genetic counseling scheduled

[Guest guest]

So our appt with the genetisist is scheduled for next week.

What I was told:

They will test for Connexin 26 (?) because that is the biggest cause

of HL

They will test for Ushers because of our heritage although unlikely to

be it.

It those are negative and we decide to test for other things then it

has to be sent off to a different facility.

Results will take 2-3 weeks

Is that right? is that ALL they test for? Seems like balonie to me -

doe either of these things cause other deformaties - other things I

should be worried about?

[Guest guest]

There are several types of Usher syndromes. Although Ushers is

usually broken down into 3 categories, within those categories there

are sub categories. Currently, there is a test for ONE type of Ushers.

In addition to CX 26, there is also CX 30, which is typically included

as part of the work-up. , I found the Harvard Study site, very

helpful. Check out: http://hearing.harvard.edu

Best,

[Guest guest]

In a message dated 6/1/2006 12:52:10 A.M. Eastern Daylight Time,

saraandchadd@... writes:

Is that right? is that ALL they test for? Seems like balonie to me -

doe either of these things cause other deformaties - other things I

should be worried about?

The geneticist will let you know what other testing may be needed. There are

tons of syndromes that have hearing loss as a factor. The decision for

additional testing will be based on what other markers may be present. Those

markers will point the geneticist to request additional testing.

If he arranged for any potentially necessary testing ahead of time, you'd

spend weeks in the hospital getting everything on your child scanned, scoped

and measured. There's no need for all that.

The ushers and CX testing are pretty standard for any D/HOH kid. The rest is

based on what marker may or may not be present.

Good luck!

Jill

[Guest guest]

If Connexin 26 is it, I think that is Pendreds, and there would be a

possible goiter in the future like late teens to early 20's . . . with

Usher's there would be accompanying sight loss. I think Usher's is pretty

rare.

Best lf luck with all this. We face this soon in Chapel Hill ourselves.

Blessings,

Robin T. in NC

>

> So our appt with the genetisist is scheduled for next week.

>

> What I was told:

> They will test for Connexin 26 (?) because that is the biggest cause

> of HL

> They will test for Ushers because of our heritage although unlikely to

> be it.

> It those are negative and we decide to test for other things then it

> has to be sent off to a different facility.

> Results will take 2-3 weeks

>

> Is that right? is that ALL they test for? Seems like balonie to me -

> doe either of these things cause other deformaties - other things I

> should be worried about?

>

>

>

>

>

>

>

>

> All messages posted to this list are private and confidential. Each post

> is the intellectual property of the author and therefore subject to

> copyright restrictions.

>

>

>

>

[Guest guest]

Connexin 26 and Pendreds are two different issues. Connexin 26 has only

hearing loss as its component; not sure about Pendreds.

Stefanie

Mom to Ben, 7, severe/profound HOH, connexin 26, and Isabella, 10, mild loss

on 6/1/06 8:28 AM, Robin Tomlinson at thetomlinsons@... wrote:

> If Connexin 26 is it, I think that is Pendreds, and there would be a

> possible goiter in the future like late teens to early 20's . . . with

> Usher's there would be accompanying sight loss. I think Usher's is pretty

> rare.

>

> Best lf luck with all this. We face this soon in Chapel Hill ourselves.

>

> Blessings,

> Robin T. in NC

[Guest guest]

Hi Sara - that's correct. When we first submitted our blood for

testing, they tested for Connexin first because it is the most common

cause of non-syndromic, hereditary hearing loss. Ours wasn't Connexin

so now they're baffled! We know it's some sort of x-linked recessive

hearing loss but thus far, the gene hasn't been identified. They didn't

test us for Ushers because our heritage is

Appalachian/Scots/Irish/German. So yes, that sounds correct.

Ushers actually isn't all that rare in the population in general (5% of

deaf kids have Ushers) and the Acadian population of Louisiana in

particular. I worked at LSU Eye Center in New Orleans - one of our big

studies was on retinitis pigmentosa (which is the sight problem

associated with Ushers).

Connexin is not like Pendreds in that it usually has no other symptoms

than hearing loss whereas Pendreds often does involve hormonal issues

(like the goiter later on). Connexin is actually responsible for 50% of

nonsyndromic hearing loss which is why they test for it first. I read

that 8-10% of inherited hearing loss is caused by Pendreds so Connexin

is the most prevalent cause.

Barbara

Robin Tomlinson wrote:

> If Connexin 26 is it, I think that is Pendreds, and there would be a

> possible goiter in the future like late teens to early 20's . . . with

> Usher's there would be accompanying sight loss. I think Usher's is pretty

> rare.

>

> Best lf luck with all this. We face this soon in Chapel Hill ourselves.

>

> Blessings,

> Robin T. in NC

>

>

>

>

>

>

>

>> So our appt with the genetisist is scheduled for next week.

>>

>> What I was told:

>> They will test for Connexin 26 (?) because that is the biggest cause

>> of HL

>> They will test for Ushers because of our heritage although unlikely to

>> be it.

>> It those are negative and we decide to test for other things then it

>> has to be sent off to a different facility.

>> Results will take 2-3 weeks

>>

>> Is that right? is that ALL they test for? Seems like balonie to me -

>> doe either of these things cause other deformaties - other things I

>> should be worried about?

>>

>>

>>

>>

>>

>>

>>

>>

>> All messages posted to this list are private and confidential. Each post

>> is the intellectual property of the author and therefore subject to

>> copyright restrictions.

>>

>>

>>

>>

[Guest guest]

Barbara - we are going to Tulane for the genetic testing. LSU couldnt' get us

in until the fall. Have you heard anything about them? Then in three weeks we

are going to LA Speech and Hearing for a second opinion ABR - trying to avoid

the sedation at Childrens. Any experience with them? They seemed especially

nice on the phone - the only thing that makes me a little uncomfortable is that

the audi " went to school " with my audi - meaning they are both very young (at

least my audi looks 25 at the oldest) - just makes me a little nervous although

I don't doubt their abilities.

Barbara Mellert Barbara.T.Mellert@...> wrote: Hi Sara - that's

correct. When we first submitted our blood for

testing, they tested for Connexin first because it is the most common

cause of non-syndromic, hereditary hearing loss. Ours wasn't Connexin

so now they're baffled! We know it's some sort of x-linked recessive

hearing loss but thus far, the gene hasn't been identified. They didn't

test us for Ushers because our heritage is

Appalachian/Scots/Irish/German. So yes, that sounds correct.

Ushers actually isn't all that rare in the population in general (5% of

deaf kids have Ushers) and the Acadian population of Louisiana in

particular. I worked at LSU Eye Center in New Orleans - one of our big

studies was on retinitis pigmentosa (which is the sight problem

associated with Ushers).

Connexin is not like Pendreds in that it usually has no other symptoms

than hearing loss whereas Pendreds often does involve hormonal issues

(like the goiter later on). Connexin is actually responsible for 50% of

nonsyndromic hearing loss which is why they test for it first. I read

that 8-10% of inherited hearing loss is caused by Pendreds so Connexin

is the most prevalent cause.

Barbara

Robin Tomlinson wrote:

> If Connexin 26 is it, I think that is Pendreds, and there would be a

> possible goiter in the future like late teens to early 20's . . . with

> Usher's there would be accompanying sight loss. I think Usher's is pretty

> rare.

>

> Best lf luck with all this. We face this soon in Chapel Hill ourselves.

>

> Blessings,

> Robin T. in NC

>

>

>

>

>

>

>

>> So our appt with the genetisist is scheduled for next week.

>>

>> What I was told:

>> They will test for Connexin 26 (?) because that is the biggest cause

>> of HL

>> They will test for Ushers because of our heritage although unlikely to

>> be it.

>> It those are negative and we decide to test for other things then it

>> has to be sent off to a different facility.

>> Results will take 2-3 weeks

>>

>> Is that right? is that ALL they test for? Seems like balonie to me -

>> doe either of these things cause other deformaties - other things I

>> should be worried about?

>>

>>

>>

>>

>>

>>

>>

>>

>> All messages posted to this list are private and confidential. Each post

>> is the intellectual property of the author and therefore subject to

>> copyright restrictions.

>>

>>

>>

>>

[Guest guest]

Sara, I think you may be getting mixed up between things that are present

" congenitally " and things that are genetic. Congenital means they are present

at birth - like malrotation or hearing loss. Genetic means the problem was

caused by a gene that led to " faulty " fetal development. Non genetic problems

are caused by other things (often unknown) that interfere with fetal

development. Congenital problems can be genetic or non-genetic. The genetic

work up will tell you if it is a connexin (26 or 30) and the medical work up

will primarily tell you if there are other co-existing problems. There is some

overlap as well. Some of the genetic work up will tell you things that co=exist

or might occur in the future like Ushers. Some of the medical work up may point

to a genetic cause. Genetic work up is more for causation, medical work up is

for " what else " - there is overlap which is why you often need both. With only

one child with HL, the medical work up was done for us, no genetics. Of course

this was 10 years ago and they couldn't test for Connexin then. My audie

suggested a year ago that we do Connexin testing now that it was commercially

available and I told her we had already done it through a study. HOpe this

clears up the muddy waters! (My pun for the day!)

Re: genetic counseling scheduled

>

>

>In a message dated 6/1/2006 12:52:10 A.M. Eastern Daylight Time,

>saraandchadd@... writes:

>

>Is that right? is that ALL they test for? Seems like balonie to me -

>doe either of these things cause other deformaties - other things I

>should be worried about?

>

>

>

>

>The geneticist will let you know what other testing may be needed. There are

>tons of syndromes that have hearing loss as a factor. The decision for

>additional testing will be based on what other markers may be present. Those

>markers will point the geneticist to request additional testing.

>

>If he arranged for any potentially necessary testing ahead of time, you'd

>spend weeks in the hospital getting everything on your child scanned, scoped

>and measured. There's no need for all that.

>

>The ushers and CX testing are pretty standard for any D/HOH kid. The rest is

>based on what marker may or may not be present.

>

>Good luck!

>Jill

>

>

>

[Guest guest]

Sara,

Are you seeing Bronya at LSU? I know she studies HL specifically

within your heritage. Oh sorry, Bronya Keats, she is the genetecist

there at LSU but I was not sure if she was back in town yet.

Elaine

[Guest guest]

>

> Sara,

> Are you seeing Bronya at LSU? >>>

Never mind, I saw your later reply you are going to Tulane.

You may want to ask about using Melatonin to help the child sleep for

the ABR. It is not sedation and typically a safe supplement. We use

it for my kids now and again to help them fall asleep but it is not

a " drug " . I read an article about using it for ABR's recently.

My Jake had adverse reactions to the Chloral Hydrate they used back

then and had to have anesthesia to have his final ABR to get the true

diagnosis of auditory neuropathy.

Also, here in NC they screen all deaf and HOH kids for ushers when they

are 12 years old just in case it is starting to get the cision loss

then. They checked Jake this year cause he wears glasses and his

vision loss doubled in less than a year, but he does not have it.

Elaine

[Guest guest]

Here are two sites that might be helpful:

http://hearing.harvard.edu

http://www.cdc.gov/ncbddd/ehdi/parentbook/default.htm

Best of luck, Martha

---- saraandchadd saraandchadd@...> wrote:

> So our appt with the genetisist is scheduled for next week.

>

> What I was told:

> They will test for Connexin 26 (?) because that is the biggest cause

> of HL

> They will test for Ushers because of our heritage although unlikely to

> be it.

> It those are negative and we decide to test for other things then it

> has to be sent off to a different facility.

> Results will take 2-3 weeks

>

> Is that right? is that ALL they test for? Seems like balonie to me -

> doe either of these things cause other deformaties - other things I

> should be worried about?

>

>

>

>

>

>

>

>

>

> All messages posted to this list are private and confidential. Each post is

the intellectual property of the author and therefore subject to copyright

restrictions.

>

[Guest guest]

Hi Sara - Tom was diagnosed with his hearing loss until after we moved

to New Hampshire so I don't have any experience with audiologists or

ENTs in New Orleans at all. I have a good friend who's a pediatrician

at T ulane - if you email me offlist the names, I could ask him...

Barbara

Sara Chaddock wrote:

> Barbara - we are going to Tulane for the genetic testing. LSU couldnt' get us

in until the fall. Have you heard anything about them? Then in three weeks we

are going to LA Speech and Hearing for a second opinion ABR - trying to avoid

the sedation at Childrens. Any experience with them? They seemed especially

nice on the phone - the only thing that makes me a little uncomfortable is that

the audi " went to school " with my audi - meaning they are both very young (at

least my audi looks 25 at the oldest) - just makes me a little nervous although

I don't doubt their abilities.

>

>

[Guest guest]

I'm not exactly sure who at LSU we will be seeing - that won't be until the

fall. I know that LSU will also put them in a study of some sort so I would

assume that we will see a geneticist who deals specifically with HOH. I

actually haven't talked to LSU - my audi has so i can't be more specific.

This round of genetic testing is through Tulane and then an ABR through LA

Speech and Hearing.

I know this must be confusing - I give myself a headache!

If we don't find anything out through the Tulane genetics I will go to LSU for

further testing that they may be aware of. I will definitely have them in the

study.

Either way - I guess we will end up at LSU eventually - but with whom I have

no idea.

elaine_blackford beat4girl@...> wrote:

Sara,

Are you seeing Bronya at LSU? I know she studies HL specifically

within your heritage. Oh sorry, Bronya Keats, she is the genetecist

there at LSU but I was not sure if she was back in town yet.

Elaine

All messages posted to this list are private and confidential. Each post is the

intellectual property of the author and therefore subject to copyright

restrictions.

[Guest guest]

Oops - already replied!!!

Hannah vision has already started to deteriorate 20/30 and 20/40. But that

doesn't tell us much since both DH and I are blind as bats (-5.5 and -6 for me

-3.5 for him)!

They told me that there may be a slight chance for another form of Usher's? I

don't know - I guess I will get more info next week when I meet with him in

person.

elaine_blackford beat4girl@...> wrote:

>

> Sara,

> Are you seeing Bronya at LSU? >>>

Never mind, I saw your later reply you are going to Tulane.

You may want to ask about using Melatonin to help the child sleep for

the ABR. It is not sedation and typically a safe supplement. We use

it for my kids now and again to help them fall asleep but it is not

a " drug " . I read an article about using it for ABR's recently.

My Jake had adverse reactions to the Chloral Hydrate they used back

then and had to have anesthesia to have his final ABR to get the true

diagnosis of auditory neuropathy.

Also, here in NC they screen all deaf and HOH kids for ushers when they

are 12 years old just in case it is starting to get the cision loss

then. They checked Jake this year cause he wears glasses and his

vision loss doubled in less than a year, but he does not have it.

Elaine

All messages posted to this list are private and confidential. Each post is the

intellectual property of the author and therefore subject to copyright

restrictions.

[Guest guest]

A really, really good friend (Sue Berry) is a pediatrician at LSU and is

in charge of the state newborn hearing screening program. She's a

developmental pediatrician so you might run into her. I played for her

wedding! Wonderful person, excellent physician...

Keep us posted, Sara!

Barbara

Sara Chaddock wrote:

> I'm not exactly sure who at LSU we will be seeing - that won't be until the

fall. I know that LSU will also put them in a study of some sort so I would

assume that we will see a geneticist who deals specifically with HOH. I

actually haven't talked to LSU - my audi has so i can't be more specific.

>

> This round of genetic testing is through Tulane and then an ABR through LA

Speech and Hearing.

>

> I know this must be confusing - I give myself a headache!

>

> If we don't find anything out through the Tulane genetics I will go to LSU

for further testing that they may be aware of. I will definitely have them in

the study.

>

> Either way - I guess we will end up at LSU eventually - but with whom I have

no idea.

>

> elaine_blackford beat4girl@...> wrote:

> Sara,

> Are you seeing Bronya at LSU? I know she studies HL specifically

> within your heritage. Oh sorry, Bronya Keats, she is the genetecist

> there at LSU but I was not sure if she was back in town yet.

> Elaine

>

>

>

>

>

> All messages posted to this list are private and confidential. Each post is

the intellectual property of the author and therefore subject to copyright

restrictions.

>

>

>

>

[Guest guest]

>

>

> Either way - I guess we will end up at LSU eventually - but with

whom I have no idea.

>

>

>

It would be Bronya and her associates. She has done several studies on

So. LA hearing loss issues. VERY well respected in the field of

genetics about hearing loss. She is really a sweet lady

Elaine

[Guest guest]

When my boys were first diagnosed with their hearing losses, our then

audiologist suggested we touch base with her. I think she's known

country-wide for her genetics of deafness work...

So funny to think I worked in the same building when I was in NOLA but

didn't know I had a deaf kid!

Barbara

elaine_blackford wrote:

>

>

>

>

>>

>> Either way - I guess we will end up at LSU eventually - but with

>>

> whom I have no idea.

>

>>

>>

> It would be Bronya and her associates. She has done several studies on

> So. LA hearing loss issues. VERY well respected in the field of

> genetics about hearing loss. She is really a sweet lady

>

> Elaine

>

>

>

>

>

>

>

> All messages posted to this list are private and confidential. Each post is

the intellectual property of the author and therefore subject to copyright

restrictions.

>