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In this episode, since most podcasts “podfade” by episode 7 (and since this is #7 if you count our trailer episode), we honour the podcasts that helped us get started, from the friendly podcasters who offered advice to those who offered air time. A big shout out is due to Carolyn Kiel of Beyond 6 Seconds, Anne Marie Cannon of Armchair Historians, and Mathew Passy of Causepods (links to each show are below this intro).
This episode is special in another way. I explore the difficulties experienced by those diagnosed with rare diseases as I interview my father-in-law, Robert Bellizzi. Bob is the Executive Director and Founder of the Corneal Dystrophy Foundation. He started this not-for-profit organization back in 1998 as a grass-roots patient to patient online support group called Fuchs’ Friends. This platform provides resources that did not exist, trailblazing a platform that enabled patients to support one another. Fuchs’ Friends and The Corneal Dystrophy Foundation now serves patients in over 150 countries and has a current membership of approximately 3000.
2:59 – What it was like to be diagnosed with Fuchs’ Dystrophy
9:06 – Treating Fuchs’ Dystrophy
14:47 – 2% of people over 40 will be diagnosed with corneal dystrophy – is the statistic still correct?
17:46 – A Fuchs’ Friends story of help and support
23:37 – Measuring success running Fuchs’ Friends
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Saving Sight with Robert Bellizzi, The Corneal Dystrophy Foundation
I want to start by acknowledging a few podcasters who have helped me on this journey thus far. Through a few words of encouragement and even introducing some incredible guests. Before I recorded my first episode, I got to connect with Carolyn Kiel host of Beyond 6 Seconds. She tells stories from people’s lives that go beyond the first impression of six seconds. She introduced me to DeAndre Wilson, who you meet in episode five and Rebekah Bastian, Founder and CEO of OwnTrail, a platform that connects women to support one another. I found a lovely historical podcast, Armchair Historians, which is hosted by Anne Marie Cannon. Armchair Historians invites guests on to tell their favorite histories and provides deep dives into all interesting histories.
I also got the opportunity to be a guest on a couple of podcasts. One of those airs before this show does so I’ll tell you about that one. Causepods is a podcast that features podcasts with a cause. There, Mathew Passy invites cause-related podcasters to the talk about their shows. Each episode is brief, around 15 to 20 minutes and you get to learn about so many different causes. I encourage you to check all three out.
We’re going to dive into the world of rare genetic diseases. As we meet our guest, Robert Bellizzi, Executive Director and Founder of the Corneal Dystrophy Foundation. He started this not-for-profit organization back in 1998 as a grass-roots patient-to-patient online support group called Fuchs’ Friends. This platform enabled patients to exchange knowledge about the genetic and practical issues they had with corneal dystrophies. It now serves patients in over 150 countries and has a current membership of approximately 3,000. Welcome, Bob.
Thank you for having me.
You might’ve guessed from the last name that we have some connection. I married Bob’s son, Matt, years ago. I am now the mom of two boys, his grandkids, each of whom could be impacted by this rare genetic disease. Bob, why don’t you tell the story of what it was like for you to be diagnosed with Fuchs’ dystrophy before a patient platform like that existed like Fuchs’ Friends. How did you feel being diagnosed with this rare genetic disease?
I’m strange as far as my professional history went. I bridged the gap between hardware engineering and software. I did a lot of the consulting, where I had to analyze people’s logic diagrams to decide what to do with them. I started to notice that they were giving me ever more poor xerox copies. At least that’s what I thought. I would have to get my sons to look at the logic. I finally got back to my optometrist and he said, “You have cataracts and I want you to go to this ophthalmologist so he’ll take care of cataracts.”
When an infant is born and cannot see, it may never generate the pathways necessary to see later.
The ophthalmologist was quite upset when he took some measurements and he said, “Go home. I’ll call you later. I have to do some work here first.” It was strange. He called me and said, “You have something a rare disease called Fuchs’ corneal dystrophy.” That’s like fox in German. He said, “There’s only one place within this area and that’s the University of California, San Francisco. I’ve got you hooked up with them for an appointment.” Being a geek all my life, I dug into the internet. This was 1998 so there wasn’t much there.
Google didn’t exist at that point online. Yahoo was the big baby. There were only two places, Washington University in St. Louis and UCSF that had identifiable information. Since I was on a slow connection, I set up to print out everything and went to bed. The next morning, I had about 90 sheets of paper and I started reading on it.
Imagine those 90 sheets of paper might’ve also looked like poorly xeroxed pieces of paper.
They came out well. By then, I had some readers. It told me that I was going to the right place. There was a lot of information in UCSF’s considering what little was it any other place? In my first appointment, they said, “You have bad cataracts. Eventually, you’re going to need full colonial transplants. We don’t do that right away. We wait until you’re legally blind because the outcome is so bad. We put it off as long as possible. You’re replacing your optics. The majority of it with somebody else’s optics. This is not a good thing. They’re subject to a lot of problems, infections. They can be destroyed easily with small blow.” We said, “Could you do cataract surgery?” They said, “It’s chance-y and we don’t think that way.” After two years of not being able to drive after that, my wife said, “Let’s push them harder.”
It’s time for you to be able to see.
I’m tired of driving. We pushed them and they said, “There’s an 80% chance of success.” We said, “Let’s do it.” It worked out well. It was just what we needed.
I know that with diseases like this, where the treatments are advancing over time and part of the reason they may have even asked you to, “Delay it as long as possible,” is the treatments invariably improve with time. At the time that you had the surgery, what year was it then?
My surgery was done in 2007 and 2008. By that time, what they call partial corneal transplants, where they just replaced the offending layer of the cornea rather than the entire cornea was somewhat along. It turned out that by forming the online group Fuchs’ Friends and getting the patients together, we also started communicating with the top surgeons, the experimenters, the people who cared about what they were doing and kept trying to advance state of art.
We had documentary evidence of the fact that we pushed this hard enough that it propagated through the worldwide community faster than any other ophthalmological improvement because our members would talk to their specialists. He’d say, “You need a transplant.” They say, “A partial transplant.” He said, “I’m not doing that.” They would say, “We know people who were doing it. We’re going to go there. If you don’t learn how to do it.”
You push from the bottom, essentially.
We pushed from the bottom and that’s been acknowledged.
I’ve learned a little bit about this just over the years of knowing you and doing my research. The things that intrigued me most about where we have been and where we’re going with, the types of surgeries are doing have to do with the reduction in the invasiveness of the surgeries. Back in the day in ‘98, what they were mostly doing was essentially stamping out that portion of your eye, putting in a new piece and stitching it all around where there was a lot of scarring. The outcomes weren’t as good, rejections and infections were high.
This little incision on the side of the cornea, scraping out the old layers, putting in the donor and now, even advances going further where it looks like they’re looking at injection possibilities. One of the questions I have for you being that you’ve seen how far this technology has come in a relatively brief amount of time, what do you think it will be like for people in the future? Let’s say, one of my kids, your grandkids, ends up having Fuchs’ dystrophy. How do you think treatment will be then?
I go for a six-monthly checkup at UCF with the same surgeon. He’s a researcher. My fifteen minutes with him usually turns out to be a conference between him, Monica, my wife and myself for an hour to an hour and a half. The goal of the surgeons is to put themselves out of business. The natural progression for the particular corneal dystrophy I have if I had normal cells would last until I was 135 years old. I wouldn’t have enough to maintain what it’s supposed to do. Our cells die off faster and they do not replicate after birth.
The goal is to try to continue with healthy cells for as long as possible to avoid surgery. That’s what they’re trying to do. There are a couple of intermediate steps after a partial corneal transplant where they simply scrape away the disease cells. They tear it off. It’s a tiny layer of one so thick. They wait for the cells from the periphery, which are healthy to propagate into the center. Now, that only works for some percentage of people. They’re very strict about who they try this on. It’s called a big, long name.
DWEK. I get it. I’ve seen DMEK as another recommendation.
It’s stripping without a donor tissue being inserted, that’s one. There are clinical trials going on. There are probably 40 or 50 around the world of centers that are working on this. There’s one in particular that has the highest record than anybody. He’s one of the high performers with partial transplants. It turns out people who excel, excel all the time. They continue to amaze me. The second one is from a company called Trefoil. It’s something called a fibroblast growth factor that’s naturally occurring in the cornea.
It aids in healing the cornea when there’s trauma or incisions. They’ve re-engineered FGF-1 to call it EFGF-1. They put it in a solution and they’re running trials where they give a series of four injections into the eye over a period of four weeks. It causes the cells to replicate. The problem with replication normally would be that the cells don’t stop and they jumble up on top of one another. That layer doesn’t do what it’s supposed to do then, it defeats its purpose. Apparently, they have a stopper in there that recognizes when it looks like a beehive, a nice row of hexagonal cells, all interlocked one would say.
It’s like a honeycomb.
The top doctors and top specialists all publish and do research. They take tons and tons of data points for every surgery that they do.
There are clinical trials. We’re encouraging our members to work with both companies that are doing this. The issue is that these are in clinical trials are either triple or quadruple blind. That means that at least a portion of the people is going to get a placebo, which has no effect. In the Trefoil case, they are trying three different strengths of their product plus a placebo so 1/4 are going to get a placebo and we don’t know who they are.
That’s better than half. A lot of them are done that way.
The Kowa is testing with DSO or DWEK and they’re using something called K-321, which is a rock inhibitor and it does good things what is needed. Their rock inhibitor tends to encourage cells to move from the periphery into the center. When the cells are stripped, they are hoping that it improves that migration. However, COVID caused a big problem in international shipping. Number one, you’re not allowed to ship into the US. They can’t get that. It hasn’t been approved officially for safety in the US. That’s why they do in trials. We’re encouraging people to go with that. The biggest stopper is that there’s a placebo. Some people don’t want to try.
Understandably, they want a treatment that’s going to help them.
It’s interesting to watch the nature of the group change. Our group, when we started out and we try anything because there was nothing much out there. Almost anything could be better. We pushed on this stuff. It’s difficult to get people to understand how delicate these operations are. How delicate manipulating the cells, the genetics are. That they are so privileged to be able to get in on this stuff.
Let’s talk about the 2% of people over 40 who will eventually be diagnosed with corneal dystrophy. Is that statistic still correct?
It depends on whose research you look at. I’ve seen everything from 2% to 5%. The other thing is of people over 40. For instance, fairly recent genetic analysis has, Fuchs’ dystrophy was considered to be maybe two variations, the normal late-onset one which shows up about age 50 and later and early one. It turns out that they’ve found eight genetic loci and they all seem to have different propagation levels and initiation dates, ages and stuff. It’s much more diverse that way.
I remember seeing a story of a woman in her twenties that was diagnosed with corneal dystrophy. It was just the shock that came with it because nobody had ever spoken to her about this type of disease. It isn’t something that’s routinely even talked about at a medical office. When I went in for genetic testing myself, when I was pregnant as what they called geriatric mom being in my late 30s at the time, the geneticist I spoke with wasn’t even familiar with Fuchs’ dystrophy. Something sits in the rare disease field. People who are in ophthalmology understand it or gaining a better understanding with time but 2% of a population over 40 sounds like a rather large number to me even if it is a rare disease.
You see, it’s rare enough so that although every ophthalmologist learns about it, while he’s in school prior to being a resident, they rarely ever see a case of it. When they see a case, they don’t know anything about it.
They don’t know what to do or what to recommend.
They just haven’t followed it. Very often what I hear is that they’re not sure whether it’s the cornea that’s causing the issue or if it’s a cataract. If you can’t see through the cornea, you can’t see a cataract and the cornea clouds. There are a number of markers for it. They don’t know what to do about it.
You managed the Fuchs’ Friends group, in particular, to help patients navigate all of these challenges that they encounter when they get a diagnosis. I’ve seen some beautiful testimonials on your site and on social media. I wondered if you could tell a story one that perhaps stands out to you of an individual that Fuchs’ Friends and your foundation has been able to help and support.
The story is a bit unusual. You talked about a twenty-year-old. It’s about several years ago. I got an email from the grandmother of a five-day-old infant. My newly born grandson has been diagnosed with corneal dystrophy because that rang the alarm bell right away. When an infant is born, if it cannot see, it may never generate the pathways necessary to see later.
The infant has to see at birth or very close to birth. There’s a clock ticking on this thing. This was a Saturday afternoon. I saw this, I emailed her and got some more information but I didn’t get the parent’s name. She didn’t give it to me. I emailed a surgeon in the Midwest. I can’t use names on this. They never gave permission.
They’re very private people. I emailed the surgeon. He’s been cooperative. He helped me find people in Israel or surgeons in Israel and all over the world. I figured I’d get an answer on Monday. About 40 minutes later, I got an email from the local university that was putting a team together to handle this baby. I got an email from the surgeon himself and he said he was going to sit in on it too. All they needed was the parent’s permission.
It took me over a day to get the grandmother. I didn’t have the phone number. She didn’t give it to me. I was working by email over a day to get her the contact information for the mother. I got immediate permission. Within a week, the child had a partial corneal transplant successfully. I kept in touch and he had another one at about three months. I checked at one year with mom. He had also been diagnosed with glaucoma. They put a shunt in and controlled the intraocular pressure. He was doing fine. At two years, she said, “I’ve found out what the terrible twos mean.” It’s very normal, just bumbling around.
Now the child has vision and they otherwise would have been blind.
The child is a normal child with two corneal transplants and a shunt to shut off excess pressure in one eye. Kids are amazingly adaptable.
They can definitely pick themselves up and keep running down the street.
Most of the people that I have to deal with personally over the phone are freaked out. They lived all their life healthy. They cannot understand how they got this disease. They claim that nobody in the family ever had it. As part of the previous generation, I can tell you that the generation prior to us didn’t talk about what was not well in their lives. You didn’t find out or it was aging and they thought it was just getting old eyes.
They got old eyes. They couldn’t see as well. They maybe had cataracts that impeded.
Cataracts we’re virtually inoperable on the generation prior to mind.
It was just accepted as a fact of life. A dog got old, they got cataracts and couldn’t see anymore. Maybe that’s it, the same thing with humans.
My mom had cataract surgery on one eye. She was in the hospital in a semi-private room in the bed for a week.
It’s a different world now. You’re outpatient surgery.
Don’t underestimate what happens to your vision or you might end up going over a curb when you think it’s a driveway.
Partial corneal transplants and full corneal transplants are outpatient surgery. You go home, in your car and you lay down. You’re up and down. That’s the story that really sticks with me. We’ve had 3 or 4 cases with an infant and we’ve had absolutely no trouble getting a specialist.
I imagine they want to do it out of this do-gooder center in their hearts. It’s something they could also put in their accolades book. People become medical doctors for a reason typically and want to help the young.
Many of them cannot suffer fools. They will take silly questions. They will help as much as they can, just don’t waste their time because it’s precious. The top doctors, top specialists all publish, do research. They take tons and tons of data points for every surgery that they do. They compare them, they look to see what works and what doesn’t. They constantly are working on improving the state of the art. I’m amazed by these people. I teased them and called them data freaks and they are because that’s what makes them better. They can see what they’ve done.
I wonder if in running this particular not-for-profit, over the years, you’ve touched the lives of so many people and help support them with Fuchs’ Friends as well as through the Corneal Dystrophy Foundation. If you were to give our audience a perspective on how you measured success as time went on and perhaps how you measure that, that would be helpful for any budding potential not-for-profit developers out there as well.
Success to me, in this case, means that no matter what I do and how much help I get, I have to help even more people to work harder because more come in. Success is people recognizing that you can help them and coming to you to do it and get that help. The other thing is the recognition, not obvious recognition but the attitude of the specialists, the top guns, that they have respect for what we’re doing and they appreciate it.
They tell us and the public that. More and more, what we’re seeing is that they recommend that people join our group Fuchs’ Friends. One of the reasons for starting the Corneal Dystrophy Foundation was to expand the scope and cover all corneal dystrophy because there are over twenty of them. Fuchs’ Friends is also open to anybody with any corneal dystrophy. We don’t have members for everyone but we’ll welcome people with them. There’s a lot of commonalities. The surgeons are recommending that the patients join Fuchs’ Friends.
How do people find Fuchs’ Friends? Can they go to the Corneal Dystrophy Foundation’s website and that’s CornealDystrophyFoundation.org?
We have a navigation bar across the top and on there, it says Support Groups. You can click on that and find out how to join.
Those are really simple pathways. That website is CornealDystrophyFoundation.org. If you type a search into Google, it comes up first because they’ve been around for quite some time now and are a resource specifically for patients who have corneal dystrophies. You can find Fuchs’ Friends that way. There is a variety of groups on Facebook sometimes that even mention it or point to it. I’ve seen that myself. You can also connect with the Corneal Dystrophy Foundation through social platforms, Facebook, Instagram, LinkedIn, etc.
I know, Bob, your goal is to be accessible to as many people who might be afflicted with this as possible around the globe. You were talking about an initiative producing potentially, even an app or another technological piece that you could help support other communities with. Do you have an update for that? Is that still a little too new?
The goal is to have a generalized app or web platform that can work for any rare disease pattern after what we do where Fuchs’ Friends is a repository of knowledge, that was the goal. People can talk to each other by phone or by email and they benefit from that but nobody else does. The goal was to store that information. We discourage one-on-one conversations unless they’re through the platform. This allows a body of knowledge to be accumulated. I hope to get into big data one of these days.
Step-by-step. Every day is a new day.
We’ve got over 200,000 recorded email conversations. Anyway, this is a generalized platform. The germ for it came from a woman in India who has two daughters, one is in the computer business in software and the other one is an architect. She couldn’t find a surgeon and she joined Fuchs’ Friends or the daughters joined for her. They’ve developed big respect for what we’re doing. The one works for a firm in India that does apps and things.
What we’re doing is we’re running a member’s survey. They gave us a lot of questions that they wanted to be answered in text form. I converted it to a survey. I built a process where every group of 150 people that I survey spreads across the entire twenty years. I’ve been getting a lot of answers. Not as many as I want but a lot of answers will be used as part of a guide to design a new system.
I applaud that effort. I hope it goes smoothly and that you have an application the next time we’re able to have you on.
Before we end the show, I’d love you to give a few words of wisdom, any takeaway or soundbite that you’d like to leave the readers with.
I’d like to focus on your vision. Don’t assume that a change in your vision is just normal aging. Never do that. Go to an expert and find out what the problem is, why it changed. To modify that a little bit, an optometrist specializes in measuring your eyes, that is their primary function. They do other tests as a way to refer you to an ophthalmologist who’s an MD.
First has to become an MD and resident in that and then sub-specialty in Ophthalmology. You should have a working relationship with one ophthalmologist and use him as a spring platform for any specialist. Those are the two things. Don’t underestimate what happens on your vision or you might end up going over a curb when you think it’s a driveway as I did. That was my wake-up call.
Don’t hit any email boxes. I want to thank you, Bob, for coming to the show. Reminding our readers, you go to CornealDystrophyFoundation.org. There you can research some more for yourself. You can join Fuchs’ Friends. You can even choose to donate. There are options to do so for one-time or revolving donations. It’s completely member-supported, this isn’t backed by any big company. Let me go ahead and thank you all for joining us.
We invited you to care more about rare genetic diseases in particular. I have a question for you, what rare diseases affect you or those that you love? What support system is available for them? You can donate resources or you can always volunteer to give your skills and your time. The action doesn’t have to be or feel like a Herculean effort. Your action could even be just sharing this show with people in your community or who might be afflicted with a rare disease.
To find suggestions, you can visit CareMoreBeBetter.com. There you’ll find an Action Page dedicated to causes and companies we encourage you to support. I invite all of you to join the conversation and be a part of this community. You can follow us on social spaces, @CareMoreBeBetter, and message us directly here or on our website.
Remember, this show is not backed by any company, much like the Corneal Dystrophy Foundation. If you like what we’re doing and can afford it, you can support the show by donating directly to our site CareMoreBeBetter.com. Thank you, readers, for being a part of this show and this community because together we can do so much more.
- Beyond 6 Seconds
- DeAndre Wilson – Past Episode
- Rebekah Bastian – Past Episode
- Armchair Historians
- Causepods – Past Episode
- Corneal Dystrophy Foundation
- Fuchs’ Friends
- Support Groups
- Facebook – Corneal Dystrophy Foundation
- Instagram – Corneal Dystrophy Foundation
- LinkedIn – Corneal Dystrophy Foundation
- Action Page
- @CareMoreBeBetter – Instagram