The Clinical Fallacy of the Assumption of Positive Normalcy
Posted by Mike O on June 8, 2008
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.
Bottom line: we have 5 highly-specialized, top-tier doctors, all with differing views on what is to be concerned about. (Note, I mention no names: that’s to prevent people thinking lesser of any of them. They are all excellent doctors, in their own ways.) The issue of what to do about it has become a little more clear, based on the more expertise that the doctor has in NF2. The more experience they have, the less they actually want to do about it.
UPDATE: This study from England says it all. Some pretty depressing graphs in here, until you get to the last one; the mortality differences between ‘specialty’ and ‘non-specialty’ centers. A 20+ year difference at to 80% level??? How much of this is the inherent incompetence to be found in a socialized system is anybody’s guess.
It all has to do with normality. Tumors like Alan’s are far from normal, and the natural reaction of the inexperienced is to get them out. The problem is, there is cost associated with removal; cost in neurological function.
Surgeons are point-source ‘fixers’; they resolve an issue at a fixed point of time and generally do not follow the patient through passed the post-op recovery. Rehab gets shuttled off to others. Without the followup of those who track a rare condition from beginning to end, the tendency is to ‘remove abnormalities’, even when abnormality is the norm due to a given condition. My son’s PET scan shows abnormality that looks like some abnormalities in other conditions; therefore, it should be removed.
Really, it comes down to two factors that are of paramount importance: the rate of malignancy in NF2 cases and the growth rate of malignant NF2 tumors. Information on the latter was finally supplied by the 4th doctor; those tumors generally double in size in 3 months which is NOT a characteristic of Alan’s at the moment. The former, is not well documented, but the rates I’ve struggled to find on the internet are in the 5% of all NF2 cases.
What most concerns me is those people without the resources- by location or financial- to get the multiple opinions and/or the views from NF2 specialists who follow the full progression. Or they were diagnosed early on, and their doctors started them on a path of repeated surgical interventions and these doctors are now convinced- by their own early experience- that this is the only path. Many NF2 people I have been in contact with are massively debilitated by the surgical interventions; deafness, unable to walk, blindness, multiple combinations. Sometimes I have to wonder if this ‘striving for normalcy’ was always necessary. Unquestionable in many cases; these tumors can get very big and sometimes very painful. But I seriously doubt all.
Part of it is the fault of the medical practice of the day. Doctors almost never say ‘I don’t know’ or ‘I can’t help’. A lot of that problem is societal; people don’t accept those answers. ‘It’s God’s will’ used to be an acceptable answer when there is no answer; no longer. So the medical community goes to great length to ‘return things to normal’ (or to something that they understand and is non-changing). That sometimes is exactly the wrong approach. Intervention, in medicine and in government, is often the wrong answer.
And what if Alan were to fall into that rare case (less than 5%) of NF2 cases that develop malignancies sometime in the future? Well, the prognosis based on those few cases studied is not good; one study of 8 had no survivors at 5 years. Radiation and chemo seem of minimal help. Treatment options will be up to Alan, but my advice to Alan will be based on my family’s extensive experience with fibroblastic styles of cancer. Of seven of my mother’s family to contract various forms, only one survived it: my mother, going on 25 years after colon cancer. That 91-year-old chainsmoker is also the ONLY one who refused chemotherapy. Chemo and/or full-body radiation seems to do more damage than good in these undifferentiated malignancies; damaging to the body’s own anti-cancer capabilities more than killing the cancer. Differentiated malignancies like my father’s prostate cancer are completely different; chemo can be directed and definitely worthwhile. Considering the survivability figures on fibroblastic malignancies, that might be more general than the medical community would like to admit.