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Monday, November 30, 2009

Science: You’re doing it wrong

By Jennifer Phillips, Ph.D.

“Science is a way of trying not to fool yourself. The first principle is that you must not fool yourself, and you are the easiest person to fool.”
~Richard Feynman

The majority of my time on this blog has been spent presenting the inner workings of the scientific process: How the research world turns, why it works, how progress is measured, etc. I’ve been relentless in my self-appointed mission to convey to you that, in a nutshell, science is hard to do, and easy to get wrong. It can be humbling, ego-bruising work to question everything you think you know on a regular basis, and putting your most cherished hypotheses out into the world, inviting fellow scientists to deconstruct, challenge, or ignore them, is certainly not for the squeamish. Yet this is how the process works, and, in fact, what makes it so singularly successful. Sound theories withstand challenges and, over time, become accepted. Poorly conceived or incorrect ideas ultimately don’t stand up to scrutiny, but sometimes it can take years, even decades before this acceptance/rejection is complete. Much of this has to do with the pace and rigor of science, as I’ve discussed at length, but there is a human element to the process as well. The quality of the data is important, of course, and understanding and interpretation of the results is no less vital to good science.

Whatever our connection to this community, be it personal, professional or both, we denizens of this corner of cyberspace have a vested interest in the science of Usher syndrome, and thus should support every effort to make sure that the basic and clinical research in this field is of the highest quality. From a professional standpoint, peer-review and other processes are used to ‘vet’ new findings. However, from the perspective of Usher families outside the realm of science, these verification processes might sometimes be difficult or overwhelming to make sense of. If this describes you, you’re not alone. Not only are there many families coping with Usher syndrome who may feel this way, but other families, coping with a variety of different childhood diseases face the same challenges in terms of wading through a sea of information in an attempt to make the most informed treatment decisions for their children.

As if it weren’t daunting enough to try to synthesize the high quality data pertinent to these decisions, the situation becomes even more complicated by the abundance of false or misleading information available in the internet age. There is, regrettably, a great deal of pseudoscience afoot in the medical field. I don’t know of any offhand that particularly targets Usher patients, but it occurs to me that families desperate for something—anything—that might slow the progress of a degenerative condition for which there is no cure could be at risk of being misled by bad science.

As a (hopefully) preventive defense against this, I thought it might be useful to write a few posts about good science, bad science, and how to tell the difference. Some of the treatments I’ll discuss in the future will be specific to Usher syndrome, e.g. Vitamin A or DHA. Others will be more generalized, and selected for their usefulness as an example of either good or bad science. Some such treatments will take more rigor and investigation to pick apart, but as it’s a holiday week, I thought we’d start off with something relatively easy to process, and I’ll start with a topic in the ‘bad science’ category.

The subject of the video below is homeopathy—specifically, the ‘science’ of homeopathy. This is a shining example of ‘bad science’ because, well, there just isn’t any good science involved in homeopathy. For homeopathy to work as its proponents claim, everything we know about physics and chemistry would have to be completely wrong. There are centuries of rigorously obtained scientific data supporting our current views of chemistry and physics, and no evidence to either support homeopathy as a biologically active treatment, nor to explain the mechanism by which it is purported to work. Ergo, it is far more likely that our understanding of chemical and physical principles is sound, and that homeopathy is, however successfully marketed, nonsense.

But far be it from me to just declare something like that without letting the other side have its say. I’ll let the star of the video, Dr. Charlene Werner, take a turn at explaining the chemistry and physics of homeopathy. Afterward, I’ll address some of her specific claims. (Disclaimer: if you have even the most basic working knowledge of chemistry or physics, or biology, or statistics, or mathematics, or logic, viewing this video could result in elevated blood pressure, screaming, weeping, or uncontrollable giggling. Proceed with extreme caution)

Oh….my. Where to begin? Well, from the outset Dr. Werner invites us to remember our physics and chemistry, so indeed, let’s delve into the old memory banks and see what we can come up with. She leaps right out there with Einstein’s E=mc2—the big gun—but, oh, wait, what?
[Einstein] gave us the theory that energy equals mass times the speed of light. E=mc2. OK. If we take that formula, and we think that there's a lot of mass, right? OK. If you collapse all the mass down into the universe, so that there is no space between the mass, do you know how much mass there is in the entire universe? You think you're a lot of mass, right? Well, the whole universal mass can be consolidated down into the size of a bowling ball. That's all there is in the whole universe. So, how much mass are you? That's right, an infinitesimal amount.
Well, I have it on good authority from a Physics professor that, in fact, all of the mass in the entire universe could not ‘be consolidated down into the size of a bowling ball’—far from it. But let’s just chalk that up to inaccurate spatial processing and proceed on the basically correct premise that there is a lot of empty space between stuff, and if you got rid of all that empty space, you could, in principle, pack all the mass in the universe into a smaller area than it currently occupies. She goes on:

So if you take that formula, E=mc2, you can almost cross out mass. So the formula ends up being "energy = the speeed of light."
NOOOOOOOOOO! You can’t just go crossing stuff out of E=mc2! Leaving aside for a moment the sticky detail that multiplying anything by ‘0’ gives you ‘0’, effectively giving you a ‘zero’ value for Energy (E) and thereby ruining her whole argument, the entire beauty of E=mc2 is that the value of mass can be very tiny, but when you multiply a very tiny value by something very big (like, say, the speed of light squared), you get an even bigger value! Gahhhh! See what I mean about that blood pressure? Or is it just me? I laughed out loud at the next part, though, where she says:
And that’s why the vision system is so important, because we have lots of photoreceptors that receive light.
But then I stopped laughing, when I realized that the only reason she’s bringing up photoreceptors at all in this talk is that she is apparently a Doctor of Optometry, and that her audience is comprised, at least in part, of other optometrists. Yikes. Be that as it may, information on vision care was not the main focus of this talk. Dr. Werner has a far more ambitious use for all this reconceived ‘physics’, as we will soon see:
Stephen [Hawking] gave us the string theory. And what he discovered is that there are other "energetic particles" in the universe, and they're shaped like little ‘U’ies, and what they do is they work by vibration. So our body is so wonderfully designed. We have light receivers, and we have ears. Vibratory--they pick up vibration. So if we added to that theory--Einstein's theory of relativity, E=mc2, but mass is crossed out--and strings, vibration. But that still doesn't tell us the whole picture, because what is a cell?
Wow, Einstein and Hawking? She’s really bringing the heat with these seminal and far reaching theories. We have E = (0)c2, strings, vibration and cells! Who could ask for anything more? Oh, but there is more. So much more:

You can break down the cells into tiny pieces of energy called electrons, protons, neutrons, right? So the whole body has an infinitesimal amount of mass, but what is the remainder? Energy. So, I am energy; you are energy.
Hmmm. The problem here is that, while technically the mass in your body could indeed be *converted* to energy, the experience would not be nearly as fun as Dr. Werner makes it sound. One can readily observe such a mass to energy conversion by throwing a few more logs on the fire, or reviewing film footage of nuclear bomb detonation (which by the way, is the kind of process Einstein really had in mind with E=mc2). But how, you might ask, is this in any way related to human health, or the promised explanation of homeopathy? An excellent question. Dr. Werner is approaching the zenith of her presentation:

OK, so what is homeopathy? If nothing is really mass or an infinitesimal amount of it, and everything is energy, that means everything has a vibration to it. So what if I could encase some sort of energy for later use? So if I wanted to make a bomb and I took all these chemicals and I encased it in a bomb, and tonight my neighbor let his dog poop in my yard literally, and I'm mad at that dog and my neighbor. I'm going to take this bomb and I'm going to get back at him. And I threw that bomb at his house, would he be happy about it? Because what happens now when that energy is released? It destroys something. It changes it, it changes its energetic state. Well, that's what we can do with homeopathy. We take substances. And we put them in solution and we succuss it just like a bomb, we threw the bomb, to release its energy into this liquid. And then we take these little white pellets. We sprinkle them with that solution, and guess what we have just made? An energetic substance to be used when we choose to use it. So, how homeopathy works is, whatever your disease process is, it's an energetic change. And if I can find the remedy that matches your state and give it to you when we so choose, what can we do with your energy system? Transform it to a previous better state. That's how it works.
and by ‘zenith’ I mean a dense, murky thicket of pseudoscientific babble that I cannot hope to penetrate. Aside from the frightening overreaction to canine indiscretions in her yard, I think what Dr Werner is trying to explain is that the theory of homeopathy posits that an infinitesimal amount of a substance, when diluted in a prescribed way, becomes powerful in the same way that the relatively small mass of bomb components become powerful when assembled and detonated. And therein lies the problem. Dr. Werner did not specifically discuss any principles of Chemistry during her talk, but I know she must have taken a few semesters of Chem courses at some point in her training. I wonder if she remembers Avogadro’s number? Avogadro’s number, 6.02 x 1023, is defined as the number of molecules (or atoms) of a particular substance required to equal, in grams, the atomic/molecular mass of each individual atom/molecule. For example, it would take 6.02 x 1023 atoms of Carbon (which has an atomic mass of 12) to equal 12 grams of Carbon. The converse is also true: If you separated 12 grams of Carbon into 6.02 x 1023 equal parts, each part would consist of one Carbon atom. However, although Avogadro’s number is a very large one, it is dwarfed by the dilutions used in most homeopathic preparations. At some point in the video (and honestly, I can’t bring myself to watch it again) Dr. Werner mentions a remedy of “30C”, which basically means that she diluted something with a starting concentration of 1 part ‘ingredient’ to 100 parts water (hence the Roman numeral C) thirty times. This would result in a final dilution of 10-60 and yes, that’s a decimal point in front of 60 zeros. I hope you can see that this is significantly more dilute than what would be required to reduce the original substance down to a single molecule, even if you started with a massive pile of 6.02 x 1023 molecules.

In other words, dilution to that extent would leave no trace of the original ingredient, whatever it was. Thus, even without addressing the relevance or efficacy of these remedies on any given disease, we can discount them, because they don’t actually contain even one molecule of anything but water.

Practitioners of homeopathy contend that the method of this reduction (which involves vigorous shaking, or ‘succussion’ between every dilution), gives their concoctions more potency; hence the ‘bomb your way to better health’ analogy. There are stories of early practitioners of homeopathy being warned against having their remedies jostle around as they traveled by horseback or wagon, as this extra shaking could inadvertently strengthen the solution to a dangerous degree. Again, absent any evidence of the reality of this increased potency, or a working definition of the ‘energy states’ that, Dr. Werner and other homeopaths claim, are altered by ingesting a homeopathic remedy, the whole practice falls far short of the minimum burden of proof for any conventional medical treatment.

The bottom line is that homeopathy, by any scientific measure, is bunk, yet it shows no signs of departing from the battery of ‘alternatives’ to science-based medicine available in most industrialized nations. The reasons for this are complex, but certainly one confounding factor is that people with legitimate medical training, such as Dr. Werner, fully accept such methods as real treatment and present it as such to their patients. Still others, while not alternative medicine practitioners themselves, remain neutral on the subject, often dismissing it as harmless or citing anecdotal success stories as evidence that there must be some grain of truth to the claims.

This concerns me, because, after all my discussions here about the rigors of science and the many complexities involved in studying a disease like Usher syndrome, it should be clear that no one can be an expert in every aspect of this field. At some point, we have to accept the validity of other people’s scientific or medical claims, or else we’d be mired in redundant experiments to confirm every other finding of every other scientist/clinician, which would be a tremendous waste of resources. Similarly, although patients today are certainly encouraged to be knowledgeable of and participate in their own treatments, we usually defer to the expert medical opinions of our physicians. After all, they’ve had twelve years and thousands of hours of training for the express purpose of learning everything possible about their particular branch of medicine. So, how does one strike a balance between appropriately deferring to legitimate expertise and avoiding being taken in by charlatans or well-meaning people operating outside their areas of expertise? How can we be sure that what we’re being told is valid, especially with respect to medical treatments? I’m genuinely interested to hear readers’ opinions on this, as I know that families dealing with a progressive disease with no available treatments are in a unique position to evaluate the balance of trust and skepticism needed to navigate the medical system.

This balance becomes particularly important when we consider that any future treatments for Usher syndrome will be ‘new’. Obviously they will have had to go through the succession of clinical trials required to gain approval as a treatment, but there won’t be millions of supportive data points right out of the gate. In lieu of these, we’ll have to look at the science behind the treatment and make a judgment call on whether it’s ‘good’ or ‘bad’. I realize that perhaps I had a bit too much fun tearing into Dr. Werner in this post, but I sincerely hope that the future discussions of what constitutes ‘good’ science will be helpful to our readers in making treatment decisions when the time comes—and I do believe this time will come.

Meanwhile, stay healthy, and I hope you had a wonderful holiday.

Wednesday, November 11, 2009

Your Fifteen Minutes, Part II

By Mark Dunning

My apologies for my absence the last few weeks. The family has been battling the swine flu. When I contacted Jennifer to let her know I’d be missing my deadline I found out her family, too, had the flu. So the bad news is we missed a couple of deadlines. The good news is we should be done with the flu for the season.

A few postings ago I asked that all Usher patients and their families spend fifteen minutes a day working on Usher related activities. This led to a flurry of e-mails asking how, exactly, I would suggest that people productively spend those fifteen minutes. In my last posting, I suggested writing your congressional representatives to ask them for specific Usher related NIH funding. Since my last posting, which I’m embarrassed to say was a month ago, you have no doubt already written every state representative and are looking for another project. Well here it is: Join the Usher Syndrome Family Network and maintain regular correspondence with at least four other Usher families.

First, some background. The Usher Syndrome Family Network is maintained by the Coalition for Usher Syndrome Research and the goal is to connect Usher families. Families can join on the Coalition for Usher Syndrome Research web site. Once joined, their e-mail information is shared with all the other families in the Usher Syndrome Family Network along with a brief description of their situation. The joining family does not know to whom their information has been given so the families in the network are under no pressure or obligation to contact the newly joining family. They can decide to or not. The newly joining family won’t know. Any family can leave the network at any time simply by sending an e-mail to the Coalition, though at this point no family has ever chosen to do so.

That’s it. After that it’s up to the families to develop and maintain relationships. Now why, you may ask, would an organization dedicated to promoting Usher syndrome research want to run a family network? Well, there are two purposes, actually, one altruistic and one practical.
First, the altruistic goal. As you know, Usher syndrome is a difficult diagnosis and it is very uncommon. Families often hear that there is no cure. They lack hope. They are usually desperate to talk to someone in a similar situation, someone who understands, someone who is still functioning, still living, still happy even though they have, or a family member has, Usher. In short, they need hope. But since Usher is so rare, it is unlikely they will find another Usher family in their town (unless they’re related). So where can newly diagnosed families go to find other Usher families? They can go to the Usher Syndrome Family Network.

This leads to the more practical reason for the Coalition maintaining the Family Network. Families without hope stop communicating. They don’t talk about Usher. They don’t want to think about Usher. They don’t want anyone to know they have Usher. They don’t visit the doctor because they don’t want to hear the inevitable bad news. In short, they are lost and this is a terrible thing for Usher research.

As I have written many times before, Usher families are critical to the success of Usher research. They are the source of research funding, whether it be from their pockets or from their lobbying efforts with funding organizations like NIH. They are the source of information about the progression of the disease. They are the potential subjects for clinical trials. And in their very existence may be the key to finding a cure. Usher families don’t just need hope. They ARE hope.

Yet I remember sitting in an Usher conference where researchers were discussing the frequency with which Usher occurs in the general population. New research was presented that showed the number of people in the US with Usher, which had been thought to be around 15,000, was actually more like 30,000 and might be closer to 50,000. I’ll never forget the response of Dr. Stephen Rose of the Foundation Fighting Blindness. He said “That’s very exciting but it raises the most obvious question: Where are they?”

Good question. The Foundation Fighting Blindness has a volunteer registry of around 800 people that consider themselves to have Usher. The University of Iowa has collected a registry of about 1900 people with Usher. Those are the two largest registries of which I am aware in the United States (The Usher Family Network is around 100 families). So Dr. Rose’s question remains. Where are all the Usher families?

Well, they are out there. In many cases they’ve been undiagnosed or misdiagnosed. But even those that have been diagnosed with Usher still fall off the radar. It’s a product of the diagnosis. They are told that there is no cure or there is no progress, so they stop paying attention.
That’s where you come in. Join the Usher Family Network and when you meet other families with Usher, stay in touch. Be the source of information for them. Keep them engaged so when they are needed to help with research or when we have a treatment that might help them, we know where they are.

Now let me dispel some common concerns. This is not a support network unless, of course, you want it to be. In other words, the Usher Family Network is what you make of it. You choose with whom you maintain contact. So if you want a group of friends to whom you can vent, those folks are out there. If you just want to share the latest research information you heard and you want to connect with a group of friends who will do the same, those folks are out there. It will probably be some trial and error. Usher affects all walks of life. You’re not going to hit it off with everyone you meet. The point is you decide with whom you stay in contact and what you want to discuss.

You are also not volunteering to be a guinea pig. Your contact information will not be shared with any researchers unless, of course, you want it to be. You can find just about any Usher researcher through the family network. Just ask. Someone knows them. But just because you join the network doesn’t mean you are volunteering for phase one clinical trials. It does mean, however, that you will probably hear about upcoming trials. You probably won’t if you don’t stay engaged.

So spend your fifteen minutes a day sending an e-mail to a friend that has Usher or a family member that has Usher. Share news you’ve heard or ask what they’ve heard or just talk about the weather so you know they are still reachable. Find a handful of Usher families to hold on to. If everyone does that, we won’t lose anybody.