First Diagnosis: Usher's Syndrome

[Colliemom]

Many of you know I posted last week about having to see an Retina Specialist due to some abnormality in my left eye that my Ophthalmologist was concerned about after he did the second laser treatment on my eye.

Well, this morning my cousin accompanied me as my medical advocate to this specialist. After a round of various tests to my eyes, some of which I had never had before along with some picture taking, the Specialist diagnosed it as Usher's Syndrome. Now, I am going to leave it up to those who are interested to look up this information to get a better idea of what this disease is. It's very complicated to explain and there are a number of websites out there regarding it. How up to date some are is another question.

This is one site with some information though: http://www.medicinenet.com/usher_syndrome/article.htm

However, I am questioning the diagnosis as just because a person has a hearing handicap, doesn't mean this is what it is. I haven't been having any noticeable problems as far as sight was concerned and the only reason I went in for an exam in the first place is cause it's been 4 years since my last exam, the frame for my original prescription broke on me last year and I was fortunately able to get a frame to fit the current glass I had in those glasses. The glass is also chipped and in need of replacing. But if you read the symptoms of the disease, I should be having problems it sounds like. None of which I have at the moment.
He said my pigment in my retina is a bit abnormal??????

I wasn't born deaf. I lost my hearing around age 5 and have been wearing hearing aids since that time. My hearing has gone down some, but that can be age related as well. I also was diagnosed with low blood pressure about 16 years ago and that might also cause some eye issues. Forgot to talk to doc about that.

But as it stands right now, I have an appt. on Oct. 16th with another doctor who specializes in this type of disease and both my cousin and I will be armed with our questions when we see him. If it is indeed Usher's, my future outlook doesn't look to great here, but who knows. Will cross one bridge at a time.

It's supposed to be a inherited gene thing from parents, but other than my dad having a bit of macular degeneration when he was about 85, there Is no history of eye issues in my family.

Anybody out there ever heard of this, had somebody in family with it or having eye issues yourselves?

[IrishIroamed]

Sue - I'm glad you're going for another opinion. I've heard of some of the eye diseases mentioned in the link, but not specifically anything about Usher's.

Make sure you have all of your thoughts written down before going, such as your hearing history, etc. and make sure he answers all of your questions.

Hoping for the best for you.

[BirdbyBird]

And now you get to sit tight through a Big Wait...for more information. ((((hugs)))) These life altering road blocks and detours are not on anyone's dream map. After reading the article it does make you wonder because they all talk about the symptoms generally showing up in childhood or teenagers. Hopefully the second opinion with clear up that and head you off in a brighter direction with the potential of much better outcomes. Keep us posted.

[JudyJB]

Sorry to hear about this, but a "bit abnormal" doesn't sound like a lot. As you say, you have not been having problems. This disease sounds like someone would have lifelong problems, and you would have known a long time ago. I was told 20 years ago, I had a slightly abnormal retina, but it never turned out to be anything.

I do not know anyone with that syndrome, but I do heartily recommend the Kellogg Center at the U of Michigan. My mother saw both a retinal specialist there and two others. They were excellent! UM also has a genetic counseling center that could also better diagnose if this was really what you had.

I've always worried about retinal problems since my mother had a detached retina and then macular degeneration. I've had bad vision as long as I remember, but for some strange reason both of my kids have always had excellent vision, which they obviously did not get from me!

[chalet05]

Sue, I am sorry you are having to go through the 'what are we dealing with' bit.

Several months ago I posted on here about the friend of one of my nieces who, at 28, is losing her eyesight. She was diagnosed with Usher's at 18. She was born deaf, but she has implants and does well. I don't know anything more about Usher's than what you can find on the Internet.

She had made a bucket list of things to do while she still had some sight and at the top was skydiving. I made that happen tho I wasn't there at the time. She has crossed a couple other things off as well.

You know we will all be keeping good thoughts and sending up prayers!

[Rufflesgurl]

Sue - so sorry you have this condition. But, sure hope you do seek a second opinion. Seems odd that you have not had balance problems, your parents did not have this, etc. Can you still see out of the affected eye? The article also mentioned high doses of Vitamin A?? You can do some research on the Internet but sometimes too much information causes worry. Have not heard of this disease before.

I'm glad your cousin went along with you - always nice to have someone else's opinion. Prayers going up for you.

Take care,
Linda

[VickieP]

Sue, I'm glad you're getting a second opinion, just doesn't sound right with that diagnosis. May I ask the reason you were given for your loss of hearing at age 5?

[Ladyhawk]

Sue, I agree with getting a second opinion. It sounds like something that doctors have to "guess at" since there doesn't seem to be a way to definitively diagnose it. Hope you just had a goofy doc and will find the answers you need.

[Yakn1]

Wow Sue! Yeah, I'd be looking for a second option too. Hope this is something more simple and be dealt with easily.

[dayspring39]

Sue my prayers are with you... I scanned several articles on the syndrome... not much went into my brain...
So glad you are going to another doctor with a list of questions...
The awesome ladies on the forum will hold you up... there may be someone here that has information for you...
Kathleen

[Bethers]

Sue, am so sorry you are having to deal with this - and now with all the waiting. I agree about getting the second (and if necessary) third opinions - as I just read and read various pages on this, and can find NONE with symptoms not showing until your stage in life. Not saying it can't happen, but just doesn't sound likely.

Hope whether Usher's or anything, that it keeps holding off and you can continue to enjoy life.

[BarbaraRose]

Sometimes doctors are quick to slap a label on something that "kind of" fits the problem. That is good that you are getting a second opinion. Now the "hurry up and wait" is the hard part...

[snowball]

I'm with everyone else a second or third opinion is needed even after the specialist ...
Don't we just wish for instant information? good luck with the waiting
sheila

[AlmostThere]

I saw a general physician because of hand and leg tremors. The Dr said he thought it was Parkinson's and to get an appt. with neurologist. Of course it was almost a month before I could get in and the waiting was awful. I walked into the exam room at neurologist's office, the Dr (from India, spoke very broken English), walks in, has a sheet of plain paper on a clipboard in which he draws a spiral. He hands me the clipboard and indicates for me to draw the same spiral in which I did. He has me hold out my hands and says, " you do not have Parkinson's, you have essential tremors. Changing your BP meds might help, but no cure. Comes with age". Changing meds didn't help. In fact it gave me a coughing side effect. Recently I decided to quite drinking coffee. Almost immediately the shaking went away, which was odd cause I only drink one cup a day, but that pretty much did the trick. So a general Dr and a specialist were both wrong.
So take charge, get another opinion and keep reading.

[rvgrammy1953]

Ditto on the 2nd and the 3rd opinion....sounds like the symptoms don't add up to the diagnosis to me, too....keep us posted...and yes, the wait is awful...