Earlier this month, I had the opportunity to once again speak with Mark Dunning, Chair of the Usher Syndrome Coalition. For those of you who may be unfamiliar, it is — as I wrote in my introduction to my 2015 interview with Mark — a wonderful organization committed to connecting with and providing support to those individuals diagnosed with the condition and their families, as well as supporting the research that is so crucial to finding potential treatments and cures for the condition. Read on to see what Mark had to say about Usher syndrome and the Usher Syndrome Coalition, some of the ongoing research and progress that has been made and, of course, the organization’s 9th Annual USH Connections Conference — which, it should be noted, will be taking place in Chicago for the first time in the history of the event.
Andrew DeCanniere (AD): For those who may not be familiar with what Usher syndrome is or, for that matter, who may not be familiar with the Usher Syndrome Coalition, I was thinking that perhaps the best place to begin would be the beginning. So, could you maybe provide a little background on both?
Mark Dunning (MD): Sure. Usher syndrome is the most common genetic cause of combined deafness and blindness. There are probably around 400,000 people in the world who have been diagnosed with it, but they’re spread out all over the world. For people with Usher syndrome, the problem is that historically the diagnosis was that they were born deaf, they were going to go blind, there were no treatments and, because it was so rare, they would probably never meet anybody who had Usher syndrome. That made people feel very hopeless and alone, so we tried to address that issue, first by building a community so that they knew they weren’t alone.
One of the ways to try and do that was through this annual Connections conference that we hold. This is our 9th annual conference, and we move it around the country, because it can be difficult for people with the condition to travel long distances. We try to move it to them to make it easier for them to get there. We also try to connect them with the research that is going on, because there’s a lot of very exciting research taking place. The comment that people often get, that there is no cure, is true in the moment. However, there is a lot of stuff that is pretty close that can really make a big difference in peoples’ lives. We try to make sure that people not only have connections to others with the disease so that they have emotional support, but also so that they have connections to the researchers and physicians, so that they really understand what the state of the research is and have the hope that comes along with that.
The Usher Syndrome Coalition is the largest Usher syndrome advocacy organization, and we are trying to build a community. At this point, we support families in 50 different countries. Our goal is to be the central point of information for all of the community — not just those diagnosed with it, but also for their families and for researchers, as well as the service providers that support them. We try to provide information to all of those groups and we’re kind of the central point for the entire community.
AD: I’d imagine it’s pretty critical to stay current with respect to what’s going on.
MD: One of the things you run into with something being a rare disease is that you really need a high participation rate from the community in clinical trials, because clinical trials take a lot of resources. It can be hard to find appropriate candidates among the entire community, and if you have a small pool, then it becomes even harder to find enough people to participate in your clinical trials. That’s one of the main reasons we’re trying to connect the researchers and the community — so that people know about the clinical trials that are happening, and they can then determine whether they want to be involved. We need to be able to connect as many people as possible if we’re going to have enough candidates to perform these clinical trials.
AD: And even with recent changes that were intended to make things a little easier with regards to clinical trials and getting pharmaceuticals to market, it sounds like it can still be pretty challenging.
MD: Yeah. You can’t avoid having it tested in people. You still have to have that step, and you need people to be able do that. You know, there are a lot of restrictions with regards to clinical trials — even with this goal of trying to make it easier to perform clinical trials, you still need to follow up with people regularly, which means that once you’re a participant, you have to be able to get to the follow-up site. You often have to have people who are local. If you have a small pool of people and the trial is being performed, for example, in Portland, Oregon — as one of the trials is being performed — you really need to identify just about everybody in the Portland area, because you have a limited pool of people.
There’s a lot of really exciting stuff happening. There are a couple of clinical trials going on for the vision portion of the condition. One is a specific gene therapy for Usher 1b — which is a particular sub-type of the disease. There’s another clinical trial going on for Retinitis Pigmentosa, which is the vision portion of the disease. That’s entering a Phase II clinical trial and shows quite a bit of promise. There are drug therapies that are coming. In fact, one of our speakers at the conference — Michelle Hastings, who is an Associate Professor at Chicago Medical School, Rosalind Franklin University of Medicine and Science — is an expert on drug therapies, and has been working on drug therapies which could potentially help certain types of Usher syndrome as well. That’s another one of the reasons we move the conferences around, too. It makes it easier for us to get researchers who are local to come out and speak. It’s an opportunity for them to talk about what they’re doing.
AD: Speaking of the conference, it sounds like there is quite a lot planned.
MD: There is. We’re holding the event at the Chicago Marriott Downtown. We will have a number of speakers in attendance who are researchers, and then we also have some speakers in attendance who have Usher syndrome. As I mentioned, Michelle Hastings will be there from Chicago Medical School. We’ll have Ed Stone, who is a researcher at the University of Iowa. He’s going to be our Keynote Speaker, and was recently named one of the top 100 most influential people in ophthalmology. In fact, they’re doing a big fundraising effort at the University of Iowa. They’re trying to raise eight million dollars to do Usher syndrome research.
We also have Bill Barkeley. Bill has Usher syndrome and he’s quite an interesting guy. We hold an event every fall called “Own the Equinox.” The third Saturday in September has been named Usher Syndrome Awareness Day by the United States Congress, and so we hold an event called “Own the Equinox” leading up to that. Last year, Bill went over to the Camino de Santiago in Spain — which is something like a 500-mile hike — and did that in the month leading up to Usher Syndrome Awareness Day. He arrived on Usher Syndrome Awareness Day and, in so doing, I think that he raised almost $40,000 for research. He’ll be coming to speak about his experience. He is just about completely blind at this point, so he did that whole hike with very limited vision. It was a big effort for anybody to do it, but for someone who can’t see, it’s even more impressive. Bill’s an impressive guy, really. He made a video about it. I think you can get to it through our website. In it, he talks about how he can’t see the sights as well as other people can, but what he can see he appreciates a lot more. He also talks about how much he appreciates the smells that he smells, the feeling of the sun, the feeling of the road, and those sorts of things. He has his own sensory experience — even though it’s not the one we would normally expect.
Ultimately, what you’re trying to do by treating the disease is you are trying to prevent people from being disconnected from the community. People lose their vision and they can’t participate in the sighted community to the same degree that they used to, or they lose their hearing and they can’t participate in the hearing community in the way that they had. However, if you can create a strong enough community, people still have those social connections. The whole point of trying to cure the disease is to ensure that people can maintain social connections. We can sort of kill two birds with one stone by developing some of those social connections while trying to find cures for the disease.
AD: And, as you said, just that ability to connect can be huge in and of itself.
MD: It is. This is our first time doing this in Chicago. The conference we held last year was the first time we sold out a conference. It was in Seattle and we actually filled up the room. We couldn’t take any more people. So, we’re excited about having this conference in Chicago. We have a bigger space, and it’s easy for a lot of people to get to because it’s central. We’re hoping to build on those connections in the Chicago area. The Chicago Lighthouse for the Blind is a very strong organization with a lot of connections, so we’re hoping to be able to find all of the people diagnosed with the condition in the area.
AD: Sounds like it’ll be really interesting — and, perhaps more importantly, like there’s been quite a bit of progress that has been made where research is concerned.
MD: There is quite a bit of progress being made on both the vision side and on the hearing side. There’s a husband and wife team, Gwen Geleoc and Jeffery Holt, who have been very close collaborators of ours, and who recently published an article in Nature about how they were able to rescue the hearing in mice using a particular type of gene therapy. They were able to bring the hearing back to the point where they could hear a whisper. That is something that holds a lot of promise for people with hearing loss in the future, as well as those people who have Usher syndrome.
It’s also a pretty inspiring thing to see. We often have adults who come to this event, and they have never met anybody else who had Usher syndrome before. We have a children’s program and many of the kids have been getting together for a number of years, and they really look forward to seeing each other. For the kids, it’s the only time in their lives where they are the majority in a group. Usually, they are the one kid who can’t see well or can’t hear well, and they have to adapt to the crowd. When this group gets together, the majority of them are kids with Usher syndrome. It’s their siblings who are in the minority, and they all have to adapt to the kids who have Usher syndrome. Most of them know what it’s like to have someone who has Usher syndrome in their life, so it’s one of the rare times where these kids can actually be themselves and not feel like they have to adapt to some other environment.
AD: Is there anything else that you wanted to add?
MD: One thing that I do want to mention is that Rebecca Alexander, who wrote a memoir about Usher syndrome called Not Fade Away, is trying to get a social media thing going, and she’s calling it the “Usher Dance Challenge.” She’s asking people who have a connection to Usher syndrome — or who want to support the cause — to dance to a song by the singer, Usher, and then challenge others to do the same thing.
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.
The 9th Annual USH Connections Conference will be taking place on Saturday, July 15, 2017 from 7:00 AM – 5:00 PM in Chicago at the Chicago Marriott Downtown Magnificent Mile, 540 N. Michigan Avenue. For additional information, or to register for the conference, click here.
For more information regarding Usher syndrome or the Usher Syndrome Coalition, including upcoming events, visit the Usher Syndrome Coalition website. You can also connect with the Usher Syndrome Coalition on Twitter and Facebook.
For additional information regarding the gene therapy that is referenced in this article, click here to be linked to a Press Release that provides a more detailed look at the progress that has been made by Gwen Geleoc and Jeffrey Holt or click here to view her USH Talk video on the subject.
The three portraits that appear in this article were taken by photojournalist Evan McGlinn as part of the ongoing Shine a Light on Usher Syndrome campaign spearheaded by Arts for USH, in partnership with the Coalition.
Arts for USH (KbK) and the Usher Syndrome Coalition are partnering to bring awareness to the most common genetic cause of combined deafness and blindness, Usher Syndrome.
The Arts for USH campaign is called Shine a Light on Usher Syndrome in order to give a face and voice to Usher Syndrome through photo journalism and Art. Our goal: to build empathy and awareness about this disease, in the hopes of finding new treatments and, ultimately, a cure.