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More Gas for the Fire

June 3, 2010

by Mark Dunning

Editor's note: This is a planned public debate between Mark Dunning and Jennifer Phillips, the two primary contributors to this blog. The ideas expressed in the posts during this debate will be purposely provocative and unfinished to invite a response from the other party. We hope you find the discussion valuable.

"You Can't Handle the Truth!" - Jack Nicholson as Colonel Nathan Jessup in 'A Few Good Men'

Sorry I'm late in responding to Jennifer, but I was over in Spain at the Usher Syndrome and Related Diseases symposium. You know what? Jennifer was right. The researchers DO talk to each other. They use big words and often seem to be speaking a different language, but they do actually talk to each other. More than that, they seemed really excited to share information. In fact, there were a number of presentations that thanked our dear Dr. Phillips for her assistance. But here is where the aforementioned dear Dr. Phillips misunderstood my original post. I merely said that researchers give the impression that they don't talk to each other. So why do families with Usher syndrome have this impression?

The Researchers Are Too Distant From Their Real Purpose

I was one of only two parents at the conference. The other was a researcher. He was there in a professional capacity because, and this could be a whole posting on its own, he happened to be working in the field when his daughter was diagnosed with Usher. There were a couple of adults with Usher there as well, but again they were both professionals working in deaf blind programs in their home countries. So few families actually saw what was going on or heard any of the presentations.

The information was also brutally technical and scientific (protein structures, Jennifer?). This was exacerbated by the fact that many of the researchers used English as a second language. (A quick side note: It was truly amazing to hear these folks talk coherently about extremely technical topics in their second language when I had a hard time ordering dinner in Spanish. There are smart people working on Usher syndrome.) Further there were no interpreters or CART present at the event, so anyone with hearing loss would have had a hard time even accessing the dense information being presented.

None of this is meant as a criticism of the organizers of the event, who were fantastic, but rather to point out that families with Usher syndrome often felt very distant from the discussions. The researchers were very enthusiastic about their mice and their protein chains and their alleles, but very few seemed outwardly cognizant of the fact that those were a means to an end and that we, the families with Usher syndrome, were that end. To the everlasting credit of the organizers, they did an excellent job of including sociologists, behavioral studies, and social workers among the presenters to try to tether the scientists to the patients, but the researchers often got the same glassy look in their eyes when social data was discussed that I got when any study Jennifer was involved in came up (Sorry Jennifer. I really did try.)

Let me pause here for a moment to make clear it is NOT that the researchers don't care about families. They were all appropriately appalled by the social data, especially the suicide rate (frighteningly high). Indeed, when my daughter showed up at one coffee break, they were all thrilled to see her, many commenting on how important it was that they be reminded she and others like her are the reason that the function of the whirlin protein matters at all. But I got the sense that a child with Usher was a rarity in their lives when, in truth, they probably should all have a picture of a patient with Usher taped above their door. In the end, the families are all that matter. Even if you were an empty hearted researcher you would have to recognize that without Usher families, you don't have a job. No one cares about developing an Usher syndrome animal model if no one has Usher syndrome.

The Researchers Aren't the Only Ones That Need the Information Presented

I agree with Jennifer that the media doesn't do a good job with science content, but I'm not asking that the conference be broadcast on C-SPAN. I only want some thought given to how to communicate the news of the conference to families. This is not a criticism of this conference (again, our hosts were wonderful) but of these scientific conferences in general. I know you can go to the ARVO web site and find abstracts on the conference and I know that if you were to contact the organizers of the conference in Spain that they would happily share the information with you. All of that assumes, of course, that you knew these conferences were happening. But how would the average family know that?

The point is that not only does there need to be some way to dumb down this information and pass it on to families, that should be one of the priorities.

Information is NOT Freely Shared by Everyone

And that leaves me flummoxed most of the time, downright angry at others. Let's start with flummoxed. I was at the conference in Spain and heard the talks. The abstracts are printed in the book I took home. I want to communicate out the contents of the presentations I saw to other families. But I'm nervous because I don't know what the researchers consider privileged information and what they don't. In other words, even though I heard it and know it could help families, I might upset some folks if I share it. That frustrates families. It is research for us. Heck, it's often research about us and yet we're not allowed to know it? How can that be?

One doctor presented a database of genetic information that she had created. The idea was to share genetic discoveries about Usher syndrome with the wider researcher community. Awesome idea. But researchers could enter their findings and mark it private if they so chose. The doctor strongly urged people not to do this, but the fact that she felt it was necessary to include such a feature to get other researchers to use the database speaks volumes about the mindset of many. It is their discovery, their research, and the rest of the research community and the families themselves are not welcome to it.

That makes me angry. Not only could they possibly be withholding information that could help my family but they may very well be stunting the research done by others in the process, further slowing the overall search for a cure.

We CAN Handle The Truth

I understand the concern around sharing certain information with families. I feel it now as I prepare to write about what I learned at the conference. I learned, for instance, that if you shoot a rat with retinitis pigmentosa full of so much TUDCA that the rat eventually dies from the dosage, that rat's vision does not deteriorate while the vision in similar rat's with RP does deteriorate. I am worried that parents will buy an oil drum full of TUDCA and hook it via IV to their infant. But does that mean that families shouldn't be told that TUDCA has protected the vision of rats with RP in monstrous doses. I mean, I'm a parent and I'm not going to be shooting up my daughter with the stuff.

I only felt compelled to speak up once during the meeting. That was when a debate opened up about the merits of withholding or delaying the delivery of a diagnosis to families found through the newborn hearing screen. The idea was to 'protect' them from the emotional trauma of an Usher diagnosis so soon after they receive a hearing loss diagnosis. My response was something along the lines of 'Parents are adults. Treat them like adults.'

The point here, to misquote Jack Nicholson, is we CAN handle the truth. Please, please, please don't protect me from information because you don't think I'm big enough to handle it. If a doctor or a researcher I respect tells me to please, whatever you do, don't stuff your kid full of TUDCA, I'm not going to do it (and please, whatever you do, don't stuff your kid full of TUDCA). However, if you want my respect, you'll tell me all you know and trust that I can handle it.

The Big Problem

More than once I talked to doctors who lamented the fact that desperate patients had ignored their advice and gone to Cuba or China to have some cockamamie treatment 'guaranteed' to save theirs or their child's vision. They were understandably appalled by this and I could see that it drove their fear of mentioning any untested treatment (like TUDCA) to any family. They don't want desperate, frightened families to do something rash. They are right. We don't want that to happen.

But when doctors and researchers always stress what we don't know while not openly sharing what we do, it opens the door for these scam artists to step in. What doctors fail to realize is that they contribute to the problem when they withhold information from families. It makes them seem ill informed. (You mean you hadn't heard that TUDCA helped rats see better?) It also understates what we do know and exaggerates the possibility that Jennifer's hated 'pseudo-science' could hold merit. I mean, they laughed at Columbus when he said the world was round, didn't they? That, in turn, makes families wonder if maybe, just maybe, those doctors in Cuba know a little bit more or the doctors in China are a little more open to sharing information.

This is about trust, and trust starts with the open sharing of information. Tell me what you know in a format I can understand. I can handle the truth.

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