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. 

A non-BSL version of this video is available here. The full visual transcript for both videos is also available.

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.