Common Parent Questions about Usher Syndrome

Many issues are brought to mind when a person is diagnosed with Usher syndrome. A common first question for parents is:

“How quickly will my child lose vision?”

Even when the precise gene mutation is known, a specific answer cannot be given. In general, the earlier the age of onset, the earlier vision loss is expected to require accommodations. In other words, a child experiencing night blindness at age 5 is expected to have earlier difficulty with peripheral vision than someone diagnosed with night blindness at age 15. As vision loss progresses, individuals usually have problems seeing out to the side; this is referred to as the peripheral vision. Gradually parents may notice a child stumbles more easily or may brush against someone or something while walking. The person's ability to see fine detail often remains normal for many years after initial diagnosis of night blindness. Thus, other people may be confused when explaining that a child’s vision is poor yet he or she is able to read regular print because the central vision which is used for reading may be spared for years or decades.

When should my child learn Braille?

The answer to this question certainly should be individualized. It may be difficult for individuals to transition to learning adaptive techniques such as Braille when the individual’s acuity (ability to see detail) often remains normal for a long period of time. There is a natural tendency for people to use their remaining vision long past when it is the most efficient way of performing a task. It seems especially true that people will struggle to read print rather than take the time to learn Braille. A person would be well-advised to learn Braille early to have the skill at his or her disposal. Like any language or subject, it is easiest to learn Braille when one is young but it is never too late. Individuals who are diagnosed as adults with Usher may still want to consider learning Braille to have a system to take personal notes. Braille labels can be used in many places at home and work; for instance, Braille can be used to label files, cans and boxes of food, cleaning supplies and medicines.

When should my child begin to use a white cane?

A parent may feel that his or her child is able to travel safely without a cane in most cases; however, there may be instances when a person can benefit by having a strong foundation in cane travel skills. Cane travel is usually taught by an orientation and mobility (O&M) instructor. The instructor may work with the person in areas with low lighting or at night. Even if a person has usable day vision, a person should have safe skills for emergency use such as, in case of fires or tornadoes when electrical power may be absent. In addition, children and adults often move from well lit to dark areas such as in movie theaters, parking garages and perhaps subways, where O&M skills would be helpful. Probably the biggest obstacle to using the cane is getting past the stigma of blindness. People may mistakenly think that they do not want to appear blind but what they fail to recognize is that their timidity in walking becomes more noticeable than walking confidently with a technique such as a cane or guide dog. In addition, bumping into people and failing to notice or recognize others can be misinterpreted as snobbery or being rude.

A challenge for anyone with a newly-identified vision loss is getting past the stigma of “blindness”. Society thinks of blind people as helpless, needing care and not capable of working. Overcoming the idea that this is a misguided stereotype can be the first step to a productive future. Many successful people with visual impairments say that a good attitude and learning the skills of blindness are the most important aspects of determining if someone will be successful. Keep in mind that a parent’s attitudes are often reflected in the child’s attitudes; therefore, it is often helpful for parents to get past societal stereotypes and misconceptions of blindness and visual impairments to help their children succeed.

There is a great deal of research being done in the area of Usher syndrome, hearing loss and retinitis pigmentosa. It is very possible that there will be treatments available to slow the progression of the condition or even reverse the deterioration that has already occurred. However, it would be a mistake if children or families wait only for the treatment to become available. There are too many meaningful activities and experiences to allow life to pass by.

If this article raises questions, feel free to contact Boys Town National Research Hospital’s Certified Genetic Counselor, Kristal Platt, at 531-355-6365 or Kristal.Platt@boystown.org.