Silvia Cerolini: We were in a dark place for a long time. Up until after the summer, it was a disaster. Then suddenly, we realised we wanted to do something about it, but had no idea where to start. The first thing was really reading every single article on Google. I normally joke that there is a final page in Google search results, because I went there for Vicky's condition.

There was this feeling of, “What can we do?” and “Let’s get as much information as possible,” but I had no idea we could actually do something about it. The world of science seemed so far away and so perfect. I thought, “I’m coming from a completely different reality. What can I do?” At the beginning, I couldn’t even imagine that we could make an impact. We just wanted to learn as much as we could and see if there was anything we could do.

It was a natural progression – talking to people, finding information, believing there must be something now or in the future. We started looking into who was doing research, what other people were doing, and which conditions were similar.

It was such a steep learning curve, trying to absorb everything and speak with as many people as possible. I started emailing patient organisations all over the world, reading research papers, and asking, “Where do we start?”

The turning point came when a doctor told us they were working on a gene therapy for RPE65 – what later became Luxturna, one of the first gene therapies ever approved. That approval came a few months later and gave us a huge push of hope. The doctor said they were also working on RDH12 and that it would come in the next 12 to 18 months. That was 2016.

Of course, that was an oversimplification and overpromise – things still haven’t happened even now, nearly 10 years later. That was when we realised things were not as easy as they seemed.

It’s quite frustrating for me, because people often say, “Science is full of miracles – things happen quickly, you never know.” For someone outside the field, it can seem that way. You read an article and think, "Oh, we've learned how to do this, we're doing it." But being deep in it, I know exactly where things stand and how long it takes to move things forward.

Things don’t happen by chance. Progress takes far too long, and it shouldn’t be that difficult. For us, commercial interests weren’t aligned, so we faced years of stops and starts. It really should have been faster.

That’s why I’m now trying to do things differently as we develop our programme and trial — to make things actually happen. There’s a lot of talk and expectation, but in practice, progress is still slow. Regulators need to adapt, and companies need to change their traditional ways of thinking.

From a patient perspective, that’s where I see the real opportunity. We bring urgency – a sense of “We need to find a way.” That mindset exposes opportunities that might otherwise be dismissed as, “We’ve always done it this way.”

Take trial design, for instance. The use of real-world data could make trials more efficient, with better endpoints and measures, but we’re still scratching the surface. The trial we’re designing now should be better and faster than the one used for Luxturna years ago.

A great example is what we’re doing now with Opus Genetics – it’s a true partnership. We’re co-developing the programme, pooling resources, funding, networks, and expertise. Together, we’re engaging regulators, pushing for progress, and involving the wider ecosystem. We’re not just patients – we bring knowledge, connections, and a sense of urgency that can really change things. We’re constantly asking, “How can we do this faster, cheaper, more efficiently?”

We also bring ideas and connections to the table, especially in engaging regulators, where patients have a unique role. Regulators are often more open to dialogue with patients, rightly so. There are things only patients can bring, but the industry doesn’t always see that. They think, “You have lived experience, but we know how to develop drugs.” The truth is, we can help develop them faster.

I remember early on, when I was knocking on company doors, many said, “Thanks for reaching out – we’ll come back to you when we have a therapy.” If you see patients only as consumers at the end of the line, you’re really missing the mark.

The big area is how you define the success of a trial. That generally is a combination of what the manufacturer of the therapy thinks, what the regulators want, and what the patient experiences. Sometimes these three are not necessarily talking the same language. A couple of years ago, one of the first things I did was bring people together to talk about endpoints and outcome measures for RDH12-IRD, and more in general for inherited retinal dystrophies.

It's touching a lot of the issues that touch rare diseases in general, in terms of the small patient population, slowly progressive disease. How do you measure success in a trial that cannot last for 10 years? Really, it doesn't make any sense.

We had some adult patients in our community, with advanced stages of disease, explaining how, for them, it was even critical to maintain light perception versus not having any light perception. How it would make their life better when it comes to knowing where a window is, or knowing whether they were sleeping with the light on or off, and the quality of their sleep and their life. Even explaining that, if we can maintain that, is a great benefit.

Even the fact that we were able to bring all these people around the table, and only we as patients were able to bring regulators, clinicians, companies, and we were the catalyst for this discussion, that's, again, showing the role that we can play in making sure that things move forward. On the surface, it is about understanding the disease and what patients want, but it's a lot more than that.

Building the community is vital, but also very difficult, because everyone reacts differently to a diagnosis like this. Each family is on its own journey – some are newly diagnosed and eager to get involved, others were hopeful and have lost hope, and some are further along and want to give back. Add the diversity of culture, language, and geography, and it’s a real challenge to keep everyone moving forward together.

I wish I had more time to cultivate it, but we’ve done a lot to bring people together. We now have families from over 20 countries. It’s wonderful to be able to offer hope. We talk regularly, organise virtual calls, and even held an in-person family day a couple of years ago. We’re hoping to do another next year, though it’s a big commitment in time and cost.

My biggest piece of advice is if you really want to push the cure forward, get very close to the science, as close to the science as you could possibly be. I know I don't have a PhD in genetics, but I learned, because you need to be able to understand the language, to be taken seriously, to understand what the roadblocks are. 

Don't assume that science is a well-oiled, fantastic machine. If you really want to understand, go deeper and really understand where the barriers are, because they might be different than it appears on the surface.

If I had to do it again, I would have pushed sooner for us to take this in our hands. At that time, it was like, "I don't know how to do it right," and I have to trust people that say they know what they're doing, even if they don't necessarily have all the answers. Don't stay at the surface, but go deep.