Re: Genetic testing..our experience

[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!>>

On the subject of genetic testing..our ENT has been

pretty much useless. All the testing we've had done

was thru our pediatrician. actually had

genetic testing done BEFORE it was confirmed that he

had a hearing loss. The doctors say he has a misshapen

head, his eyes slope, his chin is small and that he

has a prominent nose, to name a few things. They had

thought he had a particular syndrome, the name of

which escapes me now, but everything turned out ok.

This round of genetic testing took place at Balboa

Naval Hospital in San Diego. We moved to CT and his

loss was finally confirmed(gee, only took 3 yrs) and

he was seen at the Yale Genetics clinic. Once again

all the testing came back normal and we were told

" your son has problems but we cannot group it all

together or give you a cause. " Ok, fine. Finally I

decided that we're probably going to never know the

true reason for his loss(we have a few thoughts but

nothing can be proven). At this point we've decided to

cease all doctors visit unless they are necessary, i.e

broken aids, illness, etc. I've even decided to quit

trying for the cochlear implant because that whole

thing was just frustrating for all of us. We've

decided to wait and let him make a decision as to what

he wants to do as he gets older. I think as you go

down the road you'll figure out what testing is really

what you want and what isnt. Its definitely never easy

though, but isnt that all about being a parent :-)

--- CBenecke wrote:

> > 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

>

>

>

>

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