I completely agree with your observation that Nancy Wexler exhibits symptoms of Huntington's in that video clip. I say that not as a doctor, but as a person who spent a lot of time with a friend with Huntington's. That friend had the same rolling of the head and shoulders, and the same expressions of the mouth and lips. It is something I have not observed under different circumstances.
The end of his story was not good for his family. First, the beginning: he was an excellent sailplane pilot who lost confidence in his ability to stay cool under stressful circumstances. This was not so much because of the disease, but rather because of some medication he was taking, and the negative effect it had on him just when he most needed to remain cool. I offered to fly with him from that time forward.
We flew together four years, out of numerous locations all over the American west, having great flights and even earning records in four different states. But his condition was deteriorating and we could both see it.
Then he started flying with another pilot and stopped flying with me. No reason -- he just did. He called one day and invited me to dinner as he was passing through Carson City to fly with the other pilot in Utah. We had a nice dinner, but when I walked through the parking lot back to my car I had a sudden thought that I wouldn't be seeing him again. I wouldn't call it a premonition -- more of a fleeting thought.
The call came two days later -- he and the other pilot apparently spun in during a long flight. It was fatal for both.
Mortality is a heckuva thing. No one gets out alive. Brings to mind my favorite scene in Tolkien’s trilogy:
[Frodo] “I wish it need not have happened in my time.”
[Gandalf] “And so do all who live to see such times. But that is not for them to decide. All we have to decide is what to do with the time that is given us.”
Edward Rosenbaum's memoir "A Taste of My Own Medicine" contrasts his decades of experience as a physician with the year he spent as a cancer patient. After fifty years of practicing medicine, he wrote, "I still do not know what to say to a doomed patient. A visit to a terminal patient is very painful to me. As I approach the room, my muscles tighten and I feel anxious. I know that the patient will watch every movement and every expression. Since my presence in the room seems to give the patient comfort, I tarry a little longer than usual but really, I can't wait to get out. I am relieved when I walk into the hallway. As I close the door, I am already preparing myself for tomorrow's visit. As the end approaches, each visit will become more painful."
Rosenbaum's book was made into a movie, "The Doctor." The plot is the same, a physician's experience as a patient, although the movie takes considerable dramatic license.
When I was a student in the previous century, a mentor taught me a principle which held up well: "Before ordering a test, ask yourself what you'll do if it's positive. Then ask yourself what you'll do if it's negative. If the answers are the same, don't order the test." I think that applies to genetic testing.
And "It's probably nothing" should never be said without explanation. Sheesh.
I was misdiagnosed with Idiopathic Pulmonary Fibrosis...a guaranteed killer. 6 weeks before I could get a second opinion. I have a friend whose family always passed in their 50s or 60s. Turns out, he actually has the disease. His kids tested for it. One positive to get it, one negative.
Part of the title to this essay (“Worried Well”) and your reaction to the chest X-ray you received at UVA (“now I can worry about one thing rather than worrying about every possibility”) reminded me of a valuable lesson I learned while watching the Tom Hanks film, “Bridge of Spies.”
In the movie, which is based on a true story, Hanks plays the part of a lawyer (James B. Donavan) who is called upon to represent Rudolf Abel on charges of espionage, i.e., spying for the Russians.
When Hanks met with his client for the first time, he explained the charges, noting a conviction could result in the death penalty. When he finished, Hanks was a bit surprised by his client’s calm demeanor and seeming lack of concern, so he says, “Mr. Abel, you don’t seem alarmed.” Mr. Abel, shrugged shoulders and said “Would it help?”
Later in court, while sitting at the defense table and waiting for the trial to begin, Hanks reviews the state play, which was bleak, with his client. When he finished he asked Mr. Abel, “Do you never worry?!?” Again, Abel says, “Would it help?” (You can watch a YouTube clip of these scenes from the film here: https://www.youtube.com/watch?v=Yylz3pHE5Vc)
My baby Brother recently passed away at the age of 71 and suffered from various conditions resulting from RA and it's treatment. I'm 77 and am in good health other than aches and pains gained by an active life style and a career of working outdoors. He always said my lack of health issues was because I avoid Doctors and their determination to test until something reveals itself. Fact: None of us get out alive.
As a 72-year old physician, I have lived a full live. I am in excellent health and have no signficant medical problems nor any real limitations in what I can and cannot do, beyond some sensible things that I won't tempt fate by doing now, e.g. jumping on a trampoline, playing tackle football, etc. I am enjoying the present and have no interest in going back and reliving my life, although I do enjoy reflecting on how amazing my life has been. I am re-thinking all the usual recommendations that I used to make to patients about screenings, testing, and such. At this point in my life, if I am diagnosed with cancer, I would investigate carefully whether I would be better off with treatment or letting the disease run its natural course. Of course, that is hypothetical and, if I am actually faced with such a decision, who knows which I will choose? I would definitely not choose to prolong my life once my ability to enjoy it or contribute are gone.
Another thought provoking post. I am definitely in the “don’t tell me” camp.
I thought I’d add this link to my second favorite version of “Que Sera” (after Doris Day’s, of course). It’s from a series I enjoyed a great deal while it was on, “Dead Like Me” and is performed by Pink Martini.
Hey, no fair competing with your fellow writers by having a brilliant in-house artist who makes your clips inviting even without words. Of course, the words are inviting, as well. Nice piece.
Once we start testing large numbers of people for conditions, we have the false positive problem in medical tests.
To illustrate the problem:
Let's say you are told that a test is 95% reliable. You are tested and the Doctor tells you, with a serious face, that you have the condition. What are the chances that you have the disease?
The answer is that it depends on the frequency of the disease in the population. If a thousand people are tested, and this disease affects say 5% of people (50 out of our 1000), then the test will give the following results:
Actual situation: 950 people without the disease. Test result - 47/48 people with the disease
Actual situation 50 people with the disease. Test result - 47/48 people with the disease
Total number diagnosed as positive, say 95 so there is only about a 50/50 chance that you have the disease.
The lower the incidence of the disease, the higher the risk of false positives.
All my life I've heard at my back Time's wingèd chariot hurrying near, as the poet says, and I set myself to get whatever I want done with a constant base stratum of urgency. This is the one and only chance I have to get what I in particular want done, done. No one else will ever see it as I do, cherish exactly what I cherish, want whatever particular stone I want moved forward moved forward in the same way -- or maybe at all. If I don't do it while I am in the light, it will stay right there, where it was when the Universe formed, until the Universe passes into its own unguessable form of dark.
When I see those who piss away the minutes, hours, years of their life fretting or fighting ephemeral tribal dominance games, or marinating their wits in some deadening solution, I am thunderstruck. Do you not understand how short this time is? Is there nothing you want done? How can you bear to waste an hour? It makes it hard to understand the behavior of a fair fraction of my fellow travelers. And I daresay they find me strange.
There is a ense of isolation as one becomes old, which I hear is near universally defined as "over age 60." When I was 20, there were people 20 and 40 and 60 years older than me, and I could ask their perspective, and even if I didn't it filtered down to me from all directions willy nilly like a faint misty rain. But now I look around and they're gone. I can find people who are 5 and 10 years older than me still pretty easily, but 20 are harder, and 30 is really hard, and I only know hypothetically of people who might be 40. Soon enough those numbers will creep down, and I will know nobody 20 years older, and then 10 years older, and then I will be among the very oldest, should I even live so long. To have no one in front of you any more -- its a strange perspective.
I completely agree with your observation that Nancy Wexler exhibits symptoms of Huntington's in that video clip. I say that not as a doctor, but as a person who spent a lot of time with a friend with Huntington's. That friend had the same rolling of the head and shoulders, and the same expressions of the mouth and lips. It is something I have not observed under different circumstances.
The end of his story was not good for his family. First, the beginning: he was an excellent sailplane pilot who lost confidence in his ability to stay cool under stressful circumstances. This was not so much because of the disease, but rather because of some medication he was taking, and the negative effect it had on him just when he most needed to remain cool. I offered to fly with him from that time forward.
We flew together four years, out of numerous locations all over the American west, having great flights and even earning records in four different states. But his condition was deteriorating and we could both see it.
Then he started flying with another pilot and stopped flying with me. No reason -- he just did. He called one day and invited me to dinner as he was passing through Carson City to fly with the other pilot in Utah. We had a nice dinner, but when I walked through the parking lot back to my car I had a sudden thought that I wouldn't be seeing him again. I wouldn't call it a premonition -- more of a fleeting thought.
The call came two days later -- he and the other pilot apparently spun in during a long flight. It was fatal for both.
That is a stunning and incredibly poignant story. Thanks so much for sharing it. Your late friend will linger in my thoughts today.
Thank you. He is in mine pretty constantly.
Mortality is a heckuva thing. No one gets out alive. Brings to mind my favorite scene in Tolkien’s trilogy:
[Frodo] “I wish it need not have happened in my time.”
[Gandalf] “And so do all who live to see such times. But that is not for them to decide. All we have to decide is what to do with the time that is given us.”
Orthodox Jews test for tay Sachs. It has knocked down the occurrence phenomenally. that is basically a death sentence for babies born with it.
Edward Rosenbaum's memoir "A Taste of My Own Medicine" contrasts his decades of experience as a physician with the year he spent as a cancer patient. After fifty years of practicing medicine, he wrote, "I still do not know what to say to a doomed patient. A visit to a terminal patient is very painful to me. As I approach the room, my muscles tighten and I feel anxious. I know that the patient will watch every movement and every expression. Since my presence in the room seems to give the patient comfort, I tarry a little longer than usual but really, I can't wait to get out. I am relieved when I walk into the hallway. As I close the door, I am already preparing myself for tomorrow's visit. As the end approaches, each visit will become more painful."
Rosenbaum's book was made into a movie, "The Doctor." The plot is the same, a physician's experience as a patient, although the movie takes considerable dramatic license.
When I was a student in the previous century, a mentor taught me a principle which held up well: "Before ordering a test, ask yourself what you'll do if it's positive. Then ask yourself what you'll do if it's negative. If the answers are the same, don't order the test." I think that applies to genetic testing.
And "It's probably nothing" should never be said without explanation. Sheesh.
I was misdiagnosed with Idiopathic Pulmonary Fibrosis...a guaranteed killer. 6 weeks before I could get a second opinion. I have a friend whose family always passed in their 50s or 60s. Turns out, he actually has the disease. His kids tested for it. One positive to get it, one negative.
Nancy Wexler is still alive at age 79. If one is going to get Huntington's, start it late in life. Apparently you have 15-30yrs after it first begins.
Part of the title to this essay (“Worried Well”) and your reaction to the chest X-ray you received at UVA (“now I can worry about one thing rather than worrying about every possibility”) reminded me of a valuable lesson I learned while watching the Tom Hanks film, “Bridge of Spies.”
In the movie, which is based on a true story, Hanks plays the part of a lawyer (James B. Donavan) who is called upon to represent Rudolf Abel on charges of espionage, i.e., spying for the Russians.
When Hanks met with his client for the first time, he explained the charges, noting a conviction could result in the death penalty. When he finished, Hanks was a bit surprised by his client’s calm demeanor and seeming lack of concern, so he says, “Mr. Abel, you don’t seem alarmed.” Mr. Abel, shrugged shoulders and said “Would it help?”
Later in court, while sitting at the defense table and waiting for the trial to begin, Hanks reviews the state play, which was bleak, with his client. When he finished he asked Mr. Abel, “Do you never worry?!?” Again, Abel says, “Would it help?” (You can watch a YouTube clip of these scenes from the film here: https://www.youtube.com/watch?v=Yylz3pHE5Vc)
Wise counsel but terribly difficult to follow.
My baby Brother recently passed away at the age of 71 and suffered from various conditions resulting from RA and it's treatment. I'm 77 and am in good health other than aches and pains gained by an active life style and a career of working outdoors. He always said my lack of health issues was because I avoid Doctors and their determination to test until something reveals itself. Fact: None of us get out alive.
As a 72-year old physician, I have lived a full live. I am in excellent health and have no signficant medical problems nor any real limitations in what I can and cannot do, beyond some sensible things that I won't tempt fate by doing now, e.g. jumping on a trampoline, playing tackle football, etc. I am enjoying the present and have no interest in going back and reliving my life, although I do enjoy reflecting on how amazing my life has been. I am re-thinking all the usual recommendations that I used to make to patients about screenings, testing, and such. At this point in my life, if I am diagnosed with cancer, I would investigate carefully whether I would be better off with treatment or letting the disease run its natural course. Of course, that is hypothetical and, if I am actually faced with such a decision, who knows which I will choose? I would definitely not choose to prolong my life once my ability to enjoy it or contribute are gone.
Another thought provoking post. I am definitely in the “don’t tell me” camp.
I thought I’d add this link to my second favorite version of “Que Sera” (after Doris Day’s, of course). It’s from a series I enjoyed a great deal while it was on, “Dead Like Me” and is performed by Pink Martini.
https://youtu.be/PoGKh37SVO8?si=YU6CFRn9ceOQ3wdD
Hey, no fair competing with your fellow writers by having a brilliant in-house artist who makes your clips inviting even without words. Of course, the words are inviting, as well. Nice piece.
I often think we are far too obsessed with testing for possibilities, which keeps us constantly concerned about outcomes.
Once we start testing large numbers of people for conditions, we have the false positive problem in medical tests.
To illustrate the problem:
Let's say you are told that a test is 95% reliable. You are tested and the Doctor tells you, with a serious face, that you have the condition. What are the chances that you have the disease?
The answer is that it depends on the frequency of the disease in the population. If a thousand people are tested, and this disease affects say 5% of people (50 out of our 1000), then the test will give the following results:
Actual situation: 950 people without the disease. Test result - 47/48 people with the disease
Actual situation 50 people with the disease. Test result - 47/48 people with the disease
Total number diagnosed as positive, say 95 so there is only about a 50/50 chance that you have the disease.
The lower the incidence of the disease, the higher the risk of false positives.
All my life I've heard at my back Time's wingèd chariot hurrying near, as the poet says, and I set myself to get whatever I want done with a constant base stratum of urgency. This is the one and only chance I have to get what I in particular want done, done. No one else will ever see it as I do, cherish exactly what I cherish, want whatever particular stone I want moved forward moved forward in the same way -- or maybe at all. If I don't do it while I am in the light, it will stay right there, where it was when the Universe formed, until the Universe passes into its own unguessable form of dark.
When I see those who piss away the minutes, hours, years of their life fretting or fighting ephemeral tribal dominance games, or marinating their wits in some deadening solution, I am thunderstruck. Do you not understand how short this time is? Is there nothing you want done? How can you bear to waste an hour? It makes it hard to understand the behavior of a fair fraction of my fellow travelers. And I daresay they find me strange.
There is a ense of isolation as one becomes old, which I hear is near universally defined as "over age 60." When I was 20, there were people 20 and 40 and 60 years older than me, and I could ask their perspective, and even if I didn't it filtered down to me from all directions willy nilly like a faint misty rain. But now I look around and they're gone. I can find people who are 5 and 10 years older than me still pretty easily, but 20 are harder, and 30 is really hard, and I only know hypothetically of people who might be 40. Soon enough those numbers will creep down, and I will know nobody 20 years older, and then 10 years older, and then I will be among the very oldest, should I even live so long. To have no one in front of you any more -- its a strange perspective.