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Thursday, April 29, 2010

The Fact About Facts

by Mark Dunning

Editor’s note: This is the first salvo in 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.

“Facts all come with points of view
Facts don't do what I want them to”
- Talking Heads, Crosseyed and Painless lyric

I know Jennifer will nod vigorously as she reads this, but I have a problem with facts. OK, that’s not entirely true. While I’ve never met a footnote I like, I actually prefer facts to the alternative. My problem with facts is that, as the Talking Heads sang, facts don’t do what I want them to. More specifically, facts don’t give hope. At least that is true when the fact is that there is no cure for your loved one.

Many doctors and researchers don’t do what I want them to do, either, which is give hope even if it is not fact. Now let me make clear that I’m not advocating false hope. I’m simply saying that just because something is not fact should not exclude it from the doctor/patient or researcher/affected person discussion. All too often, however, I find that doctors and researchers are like Dragnet. They just want the facts. But for Usher syndrome families, the facts are grim:

1) The fact is that there are no proven treatments for Usher syndrome. There are some regularly prescribed treatments such as vitamin A, DHA, and sunglasses, but there are no definitive studies proving their effectiveness in treating individuals with Usher syndrome.

2) It is also fact that while there are a number of potential treatments in development, none of those treatments have been used to successfully treat Usher syndrome. Not even in testing or clinical trials.

3) The fact is that we don’t even have a good animal model for the vision phenotype in Usher syndrome. So those potential treatments under development have not been proven to treat Usher syndrome successfully even in an animal.

4) The fact is that these treatments under development are, depending on the treatment, 5-10 years away from helping you or your loved one, but we don’t know for sure when, or if, they will ever arrive.

5) The fact is that we don’t know enough about the vision loss associated with Usher syndrome to know for certain the rate of deterioration that any individual faces. In short, we don’t know when, or even if, you or your loved one will lose their vision.

So when a doctor communicates to a family using just the facts, it can lead to conversations like this:

Family: OK, I (or my loved one) have/has Usher syndrome. Is there a cure?
Doctor: The fact is, no there is no cure.
Family: Are there any treatments?
Doctor: The fact is, there are no proven treatments.
Family: Will there be any treatments soon?
Doctor: I don’t know. There are treatments being developed but none have been proven to help even a lab animal with Usher syndrome. There may be something in the future, but I don’t know when.
Family: Well, how long do we have before I (or my loved one) lose vision.
Doctor: I don’t know.
Family: Well, is it five years? Ten years? Fifty years?
Doctor: It could be any of those. I don’t know.

I know that little dialogue made Jennifer’s blood boil, but the fact is, that is exactly the conversation a lot of families have with their physician. Look, doctors are generally good, kind people who want to help others. It is their zeal to do no harm that leads them to stick solely to the facts. If it can’t be proven, it can’t be trusted to be safe. I get that. My point here is not to make doctors appear inhuman or unkind because I have found them to be quite the opposite. The point here is that they appear inhuman and unkind when they stick solely to the facts.

I have found researchers to fall in to a similar trap. Researchers are loathe to discuss any research that is currently underway because until the results are not only in but have been peer reviewed, they can not be trusted to be fact. Understandable. This is especially true when discussing research done by someone else because, obviously, if you’re not doing the research and the results have yet to be published, you can’t possibly know the results.

Here’s the problem. Many researchers take this secrecy to the point that they won’t even discuss what they or others are working on. This secrecy leads families to one of two conclusions. Either 1) nothing is being researched or 2) by withholding information, the researchers are more concerned about their projects, their funding, and their legacies than they are about the families that could benefit from the research.

When you are dealing with a currently incurable disease, the only thing that keeps you going is hope. You live on the hope that there will be treatments in the future, that there will be a cure in the future, and that, ultimately, there will be happiness in the future. This dedication to fact builds a world where distraught families can not find out about current treatments or treatments under development from either their physician or from the very people doing the research. In other words, the doctors and researchers dedicated to improving the lives of these families in the long run, are doing exactly the opposite in the short run by sticking strictly to the facts.

Worst of all, when families figure out that they are not getting the full picture, they feel betrayed. This leads to families distrusting the ‘experts’ with whom they have spoken who either failed to mention certain treatments, whether they be underdevelopment, proven or not, or simply didn’t know them. Either way, already vulnerable, emotional families get lost. After all, if you can’t trust the experts in the subject matter to be, you know, experts, where do you turn? Talk about feeling hopeless.

OK, I’ll stop ranting for a moment. As you probably suspect, I have a lot more to say on this matter, but I need to give Jennifer time to respond. Just so we’re all clear on the sides we’re taking. I support hope. Jennifer does not. Just kidding. You’re turn, Jennifer.

Oh, and please note that no footnotes or references were harmed in the writing of this post.

Tuesday, April 13, 2010

The Experiences of Diane Gutierrez

by Diane Gutierrez

Editor's Note:  This is the first  of several posts featuring guest writers. All have Usher syndrome. They are of various ages and their vision loss is progressing at differing rates. We’ve asked them to tell their stories as a demonstration of the variability of their symptoms and to give a sense of how these symptoms impact their lives.

Ushers Syndrome has several types and each may have degrees of effect; for example, I was born profoundly deaf and at age 29 learned that I had the very early stages of retinitis pigmentosa. A Dupont Circle ophthalmologist handed me a shocker after my eye exam: "You need glasses and you have retinitis pigmentosa" The glasses were nothing new as my graduate classes at Gallaudet had been a bit fuzzy, but RP? At that time the ophthalmologist said that I could expect to keep central reading vision until well into old age. It was a few years later that I learned that the doctor knew since I was age 11!

Usher’s types were not published then. Neither were genetic tests offered. My family history was negative for both RP and deafness.

At first, my reaction was complete dismay. Despite the doctor telling me I could continue reading till old age, thoughts of a lifetime of blindness haunted my every thought for a while. All I knew then were blind college classmates being led about by friends and communicating with them by hands on hands.

Also, I kept the diagnosis from everyone else, not wanting to be stigmatized or pitied, but told my professor at the graduate school. He put me in touch with National Eye Institute at NIH and the diagnosis was confirmed there. For many months I continued as usual, determined to complete studies and work as long as possible while looking for alternatives for just in case. The months became years, and the diagnosis faded into the background. Without noticeable deterioration in my vision, I soon disregarded it.

Now that I am 63, after living more than 30 years after diagnosis, I need not have worried about its effect on my life. Today I still have good night vision, good side vision, and only have wedges of no vision high up in the visual field. Recently I passed an eye examination and still drive my car even at night. This is with full awareness that there could be a time in the future that my vision will not allow this, and so I am constantly checking to see if I can read street name signs at night, see into dark doorways and walk through dark movie theaters.

What has surprised me most about my diagnosis is how easy it has been to live with the knowledge that vision could deteriorate in my life. I had seen my father lose his vision to glaucoma and diabetes and knew this was possible for me, too. On the side, I learned about visual aids and tools, kept in touch with deaf-blind professionals, and read Ushers Syndrome research. Yet with my vision remaining stable, there was actually no need to implement anything. I still test myself to see how far my vision extends to the side.

Young people need to be told as early as possible and to share that they may have "tunnel vision" so that their friends do not get the impression they are being ignored and cause unnecessary problems. Soon after this becomes used to, more ideas can be introduced, such as "need more light to enter dark rooms" and "driving tests are very strict" "not everyone can or needs to drive" and "bus passes are cheaper and more convenient than owning a car".

The same advice for teenagers starting out in life applies to teens with Ushers: get as much education as possible; train for more than one occupation, learn skills that are applicable over a wide variety of fields, and include great flexibility and problem solving in one's repertoire for life.

In a time when technology is rapidly advancing and medical research not far behind, it is not necessary to plan for a life of worst case scenarios. Just plan for every scenario, both visual and non visual.

If there is advice to be given…There is no way to predict how much vision will be lost, or how much one can achieve in life. I've heard of doctors telling parents that their child would never progress beyond fourth grade reading level or be able to go to college, perhaps to support cochlear implantation. Such doctors deserve to be permanently confined to the back rooms of blood testing labs for implying CI’s will prevent these problems.

Each situation is individual and highly variable due to many still unknown factors. I have met people like myself, only minimally affected and doing fine with the large amount of vision remaining, and at the other end of the spectrum nearly blind middle-aged Deaf people who nevertheless have employment. Several of them are professionals in the field of deaf-blindness and work with other deaf-blind people. In the middle are people in a variety of situations, such as two active Deaf bloggers who are students and working housewives with children and write about special setups in their homes to circumvent their limited vision.

Go with your dreams and modify, not eliminate, that which you love. Train for as many fields as you have talents. It's the same advice I'd give to any young person--it is good to have more than one career in these fluctuating times. For parents: there are aids available today to give the maximum input, including cochlear implants. Use them, but do not fall for the popular belief that it is all that is needed, or that sign language is to be eliminated in favor of "training the brain to hear". Sign language is extremely important and needs to be developed as an efficient way to input language and knowledge alongside the hearing aids/implants. If profound visual impairment is in the cards, sign language may be the most efficient way to maintain communication as it is easily felt by touch. The Tadoma method, feeling on the face as Helen Keller did, is a difficult way to communicate and is in less use than the tactile method of feeling sign and fingerspelling.

Most of my deaf-blind friends use the hands-on sign language, especially the professionals. Some who still have islands of vision prefer to position themselves so they can see sign language. I have read the blogs of young people with Ushers and profound deafness who have not learned sign, and who get by on the input from their cochlear implants. I applaud these people in being fortunate enough to have usable hearing in this way and hope that their hearing remains stable, also their vision. However, we all never know so it pays to have all possible input and all possible communication skills developed early.

With the current research into Usher's, retinitis pigmentosa and deafness, there is a lot of reason to hope in the near future. Meanwhile, don't wait for it. Prepare to enjoy all of life, to learn a lot, and to be employed in many areas.

Diane is a writer and lecturer in Deaf Culture topics and blogs occasionally as Dianrez. She has a B.A. degree in Psychology from the University of Rochester, an M.A. in Counseling from Gallaudet University, and an A.A.S. in Electronic Publishing and Graphics from Rochester Institute of Technology. She taught and counseled for nearly twenty years working with high school, college preparatory, disadvantaged and foreign-born Deaf populations in USA and Canada.

Eventually she entered publishing after part-time work with the Silent News and is now soon to be retired. Her great interest is in the future of Deaf community and its various peoples; in ASL, and documentation of human stories from the Deaf community for the future. She was born Deaf of hearing parents and is mother to two CODA daughters and a Deaf son.

Monday, April 12, 2010

Introduction of Some Special Guests

by Mark Dunning

After writing in parallel for a while about either the science or the personal impact of Usher syndrome, Jennifer and I find ourselves at the interface of these two points of view. Behind the scenes we have been holding a spirited and good-natured debate about communicating Usher syndrome information to patients, the boundaries between hope and false hope, and between science and pseudoscience. These debates have encouraged us to bring this discussion to the Usher community at large—at least those community members who read this blog, anyway—as we discuss disease diagnosis, progression, and management in both the medical and the personal sense of the word.

We’ll begin the discussion through several posts featuring guest writers. All have Usher syndrome. They are of various ages and their vision loss is progressing at differing rates. We’ve asked them to tell their stories as a demonstration of the variability of their symptoms and to give a sense of how these symptoms impact their lives. Jennifer and I will then recapitulate some of our recent discussions about the ways in which this variability is—or could be—presented to newly diagnosed families and how that might affect patient and family education in a broader sense.

We hope you find the experiences of our guests illuminating and find the debate helpful. Please feel free to comment. We’d love the feedback.