The Dutch Usher Syndrome Foundation (Stichting Ushersyndroom): Serving a tight-knit community

How did you get involved in the foundation? 

Ivonne: “The foundation was first started in 2012 by a family that had a daughter with Usher. When they created the foundation, they were mainly looking for information. I got in touch a little later, when me and some others created a campaign and website for them. The family was quickly overwhelmed by that project, but they liked how we did it and they asked us to take over the board of the foundation. Then we spend some time to professionalize the organization; we had to get official status and statutes et cetera.”

Annouk: “Ivonne then called me in 2016 to ask if I wanted to be involved. I hesitated since I still had a full-time job back then, and two young children. But I also had a drive – I really wanted to do this. And so, I did.”

How is the foundation doing now? 

Annouk: “We’re doing a really good job. We don’t get subsidized, so we spend a lot of time looking for funds. And that means I can’t spend as much time as I like on strategy, or on networking with other organizations like Fighting Blindness in the United States. That is challenging sometimes, we have so many plans!”

Ivonne: “Yes, we do a lot of tasks ourselves, and I have to make sure that I can still manage everything that is on my plate. We now even receive emails from patients in Iran or Australia. We are making an impact, and not just for the patients. We came third in a Dutch ranking for small foundations, because we have a lot of funds for an organization focused on a rare disease. And that is all done by patients and family members, with so much positive energy. I’m really proud of that.”

What are the main goals of the foundation? 

Annouk: “Of course, we collect funds that we use to finance research projects. But we also put lots of energy in improving the quality of life for people with Usher. That can mean providing them with information, but also supporting the relationships within the community.”

Ivonne: “We work a lot with researchers, like Erwin van Wijk at the Radboudumc in Nijmegen who initially invented ProQR’s RNA therapy for Usher syndrome. We just donated him 200.000 euro for his research, and of course this is peanuts compared to what developing a therapy costs, but it might give him his last nudge. He also values our contact with him, and he wants us to spread the news about his work with the Usher community.”

Annouk: “It’s really special that we have such a tight-knit community around Usher here in the Netherlands. Not just the patients, but with research, doctors and of course ProQR as well. It’s literally easy to find each other, since we can visit one another without too much hassle.”

Ivonne: “I agree, and it becomes really visible during the ‘Zevenheuvelenloop’, a 15-kilometer hilly run in the east of the Netherlands. We first participated five years ago with 23 runners who collected money for the foundation, but last time we counted over one hundred! And it’s diversifying too; not only patients, but also parents of patients are participating now, as well as the researchers and ProQR employees. Some young patients even use the event as a way to come out of the closet as someone with Usher.”

Does this community help with the progress towards a treatment as well? 

Ivonne: “We think so. In a way we are all looking for the same thing: identify patients early. Either to raise funds, or to participate in research or in clinical trials. Young patients are essential for that, because their disease hasn’t progressed that much. But they are hard to reach, perhaps in part because they are not ready to face the facts.”

Annouk: “We are seeing that older patients are becoming very willing to share and to help, more so than the young ones. I guess it is confronting. It remains a disease that makes your world smaller and smaller. You start out seeing, often hearing too, and slowly you lose these senses. It means you lose parts of yourself too. My husband still remembers me biking to the pubs to get a drink or even driving. But my youngest son only knows me with my cane. This makes it hard to hope for a treatment. Hope makes you vulnerable, and we’ve been promised things so many times over the last decades that didn’t come true.” 

What could help to raise awareness even more? 

Ivonne: “We are running a campaign called ‘Do you know your DNA?’ and it’s aimed at increasing the knowledge of the disease. The type of Usher syndrome that you have is in the end less important than the exact mutation. In the Netherlands a lot of patients are already aware of the importance of genetic testing and we have identified roughly half of them. But in the US for example, there is a lot to improve. Besides genetic testing and creating international databases we need to do more. One of our goals for the coming years is to forge new collaborations and identify patients in novel ways. The challenging part for us as a patient organization will also be that if ProQR’s work leads to a treatment, it will only work for a portion of the Usher community, those with mutations in exon 13 of the USH2A gene. I can imagine that it will be emotional for some of us with a different mutation that it will not work for them.”

Annouk: “It’s great that ProQR has made it this far, it’s truly encouraging. No other company achieved that, and most have never even bothered to look for something. Just the fact that some people are paying attention and are trying to do something is really special.”

Visit the website of the Dutch Usher Syndrome Foundation (Stichting Ushersyndroom) or read more about ProQR’s program for Usher syndrome and retinitis pigmentosa.