Usher Syndrome Awareness Day 2023: Date, History, Facts about Usher Syndrome

This year, Usher Syndrome Awareness Day is observed on September 16, the third Saturday of September. This rare genetic disease has long gone unrecognised, but many are working diligently to bring it to light. The Usher syndrome impairs vision, hearing, and mobility. The primary concern is that it may take years for these symptoms to manifest. Frequently, children are initially diagnosed with hearing loss, unsuspected to them and their parents that they may also become blind. This disease has no known cure, but extensive research is being conducted to aid its victims. Join us in our efforts to increase awareness and solicit donations.

The background of Usher Syndrome Awareness Day

Usher syndrome is a severe genetic disorder that causes variable degrees of deafness, blindness, and mobility problems. Due to the rarity of this disease, it has been misdiagnosed for a long time. It is estimated that approximately 400,000 people worldwide struggle from this illness. Charles Usher recognised the condition. Charles Usher was born in Scotland on 2 March 1865 as an ophthalmologist. In 1914, he identified the disease.

This disease is inherited through a specific chromosome pattern that contains two defective genes. Carriers of one mutation of a disease are immune to its symptoms but can transmit it to their offspring. To be affected by the disease, an individual must inherit the mutation from both parents. The disease is divided into distinct categories based on the severity of the symptoms and the age at which they manifest. Type One individuals are born completely deaf and struggle with equilibrium issues, whereas Types Two and Three individuals have normal hearing that deteriorates over time. Retinitis pigmentosa, a condition that impairs eyesight and eventually causes blindness, affects all types.

The earlier a patient is diagnosed with vision or hearing loss, the better prepared he or she will be for potential vision or hearing loss. Patients can get hearing aids and cochlear implants and acquire other ways of communication, such as sign language and braille.

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5 FACTS REGARDING USHER SYNDROME

Animal tests demonstrated that gene therapy can restore balance and hearing in rodents.

Rarely is Type Three diagnosed outside of the Ashkenazi Jewish and Finnish populations.

A child is more likely to have Usher syndrome if their parents are related, as opposed to if their parents bear the same gene mutation but are unrelated.

Symptoms of Usher syndrome typically manifest in childhood or at birth, but they can also manifest later in life and worsen over time.

Now, newborns receive hearing screenings, which helps reduce by approximately six months the age at which children are diagnosed with hearing loss.

USHER SYNDROME AWARENESS DAY DATES