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Reposted by Usher Syndrome Ireland

Deborah @deborahhh.bsky.social · 9d

There needs to be a universal disability payment. The current means-tested support can then become a 2nd layer. This would create a fairer system as there’s many people with disabilities who can't work but still get nothing under the current rules yet endure higher living costs!
#SpeirGorm #Budget26

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Usher Syndrome Ireland @usherireland.org · 9d

Ever wondered what vision loss from Usher syndrome looks like? Our simulation glasses are helping people experience it & they look great in action during a recent Hackathon as part of the INCLUDE Deafblind Project, led by SMARTlab at UCD & The Anne Sullivan Foundation.

👀: www.ucd.ie/smartlab/new...

Three people are sitting at a table in a meeting room. They are wearing green Usher syndrome/RP simulation glasses produced by Usher Syndrome Ireland. Photo credit to SMARTlab-IDRC at UCD, funded by the UCD Research Office via PPI Ignite.

A group photo of 14 adults and one toddler posing cheerfully for the photo. Three people have canes placed in front of them.

Usher Syndrome Ireland @usherireland.org · 10d

A big thank you to the Irish Society of Hearing Aid Audiologists (ISHAA) for inviting us to speak & have a stand at their recent conference. We’re pleased to see growing awareness & understanding of Usher syndrome within the audiology community! #UsherSyndrome #Audiology #Accessibility #Healthcare

ID: A table with a display stand placed behind it. On the table are various items including boxes, paper bags, leaflets, and simulation glasses. The table is covered with a tablecloth that has several icons of eyes and ears with the caption 'Are you Usher Aware?' in a circle. The display stand contains similar images and text.

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Usher Syndrome Ireland @usherireland.org · 24d

We’re proud to share the results of our second major research project!🎉

This landmark scoping study identifies the data and model needed to lay the groundwork for a successful, sustainable Usher syndrome registry in Ireland.

🔗: usherireland.org/ush-registry...

#RareDisease #PatientRegistry

ID: Text in image reads “A landmark report on data collection for Usher syndrome. Our new report identifies the challenges and potential solutions needed to create an Usher syndrome registry that supports access to future treatments and clinical trials, while improving services in healthcare, education, mental health, employment, and accessibility.”. Underneath is an outline of a group of people standing in front of buildings.

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Usher Syndrome Ireland @usherireland.org · 27d

(continued) The different types of Usher syndrome - do you know them all?

Follow along & share to help spread awareness for #USHDay2025. 🩷

#UsherSyndrome #USH1 #USH2 #USH3 #USH4 #RareDisease #Genetics #DNA #Mutations

Slide describes Usher Syndrome Type 3 with subtypes and genetic mutation: USH3A (CLRN1), USH3B (HARS). Symptoms: Normal hearing at birth, progressive hearing loss typically begins during adolescence. Vision loss begins during early adulthood leading to severe vision loss by mid-life. Balance issues can vary.

Slide describes Usher Syndrome Type 4 with subtype and genetic mutation USH4 (ARSG). Symptoms: Normal hearing at birth, progressive hearing loss is typical during adulthood. Vision loss begins during adulthood. No known issues with balance. *USH4 is a recently discovered type with more research needed to learn more about this type.

Cut-out of child in a superman costume shouting into a megaphone. Text, “Repost. Follow. Spread USH awareness by reposting the slide with your type! We’ll continue our deep dive into Usher syndrome as we approach #USHDay2025 this Saturday, 20th September.”

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Usher Syndrome Ireland @usherireland.org · 27d

The different types of Usher syndrome - do you know them all?

Follow along & share to help spread awareness for #USHDay2025. 🩷

#UsherSyndrome #USH1 #USH2 #USH3 #USH4 #RareDisease #Genetics #DNA #Mutations

Types of Usher Syndrome. A cut-out of a hand holding a DNA gene between the finger and thumb.

Text “Usher syndrome comes in 4 types & each type has its own subtypes! Why? Because each subtype is tied to a different gene mutation that causes Usher syndrome. Note: Type 4 is newly identified.”.

Slide describes Usher Syndrome Type 1 with subtypes and genetic mutation USH1B (MYO7A), USH1C (USH1C), USH1D (CDH23), USH1f(PDH15), USH1G(SANS), USH1J (CIB2). Symptoms: Profound loss (little to no hearing) at birth. Decreased night vision becomes apparent during late childhood & progresses to severe vision loss by mid-life. Issues with balance tends to be present at birth.

Slide describes Usher Syndrome Type 2 with subtypes and genetic mutation: USH2A (USH2A), USH2C (ADGRV), USH2D (WHRN). Symptoms: Mild-severe hearing loss at birth, some may experience progressive loss during adulthood. Decreased night vision becomes apparent during late teens & progresses to severe vision loss by mid-life. No issues with balance.

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Usher Syndrome Ireland @usherireland.org · Sep 15

(2/2) Are there other symptoms in Usher syndrome? Let’s explore what researchers are asking! Have you experienced any of these?

#UsherSyndrome #RareDisease

Text reads “Does Usher syndrome also affect the sense of smell? Some studies suggest it might, though more research is needed.”. Underneath the text is a cut-out of a woman holding flowers close to her nose.

Text reads “Sometimes the main symptoms of Usher syndrome leads to secondary conditions like cystoid macular edema, cataracts, headaches, or low mood. These aren’t direct symptoms, but they can arise as part of the bigger picture of living with Usher syndrome.”. Several icons of eye drops, headache, and low mood can be seen.

Text reads “Help spread USH awareness by reposting & following us. We’ll continue our deep dive into Usher syndrome, its symptoms & more in the lead-up to #USHDay2025 on 20th September.”

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Usher Syndrome Ireland @usherireland.org · Sep 15

Are there other symptoms in Usher syndrome? Let’s explore what researchers are asking! Have you experienced any of these? Part 2 in comments below.

#UsherSyndrome #RareDisease

A man wearing glasses is looking up in a thinking manner. Text reads “Are there other symptoms in Usher syndrome? “.

Icons of question marks, nose, and hand can be seen. An outline of researchers in a lab posing for a photo. Text reads “Some researchers think Usher syndrome may affect more than hearing, vision, and balance. However, with research still limited, links to other symptoms remain unproven.”.

Text reads “Many with Usher syndrome report fatigue and sleep problems. While extra effort from hearing and vision loss plays a role, new research suggests USH may also affect how the brain regulates sleep. “. Underneath the text is a cut-out of a woman rubbing her eyes beneath her glasses.

Text reads “Some research suggests that some people with Usher syndrome may experience reduced touch sensitivity. This theory has still yet to be confirmed.”. Underneath the text are outlines of several hands raised up.

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Usher Syndrome Ireland @usherireland.org · Sep 12

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Usher Syndrome Ireland @usherireland.org · Sep 12

Thrilled to share exciting news from Nacuity Pharmaceuticals. This approach is expected to work regardless of the USH type. For the first time, we may be looking at a treatment that can help slow vision loss while we continue to wait for a cure. #UsherSyndrome

🔗 www.nacuity.com/news/nacuity...

In quote box "NPI-001 shows more than 50% reduction in photoreceptor loss caused by RP associated with USH over two years". Text underneath reads "Nacuity Pharmaceuticals Announces Positive Data from Clinical Trial Evaluating NPI-001 to Treat Retinitis Pigmentosa Associated with Usher Syndrome"

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Usher Syndrome Ireland @usherireland.org · Sep 11

What happens to balance in Usher syndrome? Let’s find out what keeps us steady!

Follow along & share to help spread awareness of this rare condition impacting only approx 250 people in Ireland. 💚

#UsherSyndrome #Balance #Vestilbular #RareDisease #USHDay2025 #SpeirGorm

A cut-out of a young toddler walking. Text reads “What happens to balance in Usher syndrome? “.

A image of a toddler walking, appearing unsteady and holding on to an adult behind them, towards a sofa with an adult behind them. Text reads “The vestibular system helps us maintain balance. It includes the semicircular canals in the inner ear, which detect movement. Tiny hair cells and fluid in the canals send signals to the brain, helping us stay steady.”

Text reads “In USH1, the tiny hair cells in the vestibular system are often compromised at birth. This can cause delays in sitting, crawling, or walking in children. The vestibular system also works with the eyes to maintain balance. As vision loss progresses, balance difficulties may become more noticeable.”. Underneath is a cut-out of a woman with one hand outstretched and the other on her head as she appears unsteady.

Text in circle reads “Not everyone with Usher syndrome has balance problems. Many people adapt naturally over time. Babies and young children with USH1 may benefit from physiotherapy or vestibular rehabilitation.”. Behind the circle are several icons representing balance.

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Reposted by Usher Syndrome Ireland

retinaint.bsky.social @retinaint.bsky.social · Sep 9

Are you a young person living with a retinal condition? Register today for the Retina International Youth World Conference! Saturday, September 27 at 4pm CET> us06web.zoom.us/meeting/regi... #Conference #Science #Retina #RetinaYouth

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Usher Syndrome Ireland @usherireland.org · Sep 4

(Post 2/2) What happens to vision in Usher syndrome? Let’s take a look in today’s post!

Follow along & share to help spread awareness. 🩷

#USDay2025
#UsherSyndrome #UsherSyndromeAwarenessDay #RareDisease #RP #RetinitisPigmentosa

Text “Vision loss is part of all types of Usher syndrome. When it starts and how it progresses can depend on the type and even then, it’s different for each person, even within the same USH subtype. Everyone’s experience with vision loss is unique. A range of tools, technology, and supports can help, depending on individual needs.”. Text is in a circle on a background showing icons of guide dog, canes, braille, mobile phones with magnifiers.

Text “Repost. Follow. Help spread USH awareness by reposting and following us. We’ll be diving deeper into Usher syndrome and its symptoms in the lead-up to #USHDay2025 on 20th September.”. A cut-out of a man making a heart shape with his hands.

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Usher Syndrome Ireland @usherireland.org · Sep 4

What happens to vision in Usher syndrome? Let’s take a look in today’s post!

Follow along & share to help spread awareness. 🩷

(Post1/2)

#USDay2025
#UsherSyndrome #UsherSyndromeAwarenessDay #RareDisease #RP #RetinitisPigmentosa

Text “What happens to vision in Usher syndrome?”. A cut-out of a woman holding two fingers on one eye.

Text “At the back of the eye is the retina. It’s lined with millions of light-sensitive cells known as rods and cones. Rods help us see in dim light. It also gives us peripheral vision. Cones help us see colour, detail, and depth in bright light.” An anatomy of an eye highlights the retina and icons of a rod and cone.

Text “Retinitis pigmentosa (RP), a symptom of Usher syndrome, is an eye-condition where these rod and cone cells slowly die. Rods are usually affected first leading to poor night vision and tunnel vision. This is why night-blindness is often the first sign of RP.”. A cut-out of a woman appearing to have an ‘aha’ moment.

Text “The fovea lies at the centre of the retina and is densely packed with cone cells. While rods degenerate first, cones often stay intact until later helping preserve central vision. This is why many people with Usher syndrome keep useful central vision for reading, colour, and detail well into the later stages.”. Several icons of cones are seen.

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Usher Syndrome Ireland @usherireland.org · Sep 2

(2/2) What happens to hearing in Usher syndrome?

In the background are several icons of hearing aids, both bte and ote processors (for cochlear implants) and hands signing. Text in circle at front reads “Some people use hearing aids to access sounds and speech. Cochlear implants can also support access to sound and speech when hearing loss is severe. For others, sign language is a primary and preferred way to communicate.”.

A cutout of a girl and a boy looking through their hands making a heart shape. Text in text box reads, “Repost. Follow. Help spread USH awareness by reposting and following us. We’ll be diving deeper into Usher syndrome and its symptoms in the lead-up to #USHDay2025 on 20th September.”.

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Usher Syndrome Ireland @usherireland.org · Sep 2

What happens to hearing in Usher syndrome?

Dyk: Usher syndrome is the leading genetic cause for deafblindness, yet people with this condition have normal vision at birth!

(1/2)

#RareDisease #Speirgorm #HearingLoss #Deaf #USHDay2025

A cut-out of a girl wearing a cochlear implant. Text in image reads, “What happens to hearing in Usher syndrome?”.

Text on the top reads “Inside the inner ear is the cochlea.” and “It’s filled with thousands of tiny hair cells.” with an outline of a cochlea in between. Below is a speech bubble with text “These cells turn sound into signals the brain understands and hear.” and a cut-out of a man listening with a hand behind his ear.

Text in image reads “In Usher syndrome, many of these tiny hair cells are damaged from birth or over time. This is called sensorineural hearing loss. The more damage, the greater the hearing loss.”. Below is a graphic of healthy and damaged hair cells.

In text boxes the following text “Some people are born with little to no hearing (often in USH type 1). Some people are born with mild to severe hearing loss (often in USH type 2). Some people are born with no hearing loss (often in USH type 3 & 4). For some with USH type 2 and for all those with types 3 & 4, hearing loss is progressive.”.

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Usher Syndrome Ireland @usherireland.org · Aug 28

Do you know what is Usher syndrome? Here’s a simple intro to get you started!

Over the next few weeks, we’ll take a deeper dive into Usher syndrome and its symptoms in the lead-up to #USHDay2025 on 20th September.

Follow along & share to help spread awareness. 💛

#RareDisease #SpeirGorm #Awareness

A cut-out of a young girl looking through her hands making a heart shape above a text box. Text in the text box reads, “Repost. Follow. Help spread USH awareness by reposting and following us. We’ll be diving deeper into Usher syndrome and its symptoms in the lead-up to #USHDay2025 on 20th September.”.

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Usher Syndrome Ireland @usherireland.org · Aug 28

Do you know what is Usher syndrome? Here’s a simple intro to get you started!

Over the next few weeks, we’ll take a deeper dive into Usher syndrome and its symptoms in the lead-up to #USHDay2025 on 20th September.

Follow along & share to help spread awareness. 💛

#RareDisease #SpeirGorm #Awareness

A cut-out of a boy looking through a magnifying glass with one eye. Text reads, “What is Usher Syndrome?”

A background wallpaper of several eyes, ears, and person icons. Text in image reads, “Hearing loss - mild to profound, at birth or later”, “vision loss - normal at birth, progressive loss leads to night-blindness & tunnel vision” and “balance - some, but not all, experience issues with balance” . There is a plus symbol in between each text box.

Above an image of the earth, text reads, “How Rare? Estimated around 12,000 babies are born with Usher syndrome each year. Possibly up to 700,000 people worldwide are living with USH.”

Alongside several icons of DNA strands, text reads, “Currently, there are four types of Usher syndrome with many subtypes. Each type is usually distinguished by the severity of hearing loss at birth & onset of vision loss. Only genetic testing can confirm Usher syndrome.”

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Usher Syndrome Ireland @usherireland.org · Aug 13

Exciting opportunity for teens with Usher syndrome - free Robotics Coding Workshop will take place at TCD where teens can learn coding, connect & have fun with peers in a friendly, supportive environment.

For more info, email Dr Katie O’Connor: [email protected]

#UsherSyndrome #Coding #UsherKids

Text in image, 'Vision Code Robotics Workshop, Date: 28th August, 11am to 1pm. Venue: TCD Priniting House, An Mheitheal room. For more information, email Dr Katie O Connor at oconnk33@tcd.ie.'. A picture of a robotic with wiring, eyes, and wheels.

Usher Syndrome Ireland @usherireland.org · Jul 24

Our recap of #USH2025 - International Symposium on Usher Syndrome is now live, highlighting the exciting research & innovative work currently underway to find treatments for this rare disease: usherireland.org/ush2025

#UsherSyndrome #Genetics #IRD #Research #IRDs #HearingLoss #RP

A collage of six images: five young adults from the youth panel sitting on stage with the USH2025 screen behind them; the Congrestival programme resting on someone’s lap; Carol and Deborah, founders of Usher Syndrome Ireland, standing side by side in front of a stage; a photo from the Can I Catch Your Eye exhibition; Prof Ronald Pennings, Dr Erwin van Wijk, and Carol Brill in front of a research poster; and a graph showing the number of Usher syndrome research publications from 1936 to 2021, with a sharp increase in recent years. Centre caption reads: “USH2025 – What We Learned.”

Reposted by Usher Syndrome Ireland

Harvard Brain Science Initiative @harvardbrainsci.bsky.social · Nov 27

New research delivering a corrected version of the faulty gene that causes Usher syndrome — PCDH15 — was able to restore hearing in mouse models and also showed potential in retinal organoids and nonhuman primates for improving vision.
hms.harvard.edu/news/second-...

Second Gene Therapy Shows Promise for Syndrome Involving Blindness, Deafness

Method restored hearing, showed signs of improved vision in animals and organoids

hms.harvard.edu

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Usher Syndrome Ireland @usherireland.org · Jul 15

Ready to gain a fresh perspective & the benefits our previous client experienced? More info & sign-up form: forms.gle/Juu4mabKfatH...

This initiative is supported by @amgen.bsky.social ’s 2024 #RareIs grant. It’s open to anyone over 16 living in Ireland who has a connection to Usher syndrome.

ID: Text overlay on a faded image of a woman speaking to another woman on a computer. The text reads, “Empower USH – Personal Coaching for Confidence. Working with life coach Miriam has been so helpful to me. I was able to clarify a lot of my anxieties and Miriam helped me to approach these issues with a new perspective which means I approach problems with positivity. I feel so much better mentally and physically. Thanks so much to Miriam and thanks to Usher Syndrome Ireland for providing this service. Client Testimonial.”

Usher Syndrome Ireland @usherireland.org · Jul 9

📢 Calling all healthcare professionals in Ireland! Learn more about Usher syndrome by availing of a free resource pack sent to your clinic by emailing the address to [email protected]

You can explore everything inside & watch our animation video here: usherireland.org/are-you-ushe...

Caption, "USH Awareness Packs for Healthcare Professionals". A cut-out image displays items from the pack, including a booklet on understanding Usher syndrome, a leaflet for patients, “See Like USH” simulation glasses, ear plugs, leaflets on enhancing patient experience in clinical settings, and a card with a QR code linking to an animation video.

Usher Syndrome Ireland @usherireland.org · Jul 2

🌟 From the bottom of our hearts – thank you Grace 🌟

Grace recently took on the Belfast Marathon in support of Usher Syndrome Ireland, raising an incredible €1,244.91. We are ever so grateful to Grace, and to supporters like her who help raise much-needed funds to help keep our work going. 💚

Image two – Grace stands alone, smiling proudly as she holds up her medal.

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Usher Syndrome Ireland @usherireland.org · Jun 27

Behind every stata are individuals + families who are navigating unique challenges & striving for a future where deafblindness does not limit their potential. Our #ImNotInvisible campaign aims to highlight these challenges & push for the recognition of deafblindness to be implemented in Ireland.

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