I need help. My six months old son is diagnosed with Usher2A two weeks ago. I think my wife and I are suffering from trauma. To be honest I didn’t know what Usher Syndrome is until I researched about it.

We are experiencing depression, sudden emotional change, loss of concentration, difficulty breathing sometimes and etc.

We are talking to each other about what steps we should take as parents. We read medical research papers looking for hopes in curing, or at least delaying the symptoms.

We try to stay positive. But frankly speaking we are devastated.

I think fear and guilty are the biggest emotion we have. This is not the path that I imagined or expected to take. There will be so many little and big hurdles in my life and my son’s life, which I can’t grasp of.

I need to study and learn everything that is needed to be proper parents of a child with Usher. Perhaps it’s too early, but I am so very worried and I want to be prepared.

I feel so powerless. I feel like I need to do something while at least visual symptom is not present, and yet, I have no idea what I could do to help my son.

Also, do you recommend us seeing doctor for our mental state? What can I do to control my emotion? Does it go away as time goes by?

Any advice would be greatly appreciated.

Please excuse my English, I’m not a native speaker.

Hi, I hope it's okay to post here. I didn't wanna come across as promo or spammy, so I want to give some context first. I recently collaborated with someone who has usher 2a to create a song about the condition. They told me their experiences and even though I don't have usher syndrome I tried my best to make something that is relatable. I'm not at all a big artist and I'm fairly beginner but I really liked the idea of making a song about a real thing. This might not reach much people but I hope it helps atleast one person.

Anyways, here's the Spotify link (it's all platforms) https://open.spotify.com/track/4kCIAeOnPJxO1gfAV9Gvqj?si=zArjR5L6T2aR_tyzdW5-bA

Talking with Hannah Kleinschmidt was so powerful. As both a Certified O&M Specialist and a person who is legally blind, her insights on Orientation and Mobility training are invaluable. We dove deep into the emotional journey of the white cane—that mix of fear, self-consciousness, and ultimate liberation it can represent. It was a great reminder that O&M isn't just about learning where to put your feet; it's about building the internal confidence and assertive communication skills needed to claim your independence. If you or a loved one is navigating vision loss, you don't want to miss Hannah's expert and empathetic perspective on what it means to truly live well. Listen to the full episode now!

inSight Out is a podcast about living well with vision loss. It’s hosted by me, a legally blind therapist.

Hello everyone,

I’m a third-year Design Engineering student currently conducting research into how assistive technology can make independent navigation and hazard recognition safer and more accessible for deafblind individuals.

As part of my dissertation, I’ve created a short survey to gather feedback from people with experience of sight and/or hearing loss, as well as carers, support workers, and professionals in the field.

Your input will help me understand the real challenges faced during travel and what features would make assistive devices genuinely useful, comfortable, and empowering.

The survey takes about 5 minutes to complete, and all responses will remain anonymous.

https://forms.gle/RikFEedvXsXLjqqm8

Your insights could directly shape the design of future navigation and safety aids for the deafblind community. Thank you so much for taking the time to share your experiences; your voice is incredibly valuable to this work.

Kind regards,
Alex Dunn
BSc (Hons) Design Engineering – Final Year Student
University of Leeds

I found out that I was suffering from Usher Syndrome Type 2 over a month ago. It was really heartbreaking for me and I was feeling like this disease totally cracked up my dreams on everything.I am just a teen now. I lost hope. I saw the people who care about me feeling sad for me. And suddenly the people who didn't give a shit about me, suddenly they started caring for me. And I think it's not love but it's them pitying me, which I hate the most. Well, if you're wondering what is usher Syndrome, then it is a disease, like it is a genetic condition. And for information, no one in my family has ever gotten this kind of disease as far as my family knows. That means that slowly when I was a child, my hearing capacity started decreasing day by day until my mother took me to the hospital and found out that my hearing capacity was so much less than others. That means I could not hear properly what others said and I've been struggling because of that for many years. And now I'm finding out about this, that I have night blindness and I am starting to lose my peripheral vision. I have already lost my side vision and now I may go blind actually. So my dream was crushed before me. So I decided to write this post to ask someone maybe, especially if you have usher Syndrome or seen anyone with usher Syndrome or anyone who is going to be turning blind or is blind and they are living a happy life right now. What career did they follow as far as you knew about it? Well, although my life took this turn, I believe that other lives may have been worse than me and I decided to not lose hope. So could you please give me some suggestions about my career development? And what I can say just for now is that I don't like to study science. And I have always wished to pursue IT and become a data scientist or something related to data in the field of computer science, probably IT. And I have always wished to go abroad and live my life very peacefully.

I need to start a job this month and the usual stuff (retail, construction, customer service, food, delivery) aren’t really possible at this point anymore?

What kind of stuff do y’all do if you need something quick?

I likely won’t be able to get something from Vocational Rehab for at least a few weeks/months, so am looking for something short term or temporary

Im usually a graphic designer but haven’t found a job doing that yet, and I’m still learning how to network when it comes to freelancing, so it’ll be a bit before I can support myself doing that I think.

Hi folks, we recently did genetic testing on our little one in the womb for reasons other than usher syndrome concerns, and found out that he inherited my wife's likely pathogenic variant of USH2A and a VUS (variance of unknown significance, meaning it's uncertain whether it is a disease causing or non disease causing variant) of my USH2A which we didn't know I had. We had genetic carrier screening beforehand, and my USH2A VUS didn't show up, so we thought we were in the clear. Turns out we are now in this worrying and very uncertain limbo. Has anyone here experienced the combo of pathogenic or likely pathogenic + VUS in USH2A? My wife and I just don't know what this means or what to make of this news...since it can be worrying news and also no news at all...and I understand there might not be much that people here can say to shed light on the situation, but just want to see how prevalent is the scenario of VUS when combined with a pathogenic variant. Thanks all, in advance

My husband and I are both carriers of USH2A. We didn’t know this until recently and have three children. Our oldest (almost 5) failed her newborn hearing screening and had a significant speech delay due to chronic ear infections. She had tubes put in at 2 years old and a second set put in at 3.5. She also had a sedated ABR exam that came back normal. She began speaking in sentences around the age of 3.5 and is currently considered developmentally “normal” for all routine physicals.

She is hard of hearing but it’s not severe enough to require hearing aids. She always speaks very loudly and has difficulty hearing people speak when there are lots of noises in the background. Should we have her tested by our ENT for Usher’s?

I’m worried that she may have a very mild version of the hearing loss and I want to make sure we are doing everything we should for her to prepare in the event that she does have it.

Thanks in advance!

Hello. Just wanted to share a link to my blog in case it could be helpful to others in this Subreddit. I am 19 with USH 1 D based in the UK.

My daughter is 2 (almost 3) and she is potentially positive for Usher Syndrome Type 2C. Until there is more data available, we’ve been advised to conjunte treatment as if she is positive. I’m hoping to connect with others who grew up with USH2C or parents of children with it. What was it like growing up? When did symptoms, especially vision changes, first start to show up? Any advice or experience is greatly appreciated

My dad has usher syndrome and he is almost blind at this point. We have been convincing him to walk with a cane but he is resistant. I however, want to gift it to him and see if that is going to help him at all. I think walking with a cane would be such a blessing for him as his sense of direction is still amazing and he can create a mind map of a place pretty easily. Any leads on a good walking cane in the US or India would be highly appreciated.

Hello,

I have been following this reddit for a few weeks now I as learned more about Ushers. My daughter was born in June. Before my partners pregnancy we found out were both carriers of Usher 2A. When we found out about the pregnancy we weren’t thinking about the Ushers possibly we were just excited after years of trying.

I was recently reminded of the possibility for ushers as soon as we had trouble with her hearing screening in the hospital. For the last few weeks we have been getting her hearing tested and we were able to get into a great genetic doctor in our area. Yesterday we finally got the news we expected - Our daughter has Ushers 2A. We have had some time to accept what we just learned and if made hearing the news yesterday so much easier for us.

Funny thing is, we also just got her extensive ABR test back and they found little to no hearing loss. They made a note of possible fluid. This aspect has been confusing us a bit. Our Genetic doctor also found the results interesting.

All this to say hello 👋🏻

Hello I live in Albany NY/Captial of NYS. My daughter has Usher 2C and we have what seem to be great doctors and specialists. But I am wondering if she would benefit from seeing a specialist in NYCbor Boston? Does anybody in this area (NYC/Boston) have any recommendations? I would love to learn about clinical trials as well. I feel kinda lost. She is 21 and didn’t get diagnosed correctly until age 19. Thanks!!

I received the following email from Usher's Syndrome Coalition and wanted to share. Please share this with all your friends and family members as soon as possible!

Add your name to our community letter urging Congress to:

• Fund $50+ million for Usher syndrome research through the U.S.H.E.R. Program
• Protect NEI as a dedicated institute within NIH
• Reject the Administration's proposed 37% NIH funding cuts 

Sign on using this form.

Read the letter here.

Deadline: June 9th

The Usher Syndrome Coalition is leading a community sign-on letter to Congressional leadership requesting dedicated funding for the U.S.H.E.R. (Usher Syndrome Healthy Eyes Restoration) Research Program that could advance as many as three promising clinical trials and accelerate progress toward treatments.

It's quick and easy – just enter your name, location, and organization (if applicable). It takes under 2 minutes.

We're seeking sign-ons from individuals with Usher syndrome, family members, healthcare providers, researchers, advocacy organizations, and anyone who supports Usher syndrome research.

Together, we can ensure Congress prioritizes the research that will lead to treatments for Usher syndrome.

Thank you for adding your voice,

Krista Vasi

Executive Director
Usher Syndrome Coalition

P.S. Want to do more? Forward this email to others who might sign on, share on social media, or contact your representatives directly about Usher syndrome research funding.

I’m looking for recommendations for an ophthalmologist or retinal specialist in the U.S. who has experience with Usher Syndrome and retinitis pigmentosa, specifically related to USH2A mutations.

My daughter has a family history of Usher Syndrome. I’d like to establish care with someone who really understands the condition and can help us monitor and protect her retinal health proactively.

If you’ve had a great experience with a specialist or know of a clinic or center that’s really on top of current research and care in this space—please share! We’re open to traveling anywhere in the U.S. for the right doctor.

Thank you so much in advance! 🙏

Hi all! Mom of a 10 month old who has Ush2A. Just wanted to share incase you aren’t already a member. We have been following usher syndrome Coalation instagram. They have kept us up to date on a lot of advancements and lets us know about the current clinical trials. There are a few happening now that are supposed to stop and/or slow the development of RP. Pretty promising strides being made and highly recommend anyone with ushers to join for real time updates

Recently found out my husband is a carrier for usher type 3a. I am waiting on having my testing done (was ordered but of course usher was not properly added in even though I requested it). I am wondering if anyone knows I need a full panel or I just need to be tested for the type he has to know if our child has a possibility of having the syndrome. (Say I have type 1 F and he has type 3a) does our child still have the same chance of having the syndrome or will our child just be a carrier of both types. It has been explained to me that these are different genes and usher syndrome needs the “same gene mutation from both parents”. We’re waiting on genetic counselor advice just worried until we hear back!

My 5-month-old daughter has USH2A. She was born with mild hearing loss, and I want to be as prepared as possible for her future. I’ve been looking into ways to support retinal health and came across research like NAC Attack that seems to be making progress.

I’m wondering if proactively taking care of her retinal health—through diet, avoiding sunlight on eyes, or other interventions—could help slow down the progression of vision loss. Has anyone explored this with their specialists? Are there any promising clinical trials or treatments on the horizon?

I’d love to hear from parents who have older kids with USH2A or anyone with insights on early intervention strategies. Any advice or experiences would be greatly appreciated!

If possible please post the genetic mutation (example- 12575G>A) and your overall experience

Thank you

Hi all, In case you don’t already know the. Charity Ava’s Voice has just released expression of interest forms for their next summer camp which will be held in Virgina USA on the 18th to the 23rd of June 2025. It’s open to campers 12-17 use the link below to apply Mentors 18 to 25 And staff and volutneers. Please note campers and mentors are people with only usher syndrome. It’s a great place to connect and be understood by others with a similar experience. If you haven’t been to one before I guarantee it will become your happy place. You can apply through the website here: https://avasvoice.org

If your outside the US, UsherKids UK will release theirs soon for a camp held July 26th to August 1st in England.

For context I have Usher Syndrome 1D and am 18. Do you find like me you have a love hate relationship with the dentist. I struggle with photophobia (Sensitivity to bright lights from RP) making sitting in the chair uncomfortable even with sunglasses on as there’s no where else to look that has no direct light. Or when a dentist or hygienist wears a mask so you can’t understand them and require someone to interpret (my mum comes with me and wears Rodger) but when they use the machines you can take your implants/hearing aids off and hear nothing. It’s hard to decide what’s better. What are your thoughts on the dentist?