Our Phenom of this month, Danny Delcombre, has a
condition called Usher syndrome, a disease affecting more than half of the
estimated 16,000 deaf-blind persons in the United States. It is the most common
condition involving both hearing and vision problems. The major symptoms of
Usher syndrome are hearing impairment and an eye disorder called Retinitis
Pigmentosa (RP) in which vision worsens over time. Some people with Usher
syndrome also have balance problems.
Usher syndrome is inherited or passed along from
parents to their children through their genes. These genes contain the
instructions that tell cells what to do. Each child inherits two copies of each
gene, one from each parent. When genes are altered or mutated, conditions such
as Usher syndrome may develop.
There are three types of Usher syndrome:
People with Type 1 tend to be profoundly deaf
from birth and have severe balance problems, and many obtain little or no
benefit from hearing aids. Most use sign language as their primary means of
communication.
Type 2 presents as children being born with
moderate to severe hearing impairment and normal balance. Most of these
children perform well in regular classrooms, can benefit from hearing aids and
most commonly use speech to communicate. Retinitis Pigmentosa begins to appear
shortly after the teenage years.
Type 3 children usually have normal hearing and
normal to near normal balance. Hearing worsens over time. Children develop
noticeable hearing problems by their teenage years and usually become deaf by
mid- to late-adulthood. Night blindness usually begins sometime during puberty.
By mid-adulthood, the individual is usually blind.
Presently,
there is no cure for Usher syndrome. The best treatment involves early
identification in order to begin educational programs. The exact nature of
these educational programs will depend on the severity of the hearing and
vision impairments as well as the age and abilities of the individual. Mobility
training, communication services and independent living training that may
include Braille instruction, low vision services or auditory training might
help.
Current
research is aimed at locating the genes that cause the syndrome and identifying
the function of those genes. Locating these genes and discovering the role they
play will ultimately permit early diagnosis, offer genetic counseling, and may
eventually provide treatment options.