Jim Cooper's Orange County; Retinitis Pigmentosa

Much has been written about the victories of medical science over such crippling diseases of the path as polio smallpox or diphtheria but not nearly enough yet public attention has been given to other diseases which have not yet been controlled by research and medicine. Not a figment of such a disease that causes progressive blindness at present there is no treatment and no cure. As many as 400000 people in the nation are now victims of this baffling hereditary disease. As many as 3 million are carriers of the RPV would pass along the disease to newborn children many people are fighting gallantly to find that here. I'm Jim Cooper and I'll pop with some of those people today. How do you tell young boys or girls that they have retinitis pigmentosa and that that eyesight will

gradually diminish and at some one long time they will experience total blindness. In some cases there's a special form of the disease or syndrome in which the victim is born deaf but also faces loss of eyesight. It's much easier to describe this disease than to discover its cure retinitis pigmentosa as a hereditary degenerative disease of the retina peripheral vision fades and patients see life through a tunnel of eyesight that gradually reduces to blindness. Now let's meet our guest Dr. Janet blanks whose Ph.D. to Grey's Anatomy is director of the electron microscopy Laboratory at the Doheny eye foundation affiliated with the USC School of Medicine. If you're one of the nation's scientists specializing in retinitis pigmentosa research. She previously worked in research at the jewel Sinai Institute the Max Planck Institute for Brain Research in West Germany and at Harvard Medical School. Daniel Marcus 56 has been a victim of retinitis pigmentosa since it was first diagnosed when he was a 12 year old boy. At first he couldn't see in the dark and then the disease has gradually reduced

the vision to only a portion of eyesight in his left eye. He worked as an electrical engineer for 34 years until 1982 when he was forced by the disease to leave his job. Mary Caspar is herself an R.P. patient as well as the Orange County director of international. She's the mother of four children four grandchildren and actively operates many volunteer activities on behalf of the Internet and on behalf of newly diagnosed R.P. clients. Her field of vision is only two degrees in both eyes compared to a normal one hundred and eighty degree field of vision. Well I'd like to talk first with Mary like to start with Mary because many people must ask you and you have to tell them in a simple way how do you view a life. Because the way you view life is the way are the patients in your life. How do you see things and what is this really like how do you explain that when people ask you that. I explain it very very. Simply. I see things through straws. I can't find things I lose

everything. I can put my pen down alongside of me and never find it because it's out of my field of vision. I cannot drive it very hard to get around. I am totally dependent on other people for rides and transportation. It was the most devastating thing that was ever told me I didn't believe my doctor. I didn't believe him for two years. I didn't get out of my car for two years. I drove when I had been told not to drive. I do not drive a tall anymore Jim. But you didn't want to accept what the doctor was telling you cried you know I would I'm going to get to the stage of denial. This is a normal thing to happen with patients. Yes I can understand why you don't want to know that you're going by damaging thing to be told and you don't want to accept that you don't want to accept them how would you describe your experiences with it. It was a little easier for me to accept it because I did so so many years ago when I was a youngster and I have it all my life it was unlike Mary's case where just

as an adult what age were you on the right when the when you began the person I was forty six forty six and you know if you're when you were 12 my parents diagnosed it because of course I didn't even know it. To me life was the fact that I could have it and I didn't it didn't matter to me because I didn't know I was supposed to see at night almost connected and if you're the same kind merrier How do you know minus the recess and recesses. So we have on this program too and we said well I guess recess is over so and in my case and I'd like yours a chromosomal I believe so because it's my nephew is the only one of the other the other part of the family who had came directly from my sisters and my sister was a carrier which meant that it was a females that are transmitting it. Janet in a language that any lay person might understand. I mean what is it that goes wrong with the retina that causes this to happen and other different types of the disease. But basically what is it that occurs that that causes a bit of I don't think

the final. Thing that happens is the photoreceptor cells which are the most important cell in the retina. Eventually degenerate. And the progression of degeneration varies from one case to the next. But finally all of the photoreceptor cells degenerate and then a person cannot see it flying. And I've heard of many kinds of therapy vitamin C therapy I've heard of vitamin A therapy and other kind of thing but is there any dramatic promise in that line of therapy at this point. Unfortunately there isn't a real promise for vitamin therapy at this point although there is a lot of investigation in the laboratory in feeding animals and rich diet in different vitamins and trying to come up with that nutritional therapy that may work but unfortunately so far we haven't had much luck. Of course I can think we might have been doing the same interview on the television set maybe 25 years ago and we might have been discussing polio when people were saying it's hopeless it's hopeless it's hopeless. But some people did not believe it was hopeless. And people like all of you.

Refused to believe it was hopeless and polio was a disease of the past like diphtheria like smallpox. Is that a valid expectation that we will see this disease become a disease of the past. Well we're all very hopeful of that and certainly as we focus more on this disease and then try and put more money into looking for ways to cure the disease or a way to ways to alleviate the disease and the hope is obviously better and better that we will eventually. And I'd like to be excusing that eventually it's going to happen of course. I'm not going to try and pin you down say what they are one of my network. Yeah. But the strides are being made in cancer research and maybe it will come in fragments like cancer research is coming rather than one dramatic breakthrough like the Salk vaccine occurred in the case of polio. Let me read this passage because I thought it was very touching and I'd like to have you pick up on this Mary. This is by Helen Harris who is our president.

And she writes this As an adult with our people perhaps I know how people can feel who have this disease when you're facing a new environment a darkened restaurant a movie theater that used to be so much fun. I know what it's like to be a non-driving mother to have to provide for marketing for banking for Little League and life everyday pleasures that most people take for granted my children now 18 and 20 have much of the same problems that all retinitis pigmentosa children face peer pressure night blindness and the threat of impending blindness. And mostly the loss of their greatest love. Very touching way that. This woman Helen Harris has referred to that but would you pick up on that. Well it meant Old Guard for children I get calls from parents on my hotline constantly. And they'll call me and say I've just had my child diagnosed. This child has written night is pigmentosa Now what do we do. And it's so devastating to that parent. To know that their child is going blind they're stumbling they can't find the

Kurds that night. Later on as a teenager they don't date because they can't see they can't go into restaurants they can't drive they can't go out on a normal date like all of the rest of us do. Yes and so that very very hard for children and teenagers especially. Then what do you tell people when you when you see other people who have been diagnosed as he and I know you're active in this when you want to cheer them up. We're going to give them some. Courage is that the right word going to them. I tell them to look at my you my background the fact that I was able to work over these many years with a positive indication the fact that I can have a meaningful home life with my wife and children with problems. There's frustration this hostility times of because of the outlet for the frustration. Walking in into the doorway of your own home isn't exactly pleasant because somebody left the door open. Or as Helen has said not being able to go to a movie or enjoy the movies my hobbies were collecting and photography which

is dating to someone who can see. What about your personal family. Personal family very supportive very supportive. Thank God they don't have the disease and my daughter. I have two daughters they have been checked and there's an 80 percent chance that they are not carriers so hopefully grandchildren will not have the disease. Testing is much better now isn't it. Testing is much more oh yes I can believe that they would be able to make such a prediction just on the basis of an examination. I'd like to be I'd like to talk a bit more about where we are with this disease right now but first I want to have our audience see what it's like to see the world as someone with RPN might see it and show how our people see the world we have selected a farm scene shown here. Any person with normal vision would see it. And now let's look at that same scene with the tunnel vision effect which most people with our experience. It's caused by a lone degeneration of the retina which results in a loss of its ability to transmit pictures to the brain. About

one person the Navy carries the recessive gene. Another way to illustrate the effect of this tunnel vision is to look at your television screen right now where you see four of us sitting on the set. I don't touch your television sets were deliberately causing you to see with tunnel vision. Right now you'll see that the corners are gone then the picture gradually venison with only a small circle of vision. Eventually your vision will diminish until it is all almost gone like this. You see the last image freedom away and that's exactly what is the prognosis. For people that are. Not a very happy dream but there are there are some bright spots. Work right. What do you want to talk about in this. Before live like to let people know that there is hope and that's what we are trying to give when people call me. I let them know that there is research going on like the research that Dr. Blank's is involved in or doing research it do in truth and I institute the Stanford Medical School and I think that they need to get together with

other people. We have meetings and we get together and we rap and we talk. And they need to know there are not a lot of mutual support for me. Yeah but it's a neutral support group where they say Gosh I'm glad to meet someone my age it's got this funny disease than most people can't pronounce it they can't spell it they never heard of it. You tell them you're legally blind from something you can't even say it. You are extraordinarily optimistic and you're an upbeat kind of person and I have great regard for you for doing that what gives you that inner strength to be such an upbeat person that maybe I inherited that along with my genes for R.P.. Well then you talked about the genes. Yeah I have I have some good things from my ancestors besides my R.P. and I want to say that every day I get up and I thank God that I can see today because my doctor told me I'd be totally and completely blind by now. We're going to give a number at the end of this program Mary and we're going to have people who want to get involved. The hotline number of people can get involved in many ways they can get involved first if they

need help with our feet if they want to be a volunteer they can call in and offer to volunteer if they want to give you some money they can call and give money or take out what money they can sound. Is there anything else that they can do because I want people to know on this program we're going to get that magic number at the end of the show. Yes what else would you say are in bad need of a donated office we'd like an office in the city of Fullerton or it wouldn't be too far for me to get there. Marvelous of any maid maybe someone with office space will hear that and be a big tax write off for a nonprofit helping Jennifer. Then what do you do it to stay upbeat. What do you what is your secret for staying upbeat yourself bro are basically optimistic person so that part of it comes natural. Right now well though I can work as an as an engineer I can support my wife who operates in an international type of travel educational travel company so I support her in that way and that keeps me busy during the day and coming back again.

On the positive side what are some of the areas where this promise I know there were five areas of great promise that are referred to in some technical paper that I've read but once you tell it for one of the. Best things that happen that Mary alluded to earlier is that there is much earlier detection now of RPN of carriers of RPN So one is able to get a better diagnosis even in young children now perhaps as early as five years of age where this person is a carrier or whether the person actually has written that is taking tests and. There are three types receptive and dominant apparently and sex link direct from a sawmill. Is there any one of those three that will lend itself to your before the others or are they all wanted to have a common you're well R.P. is the family of diseases and each each disease is a little bit different and the prognosis for each disease is the same unfortunately and that is the eventual loss of all of the photoreceptor Sattell from complete blindness. However we're hopeful that there may be some commonality and where a lot of

energy and money is being spent on looking at animal models of retinitis pigmentosa. There are a raft and you my which have genetic blindness and we can literally tell that in the animal at the animal kingdom the MRP also yes. So then you can study the success of it and even then we can study the generations in the animals and we can study the morphology the histo pathology the progression of the disease we can do testing on the animals to see how early we can pick up that the animal is the carrier of that the animal is going to be blind. I've seen something like 1.8 million dollars was spent in research and that is that really enough or is much much more needed. For that tip of the iceberg and they're working through all that part of what you're all doing in trying to raise money and decide where and making a public consciousness. More profound this year that I really wanted the two major points for public consciousness. People should be aware of it should know about it and the president to contact their doctor if they suspected. And the other part is money.

Resort money costs money as we all know and money is vital and a couple of million dollars like we're talking about from that is something like 43 grants there were two years ago. It's at the tip of the iceberg of what is really needed because what. What you do and you've written seven papers on this. You have locked yourself in a laboratory to study it. You part just the tip of the iceberg in how you have your own. How do you keep your own motivation in this. Well. Part of it is knowing that there are people like Mary Ann. Trying to do what we can so that these people eventually will really have some hope that the disease can be. Better understood and that we can diagnose it earlier and that eventually hopefully we will find that cure. Our way perhaps of retarding the photoreceptor degeneration. Anyone listening to the program right now might be motivated to actually like the help of people you are going to ask me to call a hotline there's one priority thing that you need most I know you've met in the office face in front of me but if there's any other priority thing you need most in a general way what would it be.

I'd like to start an auxillary and I need help. I wore men's auxiliary with so I help with the fund raising we do fund raising but we don't have people that can drive you have to go around research yes we could have gone with half blind people we need people that can see and are sighted and can drive and say hey I want to help you I want to help you find a peer. You want people who are going to get involved but because they care. Right. Whether they have are free or not yet. Carlton has been the Misses have been becoming rather they are they haven't when they're found that they don't get to do it because it's not me. So I'd like help us. We haven't mentioned Jim one thing that I think we ought to mention quick there's one form of. Retinitis Pigmentosa called Usher's syndrome where the child is born deaf and then slowly when they're usually about a teenager they lose their sight and become blind and deaf blindness the leading cause of death blindness in the whole world. What a dreadful thing and can you even comprehend that. No I can't and even the figures that in our research we were not able to come up with a hard figure. Someone say some people say that many of 400000 in the United States may be affected by this.

But something like 3 million may be carriers. Now it's true that those carriers. May live their whole life and never be affected in any with any of the symptoms. That's true. But give it to their offsprings. But may give it comfort to their offspring who may become victims. And then we also have sporadic cases which do not have as far as we know a genetic basis. That is due to this crap. But it is possible that that may remain a recessive gene in the definitely until the person joins with someone who also has an ending. And then you have a dominant and then you have a problem. Let's take a look at some of the other positive things about it. Although there is no cure for treatment of our patients there are devices to help them until medical science does find a way to prevent the disease. Take a look at this segment of a videotape taken from RPA International. Device and we are demonstrating here is the closed circuit television. The closed circuit television has its TV monitor. The TV camera

and is able to change the focus on the print. So that we can get an image where people are able to do their book work or their homework at a more comfortable distance. It also can have a reverse polarity that can cut out the glare from the background of the system. This is just one of many devices that we are able to use for the low vision patients. The use of the. Honeybee lens. Enables me to. Do certain things that I was not able to do normally. For instance I'm able to drive an automobile. I'm able to do lecture work looking at the blackboard. Able to get around more easily than I used to. If. I have to get no good out I'm. Good. We were.

There. And. Then for very plain surgery about them so that I can write. Just one glimpse of things that can be done. You talk to people who have been have gotten help from you how about you Dan you talk to some people. I tried out one of the prices about a year or two ago and my case because my my situation is so advanced. That it really didn't I would not productive. That's right. But you seem to be quite philosophically accepting of your condition. And one of the inner magic that lets you be so accepting. I think the fact that indicated earlier that it started when I was so young and I've lived with it all these years and I've been able to I think to live a

very useful life in spite of it. Jennifer I noticed one of the things we talk about the way that people can lunch or one of the most extraordinary ways that someone can loan tears to donate their eyes. People who are the victims. How was that valuable to get donor eyes that scientists like yourself can examine to look at the retinas and and study why are that valuable where there are very few cases in the literature in the scientific literature of the pathology the progression of the pathology and retinitis pigmentosa. And that is why we are very interested in getting donor eyes so that we can chart the progression of the disease in order to understand more about what is happening to the photoreceptors then does that mean they don't arise of. People with normal vision as well as donor eyes of people with our P.. It means both because in order to understand what is happening in the pathology of the photoreceptors Alan retinitis pigmentosa we need to know the the normal if you will. Aging A photo receptor and to study that we really

need donor eyes and normal people in addition to patients who are deceased with retinitis pigmentosa. Janet I see not just one discipline of science addressing in attacking this but many disciplines of science through a sort of a matrix approach. Can you define some of the other sciences that have to work with with us and that a myth. Other people who have to work. Well I'm presently collaborating with biochemists who are interested in trying to find out if there is a biochemical abnormality and in some of our animal models we have actually found a biochemical abnormality which we feel is the primary gene defect and we're trying to study and see if that is true. Would they be genetic within that also. Yes. We have geneticists biochemists physiologists to help us interpret the signals that are coming from photoreceptor cells in addition to psychologists who are trying to help our people and have given us some ideas about how to. Have to measure the

visual lost say in an animal. In various testing regime. And there's the intellectual cross-fertilization of the different disciplines so that advances in one the past together in this joint attack on the right. And one of the amazing and very nice things and very rewarding things about doing research in retinitis pigmentosa is that we've discovered a lot of things about unnormalized how a normal photo receptor cell works and. That much of the money that has come in through retinitis pigmentosa has allowed us to learn more about normal vision. Better still take the people who refused to give up the fight. People like you Mary and then and all the people and Helen Harrison the ones whom I've been privileged to come to know in a small way just in doing research on this. Without that spark without the dynamism of whatever you call it that that won't quit attitude and get up and go we have to whatever that or part in a fight whatever name you give to it without that then you wouldn't have them. There would be the continual threat no moral support for scientists as well as financial

support to get the grants another way have to come from mostly private grants. Like different universities and how do you get informed if there is another person who might be doing comparable work to you at say the University of Boston who discover something in that laboratory or at Harvard or in West Germany. How do you get that cross-fertilization of information. Well there are some special symposium that are held every year every year that are entirely on retinitis pigmentosa which bring together researchers from all over the world and where the main topic is retinitis pigmentosa what is causing it and how we link here at the computer to the computer play a big role in this to get computerized information well that you can access and yet what paper is there and our. Catalogues of our people. And. So that one is able to keep in touch with prospective R.P. donors in addition to the ways the. Plotting the prevention of the disease and you know many many thousands of people

you know I might just make an observation then that I met your your wife who is very supportive I could tell that in just the short time I did she set me up with how big a role it is that that support system for those who are there. Oh it's fantastic as Mary indicated before you are very much dependent on someone to a simple thing as you saw earlier today going to the bathroom finding the bathroom and stared her down the errors are. Making sure that there are no obstacles in the way in the path in the home making sure that when you go out to purchase a glass with just a simple glass. That it has enough contrast that is in that class so that you wouldn't when you put it down on the sink you can tell the difference between the sink in the glass and the topper for a man to have that is even a woman. You have any reply from them that I think. From the economic point

of women and I think it's much. Ma'am because it's normal for a woman to stand with a man. I have to give this number we're just about out of time and I do want to get a promise to give it to our viewers. That number is 7 1 4 5 2 9 4 7 3 9 0. Give that number again and you can give anything you'd like to. Or hear after that number 7 1 4 5 4 7 3 9. Write it down and get involved. But I want to thank all of our time is almost up. And I want to thank our special guests and wish them every success in their fight against retinitis pigmentosa. At the same time when I look at the Olympic preparations in Orange County. I'm Jim Cooper. Thanks for being with us.