Episode #2 ADOA Podcast: About the Cure ADOA Foundation

Below you will find the transcript of this podcast.

00:00:03
Maud: Welcome to the ADOA Podcast. ADOA is a very rare hereditary eye condition. My name is Maud van Gerwen and I am here with Leon Augustijn.

00:00:11
Lion: Leon Augustijn. Together we will talk to professionals and experts about their view on ADOA. Welcome to this podcast. Welcome to this podcast. Nice that you are here and nice that you participate. I am Leon Augustijn, podcast maker, and who are you?

00:00:31
Gabrielle: I am Gabriëlle den Hollander. I am the secretary of the foundation.

00:00:37
Maud: Maud van Gerwen. I am a board member of the Cure ADOA Foundation.

00:00:43
Hedy: I am Hedy. I am treasurer of the Cure ADOA Foundation.

00:00:48
Lotte: My name is Lotte de Jonge and I am also a board member of the Cure ADOA Foundation.

00:00:52
Lion: So we're sitting here with I think almost everyone from the board, or everyone from the board. But why did this foundation come into being? And what is ADOA?

00:01:04
Hedy: ADOA stands for autosomal dominant optic atrophy. It's quite a mouthful, and it means that the optic nerves slowly die, causing vision to get worse and worse. There is also a variant, which is ADOA Plus. The main cause of ADOA is that too little energy is produced in the cells, causing the optic nerve cells, which require a lot of energy, to die. And with ADOA Plus, that lack of energy also causes problems in all kinds of other areas. For example, hearing in the muscles and in other nerves.

00:01:47
Lion: I asked how this foundation came into being?

00:01:51
Lotte: Well, that's a nice question, because we've all been out individually searching for: "Yes, what now?" Because at some point you get the diagnosis of: "You have ADOA, and there's nothing you can do about it". For me it actually started when I went to the flea market at work on King's Day, and at the last stall I wanted to buy something, and I gave a cigar box, and I think that was really nice for my father at the time, and I gave a ten dollar bill and the woman actually missed it, and she said: "Yes, I can't see that well, but I don't have glasses, that won't help, but you shouldn't pay too much attention to that." I think: "Okay, yes, that can happen". But that continued, and then they said: "Yes, it's actually in the optic nerve, and they can't do anything about it". And then it actually started to sound a bit familiar, that you think: "Okay, it's in your optic nerve, you can't do anything about it". And then I said, “Well, I do have something similar, but it's very rare.”

00:03:01
Lion: You won't just find these on the market.

00:03:03
Lotte: You wouldn't just come across them at the market, you would think. And afterwards it turned out that you did, so that was a very special moment. Anyway, I was with my clients and I thought: "I have to get going again quickly, because they were getting impatient too". But we did exchange information, and then we created a Facebook page and we thought: "If we can just meet each other at a flea market, yes, how special is that? Then there might be more people". So then we started a Facebook page, a closed Facebook page. That you really think the people who have ADOA, they are looking for it, and no one else. And then actually within half a year we had twenty members, and that was actually already very special. And so Gabriëlle and Sander were also there, and then we actually decided: "Let's get together sometime".

00:03:58
Lion: And how did that come together?

00:04:01
Gabrielle: Yes, how did that come together? First I really went looking for doctors, to see if I could find a doctor who had anything to do with ADOA, and if he knew a lot about it. And that was quite a search. And I had actually been looking for doctors who knew a lot about ADOA since I was twenty. And then I went to a lecture at the Eye Hospital, and there was doctor Van Everdingen. He gave his lecture about LOA, and every time a bit about ADOA is added, but yes, not enough, so to speak, to make it really interesting. So eventually I contacted the Eye Hospital, or no, the Eye Association, and they referred me to a contact day of the LOA, and that was doctor De Kool and doctor Van Everdingen, and they had a small piece about ADOA again. Yes, and I actually wanted much more than just that very small piece. So I asked them: “Yes, is more known? Are there more fellow sufferers?” And every time it was said: "You really are one of the few. Maybe there are ten in the whole of the Netherlands or something who have that." And then I looked further on the internet, and then I came across that Facebook page. Well, so then a bit of a back and forth chat and chat and share experiences.

00:05:32
Lotte: Yes, that was actually already super special that you think: "Wow, someone else is joining, someone else has ADOA". Then at a certain point we decided with twenty members that we would meet up sometime, in Amsterdam, at Sander's office. And yes, that was actually already a very special moment, because there were thirteen people who could, and suddenly you are in a room with people who all have the same thing, who are just as chicken as you are. And that was a very special moment, because I remember very well that a speaker came. I can't remember his name right now.

00:06:13
Gabrielle: Doctor De Kuil and Cor van Oosterwijk.

00:06:15
Lotte: Yes, exactly.

00:06:18
Gabrielle: And yes, he had said: "If you really want to achieve something for ADOA, you need people in the same situation, but you also need a foundation. So, then we said: "We'll arrange that."

00:06:31
Lotte: We'll sort that out.

00:06:32
Gabrielle: That was nice

So yes, it was nice, because you see that there are actually many more fellow sufferers than just you and me, so to speak. So then we actually got to work. But yes, that first meeting was very special, because everyone was very close to their phone and no one saw the powerpoint.

00:06:50
[Laughter]

00:06:51
Gabrielle: Yeah, yeah. He started out dead serious. But in the end, the ice was actually broken right away because you don't really see it all and all our partners were also joking around a bit.

00:07:07
Lion: If I summarize it like this, actually; since the foundation of the Facebook page you no longer felt so alone in it.

00:07:17
Lotte: Yes, I do. Well, my mother has it too, and distant relatives do too. But when you suddenly meet more people who have it, then you can share your experiences with each other more, I feel. And what do you encounter? And then you see that someone else is also encountering it, and that is really nice to be able to share that with each other and also gain inspiration from each other. Yes.

00:07:46
Gabrielle: And I also really liked knowing that we weren't the only ones searching.

00:07:51
Lotte: Ja

00:07:52
Gabrielle: I have been looking for doctors or solutions since I was twenty. And Sander had been looking for a long time, I understand, and had already made international contacts. And Dorien and Lotte were apparently already working together. Yes, then it was nice that you were not the only one who was setting something up. And I think that it was also important that we wanted to organize something together and wanted to achieve something.

00:08:18
Lion: Yes, yes. And what were the goals of the foundation? And still?

00:08:24
Hedy: I went to a peer support day for the first time in 2019. I hesitated for a long time because I thought: "I don't want to go to a pathetic little club". And eventually I found someone on Facebook who also had ADOA. Those are moments, I think we all have them, the first time we meet someone at all, either online, and then later in real life who also has ADOA, other than a family member, so to speak, yes, that is very special. So I found Kim, and Kim was still a student at that time. And I thought: "Well, maybe she wants to come with me". I come from Drenthe, so I sent a message saying: "So you want to come? Down-to-earth Groninger and down-to-earth Drenth, and then the two of us will see if it is a pathetic little club or if we can do something with it.

00:09:20
[Laughter]

00:09:22
Hedy: Yes, let's be honest, that's how it went.

00:09:22
Lotte: That's also true.

00:09:22
Hedy: I think that a lot of people still have that, even now, that they associate that with it. Yes, then we went together. Then we were on the train to Utrecht. And then it turned out, because we started talking to each other, that we were distantly related, namely that our great-grandmothers were sisters. That was a unique moment. I still get goosebumps when I think about it. That I thought: "How so?" And then we were there at the day of fellow sufferers, and Gabriëlle, and Dorien, and Lotte, and Marloes, and yes, it was just a feast of recognition, so to speak. It was really very special. What also struck me is that everyone was isolated, so there was also a group from Zeeland that knew a little bit, all families, all isolated, the Van Gerwen family, Maud's, all different information.

00:10:23
Lotte: Ja

00:10:24
Hedy: So one thought it was inherited like that, the other thought that this was the most important thing, and that's how it all came together. That's how it was. And then we went home, with Gabriëlle on the phone later, and she said: "Don't you want to be on the board?" And I said: "Well, I do want to help with the website, but I'm not going to be on the board. I'm too busy for that." And then she said: "But your daughter has it too, doesn't she?" Not quite that directly, but she did appeal to my mother's instincts, because my oldest daughter also has ADOA. Then I said "Yes." We're now almost five years later, a gigantic journey together I think. Back to the goals, because that's what we talked about. What I also want to say, I come from the business world, so I'm an entrepreneur in everyday life. And the foundation was there; the statutes were perfect, the website was adoa.eu, that had been thought about. It was so well put together, in the basics. The name is also international. And the goals we have are peer contact, advocacy, information provision and raising money to make scientific research possible so that healing gets a dot on the horizon. And in the beginning, when I was just getting involved, that went gradually, but in recent years enormous growth and a lot has been achieved. That we are now here in the podcast, yes, I think that is fantastic.

00:12:09
Lion: Yes, and Maud, what stands out to you, what has been achieved?

00:12:12
Maud: Well, I also joined the board at the foundation at about the same time as you Hedy. I think I was there for the first time on the peer support day before that, if I remember correctly. And now the same story as the rest, completely: “Wow, there are more people like me”. And in the meantime, you notice that when you invest time in something, it grows, or how is that expression? In the meantime, we have really done quite a lot of things, and especially the peer support contact, with those days that we organize, a lot of people really come there. Last year we had an anniversary day for the foundation's fifth anniversary. How many people were there?

00:13:15
Lotte: One hundred people

00:13:16
Maud: A hundred people, yes, so it was really busy.

00:13:19
Lion: And it started with: “There are at most ten in the Netherlands”.

00:13:22
Gabrielle: Yes, I even thought in the beginning that I was the only one in the Netherlands because it was said all the time. So it is really special when you suddenly see a hundred people who have the same thing as you. And I have also thought sometimes: "If people are really that visually impaired below 10%, then they walk with a stick, or they really can't see anything anymore". But that is actually not so bad, because I see 15 and 20% myself. But yes, someone recently said to me: "Man, then you can't really ride a scooter either?" I do ride one, but then really carefully, and not in the dark, and not in the rain. So people can really do a lot more than they think, but also than other people think. And I found that really special with peer support days, that you really see a lot of different people, and a lot of positive people too.

00:14:12
Lion: Yes, because how is that for you in terms of vision? And what you were told about: "The course of the disease may get worse"? I can imagine if you hear that, at least if I were to hear it, then I quickly think of well okay, at a certain point I can't see anything anymore, so...

00:14:30
Maud: Yes, that is also quite exciting. Because you know: "It is progressive, but no one can tell you where it will end, or whether it will stay the way it is now, or whether it will get worse". That is just very diverse, it is actually different for everyone. But if I look at myself, my eyes have deteriorated quite a bit in the last few years. I can see about 10% now. But it is what Gabriëlle also says, that sounds like very little to the outside world, and it is not that much, but I manage just fine in daily life. Yes, I do not drive a car, and I am very close to my phone, or cannot read the subtitles on the television, but otherwise I also function normally in a normal job and in a family. And fortunately I do not think about it every day, of: "Where can it end? And it can get worse". Yes, I know that, and sometimes you have moments when you think: "Oh yeah, shit, well I hope it stays like this". But that's not a thought you can think about every day, because then…

00:15:49
Lotte: No, you really get so depressed when you start thinking about it. I do notice that with everyone that they just look ahead more like: "What is possible? What is possible?" Instead of: "What is impossible?" I think that people with ADOA are very creative in daily life. Yes, I do think that.

00:16:07
Maud: Sure, and you also have because you don't see well with your eyes you solve that in other ways or something. Then you have other tricks to go through life.

00:16:22
Lotte: I also think your other senses are more stimulated.

00:16:26
Lion: We're sitting here, I'm the only man, but I can also imagine that you're going to think about having children. If you don't have children yet, are you going to have children or not?

00:16:39
Maud: Yes, and that is also different for everyone how you stand in that. Because how is.

00:16:46
Lion: Because what is that like for you?

00:16:48
Maud: My children do not have ADOA. We had children with PGD, so embryo selection to rule out that they would get it.

00:17:05
Lotte: I don't have children yet, but the desire is there in the future. We were always told fifty-fifty whether or not you pass it on to your children. And in the past it was said: "You either have it or you don't", but now that is different, because you can also be a carrier, so you can also get it later. But when I heard Maud's story, that gave me inspiration and motivation again of: "Okay, I can also go through these processes and then rule out that it gets ADOA". And that is something I want to do in the future.

00:17:45
Lion: Do you see that in more things? In cooking, or other things? Practical things, cleaning the house or something, that you sometimes maybe use your partner for that, that you say: “Yeah, I can’t see it that well, so…”

00:18:02
Hedy: I hate cooking, so I don't cook. When I was sixteen I saw 50%. I always thought it was stable, that's what I was told in the Eye Hospital: "It's stable". So I was sixteen, I've always lived, I've driven a car, had jobs, studied, and as Maud just said: "You compensate", so in my case a lot on hearing and memory, when people come walking, how they hold themselves, the voice. You can't really explain that, but that's how you compensate for things.

00:18:43
Lotte: You look differently.

00:18:44
Hedy: Yes. I think I'm the oldest of the four of us. In my generation, that wasn't talked about either. I have friends from university, who only found out in the past six years that I have something to do with my eyesight, so to speak. Different times. I always thought it was stable, so I also had children, not in the mindset that it was hereditary, that I could pass it on. For a long time I thought I was the only one in our family, because the symptoms of the disease vary greatly between patients and also within families. So yes, I didn't think about children. My oldest daughter is now 23, still has 30% vision, drives a car with telescope glasses, went to art school, works five days a week in the catering industry, so it is also inspiring for me and for others. But I did feel guilty later, but yes, I thought: "I am happy with her, so yes...".

00:19:54
[Laughter]

00:19:55
Maud: Yeah, you didn't know.

00:19:58
Hedy: And afterwards there is no point in looking back on that, because I would not have wanted to trade in my child if it had been without ADOA, to put it bluntly.

00:20:05
Lion: Yes, nice. But actually that says about peer contact that you learn from each other and inspire each other.

00:20:13
Lotte: Yes.

00:20:13
Gabrielle: Secure.

00:20:16
Lion: Of course, that is not the only goal. Then we are also talking about scientific research. As an outsider, you could also say: "Isn't there enough science already? Why should there be an extra foundation?"

00:20:33
Hedy: What you already hear is how much disinformation there is, how many different types of information. So if you talk about scientific research in the Netherlands, there is currently no research into ADOA, so if we remain limited to that, yes, then it stops. The reason we went international is that those first contacts were made by Sander, and by Dorien, Lotte, and Gabriëlle, and I think Marloes too, with doctors internationally who were specialized in that and who also did research. Who were not only ophthalmologists, but also did research. We have now been on the road for five years. We have a series on our website called: “The Road to Treatment”. We are now on number 26 or 27, I believe. That is all about fundamental research, but also about research into cures, about pharmaceutical companies who develop things. We can make a separate podcast about that, just about scientific research.

00:21:32
Lion: Yes, definitely. That is also good to do that. What is the need now to really do that research? And how can we ensure that it gets off the ground even more in the Netherlands? What do we need then?

00:21:46
Maud: Money.

00:21:48
[Laughter]

00:21:51
Maud: Yes, finances. Ultimately, we want a medicine to cure it, or at least to put a brake on it, to stop it. So that's why one of our goals will always be to raise money for scientific research, until that medicine is there. Then we'll just do fun things together.

00:22:17
Gabrielle: And also bringing fellow sufferers together. Because without fellow sufferers you don't have any research.

00:22:21
Lion: Yes. And suppose I now say: “Well okay, I want to support or sponsor the foundation…”

00:22:29
Lotte: Please do so.

00:22:29
Leon: “How do I do that?”

00:22:31
Hedy: We just have a bank account number, we have Tikkie on the website, you can organize deposit refund campaigns, we have a water campaign, that you ask a restaurant for water for charity, you can run, you can walk, you can cycle. So there are many ways on our website to support us financially, or to do something and raise money.

00:23:00
Lion: And that almost goes straight to the good stuff?

00:23:05
Hedy: Yes.

00:23:05
Lotte: Yes.

00:23:07
Maud: wwww.adoa.eu

00:23:09
[Laughter]

00:23:12
Lion:  Beautiful.

00:23:14
Hedy: Yes, definitely. What is good to know: we are all patients, and we all work as volunteers, so we are unpaid. We are now subsidized by the government as a patient organization. That means that we receive government subsidies for advocacy, information provision and peer contact to make that possible. On the other hand, we are a fundraiser where we raise money to make scientific research possible. I think we started with a few thousand euros the first year, at that time the money we had raised was €3.000. They started with €3.000 in 2018. We are now in 2024, we have raised €220.000 in the past six years, and two or three weeks ago we signed the contract with Stanford University in Los Angeles and we transferred $100.000 to make research into a cure for ADOA possible, that is fundamental research. That we have achieved that in six years…

00:24:33
Lotte: That's really fantastic.

00:24:35
Hedy: That is really sensational. A bit crazy to say that about yourself, but….

00:24:42
Lion: Well, it's a nice result. Also for the listener of: "Okay, not just that I transfer money somewhere and I don't see any result." But in this way you can also make it clear that it really contributes directly.

00:24:55
Maud: Of course.

00:24:56
Hedy: Yes, absolutely. There is so much going on in that area. That also gives hope. But it is also a very complex world. But we have kind of rolled into that over the years. So we are in contact with all the researchers in the whole world. We have a number of pharmaceutical companies that are developing medicines, but that is a medicine to slow down, to stop it, so that there is no further deterioration. I have lost about 20 to 25% in the past thirty years, I see that less. My daughter is 23, she is now around 35%. So yes, that is what we do it for, to make sure that she at least keeps that, and perhaps in ten, twenty, thirty years something will cure it. When she is fifty, the same age as me, that then…

00:25:56
Lotte: Yes, that more is simply possible.

00:25:58
Hedy: Yes.

00:25:59
Lion: Yes. We've almost reached the end of this podcast, maybe it would be nice to know where you hope to be with the foundation in five years.

00:26:18
Maud: Good question.

00:26:19
Lotte: Yes.

00:26:20
Lion: You may also personally think: “Well, I would like that as a board member”, without that being something that you have in common.

00:26:32
Hedy: What I hope, what we are also working on, is that we will receive sufficient resources as standard to continue to fund certain research as standard. That is one thing. That we have reached all patients in the entire world, in all languages, because we are now in Dutch, but we really think internationally. The number of fellow sufferers that we have reached in the Netherlands is I think around 200 to 250, something like that. In Germany there are now eighty, and in the entire world we are around 400 to 500.

And that is only growing. So that we have reached everyone worldwide. And that there is a view of healing. And the ultimate goal is that we can abolish ourselves, that will take a bit longer than five years. And that we still do it together, and have so much fun and so much pleasure. That is also beautiful.

00:27:35
Lotte: I agree with that.

00:27:35
Gabrielle: And I hope we get more volunteers, because I noticed that we started as a board with a few people, but we have become super big with an even bigger board, but also with even more volunteers. And I think without all these people we would not have achieved what we have achieved now.

00:27:56
Lotte: Co-funding is not required.

00:27:56
Hedy: Co-funding is not required.

00:27:57
Gabrielle: So I hope we only get bigger.

00:28:01
Lion: Yes, great, thank you!

00:28:03
Lotte: You too!

00:28:04
Maud: Yes!

00:28:04
Gabrielle: Yes!

00:28:05
Hedy: Yes, thank you!

00:28:06
Lion: Thanks for listening to this podcast.

00:28:09
Maud: Should you have any further questions or wish to discuss this further? Please contact us via our website adoa.eu.