Navigating Usher syndrome as a family

Natalie’s had hearing loss since she was about 3 years old, but it wasn’t until she was 29 that she was diagnosed with Usher syndrome. She tells us about this experience changed life for her and for her family. 

It’s quite a late diagnosis, so for most of my life I felt no different from anybody else. Or when I did notice that I was different, it wasn’t a bad thing. I started to lose my hearing at a very young age, but I managed quite well.  

Then, in my late twenties, I started having trouble with my eyesight. It completely changed me as a person. Even now, I haven’t fully come to terms with it. 

Natalie talks about her experience of living with Usher. She’s joined by her daughter Ellie.
Visual transcript of the video

We see a woman with blond hair and glasses holding a small dog in her arms and laughing. To her left, a young girl in a purple school uniform is also smiling and petting the dog. 
Natalie: I’m Natalie Williams, and I’m from Ebbw Vale, Cymru. 
Natalie begins pulling items from a makeup bag. We see her applying mascara and eyeshadow.  
Natalie: I have Usher syndrome type two, which is hearing loss, which I’ve had since I was about three years old. It didn’t really affect me growing up. I managed quite well. My speech is still really good. I’ve always lip read. We never knew about the Usher until it was confirmed when I was 29. 

Natalie is in her kitchen preparing a cup of tea. She sits on her sofa whilst her eldest daughter, the girl in the purple school uniform, is sat on the floor next to her. Natalie sips on her cup of tea. 

Natalie: I’ve always worked, but since the eye condition I think it’s completely changed me as a person. I just struggle with every day, like I can’t work anymore. The job that I was in, working in a factory was high risk. Like, at home, I feel safe, I’m in my comfort zone, but I feel when I’m out, I just don’t feel that there’s a lot out there that really helps you. Even just going shopping. It’s really challenging. 
Natalie’s husband is standing in the living room holding their youngest daughter. He playfully presses a finger to her nose. He passes their daughter over to Natalie and they sit on the sofa while smiling to camera. 

Natalie: When I got the diagnosis, you know, I knew something wasn’t all right. So obviously I was just expecting just something little. I got the result and actually I think it was a letter. The letter wasn’t accessible to me at all, it was just a normal print letter just to say that you have Usher syndrome and left to get on with it. And I Googled the rest.  It was hard at the time because I thought, my God, what am I going to do? Like, the things it was saying was you know, I’m just going to go blind. That’s it. 
Natalie is sat on the sofa with her family and the small dog. She has a contemplative expression on her face. 

Natalie: It is shocking news to have, I think, and I think somebody needs to have someone with them, sit them down, explain everything. Help them in any way you can and for the person that’s being told to accept any help that they can get. That was one of my biggest regrets is I didn’t ask for help when I needed it. 
Natalie is sat on her sofa with her small dog on her lap. She is speaking on the phone. She is relaxed and happy. 
Natalie: I heard about Sense when I was 33, when I had to give my job up. Somebody come from the council and she put me through to Angela. It’s like as if I was just sat there with a member of my family because it was just so nice and they’ve just been amazing. 

Angela, she said can I phone you, I said yeah, no problem, and she said, I got somebody with me she said that’s just found out she has Usher syndrome. She feels alone. She feels she has nobody to talk to. She asked If she could pass my mobile number on. I said yes, no problem at all and we’ve been inseparable ever since. 
Natalie is sat at the dining table, typing on her laptop. Again, we see her speaking on her phone.  
Natalie: Like everything she was saying sort of clicked, and it was like exactly how I feel or how I felt. It’s hard to talk to somebody that doesn’t know where you’re coming from or, you know, so I feel like if either one of us is having a really bad day, we just message each other and it’s just always nice just to have one person there.  

Natalie’s eldest daughter, Ellie, is sat on the sofa with the small dog on her lap. She kisses the dog on its head. 

Ellie: I’m Ellie Hooper. I’m 13. I’ve seen her before not getting the recognition she needs for her Usher syndrome.  
We see Natalie and her family preparing to go for a walk. Natalie’s husband zips their youngest daughter up in a pink coat whilst Natalie puts on a red coat. The family are outside walking through a grassy field. Natalie, Ellie and their youngest daughter are holding hands while Natalie’s husband walks the dog. Natalie pulls her hood back and smiles. 
Ellie: Like my mom, she doesn’t look like anything’s wrong but when we park in the disabled space like that, people look at us like we’re not meant to be there. If they’re confused, I know it seems weird, but ask, don’t judge. 

The family are all back in the house and sat on the sofa. Natalie and Ellie are watching and playing with her youngest daughter. Natalie takes the little girl’s hand and kisses it. 

Natalie: The amount of people I know that have no idea what Usher syndrome is and there’s nothing out there, so I think we need to make them more aware. I’ve heard a few people say, you know, people don’t like to ask and I think well no, people would like you to ask, or I would like you to ask rather than just assume. 

I could tell you a lot more and give you more information of where to look and what to look for, you know, for you to be able to find out for yourself. 
Natalie’s youngest daughter is sat on her lap. She laughs and points to camera with a smile on her face. 

Natalie: That’s my biggest thing really, just ask, don’t just assume. 
The screen fades to white. Two dots appear on screen. Orange on the left and purple on the left. The dots spin around the screen then comes together in the centre, forming two hands with the letter S in the middle. This is the Sense logo. Text appears below the logo. 
Voiceover: Sense. No one left out of life. 

Growing up different, but happy 

My older brother and I found out we were deaf at around the same time, when we were 6 and 4 years old. Our school was frustrated with us for not paying attention, but our family knew something wasn’t right. We had some tests done in hospital and that’s when we were diagnosed with hearing loss. 

We didn’t know any other deaf children, but we had each other. It was a bit of a fun time; we weren’t like anyone else and we looked out for one another. 

Later, when we both had our Usher syndrome diagnosis, things were much harder. 

Getting my Usher diagnosis 

For me, the whole process of being tested and diagnosed was horrendous. I was almost 30 when I started having trouble with my vision. I knew something was wrong. 

After I had my tests, it took ten months for results to come back – and then it was just a letter through the door. A letter printed in small font, which made it hard for me to read, and with no explanation of what Usher syndrome was.  

There was just no support at all. I had to Google it all myself. It was a really frightening time because everything I read told me that I was going blind. I thought “My God, what am I going to do? Where do I go from here?”  

I didn’t find out what type of Usher I had until later. Again, I had to wait months to hear the results of my blood test, which confirmed that I had type 2. This means that both my hearing and my vision are affected.  

Because I knew so little about it, I didn’t know then that Usher syndrome type 2 is also genetic. 

My brother got diagnosed maybe two years after I did. It’s very rare for both siblings to have it, so we’re special. 

Thinking about the future 

Because Usher type 2 is genetic, I wanted to know what would happen if I had children. If I was going to have a child with Usher, I’d want to prepare and know what to do. It wouldn’t have changed our decision to have a child. 

I’ve been married to my husband for five years and we both got tested. Both mother and father need to have the gene to be able to pass it on to the child. My husband isn’t a carrier, so there wasn’t a risk of our children being born with Usher. 

I think it’s really important that more is done to raise public understanding of the condition. If more people knew about it and what it’s like to live with, they’d be able to be more sympathetic, or do more to help. Even just little things, like offering to help in shops or restaurants, it would make such a big difference. 

There are so few resources out there, so most people have no idea what Usher syndrome is. I hope that, working with Sense, I can help to raise more awareness and help other people with Usher get the support they need. 

If you want to learn more, check out our guide on Usher syndrome. You can read about the condition, the treatment and care available, and how Sense supports people with Usher syndrome.