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Usher syndrome - the most common cause of hereditary deafblindness

Raise your hand if you know what Usher syndrome is. No? Probably not too many people do, but it happens to be the most common cause of hereditary deafblindness. A couple of weeks ago, I had the incredible pleasure and honor of meeting Nancy O'Donnell, the Director of Outreach for the Usher Syndrome Coalition, who has been working with the deaf and deafblind communities for close to 40 years. She came to speak with our genetic counseling students, not only to teach us all about Usher syndrome, but to help us understand the challenges of living with Usher. In addition, we were lucky enough to have with us Rebecca Alexander, an author, psychotherapist, group fitness instructor, advocate, and extreme athlete who is almost completely blind and deaf due to Usher syndrome. She was the keynote speaker at the annual conference of the National Society of Genetic Counselors two years ago, and she brought the house down. To say the room was electric again two weeks ago with our students would be an understatement. What these incredible women gave to our students was not a lecture, but an experience we will all remember for decades. The lessons we learn are so much deeper, so much richer, so much more meaningful when told to us by those living it.

I am delighted that her life is rich and colorful, even if she can't physically see it the way we do.

Janice Berliner, 2021

Usher syndrome is a rare genetic disorder primarily characterized by sensorineural hearing loss (an impaired ability of the inner ear and auditory nerves to transmit sensory input to the brain) as well as retinitis pigmentosa (RP), a condition of the retina that causes progressive vision loss and often complete blindness. The hearing loss may be profound or mild, depending upon the clinical subtype, and may be progressive. The vision loss caused by RP may begin during childhood or later in life, and often first presents with difficulty seeing at night or in low light. Issues with balance are also a feature for some people affected by Usher syndrome. There is currently no known cure for RP, although researchers are working on genetic and other therapies to repair or reverse vision loss associated with RP as well as hearing loss.

Usher syndrome affects approximately three to ten in 100,000 people worldwide, with certain ethnic groups having higher than average numbers of affected individuals. Researchers have identified three clinical types of Usher syndrome, distinguished by the underlying genetic cause. The average age at which symptoms appear, and the severity of them, varies by type. Once a person is diagnosed, genetic testing can usually identify the type, which can help with prognosis and treatment. Usher syndrome is inherited as an autosomal recessive genetic trait, which means both parents must be carriers, and must both pass it on in the same pregnancy, for the child to be affected. Two carrier parents have a 1 in 4 chance of having an affected child with each pregnancy.

While Usher syndrome has no cure, early detection is very important so that support and education can begin as soon as possible. Some of this support may include hearing aids, cochlear implants, hearing/auditory training, low vision support, speech, physical, and occupational therapy, orientation and mobility training, and genetic counseling. Communication options should be explored as early as possible, to allow the child to have a strong language base. While hearing aids or cochlear implants will benefit most infants and children with Usher syndrome, there is most certainly controversy over whether a deaf person needs to hear, or can be quite happy and successful as part of the deaf community. Learning American Sign Language is critical, I learned from Nancy and Rebecca, even for someone with hearing aids or cochlear implants. Devices fail, break and get lost, and a deaf person (especially one who also has low vision), should never be left without a way to communicate. Those who sign visually may need to transition to tactile signing as their vision decreases.

Rebecca admits to having moments when she feels sorry for herself, or at the very least is frustrated by the continual loss of her hearing and vision. But she also explained that her life experiences, her deep friendships, and her wildly positive outlook have all been shaped by Usher syndrome. I am delighted that her life is rich and colorful, even if she can't physically see it the way we do. In her words, "I've always had a lot of energy, but having a condition like this really does put life in perspective. I don't have time to sit around and feel sorry for myself." Do yourself the supreme favor of reading Ms. Alexander's book, Not Fade Away: A Memoir of Senses Lost and Found (https://www.rebalexander.com or https://www.amazon.com/Not-Fade-Away-Memoir-Senses-ebook/dp/B00INIYG4C/ref=sr_1_2?dchild=1&keywords=not+fade+away&qid=1630985929&s=books&sr=1-2). You'll be so glad you did!


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