In the Spotlight: Michael and Jonathan Tutnauer
Cindy: Michael and Jonathan, we are so excited to meet you both. At the end of the day, the Initiative really exists for patients, and we’re so grateful to your great uncle not only for his generosity, but also for bringing you into our circle and connecting us. We are thrilled to have you both be involved!
Michael: Cindy, we’re forever grateful to your family for getting the Initiative started and for everything you’re doing with your work. We really value and appreciate everything you and your father put in motion.
C: Thank you. Thank you for saying that. I really appreciate it. I know my father would be smiling to know how much progress we’ve made and how many people we may soon be able to help.
I’d love to begin our interview with a discussion about your history with your diagnosis, including your misdiagnosis with RP in 1995. What were the first signs of the disease that you both experienced and when did they first appear?
M: As you mention, in 1995 when I was about 10 years old and my brother Jonathan was 7, our ophthalmologist noticed something concerning during a routine visit. We were eventually referred to Dr. Eliot Berson at the Massachusetts Eye and Ear Infirmary. Dr. Berson was one of the few specialists overseeing RP studies and treatments at that time. Jonathan was also tested at that time, and it was confirmed that we both had RP.
The disease didn’t really affect me until I was about 13 or 14. The first symptoms were the night blindness and loss of peripheral vision. I could still read at a relatively typical level for my age at that point, but my peripheral vision was starting to go. I played basketball throughout high school, and I really noticed the symptoms the most when I was playing – I had to have my head on even more of a swivel while I was playing so I could avoid running into other players, or having other players run into me.
I wasn’t diagnosed with USH3 until I was in my mid-20s, in 2013. Jonathan had gone for genetic testing and found out he had the USH3 mutation. I remember he actually called to tell me about the results the day I ran the NYC marathon. From there we really started to learn more about USH3, first about Usher syndrome and the subsets and then about USH3 itself. At that point, I got genetic testing for myself. I did the Ashkenazi Jewish panel: my wife and I had just gotten married, and we wanted to see if we had any of the same mutations since we were thinking about having kids. Through that testing we confirmed that I had the USH3 mutation and that she did not.
Jonathan: My story is very similar to his. As Michael mentioned, I was at that same appointment when we first got diagnosed. I was 7 at the time. My first symptoms were night vision and peripheral vision problems, which I started noticing a little bit in my teens. But, if you told me that that’s how everyone saw, I would have believed you. I didn’t really think there was anything unique to me. It got more noticeable in college though. We would go out to dark parties or bars, and it would be much more of a struggle for me. Even just walking out at night sometimes became difficult, depending on the area.
I was 23 or 24 when I got the genetic testing done. At that time, I was in law school, and I noticed I was having some hearing difficulties. Shortly thereafter, I received the diagnosis.
I first got hearing aids around 5 years ago. I still wear them today, and my hearing is probably considered moderate at this point. I have limited peripheral vision—about 20 degrees all together. My night vision is non-existent. My central vision is about 20/60 with glasses in one eye and about 20/100 in the other. Practically speaking, this means that I have severe tunnel vision. If I’m out at night at a restaurant, I have no shot at reading a menu. But, I’ve adapted: I’ll take pictures of the menu on my phone to be able see it. If I adjust the letters on my phone to one of the bigger settings, I can usually read the screen. I generally use dark mode. Same with my computer. I don’t use any special software just yet, but I adjust all the accessibility settings to adapt to my needs.
M: It’s interesting, we’re two brothers but our experience of the disease even varies just between us. My hearing is still pretty decent at this point, I haven’t had much loss, but my vision is worse than Jonathan’s. I would be considered legally blind.
Legally blind is an interesting term, because people think that “blindness” means you can’t see at all, but that’s not really true. I can still read on my phone and computer in enhanced views, but it needs to be very enhanced. Reading street signs and reading menus is not possible anymore. But, one of the things that happened during COVID is that restaurants started using QR codes for menus, which is great because now I can actually read menus again via my phone. The phone itself has been unbelievable. It’s been a fantastic tool to gain greater independence.
C: Thank you for sharing that. I think it’s important for our community to hear. It’s remarkable how the disease presents differently in different people, even brothers! I’ve also had the same experience with confusion over the definition of legal blindness.
Given the similarities in our diagnostic experience, both from the perspective of living with a misdiagnosis, to working with clinicians at Mass. Eye and Ear early on, the fact that our paths never crossed is indicative of a trend in the larger community in that it’s not that easy for us to find each other. There isn’t really a great network. Part of that is inherent in the disease: having auditory and visual difficulties makes it harder to use social media and the internet, so that option doesn’t open up as many possibilities for us as it does for other people.
I’m curious: have you ever wanted to be part of a broader community of USH3 patients? Have you made any efforts to reach out to or connect with any of them?
M: This is actually one of my first steps into that world. Since USH3 is progressive, when you have the disease, right or wrong, you’re almost trying to hold onto your sense of normalcy every day. Since my brother and I have one another, we relied on each other most of the time and didn’t really look for any outside individuals that also had USH3. I don’t want to speak for him, but I think in my case, I avoided looking for other patients because it would have made me feel like I was stepping from one life to another, and I wasn’t ready to do that. Ultimately, I think that hurt me for a long time because I was never totally comfortable with who I was. But, in the last few years, my wife really helped me to embrace who I am, living with low vision, and now I do seek that community. I have friends with vision issues, and we joined the USH coalition’s mailing list. It is something that we do want to get more involved with, and I agree it’s interesting that we never crossed paths despite having the same doctors and connections with some of the same institutions. The first time I heard of the Initiative was actually from one of my former doctors at Hopkins, Dr. Scholl. He is no longer there, but he had listened to you speak and brought your organization to our attention.
J: I think that given the nature of the disease, finding a community is particularly challenging. The rarity of the disease is another challenge. It’s very hard to even know where to start. I feel like there is limited information out there on USH3, which is part of why the Initiative is so important.
In fact, aside from my brother, Cindy, you’re the first person I’ve met with the condition.
C: Would you like to meet other people with USH3?
J: Yes, sure, absolutely. It’s always good to get other perspectives, see how other people are dealing with things, if they have any tips or tricks or hacks that might help me get through work, or really anything. I do think having a community is important, but as I said, I haven’t even known where to start.
Georgia: We’ve heard that a lot— in one way or another, basically every patient we speak with has said that it’s hard to find a community. I’m really glad to be able to play this role of connecting individuals who are interested in developing a network with each other.
C: Yes, I agree!
I’d like to turn to a different topic, related to the experience of living with this disease. At various points, I have felt self-conscious about my diagnosis and haven’t wanted to be treated or seen differently, and I haven’t wanted to restrict my life or feel that it’s controlled by the diagnosis. I think that this feeling can also limit exposure to the broader community. I’m curious to hear more about your experience with that aspect of USH3.
M: Absolutely. I was very self-conscious about the diagnosis for a very long time. I wouldn’t even tell people about the RP when that’s all I thought I had, let alone USH3 once that diagnosis was confirmed. As an adult, it’s really been very helpful having a great network of friends and family that I can talk to and discuss the disease with. They have really allowed me to open up and be okay with it. It’s difficult because you don’t want your life to be different, you don’t want to be treated differently. The last thing I’ve ever wanted from anyone is pity because everyone has pain, everyone has struggled, and this is mine, certainly, but it’s something that I take on as an opportunity and a challenge to be better every day with. It’s difficult absolutely, but it’s something you work with day-to-day and try to persevere with.
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Cindy Elden (top left) and Georgia Horn (top right) speaking with Jonathan (bottom left) and Michael Tutnauer (bottom right) over Zoom.
J: Yeah, I echo everything my brother said, but I also think there’s another aspect: there’s the way other people see you and then there’s self-perception. I know for myself, at 13 when I started experiencing problems with my vision, I could still essentially see myself as a normal 13-year-old. Due to the progressive nature of the disease, there’s more and more difficulty as time goes on, but you still want to see yourself as a normal person…and then at some point it dawns on you that you do have this disability. It’s not just a little trouble, it’s a lot of trouble. It’s hard to have that change in self-perception. And then you start thinking: what prevented me from seeing myself in this way? Stigmas? Something else? I think that’s my own mental hurdle that took some time to get over and really come to grips with what it means to live with USH3 and how to have a good outlook on it.
C: Absolutely. I can relate to a lot of what you said.
On a similar note- I believe you’re both married with kids? I guess I’m also curious about how your families are supportive and handle what is actually a constantly changing condition?
M: That’s right, I have a 6-year-old and a 1-year-old. My 6-year-old knows that I have a vision issue. My 1-year-old is just happy to have his diaper changed and eat three bottles a day. My wife is my rock. She is the most supportive person in the world. When she sees that I’m struggling, she encourages me to find ways to overcome that struggle. For instance, it’s only recently that I got a cane, that’s how in the dark I’ve been about my own condition. For the most part during the day walking around isn’t too much of an issue, but I’ve almost become isolated by not going out at night. My wife suggested that I get the cane, do the training, and in general just encourages me to be more independent and to really embrace who I am. She is my rock, she is my backbone. It’s the strong sense of perseverance that she’s given me that’s really allowed me to be myself and to be as open as I’m being today.
J: For myself, I have an amazing, supportive, loving wife as well, and a 7-month-old who is not supportive yet, but I’m sure in time she will be. My wife is incredible. She’s been with me every step of the way. Our wedding was about 2.5 years ago, so she married me well aware of the condition and the prognosis. Honestly, it’s so great to have someone in my corner that I can rely on. Me and my brother are both really fortunate not only with our wives, but also the family we grew up in. We have amazing parents and two siblings who don’t have the disease, and we’re extremely close with our cousins and aunts and uncles, so we have always had a great support system around us.
Above (left to right): Jonathan and Michael Tutnauer and their children
G: That’s great, and it leads us nicely into our next question: Michael, during our earlier conversations, you shared with me that there was a family history of retinal disease, beyond Usher syndrome. Can you share more about your great uncle’s connection to this research area and how retinal disease has impacted your family?
M: Yes, absolutely. My great uncle, Bernard Gevertzman, was just an unbelievable guy—charitable, sweet, always ready with a joke when we were feeling down. His mother was diagnosed with eye cancer in the 1940s and miraculously lived many years after it went into remission. She was extremely self-conscious about it because she had to wear an eye-patch for the rest of her life. Bernard was a very devoted son. His mother lived on the Lower East Side and he never moved away from the area because he always wanted to be close to her. That’s where his interest in supporting research on eye disease began. From the time he found out that my brother and I had RP, he was always very involved. My dad connected him with the FFB early on, and we knew he would send a check here and there. Actually, we only just discovered after he died that it was weekly checks, not just an occasional donation here or there. He was very humble. After we got our USH3 diagnosis, the only thing he asked was “how can I help?” By that point we had gotten the recommendation from Dr. Scholl about the Usher III Initiative, so we told him about it.
He was always thinking about me and my brother and how to help us and the community at large. That really was his legacy and he lived it. He only passed away a few months ago and we miss him very much.
G: I’m very sorry for your loss. Thank you for sharing this story with us, it’s really beautiful.
Above: Michael and Jonathan’s late great uncle, Bernard Gevertzman, an ardent supporter of finding a cure for USH3
C: Like my family, it seems that yours saw your diagnosis as a call to action. Can you talk more about that? There are such limited resources in this area, how did your family make decisions about how to get involved, other than through Dr. Scholl? How would you advise parents of children with USH3 or adults with USH3 to get more involved and become activist patients?
M: What my parents did for us more than anything else was to get educated on the disease. My dad was an accountant and he always said, “there are a couple of things I know really well: accounting, Rutgers Basketball and retinal diseases.” So, whenever my brother and I had to go to Mass. Eye and Ear, whether for check-ups or because we were in a study, my father would always come with us. He would always have answers ready for our questions. Whenever there was a new patient in the waiting room, my dad would always talk to them about what to expect that day, before the doctor even got there. So, to parents, what I would say is that kids aren’t always going to have all the questions ready at once, but if you get educated you will be prepared to share that knowledge base with them when they’re ready and in their own time. For parents of children with USH3, especially for young children, I think this is extremely important.
I was told I had a degenerative eye disease when I was 10 years old. I didn’t even know what the word degenerative meant, but I knew that I had it. When it became age appropriate to understand more about the condition, my dad was there for me to help me understand it. I think it’s important to be able to hear that information from someone who you love and trust, not just from a doctor.
J: I would also add that my dad always tells us that when we were first diagnosed, the retinal specialist we saw before Dr. Berson told our father we were going to be blind within a few years, that we needed to start learning braille immediately. I’m sure that today there are a lot of retinal specialists who would have more accurate knowledge about the disease, but what my dad learned was how important it is to find the leading specialist in our disease field, and not just accept a hopeless outlook. That’s how he found Dr. Berson.
My dad always wanted to be educated on everything that was out there to best help his kids. That’s what I would want to echo to other parents: keep looking at what’s out there. Even if there’s not anything right now, there may an option shortly in the future.
C: I think that’s absolutely right… and it’s funny, I had the same experience. My parents took me out to see Eliot Berson every year, and he was the best.
I think it’s important to also point out that it’s critical for patients to get registered and get genotyped. When there is a treatment, whether the Initiative’s or anyone else’s, there’s no way that treatment can get to patients without the patient registry and without genotyping, so that is the basic level of what patients can do to be activists
M: Absolutely, and in terms of a call to action to adult patients, I would also say: don’t isolate yourself, and don’t suffer in silence. Be an advocate and tell people about this disease. The truth is that no one really knows about it, and if patients are silent about it, no one will find out about it, and it will never get cured. So, the call to action is this: be honest, be open, be comfortable with yourself. It might hurt. It might take a little while. But it’s worth it when you get to the other side.
C: That’s great advice.
G: Absolutely. Thank you. On this subject, I know that you both have volunteered to be part of scientific studies regarding USH3. Can one or both of you say more? I would love to hear how you got involved and what that entailed. Do you know how the research has been used since the data was collected, and do either of you have ongoing check-ins associated with that research?
J: I was involved in a two-year study for a stem cell treatment into the retina for RP. The reason I enrolled was because a lot of this condition is just waiting. Things are getting worse and there’s not much to do about it, and you’re just hoping that something will come along. So, I did think it was important to take part in the research, to help progress it along in some way. As far as the data from that study, I think it's still ongoing, so I’m not sure of the outcome. Regardless, I think it’s really important to do what you can to help find a cure.
G: It sounds like participating in research made you feel empowered as a patient?
J: Yeah, absolutely. Again: a lot of this disease is just waiting, so when you have the opportunity to take a step forward, even if it doesn’t result in anything immediately, it is still helping to progress the community of research, which is very important.
C: I want to shift gears a little bit. Most people focus on what’s lost to this disease, but I actually want to ask you what you feel you have gained as a result of your USH3 diagnosis, whether something tangible or more perceptive, no matter how small.
M: I used to get a little bit down about the USH3 diagnosis, and then I was walking home from work one day and I looked out and I was reading a street sign, which I could still do at that time. Then I looked at a sign that was further away, which I couldn’t read, and I got really frustrated. And then I kind of had an epiphany at that point: this is the best I’m ever going to be able to see. This day today, right now, is the best I’m ever going to be able to see again. I shouldn’t worry about the future, the future is going to happen regardless, so if this is the best I’m ever going to see again, I need to embrace that.
So, obviously what the disease has taken from me is vision and eventually it’s going to take more hearing, at whatever pace it does, but what it’s given me is perspective… a really good perspective in terms of being to embrace the here and now, embrace the day and not let the future or any fear and worries I have about the future curtail or hinder that experience I’m having in the moment… so, I would say that what it’s given me more than anything else, is a greater perspective of life.
C: Absolutely, very very well put.
J: Yeah, and I totally agree with my brother, but also want to add that it gave me a real sense of empathy for other people. When you have vision or hearing problems, people are always trying to help you just to get around, but now a lot of time I find that people come to me and tell me their problems. I think that having these issues and being able to cope with them and try to overcome them gives me a strong sense of empathy and perspective to be able to emotionally help other people with their problems. Normally, I feel like other people are always trying to help me, and it’s nice to be able to help others in different types of ways.
C: Both are wonderful answers and insight.
I’m wondering if you can talk about one or two of your best coping mechanism or tricks that you’ve learned in the process of constantly adapting to this disease?
M: I don’t know if it’s necessarily a coping mechanism, but in terms of adapting: if there’s something I love but feel I can’t do anymore, I try to take a step back and think about it analytically to find a way around the road-block. For example, I played basketball all throughout high school, but I can’t play anymore because the rim is just a little bit too difficult for me to see. So, I got involved in another sport—running— and I ran a few marathons, and that was great. Now, at this point, running a marathon might be a little too difficult with my peripheral vision—I wouldn’t want to hurt anyone else while they’re training for that 26-mile run, so I thought about how to pivot again. I have a treadmill in the house, I’ve gotten involved with Peloton, I run in local areas where I know that I can. The coping mechanism is kind of like undoing a ball of yarn. I guess that’s how I adapt the best.
C: I think that’s called being resilient and adapting with resilience!
J: I think for me the psychological aspect can be daunting at times, knowing that it’s a progressive disease and that you need to be constantly adapting. Everyone has down days, and when that happens, I think: “how would I want my 7-month-old daughter to handle this situation? Would I want her to turn inwards? What would I suggest to her? What would I tell her?” I certainly know what I wouldn’t want for her: I wouldn’t want her to be depressed or down. I would want her to make the best of the situation and constantly move forward.
C: That’s great.
Left to right: Michael and Jonathan at Jonathan’s wedding
G: So, this is a related question: what is your favorite gadget that helps you navigate the world?
M: My phone, by a mile. It’s my magnifying glass, it’s my GPS, it’s my car because I take Uber everywhere, it’s my food ordering mechanism, it’s my present delivery service for my kids. The phone is key, whether an iPhone or an Android — I’m not advocating for one brand or another. I’ve been blown away by what the phone can do and being able to take it everywhere is huge.
J: For me it’s probably not a gadget exactly, but my wife is super helpful. If I could take her everywhere, I would! No, but joking aside, other than my wife, I’d say the phone as well. Every time something in my symptoms change, I find there’s an app to help me with that change. I feel like technology is almost adapting with the progression of my disease, which is really cool.
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C: I would like to ask about your careers and how you navigate the demands of your job with the USH3. You’re both trained as lawyers, but only one of you practices the law is that correct?
M: Yes, so we both went to law school, but my brother found his true passion in clinical research and I ended up with a job in the federal government doing EEO [equal employment opportunity] compliance work right off the bat. That’s what I still do, and it’s what I love. I deal with EEO discrimination cases. In the federal government, before there’s any kind of litigation, there’s something called the administrative EEO process, which individuals need to engage in prior to being able to go to a hearing, and that’s the part of the EEO process I’m involved with at this point.
C: That’s great. And you’re able to use special software and zoom text in order to be able to continue to do your job?
M: Yes, that’s right. There are screen enhancements that almost any PC computer comes with to enhance PDFs and Word documents. Adobe has good reading software as well. But then there are other programs you can get on top of that. I have colleagues that use JAWS [a screen reader that allows people to use a text-to-text speech output or a refreshable braille display to read the screen], and I use MAGic [a screen reading and magnification software for low vision computer users]. Even though I can read with some magnification, my eyes get strained, especially with my work which involves reading a lot of documents, so I use the text to speech software and it’s tremendously helpful.
G: Jonathan, can you speak about your career and how it’s been influenced by your diagnosis? Do you have any insights into navigating accessibility in your profession?
J: I am a clinical trial manager right now. I’ve been involved in clinical research for over 8 years at this point. I’d say that growing up with a rare disease that currently has no cure definitely got me very interested in the clinical research space. After graduating from college, I went to law school but quickly realized I didn’t want to practice law… so from there I tried to figure out what I wanted my career to be. Clinical research made sense to me. I started off as a research coordinator and moved over to the academic/hospital side and then to the pharmacological side. I currently work for a clinical research organization to help carry out their clinical trials. Our focus areas are oncology and rare disease.
Clinical trials are something I’ve always been interested in, and I think that’s what really encouraged me to take part in a clinical trial myself. I was working as a clinical trial manager at the time, and I saw an opportunity where I thought I would be an eligible patient. I had an understanding of the space and I thought it would be a good thing to see what it’s like on the patient side of things.
In terms of navigating my day-to-day work, so far, I haven’t needed any additional software. I know the settings on my computer that I need to be able to work best and I just adapt everything to that. I use high contrast mode, I make the text as big as I can, and sometimes I use the narrator to read emails and text to me.
Georgia: You were talking earlier about gaining greater empathy as a result of this disease. It’s remarkably empathetic to be someone working on the research side of clinical research and then ask yourself, well, what’s it like to be a patient?
I want to thank you both for a wonderful discussion. To end, I’d like to ask what message you want to share with the members of our patient community?
M: I would be remiss if I didn’t bring up my great uncle again. When times were darkest, he would quote the legendary congressman Adam Clayton Powell Jr., “Keep the Faith, Baby.” And that’s what I would tell everybody, keep the faith. There will be some dark days when you’re going through this, but there is light at the end of the tunnel. Everything is going to be ok. Keep a good perspective and a good head on your shoulders and it’ll be alright.
J: I think I would just tell them, receiving this diagnosis, it’s a little unimaginable to picture what it’s going to be like in its totality and it’s easy to feel overwhelmed. For this reason, I think it’s so important to take things one day at a time. You’re a lot more adaptable than you might think. Nobody knows what the future is going to hold, but there are so many things that will change whether you have this diagnosis or not. So, stay positive and take things one day at a time.
C: I’d just like to thank you both so much. Your outlook and resilience are truly inspirational. Also, I really admire that both of you have been so active and taken part in research and engaged this community. I thank you both for sharing your stories with us and look forward to sharing this with the Initiative’s community as well!