What is the art of what you do?
When you think of medicine, particularly in the western hemisphere, it is based on science and science is based on evidence, on experiments, on data that come from placebo-controlled studies that are fairly hard-wired. We take that very seriously — knowing what we do is actually correct, and what we believe is actually true. That’s somewhat different than other approaches to medicine, particularly in Eastern medicine, such as in China where the standard of practice is not necessarily based on our concept of scientific proof, but based on lore and oral tradition that’s passed through the generations, such as acupuncture. For many years, particularly early in my career, I scoffed at medical practice that wasn’t based on hard scientific proof. Then I got into botulinum toxin as a major part of my career; what many people know as Botox. Botox is used for many different disorders. Most of the public knows it for wrinkles; cosmetic use. For me as a neurologist, I’ve used it for neurologic diseases, some of them very serious, like stroke and movement disorders. How does that get to the art of what I do? It turns out that to properly treat patients with botulinum toxin one has to move into the art of medicine, because much of it isn’t necessarily proven in scientific studies. We have learned to do what we do based on what we call empirical observations, or experience. We’ve refined certain techniques and have learned this ‘art’ which frankly very few people in the world have mastered, and so we’re going back and trying to prove it scientifically with placebo-controlled studies, with more rigor, so that we can get published studies in the medical journals. If it’s accepted by the scientific medical community and the FDA, we’ll be able to disseminate this “art” to a world-wide audience so that many patients can be treated.
How did you come to try this drug for movement disorders and stroke?
When you think of how medical advances are made, there are different approaches and different evolutions. In some circumstances it’s a very methodical approach from basic science laboratories to animal studies to human studies and that type of step by step approach. There are other examples, and the one we’re talking about now, Botox, is one in which creative doctors and clinicians take chances. We sometimes call it serendipity. I’ll give you one example. A doctor in LA was treating patients for wrinkles with Botox and some of the patients were coming back, saying that their migraine headaches were better. This was completely unexpected. Why would treating wrinkles with Botox get rid of migraines? Those serendipitous observations led to research studies and now Botox is FDA approved for the treatment of chronic migraines. In my case, in the early 1990s in collaboration with an orthopedic hand surgeon, we saw a young man who had a traumatic brain injury from a car accident. He had devastating paralysis in half his body and his arm was curled up like a pretzel, known as spasticity. He had developed a calcium deposit in the elbow called heterotopic ossification. The surgeon needed to operate on him, but the arm was so crunched up and spastic the surgeon couldn’t access the problem. He asked me if there was anything we could do, even temporarily, to get the arm open. We said there’s this medicine out there -- Botox-- that people are using for other disorders that relaxes muscle - maybe we can try it. To my knowledge, it had never been done before, and there was nothing in the medical literature. We tried it and the arm relaxed and he was able to do the surgery. That opened up this entirely new field for the use of Botox for spasticity.
If you’re experimenting, trying something that hasn’t been done before, are you ostracized for doing things that are unproven?
In some ways one of the most exciting parts of the medical experience as a doctor is to try something that’s never been done before. That said, there are people who are doing things that are inappropriate and could be dangerous to patients. One has to be very careful to do what’s called a risk/benefit analysis. You need to be able to say: ‘what I'm doing is rational, has a good foundation in terms of why I’m doing it, and is not of undue risk to a patient.’ If you can’t support that, you shouldn’t be doing it. The fact is that in order to advance medicine, often somebody needs to take the first step -- as long as one isn’t putting patients at undue risk. Sometimes the lines are blurred. Botox can be dangerous drug, and in very rare circumstances, it can harm and even kill people. One of the things we always stress in our research and when we train other doctors, is that safety is always paramount.
How much of the brain does medical science really understand?
Much of the brain we don’t use — or at least we don’t completely understand how it is used. The brain is by far the most complex organ in the body. The biology of medicine has advanced dramatically over the last century and we certainly understand much more than we once did. That includes the biology of neurons, genetics, neurotransmitters and chemicals in the brain, and that’s led to tremendous advances in therapy in many medical diseases, whether it be epilepsy, multiple sclerosis, stroke, and in my area - neuromuscular and movement disorders and spasticity.
You’ve put much effort into researching focal dystonia. What exactly is it?
Dystonia is involuntary muscle overactivity. For example, if when writing or when playing a musical instrument, the hand curls up into muscle overactivity, a cramp or spasm, that’s an excess of movement. Focal dystonia turns out to be one of the big mysteries in neurology. We don’t completely understand why focal dystonia occurs. When we look at the brain in MRI scans, we usually don’t find any specific abnormalities in the brain. So the prevalent thinking is that dystonia is due to abnormal wiring of the nervous system at a neurophysiological level. The motor control pathways are somehow distorted for reasons we don’t completely understand. How does one write in a coordinated fashion? It starts in the brain. Cells in the motor systems in the brain need to control the proper coordination of your hand. Think of the intricate circuits that are required to do that properly. It’s amazing that anybody can do it correctly. When the motor control pathways become distorted and aren’t working normally, then one develops a disability like focal dystonia.
How does the brain become cross-wired to bring this on?
There’s something called musician’s dystonia that can affect professional musicians, such as world-class soloists, pianists, violinists, and drummers. Abnormal dystonic or overactivity of muscle may develop. This tremendously limits their ability to play — in fact many musicians are so disabled they can’t play at all. We don’t know why it happens to some and not others Several famous musicians have developed this disorder and have publicized it, including the pianists Gary Graffman and Leon Fleisher. Perhaps there’s a genetic predisposition — it’s not been identified clearly. One interesting theory is the question of repetitive activity, such as endless practice. Think of what a violinist goes through and how many hours they spend practicing to become a professional. Think evolutionarily - is it normal? Are we wired to spend four, six, eight hours a day doing the same repetitive activity, like practicing violin? The brain may respond in the wrong way, triggering this abnormality as a result of all those hours of practice for so many years. It’s a theory, but not proven.
That would then mean that the brain has a mind of its own.
That’s sounds like a pun, but it’s true. The brain sometimes responds in ways that may be maladaptive and there are experiments to show that it may well be the case. By the way, that’s true in psychiatry as well. As we understand more about psychiatric disease, depression, anxiety, schizophrenia, this may be the brain reacting in some fashion or another to create problems that shouldn’t be there because as you said, the brain has a mind of its own. Sometimes it does the wrong thing.
How often does a musician come to you, having no idea why suddenly they can’t play - their hands don’t cooperate, they’re curling up, they’re unable to do what they’ve always done. Then they get an answer - it’s focal dystonia. Walk us through that.
It happens often. If you look at focal dystonia as an example, patients can go for many years before receiving a correct diagnosis. It’s often diagnosed as carpal tunnel syndrome, or a pinched nerve. They’ll often have unnecessary operations — surgeons like to operate, it’s what they do. Unfortunately, in much of the medical community these disorders aren’t well recognized, or well understood. Sometimes they’re attributed to psychiatric problems like anxiety, or depression. Then finally the patient will get to a doctor, perhaps a neurologist, a movement disorder specialist, who correctly identifies what they have — a neurologic condition with a name - focal dystonia. Then you can begin talking about treatment. We can often return patients to 90 - 100 percent of their normal function. Ultimately if one really wants to cure disease you need to know the cause of the disease. And there are tremendous advances been made in neurology, but there’s still a long way to go.
What’s your approach to working with patients?
The most important thing when working with the patient is to understand what they need and what they want. If I ask 10 patients what’s important to them, I will probably get 10 entirely different answers. We call that goal setting. Many doctors don’t understand the fact that medicine is not a cookbook. When you have patients with desires and expectations, you need to address your treatment to the goals that they want to reach. This is particularly important when we think of botulinum toxin therapy. Where we put our needle and where we inject the medicine is going to be different in each of those patients. That’s part of the art of medicine — to understand how to put yourself in the patient’s seat and understand what is it that they really need. In medical school we do a very good job of teaching students science, but to teach them the art of medicine, not to mention the compassion and empathy of medicine, those are sometimes more difficult to impart. I think in many ways that separates the best doctors from the lesser ones; being able to achieve what the patient really wants. Sometimes their goals are not achievable. Frankly, I see many patients where I might have to tell them: ‘I don’t have a diagnosis for you, and I don’t necessarily have the treatment that I can guarantee is going to make you better.’ Having the confidence to tell somebody ‘I don’t know,’ is an art. This is not easy for many doctors because it’s very uncomfortable to tell someone that you don’t know.
What do you do when you don’t have the answers but you still want to help them?
We talk about quality of life. What can you do with a patient who may have an incurable disease like ALS -- a disease that you know is going to kill them? Or a malignant brain tumor - it’s going to kill you. What do you do? I have a sister, my best friend in the world, who has a brain tumor — primary lymphoma of the brain. Fortunately, that’s now a curable disease and she’s 10 years from diagnosis and disease-free after incredibly intense chemotherapy. Something that she shared with me that I’ve taken to heart was this: All of us are on a clock that’s ticking. We’re all going to die. We don’t know when. Most of us don’t think about it very much if we’re healthy, but the fact is, we’re going to die. Sometimes that time clock is collapsed when you get a diagnosis like ALS or malignant brain tumor, and you hear that you have 6 months or a year. Whether you’re going to die in the next three years, or in the next 30 years, the key is maximize quality of life for whatever time you have. One of the things I tell my patients with fatal diseases is “yes, we can’t cure you, I don’t have a treatment that’s going to be able to reverse this, but let’s see what we can do to take that time you have left and make it as positive as possible for you and those around you.” Many patients are able to do that. That’s part of being a doctor and an artist. That’s the art.
Q: There are many elements of what you do. How do you tie all the pieces together?
I am a researcher and a scientist trying to advance the knowledge of medicine, both in terms of understanding disease and treating disease. I’m a teacher; I teach medical students, residents, fellows, attending physicians. I’ve been fortunate to travel all over the world to teach and collaborate with doctors in the developing world, such as Africa where I did AIDS research, as well as in Eastern Europe, Russia and South America. What I do is a combination of all those things; patient care, research, education, administration. I try to juggle all those aspects of my career to help others and also to help myself. At the end of the day I need to be able to put my head on the pillow and say; ‘You know what - you had a good day. You did something today that you can be proud of.’ That’s a good feeling; to go to bed with the knowledge that what you do makes a difference.
David M. Simpson is a Professor of Neurology at The Icahn School of Medicine at Mount Sinai, Department of Neurology. Learn more about Dr. Simpson here.