Usher Syndrome Awareness Day – September 17, 2022, history, Why we celebrate significance, importance
Usher Syndrome Awareness Day is observed on the third Saturday of September and falls on September 17 this year. This rare genetic disease has long gone unrecognized, but many are working hard to bring it to light. Usher syndrome affects eyesight, hearing, and mobility.
The main issue is that it could take years for these symptoms to develop. Children are often diagnosed with hearing loss first, unbeknownst to them and their parents that they may go blind as well. This disease has no known cure, but much research is being done to help those suffering from it. Join us on our mission to raise awareness and encourage donations.
HISTORY OF USHER SYNDROME AWARENESS DAY
Usher syndrome is a serious genetic condition that causes varying degrees of deafness, blindness, and mobility issues. This disease is rare, and as such, has gone undiagnosed for a long time. It’s estimated that about 400,000 all over the world suffer from this disease. The disease was recognized by Charles Usher. Charles Usher was a Scottish ophthalmologist born on March 2, 1865. He identified the disease in 1914.
This disease is inherited in a specific chromosome pattern where two defective genes are present. People who carry one mutation of the disease are not affected by it but can pass it down to their children. For someone to be impacted by the disease, they have to inherit the mutation from each parent.
The disease has several categories distinguishable by the severity of the symptoms and the age at which they appear. Type One are born completely deaf and struggle with balance problems while Type Two and Three experience normal hearing that deteriorates with time. All types experience retinitis pigmentosa, a condition that impacts eyesight and eventually leads to blindness.
Each time comes with its own challenges, but diagnosing the patient earlier on in life can help them prepare for potential vision or hearing loss. Patients can get hearing aids and cochlear implants and learn other ways of communication, such as sign language and braille.
USHER SYNDROME AWARENESS DAY TIMELINE
1858
Discovery
The German ophthalmologist, Albrecht von Gräfe, is the first to describe the symptoms of the disease..
1865
A Hero is Born
Charles Usher is born on March 2.
1914
Further Research
Charles Usher discovers that the disease is due to a recessive gene inherited from both parents.
2014
Raising Awareness
In her effort to raise awareness for the disease, Jo White publishes an autobiographical book entitled “Breaking the Silence.”
HOW TO OBSERVE USHER SYNDROME AWARENESS DAY
Donate to fund the research
Research is expensive. Visit https://www.cureusher.org to donate any amount you can to aid in research for the disease. Alternatively, you can visit https://www.ushersyndromesociety.org/tactile-collection/tactile-collection.html to purchase merchandise to show your support, the proceeds of which help fund research.
Educate yourself
Do your research about the disease by hearing from those who live with it. One of those people is Molly Watt whose TED Talk you can watch online..
Spread awareness
Host a local event in your school, hand out pamphlets, and tell others to donate whatever amount they can. The more awareness, the more research can be done.
5 FACTS ABOUT USHER SYNDROME
A cure could be on the horizon
Testing on animals showed that gene therapy could restore balance and hearing in mice.
It’s more common within some ethnicities
Rarely anyone outside the Ashkenazi Jewish and Finnish populations is diagnosed with Type Three.
Relative marriages
A child is more likely to have Usher syndrome if their parents are related than if their parents are not related but carry the same gene mutation.
The symptoms can start anytime
The symptoms of Usher syndrome often begin in childhood or at birth, but they can start later in life and continue to worsen.
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Progress is being made
Newborns now get hearing screens, which helps lower the age children are diagnosed with hearing loss by about six months.
WHY USHER SYNDROME AWARENESS DAY IS IMPORTANT
It raises awareness
This important holiday brings this lesser-known disease to our attention, so we can advocate for those who can’t. Awareness holidays need us to reach out and spread the news.
It helps fund scientific research
Medicine is constantly progressing and there is much research being done on genetic diseases. Educating people about this disease helps encourage and fund research.
Early diagnosis
Spreading the word about Usher syndrome could help parents get their children tested for the gene at a younger age. This could prevent a lot of trauma later in life.
USHER SYNDROME AWARENESS DAY FAQS
Is Usher syndrome preventable
Usher syndrome is a genetic disease that is, unfortunately, neither preventable nor curable.
What is the life expectancy?
While Usher syndrome can reduce a person’s quality of life, it’s not known to affect life expectancy.
Are people born with Usher syndrome?
People with Usher syndrome are born with it, but they may not be diagnosed until they’re children or teenagers.
