Thank you, Dr. Renard (Mary). I appreciate your encouragement. Let me respond to parts of what you have written, with no animosity – so if it sounds like I’m picking a fight, please be assured I’m not.
- Mary Renard Said:
What I do want to say, as a practicing physician, is this: spoxjox, I understand and appreciate your frustration. It is clear that you have become well-educated about this condition and you have done a great deal of thinking about its impact on your life. It sounds terrifying and you are understandably feeling tremendous urgency to solve this dilemma in a way that is helpful for your future.
However, I will tell you that I encounter people on a regular basis who are very sure of their situation, very sure what will work for them based on their research or past experience, and very unwilling to accept that the doctor's role of subject matter expert is why the doctor has to write the prescription or order the test, and then provide the follow-up for that test or prescription. In my office we privately refer to these people with a sardonic, "Would you like fries with that?" They have completely discounted the value of my expertise and all they want is my signature on a script. They do not want to acknowledge that my signature on that script represents my statement: "I know this patient. I am familiar with his condition. I have examined him. I believe that he needs this test/medication because of my clinical judgment and my diagnosis."
However, I will tell you that I encounter people on a regular basis who are very sure of their situation, very sure what will work for them based on their research or past experience, and very unwilling to accept that the doctor's role of subject matter expert is why the doctor has to write the prescription or order the test, and then provide the follow-up for that test or prescription. In my office we privately refer to these people with a sardonic, "Would you like fries with that?" They have completely discounted the value of my expertise and all they want is my signature on a script. They do not want to acknowledge that my signature on that script represents my statement: "I know this patient. I am familiar with his condition. I have examined him. I believe that he needs this test/medication because of my clinical judgment and my diagnosis."
I can understand what you are saying. I believe my situation is demonstrably different, however. I do not discount a doctor's advice; on the contrary, I welcome it. I do wish most fervently not to have a positive diagnosis on my chart, however, and for real and (to me) sufficient reason. And when I express that wish and am told, in response, that I don't have the understanding or maturity to "deal with these issues", well, yes, it does tend to raise my hackles. I am not a minor child to be treated as the grown-ups see fit. I am not property of the state, to be dealt with as benevolent Big Brother finds appropriate. In the politically incorrect, racist, and yet somehow still humorous expression of my grandparents' day, I'm "free, white, and 21" (well, pasty and 47, but you get the gist of it).
I want to know the state of my genome. I'm willing to pay for the test out of my own pocket. I resent that any institution feels it has the right to insert itself between me and a knowledge of my own health. I suppose I resent even more that some institutions do indeed have that power. Saying that I want to know if I have a certain genetic disorder is a far cry from saying that I want a prescription for such-and-such medication.
- Mary Renard Said:
You want to be a doctor - you want this test because you are trying to decide what to do towards that goal.
True, but does it matter? If someone wants to know whether he has some certain disease, doesn't he have the right to know that?
- Mary Renard Said:
So I would submit to you that, along with pursuing this test, you learn more about why doctors feel very responsible for any test ordered for anyone, how we feel responsible for ensuring that the interpretation of the test is appropriately communicated, and why we are not keen on simply handing information over to people no matter how much they may state that they can handle it or how sure they are that they can understand it. I have had Ph.D. biologists who had completely wrong ideas about tests that I was ordering for them. They're well-educated, but they are not physicians.
Fair enough. But again, I think the situation of wanting to know a specific about my own health is much different from assuming I know which prescription I should get or which tests I should order up.
If a patient asked you, "Doctor, would you test me for an STD that I am afraid I might have, but can you also keep it off my chart?", would you think that patient presumptuous? If you told the patient you could not do that, would you think him overstepping his boundaries if he asked you how he could be tested for the STD without a record being made of it? I may be wrong, but I suspect most doctors would not find this presumptuous at all. Yet I'm not asking to be tested for a communicable, possibly fatal, disease that makes me a public health menace. I just want to know if I have an inherited genetic condition.
- Mary Renard Said:
There is a reason that I went through four years of medical school and three years of residency. People who come to me benefit from those years of learning and the years of practice since. The people who want to be their own doctors, who prompt me to think "do you want fries with that?" are short-changing themselves and giving me no credit whatsoever for the expertise that I have developed.
Again, I appreciate and agree with your insight, but I don't think my situation is the same.
My wife and I homeschool our children. Countless times we have been lectured by public school teachers about how they went to school for years to be able to teach our children well, and we cannot possibly have their knowledge or do as good a job as they do. Yet our children consistently test above the 95th percentile in scholastic performance. The teachers are right; I don't know how to teach a classroom full of 25 students with whom I'm only passingly familiar. But I know how to teach my own babies that I have raised from infancy, in many (or most) cases better than a teacher who has only known them for a hundred hours or so.
Similarly, I'm no doctor and do not have the expertise even to pretend to be one. But I have been exposed to the effects of SCA-6 and have a pretty good idea what it's all about -- ironically, a much better idea than the majority of doctors, most of whom know little or nothing about spinocerebellar ataxia without looking it up in medical books or Googling it (exactly as I have done!).
- Mary Renard Said:
I wish you success and hope that you get the good news you are so ardently seeking.
Mary Renard, M.D.
Mary Renard, M.D.
Thanks so much. If I manage to get the test done and it comes back positive, I will have some difficult choices to make regarding how I prepare for the rest of my life, but I'll stop back in to share the diagnosis and wish you all the best in doing what I'd like to do. If it comes back negative, then I will have some equally hard (but much happier) decisions to make regarding the direction I want my life to take.