Re: Re: A Double Edged Sword.....Terri

[Guest guest]

Hi there Terri

What was the process for genetic testing? Was there a reason they did that test

or was it just routine for that doctor? I think I may need a new ENT ARGGG!

~ and 's Mom

Terri Rivkin wrote:

> > Is it common that the ENT and Audiologists are not

> >interested really in cause....they seem to not

> >question " why " at all.....what if it is significant

> to >his future medical conditions?

>

> I haven't posted in quite a while but am still

> following the list and wanted to respond to this.

>

> My son, , was diagnosed with bilateral, mild

> to moderate, sensorineural hearing loss in August.

> His ENT did order a CT Scan and genetic testing, but

> pretty much seems uninterested in the cause. He said

> we may never know the cause. The person who seems

> more interested in finding a possible cause is the

> genetics doctor (we are seeing an ENT and genetics

> doctor at Children's Hospital in Philadelphia).

>

> 's CT scan showed a SLIGHTLY enlarged

> vestibular aqueduct in his left ear only, but he

> suffers from hearing loss in both ears. The ENT just

> blew by this saying it could be indicative of other

> problems in his ear and isn't going to pursue any

> further testing. The genetics doctor seems more

> interested in finding a possible cause. My DH is

> Jewish and he says there's a higher incidence of

> hearing loss in Ashkenazi Jews (which my DH's

> decendents are). Ben is being tested to see if he

> carries the Conexion 23 (?) gene which has been

> identified in people with hearing loss. If he does,

> then he and possibly us will be undergoing further

> genetic testing since this would have an impact on his

> future and the future of any children he might have.

>

> Terri

>

> __________________________________________________

>

[Guest guest]

> What was the process for genetic testing? Was there a reason they did

that test or was it just routine for that doctor? I think I may need a new

ENT ARGGG!

> ~ and 's Mom

,

It's been my experience that how much further testing is done does depend

very much on both the doctor and the interest that I show in pursuing

things. My son was diagnosed by an audiologist who has little experience

with children. Being new to all of this (only last August), we just bought

into what he said... " your son has a hearing loss, these are the best aids to

get, blah, blah, blah. " (He even suggested ITE aids--for a 4-year-old---but

thank goodness I found Kay's site and did some research there before I

insisted on BTE's.) The audiologist showed no interest in either a cause

for the hearing loss or in the possibility of a progressive loss. He then

sent us to an ENT, who also does not see many children, and this man looked

in my son's ears for a total of 30 seconds, told me that ' loss was

congenital and that " people with hearing losses can be good artists because

they're so visual " , and that was that.

But, it wasn't enough for me! I was certain that had had better

hearing when he was younger and I also wanted to make sure that I was doing

all I could for him. I contacted Children's Hospital-Seattle where I found

ENT's, audiologists, and speech pathologists who not only work with children

but are actually happy to share information. I was not pushed into any

testing at all but when I asked what was available, I was offered a

multitude of choices. We chose to do the CT scan and the Connexin 26

testing. The CT scan (results back in 3 hours) confirmed that has

LVAS and that, yes, we do need to be careful about choosing sports

activities for him. The audiogram showed that has had progressive

loss even since August. The genetic testing will take longer but I'm less

concerned with that because it won't change the decisions we'll need to be

making for at this stage of his life.

Sorry this is so long but I just wanted to add my two cents here. If you

feel that you aren't getting what you need, informational or otherwise, from

your health care professionals then you may need to find someone else. One

thing I would suggest, if it's at all possible, is that you work with people

who specialize in pediatrics. I was referred to Children's Hospital by

another mom from the list and I will always be so grateful to her...and to

Kay for having this list here in the first place.

Carol--Mom to , 4.5, moderate to severe bilateral sensorineural loss