Introduction to Usher Syndrome
Usher Syndrome is considered to be a very rare combination of variable vision loss, hearing loss, and balance issues. Vision, hearing, and balance issues occur at different levels at varying stages of life.
Today, many children are tested for hearing issues at birth. This was not always the case. If there is reason to suspect that a person with hearing loss may eventually have vision loss as well, doctors may test for Ushers.
There may be many undiagnosed cases among adults who did not know that their vision and hearing loss are connected. In previous generations, including people who are middle-aged and older, many doctors did not know that Usher Syndrome existed. Or, did not connect the vision, hearing, and balance issues.
There are many genetic markers that can indicate whether or not a person has Usher Syndrome, and which sub syndrome they may have. However, insurance won’t always cover genetic diagnosis. Joining clinical trials increases the likelihood that a person may discover which sub syndrome they have.
Usher Syndrome 1 has nine sub syndromes. While each of these is a little bit different, Usher Syndrome 1 is marked primarily by profound deafness at birth. People with Usher type 1 will also have balance problems, first indicated by difficulty rolling over or sitting up as an infant. They will have some vision. Their night vision generally begins to decrease before age ten.
With intervention and education, a child with Usher Syndrome 1 can lead an almost normal life. While hearing aids and implants may not help, they can learn sign language to help them through the early years. They will also learn braille and be able to rely on a braille display in order to communicate with the world around them as their vision decreases.
There are new types of sign language that are being developed. Finger spelling, though slow, has been around a long time. However, unlike traditional sign language, people don’t have to rely on vision to see it.
A new form of haptic tactile signing is being developed, that is often done as signs drawn on the back by an interpreter. In many ways, this tactile signing is a form of contracted sign language that is felt, rather than seen.
Haptic Sign Language may not be appropriate for all children, or for all adults. Not everyone is comfortable with touch. Or, feels safe when touched by others, especially outside of a small trusted circle of family and friends. In these cases, a braille display may be a more comfortable choice.
Haptic Sign Language may also be very difficult in certain situations. Particularly winter, when multiple layers must be worn, along with heavy coats. It simply may not be felt, or felt correctly. In some places, having someone stand, or sit directly behind the deaf and blind individual may be impractical, dangerous, or not possible. Especially in places with high backed chairs. Again, this may be the place for a braille display, or one of the future braille Ipads.
Usher Syndrome 2 is categorized by moderate to severe hearing loss at birth. There are several subcategories of Usher 2. It is possible, that a child whose hearing is not tested at birth may not even be aware of the hearing loss until they prepare to enter school, or other busy noisy situations. Children with Usher 2, may not begin to show decreased night vision until late childhood, or early teen years. It is possible, that they may not realize they have night blindness until early adulthood, if they’re not frequently in low lighted situations. Balance problems do not usually occur with Usher Syndrome 2. However there is one subcategory that may have balance issues to a lesser degree than people with Usher 1 or 3.
Children with Ushers 2, are at a greater risk of not being aware that they will lose their vision until a very difficult time in their lives. Many times, ophthalmologists, optometrists, and other specialists are not aware of Usher Syndrome, and do not make the connection between hearing loss, and vision loss. Vision loss may only noticed by the child, and not recognized by the adults around them. Each time the child grows accustomed to their current vision loss, their clumsiness decreases. They suppose their clumsiness is age, or growth spurt related, and expect to grow out of it. It can often be difficult to get a diagnosis at this stage. And it can come as a greater shock to the parents, and teen, at often a most vulnerable age.
Many feel like all hopes and dreams have been totally shattered. At this stage, parents may recognize that it is going to be difficult for them to adjust to living in the world of the deaf and blind. It’s an unexpected situation, and often, they have no role models in the local community of a deaf and/or a blind person, much less a deaf and blind person, who has been successful at a career, and family, or even in their personal life.
The Internet is helping to change the feelings of isolation. There are now many examples of books and blogs of people who are both deaf and blind who are successful in careers, family, and life.
Don’t let the most difficult time of life, the teen years, keep someone from doing everything they want to do. Even though the level of deafness will increase, there are hearing aids and implants that can help. As those implants improve, they will be able to help even more. Even with vision loss, at this stage it is still easier to learn braille than at a later age. Braille can be used to label, read, and write. With a braille display there is no limitation to how far a person can go, or what they can do.
One part of life teens most often regret, is the loss of driving. Although it is a privilege, it is also required by many employers. Teens can plan for the day the self driving cars become available for the deaf and blind. Then they can program them for where and when they need to go.
Usher Syndrome 3 is referred to by some people with Usher Syndrome as the adult onset Ushers. This is the most frequently overlooked, and under-diagnosed version of Ushers. Hearing loss at birth is minimal. It will progress in childhood, teen years, and into adulthood. By middle adulthood, most people with Ushers 3 wear hearing aids.
It is often around this time, that ophthalmologists or optometrists are first beginning to notice vision problems. However, night vision difficulties may begin as early as in the teens, or early adulthood. This loss of night vision may simply be passed off as common, as it happens to a lot of people.
People with Ushers 3 often have balance issues, However they may not be as profound, or noticeable, as those with Usher 1. They may be noted as clumsy, or simply not paying attention to their surroundings.
People may be in their late 30s or early 40s before they begin trying to seek answers as to why they have balance issues, hearing issues, and vision issues.
Even with hearing tests at birth, Usher Syndrome 3 would be missed, due to close to normal levels of hearing. Unless a person has a reason to believe that they may have Usher Syndrome as an adult, they are less likely to have been tested for the genetic markers.
The strangest thing about trying to receive a diagnoses as an adult is convincing the ophthalmologist, optometrist, audiologist, and general doctors to understand the reasoning for wanting a diagnosis. After all, there’s no cure, so why does it matter? This is often why people with Ushers 3 may take ten, or more years, to receive an accurate diagnoses. Each doctor will treat their own individual areas of concern, while ignoring the correlation between the three.
The audiologist will give a hearing aid, if insurance will cover it, and pay no attention to the vision or balance issues. The optometrist, or ophthalmologist will prescribed eye glasses and other low vision devices for his long as they can, ignoring the hearing and balance problems. After all, lots of people have those. They’ll simply refer the patient back to their general doctor. And the general doctor will give medications for the balance issues, and simply refer the patient back to the audiologist, optometrist, and ophthalmologist for vision and hearing problems. Or, all three doctors may want to pass off balance, hearing, and vision issues as simply sinus and allergy symptoms.
It can be a vicious cycle.
The sooner a person with Usher Syndrome 3 begins learning braille, screen readers, and other assistive technology, the better they will do. It is still possible to learn braille at any age, although it becomes more difficult if the skin on the fingers has become hardened. Memory does play a part. However, learning is still possible.
“103 Haptic Signals English” World Association of Sign Language Interpreters accessed 03/01/05 http://wasli.org/wp-content/uploads/2013/07/103-Haptic-Signals-English.pdf
“Social Haptics” Deafblind Information by Senses Australia accessed 03/01/05 http://www.deafblindinformation.org.au/about-deafblindness/deafblind-communication/social-haptics
“Usher Syndrome” Cleveland Clinic accessed 03/01/05 http://my.clevelandclinic.org/health/diseases_conditions/hic_Usher_Syndrome
Wallber, Josara AuD, CCC-A “Understanding Usher Syndrome” ASHA American Speech-Language Hearing Association accessed 03/01/05 http://www.asha.org/aud/articles/UsherSyndrome/
“What are the characteristics of the three types of Usher syndrome?” National Institutes of Health accessed 03/01/05 http://www.ushersyndrome.nih.gov/whatis/types.html
“What Is Usher Syndrome?” National Institutes of Health accessed 03/01/05 http://ushersyndrome.nih.gov/whatis/
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