Usher Syndrome: A Patient Perspective with Molly Watt
Hi, my name is Molly. I am 27-years-old and I have a condition called Usher syndrome. Live in the UK, southeast, in a town called Maidenhead.
Prior to being diagnosed with Usher Syndrome, were you experiencing any of the typical ocular symptoms?
I, personally, as I’ve been deaf my whole life wearing hearing aids, I’ve always been a very visual person, so the first things I started to notice was struggling to lipread, which as a deaf person was kind of like my mode of communication, I would read people’s lips. Once I started to struggle to lip read, I struggled to read the board in the classroom. I was a bit clumsier and I experienced lots of headaches. It was my teacher of the deaf at the time who said, “Oh Molly, you might need reading glasses.” We weren’t particularly worried at this point because we were told that it’s not uncommon for deaf children and adults to be experiencing such exhaustion because it is tiring being deaf and taking everything in visually.
It wasn’t unusual for a deaf child to wear glasses or anything like that so we were guided by that. We went for a routine eye check and then that’s obviously when it confirmed our worst nightmare really. But yeah, no, the ocular experiences were just that clumsiness, unable to lip read. I would go as far to say now, looking back in hindsight, that the night blindness started a lot earlier on because I’ve always hated the dark and I hated school discos, I hated Halloween, I would do anything to avoid them. But again, what child does like the dark, this was never something that we questioned. But yes, so, on that standpoint though, now that we know I have Usher syndrome and that one of the first symptoms of retinitis pigmentosa is night blindness, I would say that started quite early on.
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?
I found this question quite an interesting one, I’d never heard that reference before so I did really have to think about it. But I think, for me, my experience was slightly different in some respect because obviously the optician picked it up quite early on. I was 11, almost 12. I was quite oblivious to the whole thing. I think I was very much used to going to appointments and having lots of adult attention because of my deafness. I never really viewed it as something particularly unusual. It didn’t really appear strange to me for a while and it actually wasn’t until a couple years down the line when I’d obviously lost a lot more of my vision that I started asking more questions. I discovered that … I refer to it as an eye condition but I never really, again, really understood the severity of it, I just knew there was something not quite right, but it is what it is.
I noticed, as I was asking more questions, my mom was finding it harder to answer them. When I got to 14, 15, I lost the majority of my vision by the age of 14 so I went from being partially sighted to severely sight impaired, blind at the age of 14 so, obviously, I lost quite a lot. That’s when I was asking more questions and I remember mom struggling to answer them, and then she said the words Usher syndrome. Again, they didn’t really mean much to me because I’d never heard of it and that was when I Googled it and it was the first time I saw the word blind. It never really struck me how serious it really was. From a parent perspective, I don’t want to shun my mom here, my parents really struggled because I was one of four kids and it was a case of how do you tell your daughter that she’s going blind and we can’t help it sort of thing so I think they really needed to take the time to wrap their heads around it before they could talk to me about it.
Then mom would say that she had ways of telling me, she had planned how she was going to tell me, but it never turned out the way she envisioned, I think, because I wasn’t told until later on and I’d lost a lot of my vision. It then was a fair few years after that that I really started to accept it. I was very much in denial for a very, very long time because I could get away with it. I could get away with seeing a little bit and hearing a little bit, but it wasn’t the safest. I started to notice society treated me differently if I was holding my cane or if I was out with a guide dog asking for help when I “looked normal.” It’s a lot of tricky lessons to learn quite early on in your life. I would say there was a great deal of denial.
I really struggled with my mental health. I had depression, anxiety for a long, long time, and still, to this day, it’s something that doesn’t go away. Looking back, I think we really overlooked the fact that I was only a teenager and I was hormonal, and I was at school and I just wanted to be like my friends. If we maybe focus on that a little bit more over the diagnosis then maybe things would be different but I think because Usher syndrome and deaf blindness were thrown in my face all the time I would do anything to not think about that. And so, that led me to denial and a fair few years of very, very dark years.
In your biography, it mentions that an ophthalmologist referred your to a specialist during a routine visit. Can you briefly talk about why you think it’s important for ophthalmologists to be aware of Usher Syndrome and its signs and symptoms?
Yeah, so I talk about how lucky I was a lot because a lot of people have question marks over the Usher syndrome diagnosis for a really long time because people don’t know what they’re looking at. But my optician, just in our local Vision Express here in the UK, just so happened to be reading up on Usher syndrome and he had asked my parents, “Do you know why Molly is deaf?” And they had said, “Well, no, it was a technical blip, we were just told it happens sometimes. There’s no family history, none of that.” Something must have clicked in his mind. Thought, “This patient is deaf as well, let’s just check some other things out to rule it out.” Then that’s something, particularly like Spec-Savers here in the UK, they now provide hearing aids as well as glasses.
I always think they should really be aware of Usher syndrome because, obviously, if they’re offering both hearing devices as well as glasses, it would be good to be aware of some of the early onset symptoms and it would save a lot of time and stress on the family when it comes to support. Particularly if you’re a child and you’re in education, it is so, so hard trying to get appropriate support that can help you thrive as an individual so, if you don’t, then that really hinders your mental health further. You’re excluded from friendship groups, from society, from getting a job, it’s just a knock on effect. Yeah, I’m really quite fortunate because the optician knew. He had heard of or he had been reading and he knew enough. I’m not expecting people to be experts but just to know to ask the right questions. “Oh, my patient’s deaf as well, let’s just check a couple of more things out just to be safe.” I don’t think that’s a lot to ask. I think if you’re an optician it’s very likely you’ll come across a lot of deaf people, there’s no reason why you shouldn’t cover all bases.
Are you currently being treated, if so, what therapies are you using?
No, I’m not being treated. I’m involved in a lot of research and stuff, I always put my name down for everything. I’m at this point where I don’t really have a lot to lose. I’ve donated my skin to Maria Moosajee over in Moorefield Eye Hospital. They’ve got zebrafish and they’ve got a bit of everything in her lab and they’ve been doing all sorts, which has been really, really exciting. But they’ve been able to create a replicate of my retina using my skin sample and so they’re studying that and, obviously, I’m going to go and visit my retina to see it. But yeah, no, I’ve never shied away from any opportunities or if it’s of any help to researchers or educators I’m always quite keen to be a part of things, but there’s nothing currently ongoing. But yeah, I try to stay in the loop as much as I can but I don’t let it overrule my life because, obviously, I do just need to live my life and just hope for the best that one day something’s going to come along and help us all out.
How have your ocular symptoms progressed?
I have five degrees vision left. I mentioned a moment ago I lost the majority of my vision very early on with my Usher syndrome, which I’m told is a bit more rare, because I have Usher Type Two and normally it’s kind of adolescents, late twenties, early thirties, that’s what I was told. I wouldn’t lose a lot of my vision until I was in my late twenties, early thirties. However, I went from being partially sighted at 12 to severely sight impaired, politically correct for blind at 14. Yeah, so I sort of have quite a small window. My left eye has pretty much had it so I rely mainly on my right eye. Can’t see a thing in the dark, struggle a lot in bright light and glare as well.
The winter months are pretty hard here in the UK. Now the sun’s a lot lower and it’s darker all the time so it’s normally the coming year us people with RP and Usher syndrome hibernate for a few months because it’s just not much fun being out and about. My vision has progressed quite a bit. Touch wood, it’s been fairly stable the past few years. One would like to think that the damage has been done, if you like, and that I’m going to keep what I have but that’s the cruel thing with Usher syndrome, there’s no way of knowing.
Are you optimistic about new treatments for retinitis pigmentosa being developed?
I try to be optimistic. I think, as I just said, I try not to hold my breath or constantly research and look at things online daily or weekly because, if you do that, it controls your life and you can very quickly fall into a rabbit hole over it. I always stay optimistic for future generations. Obviously, it’d be amazing if something was to come by in my generation to at least stabilize. And, of course, if it was to improve vision, then that would be an absolute bonus. But something that could come along and just freeze what I’ve got so then I don’t have to be worried about, “Oh, what if I lose more? What if I can’t see my children grow up?” And things like that that often get me sad.
Yeah, I try to remain positive. There’s no reason why I shouldn’t be because there’s so much going on, particularly since I’ve been diagnosed. I’m 27 now so it’s been a long, long time. There’s been so much more happening in the sector in the last three or four years, which has been really, really exciting for us as a family to see because when I was first diagnosed there really wasn’t a lot. Just based on that, I do feel fairly positive. I’m also kind of hesitant because I don’t want to be too positive and get too excited.