Living Fully with BBS: An Interview with Robert Stigile

Rachel Tierney: I would really just love to learn some more about you. So if you could share your name, how old you are, where you're from, and start by introducing yourself a little bit that would be great.

Robert Stigile: Okay. Well, my name is Robert Stigile. And just in case it doesn't come out too well in the reporting and the summary, it's S-T-I-G-I-L-E. A lot of the voice systems tend to spell it wrong. So I thought that I would just spell it for you. I am 58 years old at the moment. I have a birthday next month, so I will be turning 59.

Rachel Tierney: Happy early Birthday!

Robert Stigile: Well, thank you, my wife says it doesn't count, but anyhow. I was born and raised in the Los Angeles area – born in Glendale and grew up between the San Fernando Valley – and so I have lived here in the valley all of my life.

Rachel Tierney: What do you like to do for fun?

Robert Stigile: I really like to go hiking and deep sea fishing. Those are my 2 main things that I like to do for fun. I also am a recently licensed ham radio operator. So I tend to get on the ham radio from time to time as well.

Rachel Tierney: Those hobbies seem like they would take up a lot of your time, so they must be fun. 

Robert Stigile: They do, yes. Yeah.

Rachel Tierney: That's great. And how about for work?

Robert Stigile: For work. I do a couple of things. My main job is an office job. I work for the city of Los Angeles, Parks and Recreation, and I am an office employee, where I answer phones and help people figure out how to maneuver our registration system online and those types of things, like give them information about all of our programs. So I do that as part time, and then I have a few other part time jobs where I have taught technology over the years with people who are blind and visually impaired. Lately I've been working for a company called Ira, that provides visual interpreting to the blind and visually impaired. I actually just trained the new agents to come on board.

Rachel Tierney: Wow, it seems like you're a really excellent resource for lots of people. We're lucky that you're willing to share with us, too!

Robert Stigile: Well, yeah, thank you. I haven't been, how could I put it? Well, I've been a patient of BBS all of my life, but only within the last, I'll say, handful of years have I really become more involved and more knowledgeable about it.

Rachel Tierney: Does that mean you were diagnosed as an infant?

Robert Stigile: Um, no. Well, yes and no. It's interesting that you should ask that because the signs [of BBS] were there when I was born, and so for me — since I was born in 1966, and in those days I don't think they really knew much about things like BBS — I was born with the typical signs of BBS, meaning that I had 6 digits on each foot and hand, and that should have probably been the biggest red flag of anything. But they didn't do genetics then, and there's a lot of things they didn't do, so they just didn't know any better. And then, as a child, I was always overweight, and you would think that would have been another clue as to there's something wrong. But, again, they just didn't know. I guess when I was 11 is when they really first started diagnosing me, which was in ‘77. And that's when I started losing my sight, so that was probably the biggest factor of learning that I had BBS.

Rachel Tierney: Would you say that the vision loss has been one of the biggest challenges of living with BBS?

Robert Stigile: It was in the beginning. When I first started losing my sight because, of course, I didn't know, and well, because of it being RP [retinitis pigmentosa], it's hard to know that you're losing your sight. So because of that, it was hard to know I was even losing it, let alone know that I would lose it completely. So I think the hardest part for me in that timeframe was the fact that I was a teenager and having to do chores at home. And when the chores aren't being done properly, [I was] being scolded for it because nobody knew that there was a vision problem at the time. They just figured I was being lazy, and that was probably the hardest part. Now, if I were to lose my sight, it wouldn't be a big problem, because I have been involved with the National Federation of the Blind for almost well over 30 years, and that's an organization that is a great resource for people to find. Because of being involved in it, there's so many people that are blind or visually impaired, that it just isn't a big [deal].

Rachel Tierney: Right. That's also so cool that you've gone to find that community, and it's great to hear that you feel like you've gotten that support, or at least are able to manage all of that by being in that community, and are probably helping others do the same. What helps you get through tough days?

Robert Stigile: Family. I'm married, and actually, on Wednesday, we're celebrating our 25th anniversary. So it's pretty cool. It's like, all of a sudden, it just kind of snuck up on us – it's like whoa! So [what helps me is] being married to my wife. She is also blind, from diabetes, and being married to her and having her support has been probably the most helpful. And I would also say just my friends and family.

Rachel Tierney: Congrats! Wow, that’s amazing. What would you say is something about Bardet Biedl Syndrome that most people don't know or wouldn't expect.

Robert Stigile: I think the biggest thing that is, is not truly understood, and it wasn't when I was first diagnosed with it, are all the other things that came along with having BBS. I think, and I'm seeing it now in the BBS Facebook [group], and I'm hearing it – I attended a conference last year in Minnesota, and that was my first BBS conference and I know that there's another one being planned for next year, and I'm looking forward to it – but I think the biggest thing that people don't know, and it scares people to death is that they're told – and I think it's partly because the medical industry doesn't know any better – but they're told that a child with BBS is not going to live a full life. My parents were told that, and I'm glad that I didn't know that they were told that. I just recently learned from a family member that back in the day when I was diagnosed with BBS, they said I wouldn't make it past 40. And for some symptoms, it's possible, but I think the biggest thing that families need to know when they have a child that's diagnosed with BBS is that there's gonna be bumps along the way, ‘cause I think the biggest thing is is the health issues. It depends on what, I know it's not the right term, but I'll call it version of BBS, like BBS1 or BBS6, and I think that, depending on that, there are different health issues that one might have. And that's, even if you didn't have BBS, that's why there's gonna be things that one may come across. But I think that the biggest thing that families need to know is that, for instance, for me, I've been working. Like I said, I go hiking, fishing, and do all the things that I love to do. And I’m working. Even with blindness, there's absolutely no reason that anyone with BBS or not, or any other health issues that they may have, can’t live a full productive life.

Rachel Tierney: Right, absolutely, and it's amazing to hear how many different things you're involved in, and all of these accomplishments that you have.

Robert Stigile: I don't let anything stop me.

Rachel Tierney: Exactly. And I'm so glad that we're able to hear more of your story, and [how you are] navigating these different obstacles, but also using them to build community and shape your life the way that you want to live it. It's really amazing to hear.

Robert Stigile: It is. I mean, I travel! And in a couple – seems like yesterday we were talking about it – in a few months, but it’s gonna be here quicker than we know it, my wife and I will be [traveling]. Our organization, The National Federation of the Blind, has a convention every year in the summertime, and this year, it's in New Orleans in July, so we'll be traveling to that, and then, you know, there's um there's a conference I'm going to in Minnesota in in September. So I usually travel, whether it's for our organization or for pleasure, usually a good 4 or 5 times a year.

Rachel Tierney: That's great. Wow! So, to [start] to wrap everything up – I want to be respectful of your time.

Robert Stigile: Oh, it's okay. I've got nothing to do today. Hard to believe that I don't have some meetings or something.  The other thing that I do is twice a week — normally, on average every day — I try to get in anywhere between 7 or 8 to 10,000 steps walking. The past few days, I haven't been doing that because my guide dog is suffering from an injured paw, so we've been taking it easy. But then twice a week I have an exercise class that I do, working out with weights and stuff. So I'm constantly exercising because one of the things with BBS, as you I'm sure are aware, is the weight issue. And I have been overweight for who knows how long? I started the Imcivree medication a year ago, and between that and walking and my exercise classes, I have so far lost 50 pounds. I have a ways to go, but I can't tell you the difference. It's like, lately I've been having to buy new clothes, because my clothes don't fit me anymore. Which is a good thing to have to buy new clothes, but, like I said, it's mostly between the exercising and the medication of the Imcivree that has really helped me to be able to lose some of that weight. I’ve never been able to do it before.

Rachel Tierney: That's amazing. And we did just get exciting news that, I believe in Canada, Imcivree is becoming widely available. And um, it seems like it's been a really incredible tool.

Robert Stigile: Darn I thought you were gonna say something different!

Rachel Tierney: Oh, sorry!

Robert Stigile: I know, but and even if it were true, I know you probably wouldn't be able to say it anyways, but I know a lot of us who are blind – andI know that this is something that is being worked on. But of course there's no date as to when it will happen – but I know that there is a pill that is being worked on for the Imcivree medication instead of the injection for those of us who are blind. We're like, “Yes please!” And I thought when you said that, I’d be like, “Yes!” But no.

Rachel Tierney: I wish I did have that news to share, but as soon as we do, you'll be the first one that I tell!

Robert Stigile: Yeah, I know, but I will say, though, that for the medication to be unveiled in Canada, and anywhere else it can be unveiled, I think, is just a fantastic piece of news. So I started the medication in – I guess it's been 2 years now – so December of ‘23 is when I started it, and since then, like I said, I've lost 50 pounds. I used to go to the dinner table, and there was [never enough] for me to eat. I mean, you could consider it as 2 meals. I never had a full feeling. And now, I'm eating half of what I used to eat, and I'm full. And growing up as a child, it was hard for me because I was always overweight, and we didn't know that that was an issue of BBS at the time, because they just didn't know a lot. But I was always overweight, always being teased at school, and always getting into fights. A lot of it was the [obesity] and the blindness. And kids are cruel. So they were always picking on me. Now, looking back, we know what caused those issues, but it's too late now.

I guess that's the thing that I'm really thrilled [about] for families now that are having their child diagnosed with BBS, because they have the opportunities that I didn't have growing up, meaning that there's the medication that they can get their child on. And then I guess that's another thing that I really want to stress with this is that I see it a lot in the BBS Facebook page, either adults who are on [Imcivree] or families that are getting their children on it, and the first thing I see them say is it's darkened their skin – especially for kids – and they don't want to be on it anymore because they're getting teased at their school.  But to me, if you can just hang in there and get past the [side effects of] darkened skin — if they can just get past that — the doors that will open for their children not being hungry all the time are just incredible.

Rachel Tierney: Do you find that now that you're able to manage those systems, it's given you the [capacity] to focus on other things that matter to you?

Robert Stigile: Oh, yeah, I definitely believe in that. Yeah, because I mean as an adult, I'll sit down for food and you know that you should stop when you're full, but you just don't, so it's like constantly eating. But unfortunately, as a child, you don't think of those things like, “I'm going to get sick from overeating.” But when you don't have to think of that, and you know you can think of other things you wanna do from the time that you back away from the table and don't have to worry about food anymore, it's incredible the things you can do.

One of the other things I didn't mention is that I love sports. I love to listen to baseball, football, basketball, hockey, and of course all my favorite LA teams. And so, now that I can concentrate on listening to the game on the radio, and I [don’t] have to think, “Well, I gotta go eat something,” I can concentrate more on the game I'm listening to or go outside for a walk instead of thinking, “Well, I need to eat.”

Rachel Tierney: Wow! Thank you so much for sharing all of this. I really appreciate it. And it's really amazing to hear, as you've moved through the different stages of your life, how you've been able to manage different symptoms. And hearing your story it’s definitely, you know, it's a huge success story.

Robert Stigile: So can I ask you, how did you get involved with BBS? Do you have children that have it?

Rachel Tierney: Of course you could ask me – you can ask me anything. I actually know Tim Ogden [BBSF President] personally, so I've known him and his son Nathanael with BSS10 for about 10 years.

Robert Stigile: Wow! Okay.

Rachel Tierney: And so when I graduated college and was looking for a full-time job the BBS Foundation was receiving a grant from CZI that we've been able to use to build organizational capacity, and that's how I was hired. So I've gotten super involved in what feels like such a short amount of time. I've been working here for about 6 months now, and I feel like I've learned so much about the syndrome that I had never heard of, besides knowing Nathanael. And so it's been amazing to see even how much progress has happened in the past 6 months in terms of research and awareness, which is really the goal [of the foundation].

Robert Stigile: Oh, that's cool. Yeah, [The Foundation] had the BBS Walkathon last October/November, and my friend Tiffany, and I did, I wanna say it was like 400,000 steps in the 2 months.

Rachel Tierney: Wow! My goodness, that’s a lot of movement.

Robert Stigile: Yeah, it was. My friend Tiffany and I – it's funny, because she was not diagnosed until the last couple of years. And we've been good friends for eons, and I kept telling her, I said, “You know, you have all this.” People used to tease us that we're brother and sister, because she has all the symptoms of BBS, and so I said one day, “I wonder if you have BBS ‘cause you have the symptoms.” Like me, she was born with extra digits and overweight and stuff and I said, “Have you ever been tested?” And she's always like, “No!” Well, there was one day she was in her doctor's office, and she finally said, “Can I get tested? I want to see.” And it came back, and sure enough, she was diagnosed with BBS. It's like, I knew it!

And it's funny, because they say that BBS is so rare, and yet I know at least 5 or 6 people right here in California that have BBS. Of course, I'm sure you know Elizabeth and her sister, and so that, and you know, of course, Nathanael doesn't live here, but we've gotten to meet him. He's involved in our sports group now! So there's a bunch of us that do the sports group every Thursday. So it's just interesting to see, you know, they say it's so rare, but there's always people popping up having BBS.

But anyhow, I'm glad to do this. And if there's any other information you need, I'm happy to give it. Since my dad passed a couple of years ago and my mom before that – they weren't married – but it was just… you know. I look back at it now, and I know my dad didn't know as much as my mom did, but I wish I could go back and ask them questions. Because now that I've really started to get more knowledgeable about it and involved, it’s like if I could just ask them some things that they never told me. Well, I wish I had, you know. However, I don't know if I wanted them to have told me that I was expected not to live that long.

Rachel Tierney: Yeah, I know that would be a tough thing to hear.

Robert Stigile: It would. Yeah, of course. I mean, my wife grew up with that too, because — she's a little older than I — she has Diabetes, type 1, and it was always said that she wouldn't live past 40 because of Diabetes. And back in those days, they didn't have enough information on what to do or how to treat Diabetes. And here she is now in her sixties. It's like live and learn. They just didn't know enough, and I'm glad that she's lived that long, because, you know, we're celebrating 25 years of marriage, so it's like, thankfully.

Even with Diabetes or with BBS, that brings other health issues, too. There's always going to be something, and I think that's what families need to realize. Because I know some of my friends have kidney problems with BBS. Thankfully, I don't, but I have hearing problems from the BBS and I wear hearing aids and that's affected me in a way, because things that used to be so easy to hear are not now. But as I said, there's gonna be so many different things that are affected by either BBS or other health issues that you just have to learn how to get through it and live your life.

Rachel Tierney: Right, absolutely. Just kind of a last question to wrap things up a little bit. And I know you've already shared a lot of guidance — I 'm really grateful that you have so much wisdom and are willing to share it — but if you had to give some advice to somebody who has just been recently diagnosed, or maybe who has a child who has just been diagnosed, what is maybe the first thing that you would tell them?

Robert Stigile: I think the first thing that I would say to them is get involved in the BBS community because there's so many people that have been living with it for so long and have tips and tricks and resources, and doctors are there. If they go to the Marshfield – which I have not been to, and I'm thinking about it – but if they go there, they're going to meet doctors that know BBS, and if their child is newly diagnosed, I would say that's probably the best thing to do because the general population of doctors just do not know anything about BBS. And that is the hardest part I think about having it — it’s having to educate the doctors. They should already know what they're treating you with. And that's why I say get involved in the BBS community, because whether you're a newly diagnosed adult or your child is newly diagnosed, you're not gonna find the answers you're looking for with general medical practitioners. You're going to find better answers and better resources by being involved in the BBS community.

Rachel Tierney: Right. That's a great answer. If there's anything else you would like to share, or that feels important to you? Obviously we welcome everything you have to share with us.

Robert Stigile: Yeah, I think the last thing I would say, besides getting involved in the BBS community for resources and networking, is that it is important to attend – and I know that they just started back up again because of the COVID era, and so forth – but I would say one of the things that is probably the the most important is attending the Regional Gatherings as they occur, because you'll gain insights and information that is valuable there. And then I guess I would say for people who are newly diagnosed, that they just need to know that – and it goes with any health issue – it's not the end of the world. There's so many things that you can do, and can live the life that you are living. There's no need to think you can't work or to think you can't go out and play, or do the hobbies that you like to do. And I guess one of the reasons why I wanted to share my hobbies is because I want people to realize that there are so many things you can do, even if your loved one has lost their vision. And if that's the case, which I know RP is the biggest denominator of BBS, I would say get involved with a blindness organization! The National Federation of the Blind is the one I chose, but there's also the American Council of the Blind and they have great resources for families with people with blindness issues. So I would say, get involved and find hobbies that you love, and realize that, whether it's indoors or outdoors, there's nothing you can't do.

Rachel Tierney: That's amazing. I feel like I've even learned so much from you already. So I really appreciate your time.

Robert Stigile: Oh, good! You're welcome. Yeah, I'm glad I could do it so anytime. And if there's ever other things that you want or need to do, if I can do it and I have the information, I'm happy to because I want people to have the information and the knowledge. And I know there's others out there that may have more knowledge than I do, and I've lived with it for a long time but truly have just gotten into knowing really more about it over the past 10 years, but hopefully others are happy to share, too. Whatever I can share, I'm happy to share.

Rachel Tierney: Well, thank you so much for that. I really appreciate your time.

Robert Stigile: You're welcome.

Rachel Tierney: And I'm so grateful to have met you in this way, and I look forward to talking more in the future.