University of Iowa laboratory - photo courtesy of the University of Iowa
by Andrew DeCanniere
Last week, I had the opportunity to speak with Mark Dunning, Chairman of the Usher Syndrome Coalition, an amazing organization dedicated to connecting with and providing support and information to those who have been diagnosed with Usher syndrome and their families, as well as supporting research crucial to finding potential treatments and cures for the condition. Read on to see what Mark had to say, and to learn more about Usher syndrome and the incredible work that everyone involved with the organization does on a daily basis, including its history, research and clinical trials, the Usher Syndrome Registry, how to get involved with the organization and much more.
UR Chicago Magazine: How and when did the Usher Syndrome Coalition get its start?
Mark Dunning: The Usher Syndrome Coalition has been around since 2008. My daughter, Bella, has Usher syndrome. When she was first diagnosed nine years ago, we were told a number of different things. First, that our daughter is deaf, that she is going to go blind, that there are no treatments for it, and that it is such a rare disease that we’d probably never meet anybody who has it. As you can imagine, that’s not exactly what you want to hear. It was a very lonely situation to be in. We kind of took it upon ourselves to try and find people with Usher syndrome, and to find doctors who were working on it, just to give ourselves some hope.
As we started looking around, we found that there were a lot of great doctors who were interested in Usher syndrome, and that there actually are probably close to 50,000 people in the United States who have Usher syndrome. Even though they might not be around your corner, they are out there — and with today’s technology, there are ways to connect with those families. We started the Usher Syndrome Coalition to try and get the researchers to communicate with each another, and then also to be able to take the information we get from the researchers and pass it on to families and give them some hope, to hopefully keep them engaged in the community and develop a large Usher syndrome community, so that none of us ever has to feel alone ever again.
UR: Which is obviously so important. It sounds like it was extremely difficult to connect with others initially, and just really hard to get much information.
MD: Yeah. It was next to impossible to get any kind of information. When you did any searches on the internet, you got very clinical information, or you got really scary, sad information about people who were at the end stages of the disease, who were lonely and terrified. When that’s the only kind of information you can find, it’s not exactly heartening when you’re thinking about your eight-year-old daughter.
UR: And I think that’s something that people may not immediately realize — that there can be this psychological or emotional impact, especially if you cannot connect with others who have the disease.
MD: Right. It’s a very socially isolating disease, because people with Usher syndrome have a hard time getting around. Obviously, they don’t see very well in dark situations. They have a hard time hearing in noisy situations. So, they tend to become more and more socially isolated, and as you become more socially isolated, obviously that leads to depression and other issues, which make you less likely to go out. While we were told we’d never meet anybody, a lot of the reason we didn’t meet people is because a lot of them were either in denial over the diagnosis and didn’t really want to meet anybody with Usher syndrome, because they were afraid of what the outcome might be for their child, or they were older adults who had given up and didn’t think there was going to be any hope that they would have treatments. Neither of those things is actually true. There are a lot of very interesting people with Usher syndrome, and people who have children with Usher syndrome. Many of them are very incredibly interesting people to know and are inspiring. And then, on the adult side of things, we’re going to have treatments. They are coming, so it would be a shame for them to give up hope and believe it’s never going to happen, because it is going to happen.
UR: That’s why it’s so great that you now have this sort of network that you’ve created over the years, and why I think it’s so great that people like Rebecca [Alexander] are out there. It’s actually through Rebecca that I found your organization.
MD: Yeah. Rebecca’s a perfect example. I mean, you’ve read her book and you saw that she climbed Mount Kilimanjaro. I mean, she’s always up to something and the disease does not really slow her down. She lives a fascinating life. She’s about as interesting a person as you’ll ever meet in your life, and she just happens to have Usher syndrome. She’s a great role model for the Usher syndrome community as a whole.
UR: Yeah. She was just here, in the Chicago area, this spring, and her story really counters that sort of bleak, arguably inaccurate, picture painted by the information that was out there on the internet.
MD: Right. The information on the internet was really just inaccurate, but we’ve tried to change that. When people learn about Usher syndrome, they come to the Usher Syndrome Coalition and leave with a feeling of hope — because there is a lot of hope out there. Not only do they leave with hope about the state of Usher syndrome research, but they also know that they’re not alone. We have families from over 46 different countries that we’re in touch with. We have hundreds of families in our family network. We can connect families from all around the globe. So, people are not alone any longer.
UR: For those who don’t know, what is Usher syndrome and what causes it?
MD: Usher syndrome is the most common cause of combined deafness and blindness. It’s a genetic disorder. It’s caused by mutations in at least nine different genes — so there are different types of Usher syndrome that are caused by different genetic mutations — but they all have the same impact. People with Usher syndrome have hearing loss and eventually lose their vision to Retinitis Pigmentosa. Retinitis Pigmentosa is a narrowing of the vision. So, it’s tunnel vision. People lose their vision on the periphery first, and eventually it becomes narrower and narrower and eventually they feel like they’re looking at the world through a pinhole. It is not uncommon for people to retain usable central vision into their fifties, but it is usually that sort of pinhole vision. Once people get into their fifties, they often lose the clarity in that central vision, and then they’ll only be able to see light and dark and not be able to read. They would essentially be functionally blind and deaf at that point. Many people with Usher syndrome are able to drive a car as a teenager. Most of them eventually give it up in their early twenties, as their vision deteriorates.
If you were to meet Bella, she has Cochlear implants, so she uses spoken language and can hear language. Her vision is narrowed, but it’s not to the point of being a pinprick of vision, so you probably wouldn’t know there are any issues with her. However, as soon as the lights go out, she has extreme difficulties in dark conditions. That’s really where people start to notice Usher syndrome first — they lose their night vision first. That’s not uncommon for young kids. That’s often how doctors are able to put the two together. Families complain that the kid is having trouble seeing at night, and they have hearing loss. Then that is sort of a trigger for us to look at Usher syndrome as the possible cause. There also are certain types of Usher syndrome — certain genetic causes. In Type I in particular, people also have vestibular problems, so they have balance issues. Bella has extreme balance issues. If you watch her walk, she kind of weaves from side to side. She can’t walk a balance beam. Those vestibular issues exacerbate as people get older, because vision is part of what helps you to balance. You have your vestibular function, your musculature and your vision. When you don’t have vestibular function and then slowly lose your vision, your balance gets worse over time.
UR: What types of programs or services does the Usher Syndrome Coalition provide?
MD: Well, we provide a number of different services. We support research, but the way in which we support research takes a little bit of an explanation. The research is at a point now where it’s ready to go to clinical trial. Many of the treatments are reaching a point where they’re ready to go to clinical trials. To have clinical trials, you need candidates. To find candidates for clinical trials, you need a large pool of people, because different phases of clinical trials require people to meet certain criteria. For instance, you need to be a certain age, you need to have a certain amount of vision, you need to be within a certain distance of the trial center. If you have a small pool of people, you can very quickly eliminate the majority of people and have too few people to be able to do clinical trials. The Usher syndrome research community believes that the greatest threat to us being able to deliver treatments to families is that we don’t have enough candidates for clinical trials. What we’re trying to do at the Usher Syndrome Coalition is to identify everybody in the world who has Usher syndrome and get them into our registry, so that they can be contacted as potential clinical trial candidates. That does not mean that they have to be in a clinical trial. It simply means that they will be contacted and they will know about it. If they’re interested and they’re a potential candidate, then they can do it. Part of the problem that we have with Usher syndrome — as I mentioned earlier — is that there’s such a strong psychosocial component to having Usher syndrome that it’s very easy to lose touch with families and to not be able to communicate with them.
They get very depressed by the diagnosis. They’d rather not know what’s happening to them — especially if they’ve been told that there are no treatments coming. They say ‘Why should I bother going to the doctor when the news is only going to be bad news, and the result is going to be the same in the end anyway?’ Part of our responsibility as the Usher Syndrome Coalition is to provide support and hope to those families and to maintain constant communication with them, so that they are more willing to be involved in research and have their information in our registry, and to be involved in clinical trials as they come forward. What we’ve really been trying to do is build a community and make people feel like they are a part of something larger and that they have support throughout this expanding community and know that they are not alone, with the hope that this draws them out from the despair that they face, and encourages them to be involved in the research that we are supporting. So, we do a lot of educational things. We run symposiums for researchers and families, where they can discuss the latest research, encourage collaboration between the researchers. One of the other key elements of what is necessary for a lot of the upcoming treatments is that they are genetically specific. For instance, there’s a gene therapy trial going on for Usher syndrome type 1B, but you have to have that particular genetic cause for the gene therapy to work for you. Therefore, we’re trying to get everyone in the world with Usher syndrome genotyped as well. They have a blood test and we get them genetically tested, so that we know the specific genetic cause, so that we can help direct them to the right research that’s going on, and eventually to the right treatment that will work for them. We’re working on developing a pilot program to genetically test everybody with Usher syndrome. The first step in all of that is drawing them out, getting them to be a part of this community, so that we can be in touch with them. Then we can take these next steps.
UR: I guess you sort of touched on this, but I was also going to ask what research has been done or what future plans for the organization and research there may be.
MD: Yeah. I mean, there is some fantastic research that is going on, and we work very closely with all of the major research centers. We’re sort of the conduit to the families for the researchers, and there are a number of different things that are close to clinical trial. Out in Oregon, at Oregon Health and Science University, they are doing a clinical trial on Usher 1B for gene therapy. What’s happening with people with Usher syndrome is that they have a genetic mutation. Your genes are used as instructions on how to create proteins, and those proteins have functions within your eyes and ears. The mutation in the gene means that you body is not creating the right instructions to create proteins properly. When you have the wrong protein, your eyes function incorrectly. If you have the wrong gene creating the wrong protein, the proteins within your cells don’t operate correctly and your cells die. Eventually, you lose your vision because of it. What gene therapy does is it takes a good copy of the gene — a copy without the mutation — which can then be read by the gene, so that it can produce the proteins properly. It has shown great success in animals models, particularly in dogs, and there’s great hope that this will help in human beings. It won’t restore vision, but it will stop the vision loss. The cells will hopefully no longer die with gene therapy.
There are also stem cell treatments that are coming. These are induced pluripotent stem cells. That’s an important distinction from the natal cells that were used previously that were such a controversy. With induced pluripotent stem cells, they take a biopsy of your skin — basically, they take a few of your skin cells — and they put them in a petri dish and run some chemicals on them. Once they’re stem cells, they can be turned into any type of cell. You can turn them into retinal cells, and because they are your genes and it’s your skin, the cells are much less likely to be rejected by your eyes. The idea behind that is that if your retinal cells have died, you can replace them with the stem cells. They’ve been able to successfully do this in a number of different animal models, but they are also attempting to do it with other retinal diseases right now. There are a number of groups that are working on it for Usher syndrome, which would then allow us to be able to replace cells that have died and potentially then restore vision in people. Then there are also retinal implants that have been approved by the FDA. They’re fairly crude right now, so they’ll let you be able to distinguish the difference between light and dark, and maybe read the top letter on an eye chart, but not much more than that. They’re really intended for people who have zero vision at this point, but they are improving every year, and the hope is that at some point they will be high definition enough that you could use them as a replacement for vision.
UR: It sort of sounds like those stories you hear in which they discuss the potential to use your own body to create organs.
MD: Yeah. It’s exactly like that and it’s incredibly exciting. There’s a group at the University of Iowa that has actually created a human retina in a petri dish through stem cells. I mean, the technology is there right now, and they’re working on the best delivery methods for those things, but we’re not far away from being able to do stem cells in the human eye. It’s just a matter of working out the details of how to deliver it.
UR: It seems like things have come a pretty long way from not too long ago, relatively speaking.
MD: I mean, nine years ago, when Bella was diagnosed and I first got involved in this stuff, there wasn’t really much hope for treatments. They didn’t feel like they were coming anytime soon, and now they’re actually here. We’re in clinical trials with gene therapy, and the stem cell stuff is not far away. I have gone from hoping that some day my daughter would be able to have her vision restored to believing that we can probably stop her vision loss and that she’ll never have to lose her vision. I have no problem telling parents of infants who were just diagnosed with Usher syndrome that I do not believe their child is ever going to lose their vision. The treatments are just too close. And now I’m actually starting to have hope that some of my older friends who have fully lost their vision — that we may be able to restore their vision before it’s too late for them. I really have a dream that some of my friends who are blind and have never actually seen me will actually see me some day. I think that’s a real possibility. If you’d asked me that even five years ago, I would’ve said that’s not going to happen, but now I’m starting to believe it may.
UR: At that rate, it’s not too hard to think that in another five or ten years, things could easily be exponentially further along.
MD: With Bella, at the age she’s at, it feels like we’re racing a train to a crossing. For younger kids, I see no reason why they’re not going to be fine in the long run. I know that for some of these older adults, it’s going to be pretty close depending on how quickly the stem cells come back around and how much we learn about it. I believe some of my friends who are in their late forties and early fifties, and who have just recently lost their vision, I think there’s real hope that before they’re in their sixties or seventies we’ll have something that will be able to restore their vision. I think they may see me.
UR: And, to me, that just reinforces the importance of continuing to fund that type of research, too.
UR: Are there opportunities for people to get involved with the Usher Syndrome Coalition? How can people support the organization?
MD: Well, there are a lot of different ways. First of all, we’re always looking for volunteers to help us out with contacting families and with helping to support families. We’re developing a roadmap for Usher syndrome research, so we’re looking for volunteers to help us with the coordination of that. We run regular events for families. With “Own the Equinox,” we’re trying to get families to come out and identify themselves and get involved. The more people that spread the word about Usher syndrome — the more people there are who let the world know that it exists and that there is hope for people diagnosed with it — the more that will draw people out, and hopefully they will get in touch with our organization. Then, of course, there’s always that need for funding. The more money we get, the more people we can reach, and the faster the research goes. If people want to donate, they can donate on our site as well.
UR: Aside from “Own the Equinox,” is there anything else coming up in the near future?
MD: Well, we’re doing this “Own the Equinox” campaign to raise awareness for Usher syndrome. It has a couple of different components to them. Congress recognized the third Saturday in September as Usher Syndrome Awareness Day. That’s the big day for us, but we’ve also been doing what we refer to as a “Mile-a-Thon.” We have a number of people running marathons on September 19th, but we also have a lot of families that are not able to run marathons and can’t get to Alaska or some of these places, so we set up what we call the “Mile-a-Thon.” We encourage families to at least walk, run or ride a bike for a mile a day, every day, for 25 straight days, leading up to September 19th, and then to run the last 1.2 miles on September 19th in solidarity with those of us who are running the marathons. This is important for a couple of reasons. First, it helps to raise awareness and get people out there. Because it can be an isolating disease, there are a lot of people with Usher syndrome who don’t get out. They tend to lead sedentary lifestyles, and that leads to other physical health ailments that they deal with, but it is also very important for their mental health. There are a lot of studies that have been done that show just a little bit of exercise a day can really improve your mental health. Given some of the challenges that people with Usher syndrome face — from depression to suicidal thoughts — that’s also very important to get them out and doing things.
So, the “Own the Equinox” campaign is not simply about raising awareness and raising funds. It’s also about getting our community to be healthy and feel better. That’s the big event that we have going on right now. Then, every year, there’s a family conference. Our next family conference is going to be in Seattle in July. We usually have a number of the leading researchers come and speak on that day, and we strongly encourage families to attend. It’s a great opportunity to network with both the researchers and to meet other families. We hear nothing but good things about our family conferences. It really means a lot to people who feel isolated to actually be able to be connected with other Usher syndrome families, and we strongly encourage them to bring their kids. It’s the one time that kids with Usher syndrome actually get to be the majority of kids in a group. My daughter and my son both love it. Even though he does not have Usher syndrome, he had made a lot of friends who do. That’s another big event that we run every year.
UR: I know that the Usher Syndrome Coalition is essentially the major source of information for people who are either diagnosed with Usher syndrome or have a family member who has been diagnosed with Usher syndrome, but do you have any other recommended resources or websites that you would suggest?
MD: The University of Iowa just opened the William Kimberling Usher Laboratory, which is the first research laboratory dedicated to Usher syndrome research. That’s a good resource for families to know about. Then, there’s the Helen Keller National Center, which provides support nationally for people with dual-sensory loss — people who are both deaf and blind — and they are another great resource for families. Both the University of Iowa and the Helen Keller National Center work very closely with us to support families with Usher syndrome.
Mark Dunning is the Chairman of the Usher Syndrome Coalition and the father of a daughter diagnosed with Usher syndrome. He is also the President of the Decibels Foundation and the Director of Information Technology at L.E.K. Consulting.
For more information regarding Usher syndrome or the Usher Syndrome Coalition, including upcoming events, visit the Usher Syndrome Coalition website at www.usher-syndrome.org. You can also connect with the Usher Syndrome Coalition on Twitter at @UsherCoalition and on Facebook at www.facebook.com/UsherSyndromeCoalition.
This interview originally appeared in Chicago Splash Magazine.