Re: Vestibular aqueducts - Sherry

[Guest guest]

> There are two syndromes that present with LVA and (but not always)

> Mondini's. One is Pendred, and the other is BOR-branchio-oto-renal

syndrome

> (is that correct?) Both have DNA tests available now, but I believe the

BOR

> one can sometimes show false negatives. Pendred can also be determined

> doing a thyroid scan called a Perchlorate washout-difficult to find anyone

> doing these anymore.

Hi Sherry. I never did update you on our testing. JD's genetic testing came

back negative for Pendred's. But they're not done yet. There was some

misunderstanding on his/our part as none of JD's medical records actually

say Mondini's so he wanted to check into that before ordering more testing

(but I checked with JD's surgeon the other day and he said that with JD's

1/4 less turn of the cochlea combined with the LVA, it's definitely a

mondini dysplasia). Anyway, they've ordered a kidney ultrasound on JD. When

he confirms for himself that it is mondini's, they want to do the

perchlorate washout test (even though he admits he's never seen one done and

they've never done one here - but they have the capability of doing it here)

and then test both of us for BOR, especially since I have a very mild

conductive hearing loss as well. They may also do some testing for

Waardenburg Syndrome because my gray hair is more pronounced in my forelock

than anywhere else.

Never a dull moment around here!

Hugs,

Kay

[Guest guest]

Hi Kay,

I was wondering what was up with that. It seems 's cochlea may only

have 1 and 1/2 turns! We may need to do another CT scan to be sure. The

research doc I have been working with will be writing letters to the CI

center in Seattle to attempt to get them to implant now, due mainly to

his LVA and the progressive loss. Did I mention is now Profound? No

more severe left.

Keep me posted on the BOR and Waardenburg's testing. The Perchlorate

testing is interesting, it is a scan, and the results can be misinterpreted,

which I think is why many places aren't doing them anymore. For Pendred's

they have to show a washout of over 20 percent. hit 50 percent at one

point, like 2 hours after the perchlorate was given.

Amazing how long it takes to find out things.

See ya

Sherry

> Re: Vestibular aqueducts - Sherry

>

>

> > There are two syndromes that present with LVA and (but not always)

> > Mondini's. One is Pendred, and the other is BOR-branchio-oto-renal

> syndrome

> > (is that correct?) Both have DNA tests available now, but I believe the

> BOR

> > one can sometimes show false negatives. Pendred can also be determined

> > doing a thyroid scan called a Perchlorate washout-difficult to

> find anyone

> > doing these anymore.

>

> Hi Sherry. I never did update you on our testing. JD's genetic

> testing came

> back negative for Pendred's. But they're not done yet. There was some

> misunderstanding on his/our part as none of JD's medical records actually

> say Mondini's so he wanted to check into that before ordering more testing

> (but I checked with JD's surgeon the other day and he said that with JD's

> 1/4 less turn of the cochlea combined with the LVA, it's definitely a

> mondini dysplasia). Anyway, they've ordered a kidney ultrasound

> on JD. When

> he confirms for himself that it is mondini's, they want to do the

> perchlorate washout test (even though he admits he's never seen

> one done and

> they've never done one here - but they have the capability of

> doing it here)

> and then test both of us for BOR, especially since I have a very mild

> conductive hearing loss as well. They may also do some testing for

> Waardenburg Syndrome because my gray hair is more pronounced in

> my forelock

> than anywhere else.

>

> Never a dull moment around here!

>

> Hugs,

> Kay

>

>

>

> 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]

For what it's worth, BOR is *highly* variable -- you can have two people both

test genetically positive for BOR and have completely different sets of

symptoms and problems.

My nine-year-old daughter Patty (who we strongly suspect has BOR) has a

progressive loss but has had two CAT scans with no sign of LVA or Mondini's.

So at least in our case, a clean CAT scan w/ no Mondini's or LVA is not a

guarantee of escaping the progressive form of the hearing loss with BOR.

Also Kay, you mentioned having JD have a kidney ultrasound. Lots of

BOR-associated kidney abnormalities (the medical books list *40*!!) are

cellular, only the structural problems show up on ultrasound. You might want

to ask them to also run a kidney panel and a creatine / protein ratio just to

be on the safe side. Patty has both structural and cellular kidney problems

-- this kid doesn't take the easy route for anything :-).

Sheri

[Guest guest]

---

Sherry-

I have a question for you. Sorry I haven't even introduced myself. My

name is and I have a 4 yr old daughter, Delaney who was

diagnosed (FINALLY) with hearing loss last November. She had an MRI

in March which showed LVA as the cause of the hearing loss. We also

have a 7 month old who has confirmed moderate loss in her left ear,

and it looks as though she may have loss in the right ear now as

well. We suspect LVA here as well, but will not do an MRI until

December. Delaney does not have Mondini's though.

Should we push to do genetic testing? I haven't read anything about

Pndred or BOR in association with LVA. We obviously want to know

everything possible about LVA and anything associated with it. It's

been really difficult to find much about LVA. I do know my older

daughter's hearing has progressed- She started (when she was

" officially " diagnosed) at moderate (45-50 db at low freq) to severe

(80-90 at high frequencies), and has shifted 5-10 db across the

board. We go in tomorrow for additional testing (they have us coming

back monthly to track her hearing.

Anyway- sorry so long, and I hope this was clear- Any info you have

would be greatly appreciated!!!!

In Listen-Upegroups, " Listen-Up! " <listenup@t...> wrote:

> > There are two syndromes that present with LVA and (but not always)

> > Mondini's. One is Pendred, and the other is BOR-branchio-oto-

renal

> syndrome

> > (is that correct?) Both have DNA tests available now, but I

believe the

> BOR

> > one can sometimes show false negatives. Pendred can also be

determined

> > doing a thyroid scan called a Perchlorate washout-difficult to

find anyone

> > doing these anymore.

>

> Hi Sherry. I never did update you on our testing. JD's genetic

testing came

> back negative for Pendred's. But they're not done yet. There was

some

> misunderstanding on his/our part as none of JD's medical records

actually

> say Mondini's so he wanted to check into that before ordering more

testing

> (but I checked with JD's surgeon the other day and he said that

with JD's

> 1/4 less turn of the cochlea combined with the LVA, it's definitely

a

> mondini dysplasia). Anyway, they've ordered a kidney ultrasound on

JD. When

> he confirms for himself that it is mondini's, they want to do the

> perchlorate washout test (even though he admits he's never seen one

done and

> they've never done one here - but they have the capability of doing

it here)

> and then test both of us for BOR, especially since I have a very

mild

> conductive hearing loss as well. They may also do some testing for

> Waardenburg Syndrome because my gray hair is more pronounced in my

forelock

> than anywhere else.

>

> Never a dull moment around here!

>

> Hugs,

> Kay

[Guest guest]

> I haven't read anything about

> Pndred or BOR in association with LVA. We obviously want to know

> everything possible about LVA and anything associated with it. It's

> been really difficult to find much about LVA.

You'll find links to some pages about Pendred's, BOR, and LVAS here:

http://www.listen-up.org/med2.htm

Kay

[Guest guest]

Hi ,

>

> Should we push to do genetic testing? I haven't read anything about

> Pndred or BOR in association with LVA. We obviously want to know

> everything possible about LVA and anything associated with it. It's

> been really difficult to find much about LVA. I do know my older

> daughter's hearing has progressed- She started (when she was

> " officially " diagnosed) at moderate (45-50 db at low freq) to severe

> (80-90 at high frequencies), and has shifted 5-10 db across the

> board. We go in tomorrow for additional testing (they have us coming

> back monthly to track her hearing.

The genetic testing won't really change the outcome or course of treatment,

but it would let you know that the kids' losses are due to genetics. There

isn't much information on LVA, and research is continuing into it. Majority

of people do have progressive losses. BOR does have some other symptoms

associated with it, which may need looking in to.

Info on BOR

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_ui

ds=10762556 & dopt=Abstract

http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?113650

http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?125100

Pendred Syndrome

http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?274600

Talk to your ENT about possible genetic testing and the different syndromes

that cause hearing loss.

Sherry