Users has many variations

[dianrez]

I felt that people should be aware that Ushers Syndrome has several
types and each may have degrees of effect; for example, I was born
profoundly deaf and at age 29 learned that I had the very early stages
of retinitis pigmentosa. At the time the opthalmologist said that I
could expect to keep central reading vision until well into old age.
It was a few years later that I learned the doctor knew since I was
age 11!

Now that I am 63, after living more than 30 years with this diagnosis,
I need not have worried about its effect on my life. Today I have good
night vision, good side vision, and only note wedges of no vision high
up in my visual field. Recently I had an eye examination and still
drive my car even at night. This with full awareness that there could
be a time in the future that my vision will not allow this, and so I
am constantly checking myself to see if I can read street name signs,
see into dark doorways and walk through dark movie theaters.

Young people need to be told as early as possible that they may have
"tunnel vision" so that their friends do not get the impression they
are being ignored and cause unnecessary problems. Soon after this
becomes used to, more ideas can be introduced, such as "need more
light to enter dark rooms" and "driving tests are very strict" "not
everyone can or needs to drive" and "bus passes are cheaper and more
convenient than owning a car".

The same advice for teenagers starting out in life applies to teens
with Ushers: get as much education as possible; train for more than
one occupation, learn skills that are applicable over a wide variety
of fields, and include great flexibility and problem solving in one's
repertoire for life.

In a time when technology is rapidly advancing and medical research
not far behind, it is not necessary to start planning for a life of
worst case scenarios. Just plan for every scenario, both visual and
non visual.

[Mark Dunning]

I was wondering if I could ask a few questions.

1) With what type of Usher were you diagnosed? Have you ever been
genetically tested to confirm it?
2) At the time of your diagnosis, were you aware of your vision
problems?
3) You seem to cope so well with your condition. Was it always that
way? What was your reaction to the diagnosis?
4) What has surprised you most since your diagnosis?
5) What advice would you give a young adult that has been recently
diagnosed? How about the parents of a young child that has been
recently diagnosed?

[Hayley martin]

no problem here are my answers,

my diagnosis was sketchy at first i didnt fully understand what the doctors were telling me he just gave me a piece of paper and said that this support group might help, on the paper said ushers syndrome which he hadnt mentioned when talking to me. At the time i was a nurse and researched the syndrome panicked and rang the secretary of my doctor up and asked her if they were saying this was what i had and she said yes! I had to ask them which type i have it has not been confirmed but i believe it is type 2 i have a hearing problem that is stable but not severe. I have been told there is no genetic testing available.
At the time of my diagnosis i wasnt having any real problems my regular optition had referred me having seen something at the back of my eye. ( i am short sighted) looking back i was working nights as a nurse and often lost my balance slightly and always needed to put a side light on in the cubicles of patients.

I always have tried to be positive i wasnt really affected by it for a long time. I was 19 when diagnosed and am now 35 its only been the last 2 or 3 years where i have really noticed deterioration and i admit am getting scared now. I just feel that the no one really understands because they cant see anything. most of the time now i think i run on luck as to wether i bump inton something or not.

What surprised me most since my diagnosis is how people who i thought were friends stop asking me out presummably because of the hassle of guiding me everywhere. also how blaze the doctors are they just fob you off everytime you see them and dont offer any support and can never answer my questions.
i would find it difficult to give advice to others i no there are a lot worse than me i am still looking for guidance myself and have no idea what to do or where to go and when to go for help. Until we got in touch with you i just kept hitting brick walls.

let me no if there is anything else you would like to no it is nice to find someone who is interested.

[dianrez]

Since it was so long ago that I was diagnosed, there are gaps in my
ability to answer your questions, but will try my best. Here goes...

1) With what type of Usher were you diagnosed?  Have you ever been
> genetically tested to confirm it?

--Types were not published then. Neither were genetic tests offered.
My family history was negative for both RP and deafness. However, I
have a son who was born profoundly deaf, like myself, and two hearing
daughters. Oddly enough, my son has an informal diagnosis of
Waardenburg Syndrome, which is totally different from Ushers and he
has no visual impairment.

2) At the time of your diagnosis, were you aware of your vision
> problems?

--No, it was a total surprise to me when I was told. There is a blog
about it: (http://dianrez.xanga.com/657728227/ushers-and-waardenburgs-
in-the-same-family/)

> 3) You seem to cope so well with your condition.  Was it always that
> way?  What was your reaction to the diagnosis?

--At first, complete dismay. Despite the doctor telling me I could
retain reading vision well into old age, thoughts of a lifetime of
blindness haunted my every thought for a while. All I knew then were
blind classmates being led about by friends and communicating with
them by their hands on my hands. Also, I kept it from everyone else,
not wanting to be stigmatized or pitied, but told my professor at the
graduate school. He put me in touch with National Eye Institute at NIH
and the diagnosis was confirmed there. For many months I continued as
usual, determined to complete studies and work as long as possible
while looking for alternatives just in case. The months became years,
and the diagnosis faded into the background. Without noticeable
deterioration in my vision, I soon disregarded it.

> 4) What has surprised you most since your diagnosis?

--How easy it has been to live with the knowledge that vision could
deteriorate in my lifetime. I had seen my father lose his vision to
glaucoma and diabetes and knew this was possible for me, too. On the
side, I learned about visual aids and tools, kept in touch with deaf-
blind professionals, and read Ushers research. Yet with my vision
remaining stable, there was no need to implement anything. I still
test myself to see if I can see in the darkest situations and how far
my vision extends to the sides.

> 5) What advice would you give a young adult that has been recently
> diagnosed?  How about the parents of a young child that has been
> recently diagnosed?

--That there is no way to predict how much vision will be lost, or how
far one could go in life. I've heard of doctors telling parents that
their child would never achieve beyond fourth grade reading level or
be able to go to college, perhaps in support of cochlear implantation.
Such doctors deserve to be permanently confined to the back rooms of
blood testing labs.

Each situation is individual and highly variable due to many still-
unknown factors. I have met people like myself, only minimally
affected and doing fine with the large amount of vision remaining, and
at the other end of the spectrum nearly blind middle-aged Deaf people
who nevertheless have employment. Several of them are professionals in
the field of deaf-blindness and work with other deaf-blind people. In
the middle are people in a variety of situations, such as two active
Deaf bloggers who are working housewives with children and write about
special setups in their homes to get around their limited vision.

Advice? Go with your dreams and modify, not eliminate that which you
love. Train for as many fields as you have talents. It's the same
advice I'd give to any young person--it is good to have more than one
career in these fluctuating times. For parents: there are aids
available today to give the maximum input, including cochlear
implants. Use them, but do not fall for the popular belief that it is
all that is needed, or that sign language is to be eliminated in favor
of "training the brain to hear". Sign language is extremely important
and needs to be developed as an efficient way to input language and
knowledge alongside the hearing aids/implants. If profound visual
impairment is in the cards, sign language may be the most efficient
way to maintain communication as it is easily felt by touch. The
Tadoma method, feeling on the face as Helen Keller did, is a difficult
way to communicate and is in less use than the tactile method of
feeling sign and fingerspelling.

Most of my deaf-blind friends use the hands-on sign language,
especially the professionals. Some who still have islands of vision
prefer to position themselves so they can see sign language. I have
read the blogs of young people with Ushers and profound deafness who
have not learned sign, and who get by on the input from their cochlear
implants. I applaud these people in being fortunate enough to have
usable hearing in this way and hope that their hearing remains stable
as does their vision. However, we all never know so it pays to have
all possible input and all possible communication skills developed
early.

With the current research into Usher's, retinitis pigmentosa and
deafness, there is a lot of reason to hope in the near future.
Meanwhile, don't wait for it. Prepare to enjoy all of life, to learn a
lot, and to be employed in many areas.

[David Zima]

I am writing on behalf of my 18 year old daughter Katelyn.{with her
permission of course}. My daughter was diagnosed with ushers type 2 in
October 2009. She was diagnosed with moderate to severe hearing loss at age
three and wears hearing aids in both ears. She has been genetically tested
though we haven't received the results. At the time of her diagnosis she had
complained of not being able to see well in the dark.
I never in my wildest dreams would have guessed that she had rp and that her
visual field is 20 25 degrees. Shes 18 active and outgoing and the guilt I
feel at not being able to realize that there was a problem is
heartwrenching. When the eye doctor told us I felt as if someone had punched
me in the stomach. My daughter has not really come to accept this diagnosis
and is going about life as usual. She will graduate from highschool this
June 2010 and looking forward to attending college 4 hours away. We gently
encourage her to join groups online and are working with state services for
support. She is very determined and has always known what she wants out of
life and we will continue to take one day at a time.

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