Usher Syndrome

Life is so unpredictable, some days are so bright and sunny and at times, one may not like the way things occur in their life. But the best thing about our life is that it always teaches us something in return. In our journey to explore the hidden and inquisitive side of life, we have come across many people who are different. Some individuals are not perfect; they suffer from some kind of disability. Some individuals are born with certain kinds of defects while some get it through some accident. At this point life indeed would be a challenge for them.

There are some individuals in this world, who are born with hearing impairment or visual impairment. Such people have a dark and silent world of their own. There are others who are born fine but after certain time due to various factors, their vision diminishes. People suffering from Usher syndrome are one of those unfortunate ones who gradually lose their vision. Usher syndrome is the most common condition that involves both hearing and vision problems. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndrome are hearing impairment and retinitis pigmentosa, an eye disorder that causes a person's vision to worsen over time (Usher 1914). Some people with Usher syndrome also have balance problems. Von Graefe, in 1858, (Hess-Rover et al, 1999) was the first to describe the concurrence of deafness and retinitis pigmentosa. However, the syndrome was named after Charles Usher, who was a British ophthalmologist, who believed that the condition was inherited or passed from parents to their children. Approximately 3 to 6 percent of all deaf children and perhaps another 3 to 6 percent of hard-of-hearing children have Usher syndrome. In developed countries such as the United States, about 4 babies in every 100,000 births have Usher syndrome (NIDCD Report, 2005).

II CAUSESAND SUBTYPES:

Usher syndrome is an inherited syndrome that is passed from parents to their children through their genes. Genes are located in every cell of the body, except for red blood cells, which don't have a nucleus (Zanden, 2003). Genes play an important role in giving traits to an individual. Genes are inherited characteristics that are responsible for the hair color, skin color and for the development and progress of various body parts. Each person inherits two copies of each gene, one from each parent (Zanden, 2003). Sometimes genes are altered or mutated. Mutated genes may cause cells to act differently than expected (Zanden, 2003). People suffering from Usher syndrome have these mutated genes which cause their disability. There are three types of Usher syndrome.

1) Usher syndrome type 1

2) Usher syndrome type 2

3) Usher syndrome type 3

Type 1 and 2 are the most common types of Usher syndrome. Type 1 is known as an autosomal recessive disorder. Children who suffer from this syndrome are profoundly deaf from birth and have severe balance problems (Vernon, 1969; Vernon & Hicks, 1983). Some of the children obtain little or no benefit from hearing aids. Most of these children use sign language to communicate with one another. Children who suffer from balance problems are slow to sit without support and rarely learn to walk before they are 18 months old. These children usually begin to develop vision problems by the time they are ten. Visual problems most often begin with difficulty seeing at night, but tend to progress rapidly until the individual is completely blind (Vernon, 1969)

In type 2, Children are born with moderate to severe hearing impairment and undergo the progressive loss of vision from adolescence onward (Kimberling & Moller, 1995). Children suffer from blind spots that begin to appear shortly after the teenage years. Of persons who are deaf-blind, perhaps 50 percent have Usher syndrome (Smith et al., 1994).

Children born with type 3 have normal hearing and normal to near-normal balance. Hearing worsens over time. However, the rate at which hearing and sight are lost can vary between affected individuals, even within the same family (Vernon & Hicks, 1983). Children develop noticeable hearing problems by their teenage years and usually become deaf by mid- to late adulthood (Kimberling & Moller, 1995). Night blindness usually begins sometime during puberty. Blind spots appear by the late teenage years to early adulthood. By mid-adulthood, the individual is usually blind.

III IMPORTANT ISSUES

Out of the three subtypes explained above, this paper deals with usher syndrome type 1. According to the U.S. Department of Education, 4 out of every 10,000 school children suffer from visual impairment (Smith, 2000). Parents of the children, who are diagnosed with this syndrome, do not suffer from hearing or visual impairment. Hence when parents find out about their child they are completely shattered down. Since this disorder is caused by genes, parents often suffer from depression and guilt (Shaver & Vernon, 1978). This discovery is followed by a period of disequilibrium, anguish, and perplexity about educational and communication options (Vernon & Andrews, 1990). As counselors it is important to understand their state of mind. This is time, when the parents do not know what to do; they need support, empathy and reassurance from their therapist or counselor. The therapist needs to let them know that it was not their fault.

Once the child begins to develop, he or she may start experiencing problems with their vision. It is another shock for the parents and they are invariably devastated and unable to imagine what kind of life their child could possibly have. The prevalence rate for this disorder is less hence the parents usually do not know anything about it at the time of diagnosis and usually feel isolated. It is important for the counselor to double check with the parents and make sure that they know about families whose children suffer from the same condition. If they meet other parents (of children with Usher syndrome), as well as people with this condition, they could help their child in a better way. They can help them to be successful and productive adults in later years (Vernon, 1969). They can even obtain supportive counseling at the earliest stage (Singh & Guest, 1991). Doctors usually warn the parents about the future vision problems. Such parents should understand that they can communicate with their child by teaching them sign language (for deaf children) and tactile sign language (for the child who may become deaf-blind in adolescence or adulthood) since it may be easier to teach the child than the adult whose vision is compromised