our daughter

May 15, 2006

In a message dated 5/15/2006 2:08:22 P.M. Eastern Daylight Time,

thetomlinsons@... writes:

Sheesh. What do you deduce when you have all that to sift

through?

I'd take all those details to a geneticist. There are so many syndromes that

only someone trained in that can make this call.

We did this because I know that some syndromes can be a rollercoaster ride

during puberty. So we took Ian to a geneticist to see if that would shed some

light on things to come. We'd already ruled out several syndromes which could

have life threatening components, but at that point I was not ready to go

digging for more. I couldn't handle it.

But after our life settled in a bit with the aids and the audiologist

routine visits, life developed a bit of a normal rhythm. I was then emotionally

ready to see a geneticist. So we went.

Dr. n (Blyethdale & Montefiore) took a complete family history, asking

questions almost faster than I can talk (quite an accomplishment!). He did a

very basic physical and neurological exam. After all was done, his diagnosis

was a syndrome that no one had ever mentioned before. But he's right. I went

online afterwards and looked it up, read everything I could find. And in

there was our son -- things that never fell into place before now make sense.

Everything fell into place for me except the progressive nature of the loss.

The

geneticist is not worried about that detail, says it is not uncommon. (but

for me it still doesn't make sense.)

So, if you really want to tie all those little details together, in our

experience, the only person who can do that is a geneticist. The ENTs and

audiologist and other specialists know about syndromes that have markers within

their speciality, but that's where their knowledge ends. The geneticist has a

bigger overview, because that is his/her speciality.

I don't regret taking Ian to Dr, n, but I'll admit I was really nervous

about it. Having an answer was what I wanted, but having an answer was also

scary because it had some finality to it.

Best -- Jill

May 15, 2006

Here is all I know about our daughter and her diagnosis . . . I would love

for you all to read over it, and from your experiences, tell me what you

think . . .

She failed her newborn hearing screen in her left ear. After going through

a sacral dimple scare and then having our ped tell us she could hear fine,

we did not pursue any more testing for hearing. We noticed no problem with

her hearing--she developed normally with her language and is in fact very

advanced in her speech and vocabulary--until she was 3 1/2 and had her first

and only ear infection in her now referred to GOOD ear. Because it was

compromised, she started ignoring us and we noticed her reading our lips.

Several people tried to tell me the Augmentin and Zithromax I was given for

her probably caused her present hearing loss that was screened later . . .

but my thinking is that she failed her newborn screen . . . and she was

rendered almost deaf when she had an infection in her better ear . . . so we

think she has always had the loss. Then someone tells me that she could not

have had LVAS since birth because your vestib. aqueducts don't even

completely finish growing until sometime after birth. Hmmmmm . . .

Confusing as heck! Then we have the added confusion of her umbilical cord

was extremely knotted in two places (did she lose oxygen and lose hearing) .

.. . then there's the element of she had a sacral dimple (did she just have

some developmental problems in utero) . . . then we can throw in the fact

that my aunt is " nerve deaf " in one of her ears, but they THINK that was

caused by a high fever she suffered as a child . . . and there's the final

addition of I have a cousin with a craniofacial anomaly and I have two

slightly webbed toes on each foot which is sometimes linked with those

craniofacial anomalies; however Sydney has no craniofacial anomaly and I do

not either. Sheesh. What do you deduce when you have all that to sift

through?

No cochlear malformation

No ear malformations at all

Sensorineural loss only

Aqueduct midpoint 1.5mm and operculum 2.00mm (right side)--her moderate ear

????

Aqueduct midpoint 1.2mm (first doctor said 1.4) and operculum 1.0mm (left

side)--her severe ear ????--strange to me that the aqueduct is more normal

(Normal range for midpoint ends at 1.2 and 2.0 for operculum)

Relatively flat configuration on both sides, more severe on left (so no

ski-slope or reverse slope loss)

The doctor's professional opinion was that " most of the evidence suggests

LVAS is possible given how common this diagnosis is and the abnormal

midpoint measurements " (his words) plus, he " would not suggest any lifestyle

changes " , " just be sensible about protecting her head from trauma, and be

certain to have periodic audiograms to check for progression of her hearing

loss " and " she should also have a blood sample sent for genetic causes of

hearing loss such as Connexin 26 and Pendrin " .

I don't read the audiograms too well, but she has word recognition of 96% in

her right ear and 52% in her left ear (this is in silence). She has a W for

R problem noted. Her speech level is recorded as 70 dB for her right ear

and 85 dB for her left ear. Not sure what that means. We've been told she

can hear at around 35 dB in her good (right) ear, but it takes 70-75 dB for

her to hear in her bad (left) ear.

Anyone else have similarities? Do any of you have any thoughts,

recommendations . . . other than SIT DOWN WITH THE AUDI AND HAVE HER EXPLAIN

THE REPORTS? LOL. Or . . . go get some blood tests and maybe a perchlorate

discharge test for her?

Thanks,

Robin

May 15, 2006

Hi Robin,

Janet again from the LVAS list. Because you have another family member with

hearing loss,

you may qualify for the NIH study. They are probably the only ones who can tell

you for

sure if it's LVAS - you just send in the scans and they'll tell you whether you

qualify.

Testing includes perchlorate discharge. The catch is your aunt also has to agree

to

participate. We are pursuing this also - I have a cousin and uncle with similar

issues, but

they haven't yet been diagnosed with LVAS.

Janet

>

> Here is all I know about our daughter and her diagnosis . . . I would love

> for you all to read over it, and from your experiences, tell me what you

> think . . .

>

> She failed her newborn hearing screen in her left ear. After going through

> a sacral dimple scare and then having our ped tell us she could hear fine,

> we did not pursue any more testing for hearing. We noticed no problem with

> her hearing--she developed normally with her language and is in fact very

> advanced in her speech and vocabulary--until she was 3 1/2 and had her first

> and only ear infection in her now referred to GOOD ear. Because it was

> compromised, she started ignoring us and we noticed her reading our lips.

> Several people tried to tell me the Augmentin and Zithromax I was given for

> her probably caused her present hearing loss that was screened later . . .

> but my thinking is that she failed her newborn screen . . . and she was

> rendered almost deaf when she had an infection in her better ear . . . so we

> think she has always had the loss. Then someone tells me that she could not

> have had LVAS since birth because your vestib. aqueducts don't even

> completely finish growing until sometime after birth. Hmmmmm . . .

> Confusing as heck! Then we have the added confusion of her umbilical cord

> was extremely knotted in two places (did she lose oxygen and lose hearing) .

> . . then there's the element of she had a sacral dimple (did she just have

> some developmental problems in utero) . . . then we can throw in the fact

> that my aunt is " nerve deaf " in one of her ears, but they THINK that was

> caused by a high fever she suffered as a child . . . and there's the final

> addition of I have a cousin with a craniofacial anomaly and I have two

> slightly webbed toes on each foot which is sometimes linked with those

> craniofacial anomalies; however Sydney has no craniofacial anomaly and I do

> not either. Sheesh. What do you deduce when you have all that to sift

> through?

>

> No cochlear malformation

>

> No ear malformations at all

>

> Sensorineural loss only

>

> Aqueduct midpoint 1.5mm and operculum 2.00mm (right side)--her moderate ear

> ????

> Aqueduct midpoint 1.2mm (first doctor said 1.4) and operculum 1.0mm (left

> side)--her severe ear ????--strange to me that the aqueduct is more normal

> (Normal range for midpoint ends at 1.2 and 2.0 for operculum)

>

> Relatively flat configuration on both sides, more severe on left (so no

> ski-slope or reverse slope loss)

>

> The doctor's professional opinion was that " most of the evidence suggests

> LVAS is possible given how common this diagnosis is and the abnormal

> midpoint measurements " (his words) plus, he " would not suggest any lifestyle

> changes " , " just be sensible about protecting her head from trauma, and be

> certain to have periodic audiograms to check for progression of her hearing

> loss " and " she should also have a blood sample sent for genetic causes of

> hearing loss such as Connexin 26 and Pendrin " .

>

> I don't read the audiograms too well, but she has word recognition of 96% in

> her right ear and 52% in her left ear (this is in silence). She has a W for

> R problem noted. Her speech level is recorded as 70 dB for her right ear

> and 85 dB for her left ear. Not sure what that means. We've been told she

> can hear at around 35 dB in her good (right) ear, but it takes 70-75 dB for

> her to hear in her bad (left) ear.

>

> Anyone else have similarities? Do any of you have any thoughts,

> recommendations . . . other than SIT DOWN WITH THE AUDI AND HAVE HER EXPLAIN

> THE REPORTS? LOL. Or . . . go get some blood tests and maybe a perchlorate

> discharge test for her?

>

> Thanks,

> Robin

>

May 15, 2006

Hi Robin - like you mention, the fact that her hearing loss has been

present from birth would say to me that it's genetic and not caused by

other, external factors. And the fact that you have a relative with

hearing loss makes me think that even more. You sound like our family!

My brother had " nerve deafness " (which I now realize is sensorineural

hearing loss). Plus I have an uncle and a nephew on my mom's side of

the family with hearing loss too.

You said:

I don't read the audiograms too well, but she has word recognition of 96% in

her right ear and 52% in her left ear (this is in silence). She has a W for

R problem noted. Her speech level is recorded as 70 dB for her right ear

and 85 dB for her left ear. Not sure what that means. We've been told she

can hear at around 35 dB in her good (right) ear, but it takes 70-75 dB for

her to hear in her bad (left) ear.

a 96% word recognition score is excellent - 52% isn't okay. I can't

remember how old your daughter is and is she aided? The 70 db for the

right ear and 85 db for the left are likely her SRT scores (speech

recognition threshold). The SRT is the average of three frequencies on

the audiogram - 500, 1000, and 2000 Hz - that often given an idea of the

person's hearing loss, particularly where speech is concerned. So a 70

db SRT is I think a severe loss; 85 db SRT is a severe/profound loss.

Again, that's taking the measure of just three points on the audiogram

and averaging so she could be hearing better than this indicates. Does

this make sense? And where does the 35 db in her good ear come in?

It's not a bad idea to have a CT scan on your daughter - that will rule

out certain things - and also to have genetic screening as they said -

to rule out connexin, etc. Just realize that genetic testing may not

tell you anything - it hasn't for us. We know it's likely some sort of

x-linked recessive genetic situation but so far they haven't identified

the gene marker for it.

good luck! I know it's hard not knowing...

Barbara

Robin Tomlinson wrote: