Re: Reg Baylor Research Study result and GeneDX

[Guest guest]

Hari,

At this point, I would not recommend repeating testing (at GeneDx or

anywhere). As you probably know, about 1/3 kids with CHARGE do not

have a mutation identified (negatie testing). A few kids who were

negative to start were later found to be positive. That is because

the test methods are getting better and better - Baylor will probably

re-test your son's DNA when their test gets better. Since you are

coming to California, either go to the talks by Dr. Lalani from Baylor

and/or Dr. van Ravenswaaij from the Netherlands or just catch one of

them at the conference (they will be around the whole time and are

happy to answer questions) and ask their opinions about further

testing. they will be able to explain to you what the pros and cons

of doing more testing now or waiting (until the tests get better

and/or more genes for CHARGE are discovered).

meg

Meg Hefner MS

genetic counselor, St. Louis, MO

>

> Hello All,

> I am Hari Priya and I have a 3.9 yr old son, I was offline for a while.

> But I do check messgs once in a while and I am attending the

> conference this July.

>

> My son's name is Mihir who will turn 4 yrs in SEP,2007 and was

> diagnosed with CHARGE when he was 2 months old, he has MILD features of

> CHARGE but my genetic couselor confirmed it is CHARGE.

>

> We participated in the CHARGE gene research study at Baylor Medical

> College in 2005. We came to know the result couple of days back and it

> is NEGATIVE. I mean the gene is not mutated that caused CHARGE.

>

> I want to know the details of other families who participated in Baylor

> study and the result is -ve. The reason is I want to discuss if any one

> of them have gone to GeneDX for furthur tests.

>

> Any family who went to GENEDx for tests also pls can u respond to my

> email.

>

> We r in a window period where we can switch the health insurance, so I

> am asking all this help so that I can choose the insurance that can

> cover this GeneDX test or would co-ooperate to send the samples atleast

> and we r ready to pay for it.

>

> Any geneticists in the group--pls can u explain how the GeneDx test is

> different from Baylor test.

>

> Thanks to all,

> Hari

>

[Guest guest]

Hari-

I remember meeting you and Mihir in Miami. My daughter, Aubrie, is also

" mild " and tested negative for the CHD7 gene through the Baylor testing. We

haven't pursued further testing because we're sure she's got CHARGE. What

gene is causing it is not a concern to us at this time. Of course, as

further testing becomes available through the Baylor study, I assume

Aubrie's blood will be used and we'll find out if she ever tests positive

for something.

I look forward to seeing you again in CA!

Michele W

[Guest guest]

Hello Meg,

Thanks for ur reply.

I do know some children were tested negative from the Baylor study.

I think I showed my son's pictures to u when I met u at the Miami

conference. He does have CHARGE features but they r not MAJOR.

Even Dr. Davenport and Dr.Lalani doubted if Mihir has CHARGE

and if we saw a geneticist. The clinical disgnosis confirms IT IS

CHARGE.

Anyways thanks for suggesting me to wait for the tests would become

better every yr. Thats true, but I can't wait to find out what caused

Mihir those condition. So I sent out that mail.

C u all again in July--I am bringing my son and husband to the

conference this time as I am in CA R u coming?

Hari

> >

> > Hello All,

> > I am Hari Priya and I have a 3.9 yr old son, I was offline for a

while.

> > But I do check messgs once in a while and I am attending the

> > conference this July.

> >

> > My son's name is Mihir who will turn 4 yrs in SEP,2007 and was

> > diagnosed with CHARGE when he was 2 months old, he has MILD

features of

> > CHARGE but my genetic couselor confirmed it is CHARGE.

> >

> > We participated in the CHARGE gene research study at Baylor

Medical

> > College in 2005. We came to know the result couple of days back

and it

> > is NEGATIVE. I mean the gene is not mutated that caused CHARGE.

> >

> > I want to know the details of other families who participated in

Baylor

> > study and the result is -ve. The reason is I want to discuss if

any one

> > of them have gone to GeneDX for furthur tests.

> >

> > Any family who went to GENEDx for tests also pls can u respond to

my

> > email.

> >

> > We r in a window period where we can switch the health insurance,

so I

> > am asking all this help so that I can choose the insurance that

can

> > cover this GeneDX test or would co-ooperate to send the samples

atleast

> > and we r ready to pay for it.

> >

> > Any geneticists in the group--pls can u explain how the GeneDx

test is

> > different from Baylor test.

> >

> > Thanks to all,

> > Hari

> >

>

[Guest guest]

Hei Michele,

I do remember u and was waiting that u WOULD reply me

How r u doing?

I didn't get my son to Miami, but got his pictures.

We r not sure or convinced that Mihir has CHARGE, so I am into more

testing.

I am coming with my family this time to the conference as I live in

CA. U can meet my son and husband.

U can see some of our recent pics at

picasaweb.google.com/aharipriya

Do send me ur pics to my gmail id--aharipriya@...

Hari

>

> Hari-

>

> I remember meeting you and Mihir in Miami. My daughter, Aubrie, is

also

> " mild " and tested negative for the CHD7 gene through the Baylor

testing. We

> haven't pursued further testing because we're sure she's got

CHARGE. What

> gene is causing it is not a concern to us at this time. Of course,

as

> further testing becomes available through the Baylor study, I assume

> Aubrie's blood will be used and we'll find out if she ever tests

positive

> for something.

>

>

>

> I look forward to seeing you again in CA!

>

> Michele W

>

>

>

>

>

>