Usher's Syndrome Types

http://www.eyehealthguide.net/usher-syndrome-and-its-types.html

Visual Impairments Specialist
Westminster Elementary School
http://lee.ebrschools.org/kathynicholslee
http://www.kathyskids.org
http://mskathy.proboards30.com
http://mskathyskids.blogspot.com

Woman Brightens Lives as Her Sight Dims

You have been sent an online news article from Kathy as a courtesy of argusleader.com.

Article Title:
Woman brightens lives as her sight dims
To view the contents on http://www.argusleader.com/, go to:
http://www.argusleader.com/apps/pbcs.dll/article?AID=/201104100155/NEWS/104100318

Gem of an Idea to Fight Usher Syndrome

Kathy  thought you would be interested in this:
	Gem of an Idea to Fight Usher Syndrome Arcadia jeweler and La Cañada mother team up to raise money for Eye on Jacob Foundation.... By Larry Stewart Read more >

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Life with Usher's Syndrom: What to Do?

By Trista Johnson


Trista Johnson: First, I am a fiercely independent woman who has Usher Syndrome. Second, I am a wife and a mother of three little girls. View my complete profile.
http://ttgkbjohnson.blogspot.com/

Sisters battle to keep their hearing, sight

* Please note, the sender's email address has not been verified.       You have received the following link from knl@ebrschools.org:             Click the following to access the sent link:       Sisters battle to keep their hearing, sight*                 Get your EMAIL THIS Browser Button and use it to email content from any Web site. Click here for more information.   *This article can also be accessed if you copy and paste the entire address below into your web browser. http://www.mysanantonio.com/life/Sisters_battle_to_keep_their_hearing_sight_.html?showFullArticle=y

Usher's Syndrome: http://tlc.ac.nz/newsletter/archive/tag/usher%E2%80%99s-syndrome/

A Blessing in Disguise:

http://tlc.ac.nz/newsletter/archive/tag/usher%E2%80%99s-syndrome/

Ms. K
Visual Impairments Specialist

http://lee.ebrschools.org/kathynicholslee
http://www.kathyskids.org

http://mskathyskids.blogspot.com

Third Sector Jobs: Email a Friend Job Alert

I found this job on the Third Sector Jobs website and thought you might be interested.

Welcome to Third Sector Jobs. The following vacancy as been recommended to you:

Job title: Holidays Co-ordinator
Recruiter: Sense
Description:
Could you run a holiday programme for deafblind people and manage a complex project with paid and voluntary staff?

To view this job, please click on the link below:
http://jobs.thirdsector.co.uk/job/329440/holidays-co-ordinator/?TrackID=1987

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Questions?
Email us by visiting http://jobs.thirdsector.co.uk/staticpages/600/contact-us

MD News - Dorzolamide, Usher Syndrome

http://www.mdnews.com/news/hd/2010_38/hd_643112?sms_ss=email
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Usher's Syndrome

Web 1 new result for Usher's Syndrome

Usher | Yahoo! Usher syndrome is a relatively rare genetic disorder that is a leading cause of deafblindness and that is associated with a mutation in any one of 10 genes. ... ph.m2.yahoo.com/w/search?p=Usher&sep=fp...

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Literally Blind-Sided: HLAA 2010 in Milwaukee

a blog about living with Usher Syndrome Literally Blind-Sided: HLAA 2010 in Milwaukee By Shari So then we head back to the room and talk a bit more then we leave to meet with a bunch of others with Usher Syndrome (most of us were online friends for a long time) and some brought along their spouses as SSPs (support service ... Literally Blind-Sided - http://literallyblindsided.blogspot.com/

Usher's Syndrome: Growing Up with a Deaf-Blind Mom

An article by a lady who grew up with a mom who has Usher's Syndrome.
http://www.associatedcontent.com/article/175828/ushers_syndrome_growing_up_with_a_deaf.html?cat=60

Usher Syndrome: A Genetic Disorder that Effects Vision, Hearing and Balance

http://www.associatedcontent.com/article/2812568/usher_syndrome_a_genetic_disorder_that.html?cat=70

Usher's Syndrome

 By lmg on March 23rd, 2010
Facts About Usher Syndrome
Usher syndrome is a genetic condition that effects hearing, sight and balance.

Usher syndrome is an inherited condition in which a child is born deaf
or with hearing loss, and progressively loses their vision due to a
group of hereditary diseases of the retina, known as Retinitis
Pigmentosa, or RP. With RP, the retina degenerates slowly and loses its
ability to send pictures to the brain. For Usher Syndrome to be present,
both conditions must be present and they must be caused by a single
gene. Usher syndrome effects approximately 3 to 6 percent of all deaf
children and it is believed to affect an equal number of children who
are hard of hearing. Usher syndrome, itself, is more than one genetic
condition. It is estimated that 1 in 10,000 adults have Usher syndrome
of one type or another, and approximately 4 out of every 100,000 babies
born have Usher syndrome.
Usher syndrome is an inherited disease. This means that it is passed
from parent to child. In order for a child to be born with Usher
syndrome, both parents must be carriers of the gene. If only one parent
is a carrier, the child will not have the disease, however; if both
parents carry the gene, there is a 25% chance that the child will have
the disease, a 50% chance that the child will be a carrier of the
disease, and a 25% chance that the child will neither have the disease
nor be a carrier.
There are three types of Usher syndrome. Types 1 and 2 are most common
in the United States. It is estimated that 90 to 95 percent of all cases
of Usher syndrome in the United States are either type 1 or type 2.
Read more in Conditions and Diseases
« Facts About Klinefelter SyndromeFacts About Tay-sachs Disease »Those
who are affected with type 1 Usher syndrome are deaf at birth and have
severe problems with balance. These children experience little to no
benefit from the use of hearing aids. Night blindness is present in
infancy or early childhood. By late childhood or early teens, blind
spots in the person's vision begin to appear. By early adulthood, the
person is legally blind. Children with type 1 Usher syndrome are
generally slow to sit without support and rarely walk independently
before the age of 18 months.
Those who are affected with type 2 Usher syndrome are born with moderate
to severe hearing loss and normal balance. Night blindness begins in
late childhood or early teenage years. By late teenage or early
adulthood years, blind spots begin to appear in the person's vision. The
person becomes legally blind in early to mid adulthood years. Children
affected with type 2 Usher syndrome generally benefit from the use of
hearing aids and have the ability to communicate orally. Vision problems
progress more slowly than in type 1 Usher syndrome and the onset of
Retinitis Pigmentosa is often not apparent until teenage years.
Those affected with type 3 Usher syndrome are born with normal hearing
at birth. They progressively lose their hearing in their childhood or
early teenage years. Hearing loss, once it begins, tends to progress
rapidly, over a 10 to 15 year period, until hearing loss is profound.
Balance problems vary in severity, but often progresses with age. The
rate at which hearing and vision are lost varies from person to person,
even within families where more than one person is affected. Night
blindness normally begins during puberty. By the late teen to early
adulthood age, blind spots begin to appear in the person's vision. By
mid-adulthood years, the person may become legally blind.
Usher syndrome effects hearing, vision and balance. Because of this,
diagnosis of the disorder includes testing of all three. Visual field
tests to determine the person's peripheral vision, an ERG, or
electroretinogram is performed to measure the electrical responses of
the light-sensitive cells within the eye, and an examination of the
retina and other parts in the back of the eye to determine any
abnormalities are all tests done to hearing test is performed to determine how loud sounds need to be in a
specific frequency before the person hears them. This helps to monitor
and determine any hearing loss. To test the person's balance, an ENG, or
electronystagmogram is performed to measure any involuntary eye
movements.
There is currently no cure for Usher syndrome. Early detection is best
for helping those affected learn how to cope with this disorder. There
are many educational programs available to help. Typical treatment will
include hearing aids, cochlear implants, assisted listening devices
and/or other communication methods, including the teaching of sign
language. Other services are available to help teach the affected person
how to communicate with others to the best of their ability, retain
mobility, live as independently as possible, read by using Braille, as
well as other low-vision services and auditory training.
Some ophthalmologists believe that a high dose of Vitamin A palmitate
may slow the progression of vision loss due to Retinitis Pigmentosa.
Because of this, some ophthalmologists will recommend a daily supplement
of Vitamin A palmitate at the dosage of 15,000 IU daily. Those who use
this form of treatment should be careful not to exceed the daily dose.
It is important to note that this treatment is not recommended for those
with type 1 Usher syndrome. Some guidelines are in place for those who
use this type of treatment. These guidelines include not substituting
Vitamin A palmitate with a beta-carotene supplement, not taking more
than the recommended dosage, women who are using this treatment should
stop treatment three months before trying to conceive a child due to the
increased risk of birth defects, and women who are pregnant should stop
this treatment due to the risk of birth defects. In addition to these
guidelines, a person using this treatment should not consume more than
400 IU of Vitamin E each day.
Usher disease, although not fatal, can be very debilitating for those
who are affected. Early diagnosis along with education and training can
help those individuals live a more productive and independent life. The
sooner the disorder is diagnosed, the sooner treatment can begin. If you
suspect that your child may be affected by Usher syndrome, the best
thing you can do is seek a medical opinion.
Sources for this article include:
http://www.deafblind.com/usher.htmlhttp://www.dbproject.mm.org/ushersyndrome.htmlhttp://www.medicinenet.com/script/main/art.asp?articlekey=16228&pf=3&page=1

Another Usher's Syndrome Blog

http://ushersyndromeblog.blogspot.com/

Usher's Syndrome

http://www.clarksonwest.com/ManageHealth/libraries/Default.aspx?P=474

Deaf-Blind Get Voice on Capitol Hill

This article is on the front page of the Foundation Fighting Blindness web site. Usher's Syndrome is studied here in south Louisiana--especially the southwest in the heart of "Cajun Country" because of its prevalence there. The population used to be isolated which caused the syndrome to thrive. I believe there was another such community in Italy--I forget where. I usually post articles at my nessage board but since I follow a couple of blogs on the subject...

Deaf-Blind get Voice on Capitol Hill
Usher syndrome research highlighted at congressional briefing

Imagine trying to live with the challenges of combined deafness and blindness, and at the same time, being unseen and unheard by society. That’s the unfortunate irony for the 45,000 Americans with Usher syndrome, a devastating inherited disease that robs people of their vision and their hearing.

The Foundation Fighting Blindness (FFB) and Association for Eye and Vision Research co-hosted a briefing on Capitol Hill on February 5 to educate legislators about the urgent need for increased Usher syndrome awareness, as well as research funding at the National Institutes of Health — funding that can provide much-needed childhood genetic screening and development of treatments.

The briefing featured William Kimberling, Ph.D., one of the world’s leading Usher syndrome leading authorities who conducts research at Boys Town National Research Hospital in Omaha, Nebraska, and the University of Iowa in Iowa City. He explained that the combined impact of hearing and vision loss is many times greater than deafness or blindness alone. “Deafness and blindness together is not like 1+1 = 2. It’s like 1+1 = 10,” he said. “Usher syndrome is a vicious disease.”

Moira Shea, a director on the board of FFB, gave staffers a compelling firsthand account of what it was like to be affected with Usher syndrome. She told attendees that challenges in communication from hearing and vision loss often lead to isolation and loneliness. Diagnosed at the age of 15, she said, “It was the worst news my parents ever got. There was no hope. The doctor just told my parents to send me to a school to learn Braille.”

While Shea has persevered with a successful Washington-based career and a master’s degree from Harvard, progressive vision loss has taken its toll on her. She said, “The vision loss process is like a series of cliffs. You go through life, and there’s a big drop in your vision, you adjust to it, move forward, and then there’s another cliff,” she said. “I am in a constant state of grieving.”

But thanks to the Foundation Fighting Blindness and the National Institutes of Health, there is hope for Shea and others who are challenged by Usher syndrome. The organizations are providing critical research funding to investigators like Dr. Kimberling who are driven to find answers to the relentless condition.

One immediate goal for Dr. Kimberling is to provide inexpensive and accessible genetic screening for young children who are born deaf or with severe hearing loss to determine which of them is affected by Usher syndrome. He estimates that as many as 15 percent of these hearing impaired children will eventually lose their vision. However, if children with Usher syndrome can be identified early on — through genetic and vision testing — then measures can be taken right away to preserve their vision as much as possible.

Not only does vision preservation provide these individuals with a better quality of life, it is likely to give them the opportunity down the road to benefit from an emerging curative treatment such as gene therapy, which Dr. Kimberling calls “the gold standard” for treating Usher syndrome. Additionally, he noted, by keeping individuals independent and productive, we can save much of the $2 billion that Usher syndrome costs our economy in health care and other supportive services.

The progress of vision loss could potentially be slowed by the administration of neuroprotective treatments, which are in clinical studies right now. Also, nutritional supplementation with fish oil and vitamin A appear to slow vision loss in some individuals. Even wearing sunglasses in bright outdoor light might give a person two or three years of additional useful vision.

Usher syndrome is caused by a genetic variation (a mutation) in the cells of both the retina and the inner ear. Genes lead to the production of proteins, and if a defective gene leads to a single missing or incorrect protein, it can mean serious trouble. Dr. Kimberling explained that Usher proteins in the retina work together like a crane to deliver important chemicals from one end of a cell to the other. If one protein isn’t doing its job, it’s like losing the motor or the hook or the cable, and ultimately, then the crane doesn’t work, and the health of the retina is severely affected.
Dr. Kimberling added that much of what is known about Usher syndrome is relatively new information. “Up until about the year 2000, we had no idea that such a mechanism [the crane-like structure] existed.”

Thus far, variations in nine genes have been linked to Usher syndrome, and researchers know there are more to be identified.

The three NIH institutes currently funding research for the disease are: the National Eye Institute, the National Institute for Deafness and Other Communications Disorders, and the National Institute for Child Health and Human Development. Much of the research underway not only impacts people with Usher syndrome, it is giving us important information about how all people see and hear.

Throughout his presentation, Dr. Kimberling kept emphasizing the fact that Usher syndrome research is a greatly under-funded and the condition is greatly overlooked. Few people have heard of the disease, yet it is more common than amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) or Huntington’s disease. Remarkably, over the last 36 years, only one piece of congressional legislation mentioned deaf-blindness.

Despite the challenges that lie ahead for Moira Shea, she remains positive and hopeful. “I think about the work that the Foundation is doing and it keeps me going. I know that today, any 15-year-old kid with Usher syndrome isn’t getting the news my parents got. They are being told there is hope. Most likely, there will be a treatment in their lifetime.”

Source Link: http://www.blindness.org/index.php?option=com_content&view=article&id=1462:deaf-blind-get-voice-on-capital-hill&catid=67:usher-syndrome&Itemid=123