family Fear: will Grandma outlive Grandson?

UPDATE: My mother passed away on July 19th, 2009.  It didn’t take a year of being dependent on medicare/medicaid daily care in a nursing home to do what 70 years of smoking couldn’t; sap the life from her.  Once bedridden and blind, the government’s answer to healthcare really dooms you, even with family showing up almost every evening to supply supplemental care.

My mother is 91 next month and smokes a pack a day.  A few days ago, we found out she has an outside shot at outliving my 20 year-old son.  Alan has NF2, a genetic disorder leading to normally benign tumors on the nerve sheaths.  In the last two years we’ve been dealing with this, all it’s cost him is about 75% of his left ear’s hearing, some facial palsy and a weak left foot.  But tests came back a few days ago that suggest his largest mass may have gone malignant; meetings with the surgeons start next week.  The best outcome likely from the removal is significant weakness on his right foot and abdominal muscle.  If it is indeed malignant, prognosis out just two years is poor and not much fun during that time.  Still, some make it out 5 years, a handful to full remission.  Hard to know when you’re dealing with a condition that they see in maybe one in 250,000 at most.

So what are we doing this week?  What we had planned to do before; go whitewater rafting in Colorado, clearly for Alan’s last time.  These things are like the river we’ll be rafting:

• You have very minimal control of the actual end point, but you try to use skill and a cool head to ride it out the rough stuff the best you can.
• You try to look like you know what what you’re doing and that this is the most normal thing in the world, even when it isn’t.
• You realize that maintaining the quality of the ride is far more important than the duration.

Needless to say, my posting frequency will likely suffer and the contents will definitely take on a different tone.  I will add one quasi-political note: say what you want about American health care, but my boy would pretty much have no chance anywhere else.