Re: Hello =

[Guest guest]

http://WWW.nidcd.nih.gov/health/hearing/waard.asp

~Cathy~

-- RE: Hello =

>

> >

>

> >

>

> >

>

> >Waardenburg Syndrome typically includes a white streak of hair early in

>

> >life

>

> >(sometimes in toddlers, even), usually around the temple, and/or the

>person

>

> >s hair goes gray earlier than normal. Other features of WS include

>

> >differently-colored eyes (one brown, one blue, for example), wide-set

>eyes,

>

> >and hearing loss--often at birth. If the hearing loss appears later, it

>is

>

> >progressive, and typically starts around puberty.

>

> >

>

> >

>

> >

>

> >Most people with WS have one or two of the features. It runs in my

>

> >husband's

>

> >family, and pretty much everyone who had it had a white streak of hair

>and

>

> >hearing loss starting around puberty, including my mother-in-law and her

>

> >father. If there was no white streak, there was no hearing loss. My

>husband

>

> >has a *patch* of white hair that he's had since he was an infant, so

>

> >there's

>

> >a chance he has it, although his hearing is good well into his 40s now.

>We

>

> >did have our son tested for it, but the results were negative--despite

>his

>

> >first ENT's claim that if WS is in the family, then it MUST be the reason

>

> >for our son's hearing loss. Our son has none of the other features of WS

>at

>

> >all, and unlike the family pattern, he was apparently born hearing

>

> >impaired,

>

> >and his hearing has actually *improved* since he was first diagnosed at

>the

>

> >age of four months.

>

> >

>

> >

>

> >

>

> >The whistling is most likely poorly-fitting ear molds. When our son has

>

> >gone

>

> >through growth spurts, he's had to get new molds at least every 3-4

>months.

>

> >He's 12 now, and generally goes a year or so between molds, but the

>

> >whistling is the biggest tip that he's outgrown the current pair.

>

> >

>

> >

>

> >

>

> >Kiminy

>

> >

>

> >

>

> >

>

> > Carroll wendymattinglycarroll@...> wrote:

>

> >

>

> >She did not need

>

> >

>

> >new hearing aids. They just turned them up significantly. The one thing I

>

> >

>

> >have noticed is they whistle a lot more than they did. If she is lying

>down

>

> >

>

> >or even when I put them in her ear, they whistle. Her audiologist said

>this

>

> >

>

> >was normal and one of her ear molds may need to be redone. We just did

>one

>

> >

>

> >a couple weeks ago as my dog chewed it to pieces. We do not know the

>cause

>

> >

>

> >of her loss. We are participating in genetic testing at Galludet(sorry if

>I

>

> >

>

> >spelled it incorrectly). We should hear something by the end of the year.

>

> >

>

> >We don't have any hearing loss in the family, but one of the questions

>they

>

> >

>

> >asked was if anyone in the family had hair that grayed early. My husband

>

> >

>

> >did as well as my sister. I know there is a syndrome associated with a

>

> >

>

> >white patch in the hair, but I don't know if it is the same.

>

> >

>

> >

>

> >

>

> >

>

> >

>

> >---------------------------------

>

> >

>

> >How low will we go? Check out Yahoo! Messenger’s low PC-to-Phone call

>

> >rates.

>

> >

>

> >

>

> >

>

> >

[Guest guest]

As in graying early what age?...because with Waardenburg it is by the age of

12....a full head of grey or the white forelock beginning at 8...

-- RE: Hello =

Premature graying is a possible sign of WS. There is a genetic test

available if you want to either rule it out or confirm it, but other than

the possibility of progressive hearing loss--which can be treated

symptomatically--there are no other health implications to it.

We went for years of having doctors insist that our son had WS based purely

on family history, while we were just as insistent that he didn't have it

because his features were radically different from the family history. We

finally had the blood test done mainly to prove to doctors that he does not

have WS, so that they would more seriously consider other possibilities. (We

still have no answers or reasons, but since his hearing is not getting worse

and he seems to be doing well in other areas, we've stopped asking " why. " )

Carroll wendymattinglycarroll@...> wrote:

My daughter shows none of these signs, other than hearing loss. We just

have history of graying early. Do you think that means we can rule out

Waardenburg Syndrome?

---------------------------------

How low will we go? Check out Yahoo! Messenger’s low PC-to-Phone call rates.

[Guest guest]

You probably need to talk to a geneticist...

~Cathy~ wrote:

> Nope I wouldn't yet... because it could just be 1 of the characteristics of

> it...being shown up the hearing loss.....does she have wide spread eyes.

> almost looking Chinese? you can have 1 or all 6 of the characteristics and

> still have it..

>

>

>

> ~Cathy~

>

>

>

> -- RE: Hello =

>>

>

>

>

>

>

>

>

>

>> Waardenburg Syndrome typically includes a white streak of hair early in

>>

>

>

>> life

>>

>

>

>> (sometimes in toddlers, even), usually around the temple, and/or the person

>>

>

>

>> s hair goes gray earlier than normal. Other features of WS include

>>

>

>

>> differently-colored eyes (one brown, one blue, for example), wide-set eyes,

>>

>

>

>> and hearing loss--often at birth. If the hearing loss appears later, it is

>>

>

>

>> progressive, and typically starts around puberty.

>>

>

>

>

>

>

>

>

>

>> Most people with WS have one or two of the features. It runs in my

>>

>

>

>> husband's

>>

>

>

>> family, and pretty much everyone who had it had a white streak of hair and

>>

>

>

>> hearing loss starting around puberty, including my mother-in-law and her

>>

>

>

>> father. If there was no white streak, there was no hearing loss. My husband

>>

>

>

>> has a *patch* of white hair that he's had since he was an infant, so

>>

>

>

>> there's

>>

>

>

>> a chance he has it, although his hearing is good well into his 40s now. We

>>

>

>

>> did have our son tested for it, but the results were negative--despite his

>>

>

>

>> first ENT's claim that if WS is in the family, then it MUST be the reason

>>

>

>

>> for our son's hearing loss. Our son has none of the other features of WS at

>>

>

>

>> all, and unlike the family pattern, he was apparently born hearing

>>

>

>

>> impaired,

>>

>

>

>> and his hearing has actually *improved* since he was first diagnosed at the

>>

>

>

>> age of four months.

>>

>

>

>

>

>

>

>

>

>> The whistling is most likely poorly-fitting ear molds. When our son has

>>

>

>

>> gone

>>

>

>

>> through growth spurts, he's had to get new molds at least every 3-4 months.

>>

>

>

>> He's 12 now, and generally goes a year or so between molds, but the

>>

>

>

>> whistling is the biggest tip that he's outgrown the current pair.

>>

>

>

>

>

>

>

>

>

>> Kiminy

>>

>

>

>

>

>

>

>

>

>> Carroll wendymattinglycarroll@...> wrote:

>>

>

>

>

>

>> She did not need

>>

>

>

>

>

>> new hearing aids. They just turned them up significantly. The one thing I

>>

>

>

>

>

>> have noticed is they whistle a lot more than they did. If she is lying down

>>

>

>

>

>

>> or even when I put them in her ear, they whistle. Her audiologist said this

>>

>

>

>

>

>> was normal and one of her ear molds may need to be redone. We just did one

>>

>

>

>

>

>> a couple weeks ago as my dog chewed it to pieces. We do not know the cause

>>

>

>

>

>

>> of her loss. We are participating in genetic testing at Galludet(sorry if I

>>

>

>

>

>

>> spelled it incorrectly). We should hear something by the end of the year.

>>

>

>

>

>

>> We don't have any hearing loss in the family, but one of the questions they

>>

>

>

>

>

>> asked was if anyone in the family had hair that grayed early. My husband

>>

>

>

>

>

>> did as well as my sister. I know there is a syndrome associated with a

>>

>

>

>

>

>> white patch in the hair, but I don't know if it is the same.

>>

>

>

>

>

>

>

>

>

>

>

>

>

>> ---------------------------------

>>

>

>

>

>

>> How low will we go? Check out Yahoo! Messenger’s low PC-to-Phone call

>>

>

>

>> rates.

>>

>

>

>

>

>

>

>

>

>>

[Guest guest]

My husband started to gray after high school and my sister probably in her

early twenties. My husband's grandmother also grayed around this age as

well. My husband is not completely gray though and my sister dyes her hair

so I don't really know how gray she would be.

>

>Reply-To: Listen-Up

>To: Listen-Up >

>Subject: RE: Hello =

>Date: Wed, 27 Sep 2006 08:56:30 -0500 (Central Standard Time)

>

>As in graying early what age?...because with Waardenburg it is by the age

>of

>12....a full head of grey or the white forelock beginning at 8...

>

>

>

>-- RE: Hello =

>

>

>

>Premature graying is a possible sign of WS. There is a genetic test

>available if you want to either rule it out or confirm it, but other than

>the possibility of progressive hearing loss--which can be treated

>symptomatically--there are no other health implications to it.

>

>

>

>We went for years of having doctors insist that our son had WS based purely

>on family history, while we were just as insistent that he didn't have it

>because his features were radically different from the family history. We

>finally had the blood test done mainly to prove to doctors that he does not

>have WS, so that they would more seriously consider other possibilities.

>(We

>still have no answers or reasons, but since his hearing is not getting

>worse

> and he seems to be doing well in other areas, we've stopped asking

> " why. " )

>

>

>

> Carroll wendymattinglycarroll@...> wrote:

>

>My daughter shows none of these signs, other than hearing loss. We just

>

>have history of graying early. Do you think that means we can rule out

>

>Waardenburg Syndrome?

>

>

>

>---------------------------------

>

>How low will we go? Check out Yahoo! Messenger’s low PC-to-Phone call

>rates.

>

>

>

>

[Guest guest]

In a message dated 9/27/2006 3:40:45 P.M. Eastern Standard Time,

kiminyme@... writes:

By the time he's interested in having kids (if he ever does), we'll take

another look at testing, if only so we know if he might pass the problems onto

his kids. We hope that genetic testing will be more precise and less expensive

in another ten years, too.

Kiminy

We have the same opinion. Ian's diagnosis of Goldenhar doesn't explain (for

me) the progressive hearing loss. Everything else fits, but not that. So to be

painfully honest, I'd like to have the syndrome be the explanation, but it

doesn't work. Everything else caused by the Goldenhar has been constant, the

syndrome doesn't explain the deterioration. I consider his hearing loss to be

idiopathic at this point. In regards to his hearing, we have three different

diagnosis with two scenarios. Neither has an immediate resolution and

Goldenhar isn't a genetic syndrome.

So, we figure that when Ian is ready to consider kids, or just older and

wants to know for himself, we'll go back and see if there are more test

available and some more definitive answers. Science is advancing by leaps in

this

area, so I expect it'll be better able to answer us in another ten years as

well.

But I really do discourage other parents from trying to diagnose syndromes

themselves. No matter how well the markers seems to fit, it doesn't mean they

are valid. I can't tell you how many markers Ian ha and how many flags there

are in our family (including premature grey/white hair). I really did make

myself nuts trying to determine if is was BOR or a few other syndromes that the

ENTs were running tests run tests to rule in/out. They never suggested seeing

a geneticist and I was too stunned and new to all this to ask. I just did

what I always do, tried to educate myself. In this case, it was not a good

thing to do. I wish someone had told me to walk away from the computer call a

geneticist instead of reading medical web sites.

Best -- Jill

[Guest guest]

In a message dated 9/27/2006 3:40:45 P.M. Eastern Standard Time,

kiminyme@... writes:

By the time he's interested in having kids (if he ever does), we'll take

another look at testing, if only so we know if he might pass the problems onto

his kids. We hope that genetic testing will be more precise and less expensive

in another ten years, too.

Kiminy

We have the same opinion. Ian's diagnosis of Goldenhar doesn't explain (for

me) the progressive hearing loss. Everything else fits, but not that. So to be

painfully honest, I'd like to have the syndrome be the explanation, but it

doesn't work. Everything else caused by the Goldenhar has been constant, the

syndrome doesn't explain the deterioration. I consider his hearing loss to be

idiopathic at this point. In regards to his hearing, we have three different

diagnosis with two scenarios. Neither has an immediate resolution and

Goldenhar isn't a genetic syndrome.

So, we figure that when Ian is ready to consider kids, or just older and

wants to know for himself, we'll go back and see if there are more test

available and some more definitive answers. Science is advancing by leaps in

this

area, so I expect it'll be better able to answer us in another ten years as

well.

But I really do discourage other parents from trying to diagnose syndromes

themselves. No matter how well the markers seems to fit, it doesn't mean they

are valid. I can't tell you how many markers Ian ha and how many flags there

are in our family (including premature grey/white hair). I really did make

myself nuts trying to determine if is was BOR or a few other syndromes that the

ENTs were running tests run tests to rule in/out. They never suggested seeing

a geneticist and I was too stunned and new to all this to ask. I just did

what I always do, tried to educate myself. In this case, it was not a good

thing to do. I wish someone had told me to walk away from the computer call a

geneticist instead of reading medical web sites.

Best -- Jill

[Guest guest]

In a message dated 9/27/2006 3:40:45 P.M. Eastern Standard Time,

kiminyme@... writes:

By the time he's interested in having kids (if he ever does), we'll take

another look at testing, if only so we know if he might pass the problems onto

his kids. We hope that genetic testing will be more precise and less expensive

in another ten years, too.

Kiminy

We have the same opinion. Ian's diagnosis of Goldenhar doesn't explain (for

me) the progressive hearing loss. Everything else fits, but not that. So to be

painfully honest, I'd like to have the syndrome be the explanation, but it

doesn't work. Everything else caused by the Goldenhar has been constant, the

syndrome doesn't explain the deterioration. I consider his hearing loss to be

idiopathic at this point. In regards to his hearing, we have three different

diagnosis with two scenarios. Neither has an immediate resolution and

Goldenhar isn't a genetic syndrome.

So, we figure that when Ian is ready to consider kids, or just older and

wants to know for himself, we'll go back and see if there are more test

available and some more definitive answers. Science is advancing by leaps in

this

area, so I expect it'll be better able to answer us in another ten years as

well.

But I really do discourage other parents from trying to diagnose syndromes

themselves. No matter how well the markers seems to fit, it doesn't mean they

are valid. I can't tell you how many markers Ian ha and how many flags there

are in our family (including premature grey/white hair). I really did make

myself nuts trying to determine if is was BOR or a few other syndromes that the

ENTs were running tests run tests to rule in/out. They never suggested seeing

a geneticist and I was too stunned and new to all this to ask. I just did

what I always do, tried to educate myself. In this case, it was not a good

thing to do. I wish someone had told me to walk away from the computer call a

geneticist instead of reading medical web sites.

Best -- Jill

[Guest guest]

We've taken our son to see three different geneticists--while they all agree

that he has *something* because his facial features are irregular (more like a

slightly blurry " irregular " than a really noticeable " irregular " ), and he has

one or two markers for five or six different things, none of them could give us

any indication of what he actually has. We did do a few tests for some things

that typically cause hearing loss, but they all came back negative.

Since our son is showing improvement in all areas, and he has not shown any

health problems or regression at all, we've pretty much put further research on

hold. By the time he's interested in having kids (if he ever does), we'll take

another look at testing, if only so we know if he might pass the problems onto

his kids. We hope that genetic testing will be more precise and less expensive

in another ten years, too.

Kiminy

JillcWood@... wrote:

In my experience, a geneticist is the one to make the call about which

syndrome things point to. I drove myself to distraction trying to diagnose Ian

via

the internet. because doctors (not geneticists) suspected different

syndromes. The best thing I did for ME was to take him to the geneticist and

have him

figure it out. And it turned out for some of Ian " markers " that sometime a

cigar is just a cigar.

---------------------------------

Yahoo! Messenger with Voice. Make PC-to-Phone Calls to the US (and 30+

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[Guest guest]

Colleen,

le's experience with ABR is also similar to 's. We have had it

done once and she would not fall asleep. Finally, we just decided to give

up, turned on all the lights and out she went. Unfortunately, she also woke

up about 15 minutes in, so we were not able to get all of the results. What

we did get coincided with the behavioral hearing tests. I had considered

having her sedated with anesthesia and have the test repeated, but have been

advised against it by her audiologist and her pediatrician. They feel that

it is too risky and not necessary enough with the info we already have. I

feel fairly certain now that she is testing reasonably well to what she

really hears as the last time they turned up her hearing aids, she seemed to

respond really well. She is progressing in speech, which is what our goal

is for her. It is interesting though that she responds very well to speech

if you tap her and have her look at you first. Maybe she is already

starting to read lips, or it helps her focus if she sees our face?

is also very trying at times and will go off in a screaming fit over

what seems to be nothing. I have really tried to be patient with her and to

remind her to " use her words " . Her first reaction is always to fall to the

ground and have a fit. It is a daily battle and I have to constantly remind

myself that I have no idea what or how she is hearing. I am sure it is very

frustrating for her and I give it my all to be as patient as possible.

I agree this website is great and I wish I had joined sooner. It is nice to

have support from people who know what you are going through and who have

answers to lots of questions. Thanks for your reply.

>

>Reply-To: Listen-Up

>To: Listen-Up >

>Subject: RE: RE: Hello =

>Date: Tue, 26 Sep 2006 23:12:25 -0400

>

>Yes le can read lips. I can’t say for sure when it started. In

>her toddler days if you were holding her and talking she would always

>pull your chin

>so she could look at you talking. She has other issues besides hearing

>loss and has no useful vision in her left eye, but is very visual. She

>always looks at

>people when they are talking to her.

>le sounds a lot like your daughter was when testing at the younger

>years. She was a bear and very difficult, but through conditioning her

>of what was

>expected and explaining over and over again, what was to be expected she

>finally got it around 3 ½ years old. We played many games and turned

>them into listening games and always followed it up with a reward of

>some sort . Even as an infant with the ABR testing, she was sedated and

>woke up every time.

>le was identified at birth and we battle with testing for over 3

>years getting her to cooperate before we were certain what her loss was.

>She is very strong willed even to this day, and sometimes that works for

>us but a lot of times it works against us. She has a strong desire to

>learn and reads all the time. We are so proud of her, even though she

>is very trying at times.

>Hope this helps, I totally understand how frustrating it can be to go

>for testing and hope to have answers, to have not much more than you

>walked in with. I think this was one of the most difficult things for

>me to deal with through this journey.

>This list has been a wonderful source of information, support, praise

>and hope for me. I don’t post much but I read every email that comes

>through in hopes of learning more everyday. I don’t know what I would

>of done without a place like this to fall too. Feel free to ask any

>questions, even if you feel they are dumb. Everyone has gone through

>exactly what you are going through right now and understand. It was

>always a safe place for me to fall, because we are all dealing with the

>same thing and understand just what you are feeling.

>Take Care,

>Colleen .

>

> Hello

> >

> >Hi,

> >My name is Carroll. I have a three year old daughter named

> >who

> >is hard of hearing. She was originally testing in the mild to moderate

> >range last year. She is now testing in the moderately severe to severe

> >range. She has a cookie-bite type of hearing loss, so she can hear the

> >higher and lower frequencies better than the mid-frequencies. I would

> >love

> >to hear from anyone who has a child with this type of hearing loss. She

> >is

> >very hard to test, so I it makes me wonder if her hearing is really as

> >bad

> >as she is testing. She wears hearing aids and does great with them. But

> >she can also hear us without them if we are loud enough, which also

> >makes me

> >wonder if her hearing is as bad as she is testing. Does anyone have any

> >experiences like this? She detects speech at 55 decibels, she tested

> >around

> >60 decibels in the high and low frequencies and in the 70-80 range in

> >the

> >mid-frequencies.

> >

> >Thanks for any help you can give me.

> >

> >

> >

> >__________________________________________________________

> >Try the new Live Search today!

> >http://imagine-

> >http://imagine-

>http://imagine-windowslive.com/minisites/searchlaunch/?locale=en-us&FOR

> > windowslive.com/minisites/searchlaunch/?locale=en-us&FOR

> >M=WLMTAG>

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> >

> >

> >

> >

[Guest guest]

Kiminy,

We have a somewhat parallel experience, except it was ENTs who were

suggesting and then ruling out the syndromes. We also had one or two " gods " who

turned out to be terribly uninformed or just looking for their next paper topic,

including a well respected pediatric neurologist who supposedly walked on

water.

I definitely agree that my research made me more capable of discerning which

professional knew his/her stuff, and I now know more about several topics

than some of the doctors we've encountered. But it wasn't enough for me to find

the answers on my own. (We still don't have all the answers and may never

have them.) For Ian, there is a collection of small " issues " that run from the

top of his head down to his feet. And every one of them is a marker for

something. Add in the family history and a couple syndromes that run in the

extended family and we had quite a full basket to choose from and combine. We

weren't dealing with one or two possibilities, at this point I don't even

remember how many I was looking up.

My urge for caution comes from watching parents (on other lists) try and

define their own kids' syndrome based on the anecdotal information traded

between parents. You and I both eventually found geneticists who were good, who

talked with us and worked with us. My caution is against us parents trying to

do

this on their own without that help.

In retrospect, I wish one of Ian's doctors had used the word geneticist in a

sentence, none did although they certainly tested for enough syndromes. I

didn't come to a geneticist on my own until after we'd been through the ringer.

And also using hindsight, I know that going through that ringer made it

easier for the geneticist to do his job, since there were tons of test results

and scans for him to review, so he didn't need to order any more. When I handed

him the folder, as he flipped through it, he commented that he'd never

before encountered such a complete file.

I'll never argue against educating ourselves and am an advocate for second

(third, fourth ...) opinions because doctors are indeed human. But from my

experience, I needed those good doctors to get to the few answers we have

found.

Best -- Jill

[Guest guest]

Yes, that's exactly how I feel Jill. I think it's so smart to do

research and be informed. But I think we need to be cautious in asking

this type of advice from other parents who may not be experts. That

makes good sense to me.

Barbara

Jill wrote---

I'll never argue against educating ourselves and am an advocate for second

(third, fourth ...) opinions because doctors are indeed human. But from my

experience, I needed those good doctors to get to the few answers we have

found.