Usher Syndrome: A Patient and Husband/Caretaker Perspective

Questions:

Prior to being diagnosed with Usher Syndrome, were you experiencing any of the typical ocular symptoms?

Sophia:

So prior to being diagnosed, yes, I was experiencing night blindness before I can even remember. I mean, I should probably say going to the movies as a 10 year old. And mind you, I was diagnosed when I was 27, so just to give you that 17 year range where I really wasn’t understanding what was happening, and I know that’s a further question down the line. But I would walk into seats in the movie theater and I remembered asking people, “Do you have a hard time seeing in the dark?” And people would be like, “Yeah, of course. Everyone has a hard time seeing in the dark.” So, it felt so normal that I would experience these sort of discomforts and challenges. And so I never really thought too much about it. And so, I mean honestly, as early as 10, movie theater, because we were big movie goers, so bar hopping from movie theater to movie theater is what we did. So that’s really the most important, the most challenging, I think, experience that I can really pinpoint noticing anything.

Question:

Many patients with rare diseases experience a diagnostic odyssey (the time from when symptoms first appear to when a diagnosis is made). How was your experience navigating symptoms and not knowing what (if anything) was causing them?

Sophia:

That’s kind of a funny question for me because this whole diagnostic odyssey, for me, it was actually, in Spanish we say [foreign language 00:01:51] which means mop hands. So, I was extremely clumsy is what my odyssey was all about. Obviously, in retrospect, it wasn’t clumsiness after all. And I don’t have balance issues. That’s not a characteristic of my version of Usher Syndrome, but it appeared as if I did because I would walk straight on to things, or [foreign language 00:02:19], the whole mop hands where I would just move my hands and I’m very articulate with my movement and exaggerated basically. And I would knock bottles over, cups, and people were like, “Ah, Sophia did it again, [foreign language 00:02:34]. And so that was my odyssey.

Question:

Are your currently being treated, if so, what therapies are you using?

Sophia:

No. I used to take vitamin A, but when I was reading about how much potential damage it can do to your liver, I also like to drink alcohol, so I was like, “Nah, I’m good.” There’s no proven anything for that type of therapy, so I just kind of let it go. But I did it for I think, what, one or two years?

Socrates:

About two years.

Sophia:

Yeah.

Question:

How have your ocular symptoms progressed?

Sophia:

Kind of going back to the odyssey, what was interesting about my experience is that I sort of didn’t notice that I had any problems per se until I was diagnosed. So, since I was diagnosed, it was like my whole world ended because I started noticing that I was missing out on so much. And I think part of my progression, that progress, has to do with just me picking up on those nuances that I was clumsy before. And so now knocking over that bottle or that can of soda is no longer me being clumsy. It’s, “Oh, darn. My vision’s going. I see less and less, and I really need to pay attention where I’m walking.” Look straight down and walk into poles or air conditioner unit that may be a little bit lower. You’re supposed to sidestep them, but I don’t. I walk straight on. So, I split my head open several times and they weren’t fun. But they were part of the journey anyways.

Question:

Are you optimistic about new treatments for Retinitis Pigmentosa being developed?

Sophia:

A hundred percent. I mean, since I was diagnosed, I’m 37 now, so it’s been 10 years, I have felt that my hope back when I was 27 was limited. And now I’m just like, they’re going to find something. I know it. In my lifetime. I’m convinced of it. I feel it in my heart of hearts. And so that has helped me sort of be less stressed and anxious about the whole thing and just like, “Oh yeah, my vision has progressed. It’s okay. It’s going to be soon anyway.” So that’s sort of my mindset, I hope.

Question:

What is your role as caregiver?

Socrates:

I just wanted to sort of put an opinion on that because the word caregiver for me sounds like a very strong word. And just taking into consideration Sophia’s condition, I unfortunately have experienced what actual caregiver is for somebody who has a condition that they cannot do anything for themselves. And so they need day-to-day care 24/7. With Sophia’s condition, the retinitis pigmentosa part of it specifically, her vision obviously has progressed and will continue to progress until there’s some sort of treatment or cure available. So, I don’t really see myself as a caregiver in that aspect. I see myself more as somebody who’s assisting her with some of her daily activities. We’ve been together 10 years and I’ve been able to pick up here and there along the way. And sometimes I still forget that she has vision problems, or vision impairment I should say.

But you pick up on things that you anticipate may or may not happen. So, if we’re walking down the street, she’s usually holding onto my arm and I’ll explain to her, “Hey, there’s a slope coming up on the sidewalk,” or, “There’s a hole coming up. I’m going to take you in this direction.” “Look out for this or look out for that.” So, that’s sort of where I come into play. She’s pretty independent still, which is great. Her vision impairment hasn’t progressed that much. She does use a cane when we’re in more busy areas, or if she’s by herself, she will use a cane. But as far as caregiver responsibilities, for me, it’s a very strong word. And my sister was diagnosed with ALS few years back, and so that’s real caregiving there. So, it’s more of a personal care assistance. In Sophia’s case, again, I know there’s other folks that have retinitis pigmentosa that are far more progressed that may need the actual caregiving. So, that’s sort of where my role comes into play with her.

Question:

How do you anticipate this role evolving over the next 5 or 10 years?

Socrates:

That one’s interesting as well because my anticipation is that it doesn’t evolve. I hope that something comes out that either stops the progression and or there’s a cure and can restore some of the vision that she has lost. We have to be realistic about things, obviously. And the fact is that her vision will continue to progress. So, I see it evolving in the aspect of her needing more assistance with her daily activities. When her vision starts becoming more tunneled and the whole donut hole vision that is used as an example, sometimes she’s going to need much more guidance as she’s moving around.

She was giving examples of things that have happened where she’ll knock a glass over on the table, so it’s going to be making sure that things are placed in areas where she can’t knock them over, or we’re going to walk into them, that kind of stuff. We know other folks with a similar condition who are still pretty independent and maybe using their cane much more often as they have progressed. I don’t want to take her independence away from her any earlier than it needs to. So, I step in when I need to and I’ll continue to step in when I need to. So, in five to 10 years, that may grow more or we’ll find a way to make it work between us.

Question:

What do you wish providers knew about the part a caregiver plays in a patients overall care?

Socrates:

I think the one main thing for me, it still ties into the patient’s individual diagnosis and where they are with things. And then my role as a caregiver for that aspect will sort of determine what I wish they knew. So, understanding that there’s sort of a spectrum potentially for Sophia’s condition and providing me with information on that spectrum of where she’s at now, where things may be in the future, so that I can have as many resources as we can have possible. And that’s with any condition, just in general, specifically to retinitis pigmentosa, Usher Syndrome. Sometimes you just run into instances where everything is just very blanketed and it’s generalized, and that doesn’t help the patient. It doesn’t help the caregiver. And you’ll just be thrown things that they feel like you need. But sometimes it’s, “Oh, I don’t need this. She’s not there yet,” or, “She’s way past that. That doesn’t help me anymore.” So, it’s just really about providing the information that I, as a caregiver, would then be able to take and help Sophia as it would pertain to her situation.

Sophia:

Doing a customized individualistic diagnostic of the said individual, and that not only helps the individual themselves being the patient as well as the caregiver. And I think that a lot of times providers just throw a lot of information. And the way I see it is something you throw as many things to the wall and hope something sticks. And unfortunately, examples would be, I wasn’t as far along at that time to need a cane, but that was the first tool that they requested of me to use. And it was just a little jarring to just be told sort of like, “Oh.” And I have hearing, obviously, and I know this is the hearing part of it, but it’d be like a doctor telling me to get cochlear implants and I don’t need them because I have hearing aids and I can hear with hearing aids. So, it’d be like to go to an extreme. And I feel like that is sort of what is needed for providers, not simply for the caregivers, but for the actual individual themselves in any and every industry or whatever you call it, a category of disease.

Socrates:

I think it is one of those things where possibly one of something that may help is that the providers loop in a counselor, a therapist, or something that the patient and the caregiver, if that’s the situation, can talk these things through. Because the example that Sophia’s giving with her cane, she has vision impairment, when she was diagnosed, obviously, and it has progressed. But at that time, it wasn’t to the extent where she needed the cane. She was mobile enough. Yes, she would walk into things and the cane would help her prevent that. But it was just kind of like, “No, you need this. Here, go on your way.”

And there wasn’t the resources to understand why they were saying that, where she was going and what needed to be the next step. It was just kind of like, “This is your life now.” Because when somebody’s life has basically turned upside down with a diagnosis like that, it’s tough mentally. And to be told, “You need a cane now 24/7 when you’re walking down the streets of New York City. You have no choice, sorry,” but to be able to accept that and process that. So, it’s just looking at it more as a whole, holistically, if you want to think you use that word. It’s not just about you need this, but help them understand why and just take all that into account before just dumping all this information on somebody.

Sophia:

Yeah.