The Loneliness of an “Orphan Disease”

Luisa Recchia: Aria is our guest and she is here with her mother, Lisa Lovasco. The PRRF mission is to support the community impacted by blinding pediatric retinal diseases and champion the quest for cures through innovation. I wanna give a special thank you and shout out to our family advisory committee, but we represent seven rare diseases in that space, and many of the family advisory committee members are here with us this evening so I wanna thank you all for your continued support. Please visit our website at wwwpediatricrrf.org. As I mentioned, you’ll get a recording, so don’t worry about taking notes today. It’s about just listening in and waving to our guests here. Sign up for our bimonthly e-newsletter on our website. That’s the site lines that I mentioned just a few minutes ago. You can also connect with us on Facebook, @pediatricrrf or connect on LinkedIn @company pediatricrrf. And the most recent launch is our Through Our Eyes podcast. Please, if you have not listened to our podcast, you will find a link not only on Facebook, but also on our website. You’ll see some fantastic material also on our podcast.

LR: We launch that twice a month in hopes that in the future, hopefully that’ll grow even more, but you’ll find material interviews. It’s just fabulous. PRRF is a 501C3 charitable nonprofit organization. Again, real quickly, the disclaimer, this event is for general information purposes only. It does not constitute the practice of medicine or the delivery of medical healthcare services, including the giving of medical advice. No doctor-patient relationship is formed. The use of this information and the materials contained in or linked to this website is at the user’s own risk. The content included in this webcast is not meant to be a substitute for professional medical advice, diagnosis, or treatment. Viewers, listeners should not disregard or delay in obtaining medical advice for any medical condition that they have and should seek assistance of their healthcare professionals for any such conditions. So with that said, again, our workshops are designed for our presenters to really share experience. So it, this is living experience. They’ve actually lived through some of these, through what they’re gonna talk about. So it is in theory, it’s just, it’s actually what’s happened. So I welcome you all this evening and I’d like to now present to you Lisa Lovasco and Aria Lovasco. Welcome.

0:02:47.7 Lisa Lovasco: Hi.

0:02:48.7 Aria Lovasco: Hi, Tina.

LR: Hi.

0:02:52.4 AL: That’s exciting to see your cousins on the call with her.

LR: Very nice.

0:02:57.9 AL: Hi Lisa and Aria.

0:03:00.3 LL: The picture on the screen is from the First Hope for Vision Walk, and that’s when Aria was the honored hero. But just to give a quick recap, when Aria was about 10 weeks old, that’s when we started kind of becoming a little bit more concerned. We were moving past, when they’re doing all the googly-eyed baby things in the beginning, Aria started having a very, like rapid back and forth eye movement, and it seemed to be increasing in frequency, and I wasn’t overly concerned. It was bothering my husband, but there was a day that we were sitting around the kitchen table with my parents and my brother and I was holding Aria, and we all watched her eye. She was focused on one of us at the table and just her left eye kind of just drifted from top to bottom. And that was the first time I was like, okay, I can tell that’s not normal to see her eye do that. And so we made a visit to go see her pediatrician. And at the time, he examined her in office and said, I don’t see anything out of the ordinary. I’d recommend wait till at least about six months. But we felt too funny and pushed to see an ophthalmologist. So that’s when we were sent to see Dr. Ed O’Neily, a pediatric ophthalmologist who was wonderful and has since retired.

0:04:22.5 LL: But when we went to go see him, that was the first… That’s when the real concern started to set in. So he had us in the office, and I’m not exactly sure how he did, but he took a photograph of her eye and he then displayed it on a computer screen for us to see. And when he did that, and he started explaining and he was showing us her eye, and all these spots were all over the picture. And he said that those were areas of abnormalities in Aria’s eye. And I was kind of looking at it and going, wait a minute, the picture you showed, it’s a whole eye. The whole picture was speckled. So that was kind of… Dr. O’Neiley then at that moment goes, you know what, I’m gonna step out of the office and make a quick phone call. So he called and then got us connected with Associated Retinal, where we were seen very quickly for the first time by the wonderful Dr. Tracy, and that’s when he had given us a few different scenarios of what we were potentially dealing with. And we were seen about a week later by Dr. Capone for Aria’s first exam under anesthesia, and that’s when she received her official diagnosis of FEVR.

0:05:36.9 LL: So for us and our family, we don’t have any history of any sort of retinal or eye issues whatsoever. When I had that first visit with Dr. O’Neiley and went to go see him that day, I wasn’t even very overly concerned. Even after seeing her eye drift, we have a few family members who have a lazy eye and have had surgery for that. So I knew I was bummed thinking that that was something that she was gonna have to deal with but I know that that can be very correctable when caught early and that sort of thing. So I was not expecting it to develop into so much more than what I guess I really initially thought that we were dealing with.

0:06:16.3 LL: So from that point, and again, I kind of wrote about, it was kind of a tough time, just get, like I said that it was a totally out of the blue diagnosis. I didn’t any family or friends who were dealing with similar circumstances. So Aria’s earlier years involved a lot of doctor’s appointments and occupational therapy and physical therapy and different teachers. So a lot of extra appointments and things. Can you talk yet? Yes, you’ll get a chance to talk. So I was just home alone. Pasquale was back to work and was really just on top of getting used to all the new mommy things. He was probably overwhelmed by the fact family and friends would reach out and check in and see how we were doing with everything. But I just didn’t have somebody to relate to who was going through similar circumstances as far as what we were starting to encounter with Aria’s vision and FEVR diagnosis.

0:07:08.4 LL: So I think very very early on, I reached out to Dr. Capone to find out how I could get involved in different things. I really wanted to talk to other mothers, find other families. And at the time that I had first encountered Dr. Capone in the organization, it was Ropart at the time. So I got to participate and I believe that was a golf outing and know some of the people from the organization and I guess started getting involved from there. So that helped me to kind of work through what I spoke about in the article as just kind of a feeling of loneliness. Having one of these rare, rare, rare diseases, you’re just not encountering other… It didn’t really… Other than maybe being in the waiting room in the Children’s Surgery Center, you’re not encountering other parents or families. So, which now at Aria’s age has really kind of developed into a little bit more of a lonely feeling for her.

0:08:06.2 LR: So Heather Lundwall, who’s on the call with us here today is asking, well, basically she says, your story sounds very similar to ours. Have you heard about FEVR prior to your daughter’s diagnosis?

0:08:19.0 LL: Not whatsoever. And we have gone through genetic testing. Our family really, the day of our first appointment, our first exam under anesthesia. And so we found out after having… My husband and I tested and both sets of our parents, that we are not carriers of any of the major FEVR genes. So it really was a completely out of the blue diagnosis for us.

0:08:47.9 LL: Nice. Thank you for sharing that. And Lisa Schwarz says that this happened to our daughter 27 years ago, so in a minute or so… And again, folks, please put anything in the chat or unmute yourself and we’ll make this very, very interactive this evening. Aria.

0:09:04.7 AL: Yeah.

0:09:05.5 LL: Why don’t you tell us a little bit about this picture?

[chuckle]

0:09:09.4 LL: Who is that guy? Is that your dad?

0:09:14.3 AL: That is Dr. Capone.

0:09:17.8 LR: Oh, Dr. Capone. And how about the other photo? That’s a lot of people.

0:09:23.9 AL: That other photo, that is my whole family.

0:09:26.4 LL: Whole faRily and a lot of friends.

0:09:29.8 AL: Well, I wouldn’t really say it’s my whole family. A few were not there.

0:09:33.5 LL: A few were not there but that’s a lot of us. That’s a pretty weird…

0:09:36.5 LL: That’s a lot of people.

0:09:37.4 LR: Yeah. [chuckle]

0:09:41.4 LR: Let’s share a couple of more. What is this one?

0:09:44.8 AL: That was once we had a year that we didn’t have a walk at the place that we had the first one at. So we would go to our house, get a little bit of our family and friends, but we wanna go to our… We would go to our house for a little bit with our aunts and maybe a few of our friends, but we would go to this place that my friend Ashlyn told me about. It’s like a little trail that you get to walk on and it’s a really pretty trail, so we would go there instead.

0:10:28.6 LL: So we had the walk at a little park near the house and then we came back for pizza and cake and made a little party out of it.

0:10:38.1 LR: That’s beautiful, Aria. Look at that. Now what’s this one? Are you getting married here?

[chuckle]

0:10:45.8 AL: No. So at my school they have quite little offers that we get paper from my school and I got an offer, but I guess I wasn’t really paying attention to my folder, but my dad was looking at it to see if there’s anything cool. But he found a paper in there and he kept it. And that was when I got asked for the daddy-daughter dance.

0:11:24.2 LL: By her dad [chuckle]

0:11:27.5 LR: Special. Special. Okay. So we’ve got Jen Farrah who says, Lisa. Hi, it sounds very familiar to us as well. No family history in genetic testing hasn’t identified any gene yet. Dr. Tracy was a blessing to our family. We’re from Pennsylvania and traveled to Michigan every six months.

0:11:53.2 LL: Oh, okay.

0:11:54.2 LR: Thank you Jen. And Alex has a question. He says, hi everyone and thank you for sharing tonight. What age did Aria start to have exams without anesthesia?

[background conversation]

0:12:11.7 AL: I do all my exams still under anesthesia.

0:12:17.0 LL: Yes. So I know it’s different for every kid. Aria actually just had one about three weeks ago. A month ago, had an exam under anesthesia. We still do her annual that way. I know that a kid has to be able to tolerate that. I know that they usually… They do the dye test that involves the injection and we don’t… Aria doesn’t do shots or any of those things yet. So we’re really hoping that maybe by next year that that’s something that we might be able to put behind us. But she’s 8 years old and we have not begun doing them without the anesthesia yet.

0:12:51.3 LR: So listen, Aria, so let me see here. We have Megan Judici says, Katrina, your Facebook group helped me tremendously when my son got diagnosed almost five years ago. If it weren’t for that group, I don’t believe I would have gotten such great recommendation to travel and see Dr. Capone. Now, we have… Let me see.

0:13:15.8 Speaker 4: And just to anybody who doesn’t know, I’m Nicole Katrina Frost who she mentioned, she’s the… I’m not sure of the correct term like the ambassador for the FEVR Facebook page, she maintains that, and she’s phenomenal. She does tons and tons of positivity posts, also very realistic posts about everything she’s gone through with her daughter and her beautiful daughter and her journey. And just an extremely strong mother who puts together a very, very supportive, good thought out information, works very hard to connect everybody. So again, when seeking that connection, we are very fortunate to have a very strong FEVR page.

0:13:51.7 LR: And so that’s bringing Megan to Detroit from Ohio every six months as well to see Dr. Capone. Thank you, Megan.

0:13:58.7 AL: Mm-hmm.

0:14:00.3 LR: Heather, this question is I believe you’re asking a question for Dr. Tracy, who’s on our call today is that correct?

0:14:05.8 Speaker 4: Correct.

0:14:06.4 Matthew: Yes, I’m here.

0:14:07.7 S4: Yes.

0:14:07.9 LR: Beautiful, do you want to go ahead and ask your question?

0:14:11.1 S4: Alisa. I sure do. And Lindsey see your daughter is beautiful. The pictures are still.

0:14:14.3 S1: Aww.

0:14:15.1 S4: Yeah.

0:14:17.0 LR: Thank you so much.

0:14:17.1 S4: Yeah, absolutely beautiful. Yes. I am just curious. My son’s FEVR was found a little bit later. So I just wonder do you think that there will ever be a time where that is screening? I understand there’s more retinal screening done for preemies obviously for the retinopathy of prematurity. But just overall I think, I work in the insurance industry, and so I just think of it doesn’t have to go this far, it doesn’t have to be this bad, it doesn’t have to be this costly to our little ones if it were caught sooner.

0:15:01.6 Matthew: Yeah, I think that’s really a wonderful question. And it’s something that I think we at ARC and I know, I certainly support the idea of universal screening. And the precedent is already there, for example, for hearing, no babies leave the hospital without having a…

0:15:16.3 S4: Correct.

0:15:17.0 Matthew: Hearing screen, but…

0:15:18.3 S4: Exactly. Yes.

0:15:19.4 Matthew: For some reason the push just hasn’t quite been there as much for vision screening. There have been some studies, the ones that I’m most familiar with are out of Stanford, which have looked at Universal Screening, and they pick up a surprisingly high rate of abnormalities, a variety of different things, cataracts and glaucoma and also retinal disease as well. So I don’t think that it is quite there yet, but there’s a growing body of knowledge, which is suggesting that there is a lot of value to that and I certainly would love the idea. If you know any senators who could help push that over the line…

0:15:53.4 S4: I know.

0:15:53.9 Matthew: That sounds good to me.

0:15:55.3 S4: Yes. Well, I completely agree with you, I talked to my dad about it several years ago. My son is 17 now, and doing really well. But I remember saying to my dad, “Where do you start for that?” And so, he also said senator, and then thankfully, my son’s FEVR has been a stable one. I think I’ve just gotten busy raising kids and working and just hadn’t thought about reaching out to senators but I think to your point, you’re exactly right, as far as those hearing screenings the newborns don’t leave the hospital until they’ve had that, and so I would love to see that.

0:16:41.0 Matthew: I would, too, I think that would be amazing. And it could be something as simple as just a photograph. It doesn’t have to be an exam under anesthesia, it could be very straightforward. There are several companies that are even working on non-contact imaging, which would even make this even more of a no-brainer in my opinion. So, I don’t think we’re quite there yet, but hopefully, we’ll be getting there.

0:17:01.9 S4: Yeah, I completely agree with you. And I think too like you said to your point not to advocate for babies to go under anesthesia, or even pharmaceutically dilate eyes, just would a darkened room be brighter maybe.

0:17:20.3 Matthew: Yeah, many of those cameras too are looking at what are called non-mydriatic cameras where you don’t even have to dilate the patient. So as the technology improves, I think that this would be a wonderful thing.

0:17:33.2 S4: Okay, good. And Lisa Schwartz, I see your… Is that something we can work on. I’m totally in and fixed.

[laughter]

0:17:42.0 S4: You can totally count me in. [laughter]

0:17:44.5 LR: And that we’ll take us back to Lisa, tell us about the family advisory committee, how does that help you, and how can we help Heather and the Lisa’s shorts in the world as well?

0:17:54.6 LL: Just like I had kind of just wrote about and touched about or touched on in my story there, for me part of the healing process, there’s so much that is out of my control as mom and there’s so much that you want to do and be capable of. But at the very least, for supporting these causes helps me to feel that I’m supporting Aria in the best way that I can, and not just Aria but all these kids, and all these parents and all the adults who have gone through so much. So just really wanting to support through whether it’s fundraising for the people who are working towards treatments and cures and things of that nature. So I just hope to help that grow and gain more recognition for the causes, there’s some, I’ve always heard of FEVR referred to as an orphan disease. And I know that oftentimes it’s harder to gain funding and things like that. So just hoping to continue to grow awareness of our cause of this foundation, and continue to support their work.

0:18:54.0 LR: Thank you. And Aria tell us a little bit about your FEVR.

0:18:58.7 LL: Speak of when you were young.

0:19:00.0 AL: When I was young, I was born with a disease called FEVR, and but when I was too young to realize that I had it and I couldn’t tell my parents that I could. But when we were done and accurately found out when we were done with all the visit if we went home, but we go to appointment so he can still check them to make sure it’s healthy, but we usually stay home.

0:19:38.0 AL: And I have a lot of friends, but before in first grade, I got to made fun of out of my eye a little bit, but I always had some other friends that I could play with at the park. I try my best to find a friend to play with as soon as I get there and every time I get this many questions. So every day and even at school, but even the friend that I told them, they keep forgetting they say, so they just do it again. I don’t like when they ask the questions, it’s really tiring when this eye hurts when I’m paying attention to too many things, when I watch too much TV or just stare too long, my eye starts to hurt. So I would go to the couch or the bed and shut my eyes for a little bit because it would hurt for all of it, since this eye only does all the work, the other eye can’t help. So every time that happens, I do, but in the water, it doesn’t bother me.

0:21:14.7 LL: No?

0:21:14.9 AL: No, it feels really good in the water though, and…

0:21:18.2 LL: Okay. Well, let me ask you some questions then? I think Miss Louis has got a couple of more questions for you.

0:21:23.8 AL: Okay.

0:21:24.7 LR: Well, thank you for sharing, Aira, and I only ask this many questions, okay? Not this many.

0:21:30.7 LL: Yeah, well, let’s tell her that. I think that’s one of her more recent frustrations, is just that she gets a lot of questions and she says… What do you say? Every time I meet somebody new…

0:21:42.2 AL: Every time I meet someone new, they always say the first thing, right when I get to them and how I’d… And then usually at school, I also get weird faces pointing at me.

0:21:58.9 LR: But then what do you do? You just… You tell them what?

0:22:01.7 AL: I tell them something and then I go quiet.

0:22:05.5 LL: And then you go quiet.

0:22:07.7 AL: I have other friends that do understand that I don’t need reminders and that is Sia, is the only one in the school that never asks me.

0:22:19.7 LL: She doesn’t ask you the same question?

0:22:21.7 AL: No.

0:22:22.4 LL: So yeah, I think this has been the start of a little bit of a tougher year for Aira, ’cause they just think she’s probably grown in her awareness a little bit more about her disease. And I think one of the big things that she’s really started to ask me is… Well, or say to me is, she doesn’t feel like there is someone else in her school or someone else in her neighborhood like her. And had asked me a lot of times like, “Ma, can you set me up a play date with somebody else like me?” And that’s frustrating as a mom, ’cause I can’t able to do that for her.

0:22:54.2 AL: And at Disney, we did see someone that had a closed eye, but it wasn’t the same disease.

0:23:00.0 LL: It wasn’t the same disease, but you guys were sure excited to meet each other, right? Mm-hmm.

0:23:04.5 LR: So Aira, what do you wanna tell the kids, the parents who are on this call tonight about FEVR? What advice do you have?

0:23:13.7 AL: After you have your big appointment, it doesn’t really bother anymore and that it’s good under water.

0:23:25.3 LR: And that it’s good under water, huh?

0:23:28.5 AL: Yeah. [laughter]

0:23:30.2 LR: Alright, so would it help to match kids up with an older buddy who has been through this?

0:23:39.2 LL: Would you like to talk to some older kids who have been through this?

0:23:41.9 AL: Yeah.

0:23:42.8 LL: I think that would be great.

0:23:43.8 AL: That would be fun. Alex says, I remember asking the same things for my daughter. Alex.

0:23:53.0 LR: You’re a good reader. So Alex says, thank you Aira for sharing your story. Lisa, What activities does Aira do? Our daughter, Maya is five and diagnosed over a year ago, and we find ourselves asking, “is this safe?” Even things like PE at school, we get worried, any suggestions?

0:24:16.7 LL: You know what? So we do have Aira, she does wear protective lenses without prescription, but she does wear protective lenses for that reason. This year, she’s doing dance, there are certain things that, yes, we feel like we avoid a little bit, she’s not gonna be probably no softball, no things like that, but she’s doing dance, she’s done swimming, she’s tried some violin, I think we’re gonna that again.

0:24:44.2 AL: Gymnastics.

0:24:44.9 LL: We have tried gymnastics in the past, so whatever she’s open to and interested in. And I’m trying to think, ’cause there was stuff my husband and I kind of looked at each other and said, “Hmm, maybe that wouldn’t be something we’d wanna try.” But right now her things are danced and swim, and she’s enjoying girl scouts too.

0:25:03.7 AL: I’m not in swim. He says, “We would tell him no ball “

0:25:13.8 LR: Do you wanna read that?

0:25:15.9 AL: Yeah.

0:25:16.9 LR: So we keep seeing the chats space, they pop up but they disappear.

0:25:20.5 LR: Yeah, okay. So we were told no hard ball sports, but Kaylee has been a competitive gymnast, she’s totally blind now, but still cheers and sings.

0:25:31.4 LL: Yeah, Aira was talking about that we’re trying to get her at our church, hopefully sometime soon, but it’s not… The days aren’t we working out, so yes, she wants to do… She said she wants to sing with the choir at church or do some voice lessons.

0:25:45.0 AL: I know what’s gonna happen. Questions.

0:25:49.2 LL: Questions? Yeah, yeah, she’s getting… Yeah, but she’s always been very good at dealing with questions, even at the park or anything else, or you always have been. I think it’s been a little bit tougher of a year dealing with some… With questions. But I almost feel like even at her age, maybe kids are more inquisitive or more forward where they might ask question when she was the younger but then they would just move on and play.

[chuckle]

0:26:19.2 LR: Very nice. Well, it looks like you’re skating here. So skating is an option.

0:26:26.8 LL: Yep. That’s something that we’re hoping to do sometime in the fall or in the winter too. We have a cousin who teaches skating lessons. So we’re hoping to do that. Ooh, I see a question.

0:26:36.5 LR: Nice.

0:26:36.8 LL: It says, who is Aira’s favorite Disney princess? Do you have a favorite Disney princess?

0:26:42.3 AL: I have a… So there are two favorite Disney princesses that I have. So I love Elsa and Anna, but I do also like Ariel.

0:26:56.9 LL: You do also like Ariel.

0:26:58.4 AL: I like Anna, Elsa and Ariel.

0:27:00.1 LL: Those are the favorites?

0:27:02.2 AL: Mm-hmm.

0:27:02.8 LL: What about Merida?

0:27:04.2 AL: Yeah. That too.

[chuckle]

0:27:12.2 LR: Very nice. And what do you have here in your hand? What’s over here, Aira? What are you holding?

0:27:18.2 AL: This?

0:27:18.5 S1: No. No. In the picture.

0:27:21.8 LL: Oh. In the picture. That’s at Disney world.

0:27:26.0 AL: It says…

0:27:28.4 LL: What’s in the picture?

0:27:29.2 AL: Oh yeah, it’s a butterfly.

0:27:33.0 LR: Aw. Beautiful.

0:27:33.3 AL: Could you read the question that just came up?

0:27:35.3 LL: It says, what was your favorite ride at the Magic Kingdom? What do you think is your favorite ride that we did?

0:27:48.7 AL: It was…

0:27:48.9 LL: She’s on a blank.

0:27:50.3 AL: It was…

0:27:50.7 LL: They all blur together.

0:27:52.2 AL: Well, my favorite one was the dinosaur one.

0:27:55.1 LL: The dinosaur one?

0:27:56.3 AL: ‘Cause how it’s my… Because of my dad smiling, my mom holding onto my brother, me screaming and my brother’s like…

0:28:06.8 LL: Yeah. It ended up being a scare. That was at the animal kingdom though. I can’t remember… In Magic Kingdom, I can’t remember what I…

0:28:12.9 AL: Oh, Magic Kingdom…

0:28:15.8 LL: Swallow before you talk.

0:28:17.1 AL: Wasn’t that like Ariel one or something?

0:28:22.4 LL: It was Ariel one we went on. Gosh. I’m totally drawing a blank on the rides that were there, but that was the first time. You like it? Would you wanna go back?

0:28:32.2 AL: Yeah. The little planes. They don’t…

0:28:32.9 LL: But you don’t like planes.

0:28:34.7 AL: Give me good luck. It’s 1909. A plane crashed and I was not happy.

0:28:47.4 LL: Oh, Aira, what are you talking about? So tell them more… Maybe tell people more about what our walk party has been like.

0:28:53.6 AL: Our walk parties have been like, “I’m gonna take a giant walk.”

0:28:57.8 LL: But have they been a lot of fun, haven’t they?

0:29:03.2 AL: Huh?

0:29:04.2 LL: And last time… So tell… What did we do last time? We had a bunch of friends there and they had a awesome, a wonderful…

0:29:11.9 AL: Parade.

0:29:13.1 LL: Like a MC for the event like a… Who just… He did a lot of fun games with everybody. Don’t you remember?

0:29:23.1 AL: Oh, the DJ does a lot of fun games until you had to go on the giant hike.

0:29:30.1 LL: Until he had to go on the hike. Well, that was the walk. [chuckle]

0:29:32.7 AL: It stinks.

0:29:34.6 LL: No. But you had a lot of friends who came out.

0:29:38.4 S1: Let’s go ahead and allow… I know we’ve had questions in the chat, but if you’d like, go ahead and unmute yourself and ask a question. Either Lisa, Aira, we’ve got Dr. Tracy on the call and I know a few other folks, but go ahead.

0:29:52.0 Matthew: I have a question for you, Lisa. You had mentioned that someone had asked you to go see occupational and physical therapy.

0:29:58.1 LL: Yes.

0:29:58.7 Matthew: I was just wondering, you know, what age that was. ‘Cause I don’t think that I’d make that recommendation very often. And who it was that sent you and what was your experience? How was it?

0:30:07.7 LL: So, you know what, that’s funny that you say that because that was actually a point in the direction. So I have a sister-in-law who… I have a niece that was born with a disease called Prader-Willi syndrome. And again, it’s a very… I think you would consider an orphan disease. It’s very uncommon. And that was a few years before having Aira. So she was pretty on the ball about telling me, “Lisa. This is who you need to contact. This is what you need to do. This is… ” So she gave me the points in the right direction. So I started making some contacts through the school district and whatnot. So at about nine months, Aira started receiving services and they came to the house and kind of did an evaluation of her and gave me an idea of what things that we should begin progressing in doing.

0:30:57.0 LL: And so that started until she was school age. And then she received an IEP that we’d been working with for pretty minimal services for Aira. But I just… At her age, especially at nine months and we were still doing patching and things like that at the time. We didn’t exactly… Didn’t truly… We, at that point in time, had thought maybe she was seeing some light… Had some light perception, things of that nature. And so I just wanted to work with professionals who might be looking for things that I might miss out on.

0:31:27.4 AL: So they… So my mom, she put a little eye patch on my this eye because I thought I can see in this one. I did not like it.

0:31:38.8 LL: No. She did not like it when she was a baby. And we did the patching.

0:31:42.0 AL: It was terrifying. I couldn’t see a thing.

0:31:44.4 LL: Yes. Eye patching was not an easy thing to do. And then at about a year and a half, Aira did go through about a glaucoma and we stopped patching after that.

0:31:55.1 S4: Got it. Thank you so much.

0:31:58.4 Katrina: Would it be okay if I ask Dr. Tracy a question? Because I have a daughter who’s 28 now. She was a patient of the other Dr. Tracy’s a very long time ago in 1999. And she’s actually patient number three in the paper he published in the year 2000. But I think she was one of the first people he did an enzymatic vitrectomy on. But my question is, does anybody… Now that she’s older and… Does anybody… And we don’t have any FEVR that we know of in our family history. We’ve had some genetic testing done. Does anybody know what the… How about a child with FEVR passing it to their children? Do you know any like… Or what kind of testing should be done or could be done prior to getting pregnant? Do you know? Do you have any long-term things like that?

0:32:49.4 Matthew: So I guess first of all, the question is about inheritance patterns. And so, you know, for FEVR, it comes in every possible way that you could think of, autosomal dominant, autosomal recessive, X-linked, sporadic, it just unfortunately, there’s a lot of different ways that it can be genetically influenced. And in terms of prenatal testing, I don’t think that there is, it can be done more than the panels that we currently have. And we do have some panels, if your daughter has a genetic mutation that has been identified or if that testing was done a long time ago, the panels have been updated. So it may be worthwhile to repeat them to see if something new has come up on the panel, but I don’t think that that gives you a straightforward prognostic result. Does that make sense?

0:33:34.1 LL: Yes, yes, she had some testing done in at Wills eye in Philadelphia. And it was kind of, there were some things that could possibly be related. But again, it wasn’t so straightforward. And wondering how you proceed from there?

0:33:52.1 Matthew: I wish I had a better answer for you. I saw in the chat that someone had done some fetal testing, which can sometimes be very beneficial. But I think a certain level of suspicion needs to be there to warrant the risks that are associated with that. And so I’m so glad for Meghan and her family that that worked out.

0:34:11.8 Katrina: Yeah, that’s great. And I just wanted to make one quick thing, which is, you know, I was in the situation 20 years ago, didn’t know anybody who had a child with FEVR, but I wish I had a crystal ball till now, because for our family, we were fortunate my daughter has stayed stable since she had some procedures done early on. And she is a scientist, she completed her PhD in neuroscience. And if someone had told me that when she was a baby, it would have saved me like a lot of gray hairs.

[laughter]

0:34:40.7 Katrina: So it doesn’t… You can do really well even with FEVR. That’s basically what I was trying to say.

[laughter]

0:34:48.6 LL: It’s beautiful. Dr. Capone, I see you’re on the call. Is there anything that you’d like to share?

0:34:55.8 Dr. Capone: No, I think Matt handled that question perfectly with regard to genetic testing and prognosticating, and I think everybody on the call probably knows that half of the patients who have clinical FEVR end up with genetic testing that is uninformative, right? So it doesn’t mean that they don’t have the disease, it means we haven’t figured out what gene or genes are accounting for the other 50%. I think we tend to imagine sort of one gene, one couple of genes working together, if you will, that are the wrong genes to have that kind of bring you to that clinical place. So Matt is right. We have a lot of genetic information, but it’s not really brought with it the clarity that I think we all aspired to see as we got more and more genetic information. So right now, we have a lot of data that’s often difficult to parse, which I think has been… You know, the experience of a lot of folks that we’ve tested.

0:35:46.8 LR: Thank you. Katrina, I saw that you were… Or is it Heather? Someone wanted to say and or share? Please feel free to do so.

0:35:56.1 Speaker 8: No, I had come off of mute, but I think through listening to everybody, so my questions were answered. Like in my son’s genetic study, there were not genes that were identified. But he’s my middle child. I got stuck in the middle. And so I have an older child and a younger child on either side of him. So I think, when I heard that it was genetic, I think the first thing I was thinking was, “Oh, my gosh, I can’t… I don’t think my heart can take another child with this.” And so they were both tested and were negative for it. And that testing was through the exams under anesthesia. But his genetic study was inconclusive as well. None of the known FEVR genes were identified, and not in myself, not in my husband. But they did find, when I did the same exam under anesthesia that he had done, they did find those same patterns in my…

0:36:57.6 Speaker 8: Again, not to the degree that my son has it. I have walked around with 2010 vision. My dad was a pilot. And so really to be honest, vision was not on my radar. And so I guess that was just my question, was just around that genetic testing. We’ve not had it updated. Do you know, that was 10 years ago, and I heard I think Dr. Tracy or Dr. Capone talk about updating the genetic profile maybe and then Dr. Capone addressing maybe it’s a combination of genes. I don’t think that was anything I’d ever heard before, to be honest, that’s a potential, I guess cause as well. And my son, it’s interestingly so shorts that you talked about that genetic component and pre genetic testing and things like that, because occasionally my son will say, “What, I pass this on? Can I potentially?”

0:38:03.4 S8: And so I just… You know, I think knowledge is power. Had I known that I could potentially carry it without it really expressing itself, I think things would have been different from day one. So I think, just knowing. I told him that the potential for that is there then he and his wife years from now, like after college, after all of that, that would be something, that they would already seek out a pediatric retinal specialist and say, “Hey, I have this and I am concerned.” And like you said, maybe, but without a known gene, I don’t feel like that would be… I mean, maybe in the future, more genes would be identified for that. So I think those were just kind of my thoughts as I was listening and everybody was talking.

0:39:07.0 DC: So just a couple of comments. New genes are being identified on a regular basis. It wasn’t, say we have a genetic panel that I think Dr. Tracy was alluding to a year and a half ago was 270 genes. The current iteration is 330 genes. So our sophistication continues to grow. And I talk about the prospect of a multi-gene circumstances, again, first of all, we conventionally think about one gene, one disease, but in many ways I think we’ve already kind of picked the low hanging fruit and probably there’s greater complexity that lies behind the other 50% of patients who clearly have disease. If you have a child who’s affected and you indeed have milder but similar findings, there’s no doubt that you have the condition. My question is the detective worked to find the genetic basis for it and I’m sorry, I didn’t mean to interrupt. I think someone else is trying to speak.

0:40:00.1 LR: Kathleen, do you wanna go ahead and unmute yourself?

0:40:02.4 Kathleen: Yes. So I think I have a question about our IEP. So my son is just turned four years old and then, so he has one good eye, one bad eye. That’s what people are so called. And then we all know that this disease is pretty unpredictable. And then my question is just for the parents and then the doctor’s suggestion to see if it’s a necessary to seek out Braille for the bad days in the future. And then if any parent here has any success asking for it. If your child has one good eye, one bad eye because my son right now, he’s not behind in anything. And then, so last time I talked to the… Because he’s going to K next year, so last time I talked to the district that they don’t seem that convinced, but I do want him to prepare for the rainy days. Sorry, he’s screaming right now. I’m gonna mute myself.

0:40:57.3 Katrina: This is Katrina. Does anyone mind if I answer this?

0:41:01.8 LR: No, go right ahead, Katrina.

0:41:04.4 Katrina: And I’ll just give you a short, small background. So Kayleigh was diagnosed when she was almost two. And so she still had a lot of vision and when she started preschool we had her evaluated and all of those things. And like I said, I’m gonna fly through this because you don’t need all the minutiae, but when we started her on her IEP program, the school pushed back and said she’s not blind yet. We got a lot of that. And with a FEVR diagnosis, there is a potential and Dr. Capone and Dr. Tracy can obviously add their into what I’m gonna say, but there’s a potential for vision loss at any time because of detachment. But with Kayleigh’s potential, we did go out and see Dr. Tracy before and then we ended up going to California to see Dr. Nudelman. However, we pushed really hard when she was about three to start keen skills.

0:42:00.5 Katrina: And then we added Braille at four and I can help you with some, there’s laws in place for children who have a degenerative vision disorder. And so we were always told informed that if there is a case of a degenerative vision loss, that you should or could go ahead and push for Braille. In Kayleigh’s case, I am so incredibly grateful that I did because as she progressively lost more and more vision, she was relying more and more and on what little vision she did have. And she was giving herself more headaches and more stress on all those things. Kayleigh had her first retinal detachment when she was 10. And between 10 and 12 she is now completely blind. So what I kept telling the school when she was younger is she would have to play catch up because Braille isn’t something that you learn quickly.

0:42:57.9 Katrina: Braille is another language and it takes years to develop their finger pads, it’s a connection between the brain and all of these other things. And I’m trying to run this through very fast. And so if you think about it, Spanish, if you’re trying to be fluent in Spanish, it takes a couple of years to learn all those components and all of those things to be fluent. But not only in Braille are you reading with your fingers and then there’s all these different components to it. So the younger that they start practicing and reading, the better that they will be when they need it in their future. And so now that Kayleigh completely blind and in seventh grade, if you think about it, the homework and the classroom work is faster, it’s harder and it’s more. And so if she were to have to learn Braille now as she is getting more work and it’s harder and all of those things, she would be so far behind. So I am a very big person for, while they’re still young and if they still have vision, to get them into the early stages of learning Braille, get them a TBI as fast as you possibly can. And if you need any help with your IEPs whatsoever, any kind of advocacy, I’m more than happy to help you. Sorry, that was like my short version.

0:44:15.4 Speaker 10: Well thank you. Yeah, because that’s the problem I’m running into and I’m actually a pediatric speech therapist, so I know the special ed education very well, but somehow I’m still somehow meeting the roadblock and then, so it’s very frustrating. I don’t know how to get into that one step because they just said that your son is not qualified. But I do wanna him to prepare. It’s just a extra skill to have.

0:44:40.3 Katrina: But are you on the FEVR support page?

0:44:43.5 LR: I am, yeah, I am.

0:44:44.7 Katrina: Send me a message and then we can take it offline.

0:44:47.3 LR: Yes. Thank you so much.

0:44:49.1 Katrina: I just also wanted to say, Aria, I’m so excited to see you. You’re so big.

0:44:53.5 AL: Hi.

0:44:54.7 Katrina: You’re so big. I know you don’t remember me.

0:45:00.5 LL: They do remember… She does remember our visit. When Katrina was in town for her visit with Dr. Tracy, she had put a message on the FEVR support page and said, “Any interested Michigan families wanna meet up?” And so we did and we got to meet a couple other friends that day and she organized for us all to go to Leader Dogs for the Blind, which is an extremely cool experience. And then we had a Major Magic’s play date later that evening and that was one of the only times we got to meet with some other FEVR families. So we were very, very grateful for organizing and putting all that together and all her efforts on our page. We still got pictures and videos. That’s like the only time she’s been to Major Magic’s. She always reminds me.

0:45:46.0 LR: Thank you. Chuck and Donna, I know you had your hand up just a few minutes ago. What would you like to add? We can’t hear you. Well, while you figure that out, Dr. Capone?

0:45:57.3 DC: Yeah, a quick comment, I think in the interest of balance, I mean, I certainly agree that Braille is like a language and children learn languages best when they are young. And I would just say in the interest of, saying once again, in the interest of balance, FEVR can be a very asymmetrical disease where one eye is profoundly affected. And the other eye is really entirely normal, or with stage one FEVR, which virtually never progresses. And so my point here is, I think the decision about whether a child should undertake learning Braille is likely best individualized to the circumstances of that individual child. And if a child is truly truly essentially likely to remain normal for their entire lives, it may not be the case that it’s worth the effort, the energy etcetera, to go through learning Braille, if a child will never indeed use it.

0:46:46.1 DC: Conversely, if a child has severe disease in one eye and moderate disease in a companion eye, I think it’s an incredibly prudent investment of time. So my point is not to say that anybody shouldn’t have a resource that they need. Please don’t misunderstand me, my intent is only to say this should probably be an individualized decision based on every child’s circumstances. As to whether, again, you and your child and the school system should make the considerable investment that it takes to learn Braille. And I’d be very curious to hear Matt’s thoughts on that topic, as well. Matthew, any comment?

0:47:21.1 Matthew: Actually, I was thinking the exact same thing. I think that decision has to be an individual decision based on the family and the tempo and progression and severity of the disease. But so I couldn’t… I don’t have too much to add there. I think that you’re right on. One of the things that I thought was very interesting, though, and is not brought up as much as learning Braille is a mobility assessment, which is also an mobility assistance, which is also a really important thing when disease severity is rearing its head. So, Katrina, I applaud you for being on the ball. And I think one of the things that I’m learning from participating in all of these phone calls is that the children who are really successful have parents who are very involved and go that extra mile. But in terms of learning Braille, I think that it’s an individual thing, and when you need it, it’s great that you can do it.

0:48:12.4 LR: Aria, I want to thank you so much for being so kind and so good tonight. Do you wanna tell us one more time about this next picture? Let me see.

0:48:22.6 AL: That was so…

0:48:24.4 LL: What is this picture from?

0:48:26.9 AL: So what one?

0:48:29.1 LR:: Okay, let’s go… Yeah, let’s go back to this one, where were you? The water? Is this the water you love?

0:48:37.5 AL: We were at the beach, and we were taking so to say gust. This is a part of my mom’s family tradition year.

[laughter]

0:48:47.1 AL: A picture taking.

0:48:49.6 S1: A picture taking.

0:48:51.6 AL: That, seriously, my whole family hates.

[laughter]

0:48:57.3 AL: And they had to go take like 1000 pictures at the beach.

0:49:02.6 LR: Yeah.

0:49:02.8 AL: It was not good.

0:49:03.6 LR: Memories. Got to document that stuff.

0:49:09.4 AL: No.

0:49:09.9 LR: Okay. Okay. What are these ones from?

0:49:12.2 AL: And so the first one, with my whole family. That’s my brother, Gaetano, he is five years old. This is my brother, he is five years old. This is my brother, he is five years old. This is my mom, she is 30…

0:49:32.6 S1: You don’t have to say that…

[laughter]

0:49:36.9 LR: You don’t have to share mom and dad’s ages. How old are you?

0:49:41.2 AL: Eight.

0:49:43.2 LR: Okay. And what’s going on in this next picture here?

0:49:45.8 AL: That’s my friend Gabby. She’s six or something, and that’s me. And that’s Dr. Capone and me.

0:49:54.6 LR: And you. And dad works at Stoney Creek, right?

0:50:01.3 AL: And dad is…

0:50:03.5 LL: That’s beautiful.

0:50:04.6 AL: Oh my gosh, not now.

[laughter]

0:50:07.0 AL: The battery is running low.

0:50:07.8 S1: Well, thank you for sharing. Chuck says technology has improved over the years for IEPs. You can ask for listening comprehension and working memory assessments. If that helps anyone else on the call. Thank you, Chuck and Donna, for that information. Anyone else who would like to unmute themselves and say anything, please go ahead and do so. Alex, thank you for joining us and who’s the lovely lady?

0:50:34.9 Alex: Who are you?

0:50:35.6 Mia: Mia.

0:50:36.5 Alex: Mia, who?

0:50:38.2 Mia: Mia.

0:50:39.1 LR: Mia, huh?

0:50:39.7 Alex: Say hi, everyone.

0:50:43.1 Mia: Hi.

0:50:43.6 Alex: Say thanks for having us.

[chuckle]

0:50:44.3 LR: Thank you, Mia.

0:50:45.9 Alex: She’s shy.

0:50:47.7 S1: She’s shy? [laughter]

0:50:49.6 Alex: For now.

0:50:51.9 S1: And who’s the young man over there? [0:50:56.1] ____ What is your name?

0:50:56.8 LL: There you go.

0:51:00.0 Gino: Hi.

0:51:00.5 S1: Hi.

0:51:00.9 LL: This is Aria’s cousin Gino.

0:51:02.8 S1: Hi, Gino.

0:51:04.2 Gino: Hi.

0:51:04.9 Daniela: And I’m her aunt Daniela.

0:51:08.2 S1: Oh, hi, Daniela, thank you for joining us.

0:51:11.0 Daniela: Yes, of course. This is so nice.

0:51:12.9 LR: Gino, you’re a great cousin. And who do we have here? Ty? What is your name?

0:51:20.9 Miles: Hi, this is Miles.

0:51:23.0 S1: Hi, Miles.

0:51:24.5 Miles: We hear all was talking about, I can’t even see my screen. I think I’ll ask before we leave, I really want to thank Dr. Capone. So, Dr. Capone, I don’t know if you remember me, I called you during pandemic because I was pregnant at that time. And then my husband and I were trying and then we call them Boston, we follow up with Dr. Mukai. So hopefully that ring a bell. And then so we’re asking your advice for the fetus, the fetal diagnosis, whatever information we could find. And then we really appreciate that because you really… You were on vacation at that time when I called. And then after 10 minutes, I talked to your secretary, you called me from your personal phone on your holiday, and then gave us a bunch of information. That was really, really helpful. And then I never met any doctor who really goes far and beyond like you. So I just really wanna say a personal thank you to you. Finally, I meet you not in person, but over Zoom. Yeah.

0:52:27.2 DC: That’s very kind of you. Thank you so much for the kind words.

0:52:30.4 Miles: Yes.

0:52:32.4 LR: Thank you. And where are you from? Can I ask?

0:52:35.9 Miles: Me?

0:52:36.6 LR: Yes.

0:52:37.4 Miles: So, we live in Boston, but now we’re in Long Island. But for now, we’re in Long Island now. But we are gonna continue traveling back to Boston to follow the same doctor. Yeah.

[laughter]

0:52:48.0 S1: Nice.

0:52:48.8 Miles: Yeah, we just moved this summer. Yes.

0:52:51.2 LR: Well, thank you for joining us. And I hope to see you in the future, as well in events.

0:52:57.0 Katrina: Not to keep harping on the same thing, but just and I appreciate so much everything everyone said, but there were a couple of people in the chat who mentioned that they had testing while pregnant. And I’m wondering, if you had an MRI while pregnant or a CT scan or anything like that, an ultrasound, how could that help? Can you tell how the eyes are formed at that point through those devices?

0:53:28.6 Miles: Do you want me to share my experience or the doctors, please? You’re the expert, right? You can say from a professional…

0:53:34.1 Katrina: We can say at this point in pregnancy that can that be determined. If a fetus has FEVR.

0:53:40.7 Matthew: Dr. Capone, I don’t know perhaps you want to feel that one. But my experience has been that MRIs are most useful identifying detachments. So pretty advanced disease to begin with. Subtleties would not be picked up on an MRI. That’s my understanding of it.

0:53:58.8 DC: Oh, that’s exactly right, Matthew, and even then not until fairly late in the pregnancy is going to be a third trimester get informationally and limited by the resolution of the MRI.

0:54:09.3 Katrina: Thank you. I appreciate that.

0:54:10.8 LR: Thank you. And one of the things I didn’t mention before we say goodbye and those who’d like to stay on, we can give you a couple more minutes. But for those who have to go, we did commit to the hour and I really appreciate you being here. But we are having an annual conference. Once again, this will be our second annual family connection conference. It’s in January, January 21st, 2023. It’s a Saturday, it will begin at 10:00 AM and we’ll go from 1:00 to 1:30. That’s a great opportunity and time to listen to and hear from the doctors. So I want to thank everybody for being here and for taking time out of your evening. I know you’re all very very busy, but we so appreciate it at PRRF. Thank you.

0:54:50.5 Dr. Droste: The podcast is called Through Our Eyes. Make sure to like and follow our Discord channel, Facebook, Instagram, and TikTok, and let us know if you have any questions or have a topic you would like us to cover. We have tremendous things planned, and we hope you tune in again for our next podcast. This is Dr. Droste saying goodnight to all of you, on behalf of our staff at the PRRF, thank you.

[music]