RE: Carmen's CHD7 test results

[Guest guest]

- what now, is just wait. CHARGE is still a clinical

diagnosis - based on the features the kids have, not the DNA results.

I realize it must be a little diappointing to not find a CHD7 mutation

in Carmen. Butreally, kids like Carmen are really important for us to

find out more. Michigan is one of theresearch centers - they will keep

looking for other possible genes for CHARGE and re-test Carmen's DNA

when anything else comes up. In fact. her DNA might be helpful

infinding other genes 9or other ways to look ath the CHD7 gene) for

CHARGE. As a geneticist, I thank you for participating in research.

Meg

Meg Hefner MS

Genetic Counselor

St. Louis MO meg@...

>

> Hi all,

>

> Carmen was a participant in a study at the U of M (Michigan) for the

> CHD7 testing. They did not find the mutation. I know this doesn't

> mean she doesn't have another mutation elsewhere that could be found

> later to relate to CHARGE--but I'm just wondering, what now? Anything?

>

> Thanks, B., mom to Zachary 4.5 years and Carmen 20 months

> (CHARGE)

>

[Guest guest]

- what now, is just wait. CHARGE is still a clinical

diagnosis - based on the features the kids have, not the DNA results.

I realize it must be a little diappointing to not find a CHD7 mutation

in Carmen. Butreally, kids like Carmen are really important for us to

find out more. Michigan is one of theresearch centers - they will keep

looking for other possible genes for CHARGE and re-test Carmen's DNA

when anything else comes up. In fact. her DNA might be helpful

infinding other genes 9or other ways to look ath the CHD7 gene) for

CHARGE. As a geneticist, I thank you for participating in research.

Meg

Meg Hefner MS

Genetic Counselor

St. Louis MO meg@...

>

> Hi all,

>

> Carmen was a participant in a study at the U of M (Michigan) for the

> CHD7 testing. They did not find the mutation. I know this doesn't

> mean she doesn't have another mutation elsewhere that could be found

> later to relate to CHARGE--but I'm just wondering, what now? Anything?

>

> Thanks, B., mom to Zachary 4.5 years and Carmen 20 months

> (CHARGE)

>

[Guest guest]

- what now, is just wait. CHARGE is still a clinical

diagnosis - based on the features the kids have, not the DNA results.

I realize it must be a little diappointing to not find a CHD7 mutation

in Carmen. Butreally, kids like Carmen are really important for us to

find out more. Michigan is one of theresearch centers - they will keep

looking for other possible genes for CHARGE and re-test Carmen's DNA

when anything else comes up. In fact. her DNA might be helpful

infinding other genes 9or other ways to look ath the CHD7 gene) for

CHARGE. As a geneticist, I thank you for participating in research.

Meg

Meg Hefner MS

Genetic Counselor

St. Louis MO meg@...

>

> Hi all,

>

> Carmen was a participant in a study at the U of M (Michigan) for the

> CHD7 testing. They did not find the mutation. I know this doesn't

> mean she doesn't have another mutation elsewhere that could be found

> later to relate to CHARGE--but I'm just wondering, what now? Anything?

>

> Thanks, B., mom to Zachary 4.5 years and Carmen 20 months

> (CHARGE)

>

[Guest guest]

wll neither have many others on here LOL

>

> - what now, is just wait. CHARGE is still a clinical

> diagnosis - based on the features the kids have, not the DNA results.

> I realize it must be a little diappointing to not find a CHD7 mutation

> in Carmen. Butreally, kids like Carmen are really important for us to

> find out more. Michigan is one of theresearch centers - they will keep

> looking for other possible genes for CHARGE and re-test Carmen's DNA

> when anything else comes up. In fact. her DNA might be helpful

> infinding other genes 9or other ways to look ath the CHD7 gene) for

> CHARGE. As a geneticist, I thank you for participating in research.

> Meg

>

> Meg Hefner MS

> Genetic Counselor

> St. Louis MO meg@...

>

>

> >

> > Hi all,

> >

> > Carmen was a participant in a study at the U of M (Michigan) for the

> > CHD7 testing. They did not find the mutation. I know this doesn't

> > mean she doesn't have another mutation elsewhere that could be found

> > later to relate to CHARGE--but I'm just wondering, what now? Anything?

> >

> > Thanks, B., mom to Zachary 4.5 years and Carmen 20 months

> > (CHARGE)

> >

>

>

>

>

>

>

> CHARGE SYNDROME LISTSERV PHOTO PAGE:

> http://www.imagestation.com/album/?id=2117043995

>

> Membership of this email support group does not constitute membership in

> the CHARGE Syndrome Foundation; for information about the CHARGE Syndrome

> Foundation or to become a member (and get the newsletter),

> please contact marion@... or visit

> the web site at http://www.chargesyndrome.org

>

> 8th International

> CHARGE Syndrome Conference, July, 2007. Information will be available at

> www.chargesyndrome.org or by calling 1-.

>

[Guest guest]

Try not to be too dissapointed for not having the gene, I havent seen a

picture of her but ive seen other kids who dont have the gene and they

soooooo look like charge kids

[Guest guest]

Try not to be too dissapointed for not having the gene, I havent seen a

picture of her but ive seen other kids who dont have the gene and they

soooooo look like charge kids

[Guest guest]

,

Don't give up hope. There is most likely another gene for CHARGE that just

hasn't been discovered yet. And then you can enroll in that study.

(mom to Evan 8 mos)

wrote:

Hi all,

Carmen was a participant in a study at the U of M (Michigan) for the

CHD7 testing. They did not find the mutation. I know this doesn't

mean she doesn't have another mutation elsewhere that could be found

later to relate to CHARGE--but I'm just wondering, what now? Anything?

Thanks, B., mom to Zachary 4.5 years and Carmen 20 months

(CHARGE)

CHARGE SYNDROME LISTSERV PHOTO PAGE:

http://www.imagestation.com/album/?id=2117043995

Membership of this email support group does not constitute membership in the

CHARGE Syndrome Foundation; for information about the CHARGE Syndrome

Foundation or to become a member (and get the newsletter),

please contact marion@... or visit

the web site at http://www.chargesyndrome.org

8th International

CHARGE Syndrome Conference, July, 2007. Information will be available at

www.chargesyndrome.org or by calling 1-.

[Guest guest]

Kim,

Are you saying they found a mutation elsewhere? My son Mark has an

appointment in Ann Arbor is July I was thinking of calling this Dr Green

beforehand. Mark is 22 now. At one point long ago a Genetics Dr doing a study

took

all our blood looking for a syndrome on my husbands side of the family I

think it was Wardensberg or something like that. I was at work when he called

back and he said at that time he was going to take another look at my husbands

and Marks but we lost track of him. HARD to believe but true. Anyway I was

just curious.

[Guest guest]

Just to add a thought to the discussion -- another mutation can be quite

meaningless. Not to burst any bubbles, but just to put some cautious

reality into the wonderings. With Aubrie, they found a mutation on the 10th

chromosome or something. When they checked, I have it too -- so it was

determined to be nothing but a little fluke. Apparently, many of us have

little mutations that don't do anything - or might give us some tiny but

insignificant quirk.

When they find something unusual in our kids, they then check to see if a

parent has it. If a parent does, then it must not be CHARGE. If no parent

has it, then it may lead the study to see if they can find that in other

kids.

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

[Guest guest]

, yes that is what he said. They found a mutation just not the

Charge one they thought they would find. From my min. genetics

understanding this could mean they found something or if my husband I

have it, it could mean nothing that it is a " normal " mutation since

neither my husband nor I have symptoms or it could possible be

significant. I don't know exactly how it all goes other then it becomes

a blurr to me. We have been doing genetics counseling lately because I

find myself pregnant at almost 40. This has come as quite a surprise to

us since my husband underwent chemotherapy and a transplant and we were

told he was 99.9% sterile. So I thought I had kidney stones and the

ultrasound tech said no stones but I have a heartbeat!! Well imagine my

surprise! So we are really trying to narrow down the babies chances of

also having Charge. Quite frankly I cannot figure it out and should put

this in Megs hands because they have told me 50/50, 1 in 4 and less then

2%. And due to my age in general 1 in 43 for any birth defect. So we

are just kind of taking it one day at a time. My Charger will be 12 and

my oldest will be 17 so we are still processing a new baby idea. And as

you know with your charger the issues just keeping changing there is

always something to contend with when it comes to raising them.

Dr. Green is very patient friendly and he reads his e-mails also so if

you need his e-mail address I can forward it to you. My son just had

stage 1 of the BAHA implant put in by him. Kim/Michigan

Re: Carmen's CHD7 test results

Kim,

Are you saying they found a mutation elsewhere? My son

Mark has an

appointment in Ann Arbor is July I was thinking of calling this

Dr Green

beforehand. Mark is 22 now. At one point long ago a Genetics Dr

doing a study took

all our blood looking for a syndrome on my husbands side of the

family I

think it was Wardensberg or something like that. I was at work

when he called

back and he said at that time he was going to take another look

at my husbands

and Marks but we lost track of him. HARD to believe but true.

Anyway I was

just curious.

[Guest guest]

, yes that is what he said. They found a mutation just not the

Charge one they thought they would find. From my min. genetics

understanding this could mean they found something or if my husband I

have it, it could mean nothing that it is a " normal " mutation since

neither my husband nor I have symptoms or it could possible be

significant. I don't know exactly how it all goes other then it becomes

a blurr to me. We have been doing genetics counseling lately because I

find myself pregnant at almost 40. This has come as quite a surprise to

us since my husband underwent chemotherapy and a transplant and we were

told he was 99.9% sterile. So I thought I had kidney stones and the

ultrasound tech said no stones but I have a heartbeat!! Well imagine my

surprise! So we are really trying to narrow down the babies chances of

also having Charge. Quite frankly I cannot figure it out and should put

this in Megs hands because they have told me 50/50, 1 in 4 and less then

2%. And due to my age in general 1 in 43 for any birth defect. So we

are just kind of taking it one day at a time. My Charger will be 12 and

my oldest will be 17 so we are still processing a new baby idea. And as

you know with your charger the issues just keeping changing there is

always something to contend with when it comes to raising them.

Dr. Green is very patient friendly and he reads his e-mails also so if

you need his e-mail address I can forward it to you. My son just had

stage 1 of the BAHA implant put in by him. Kim/Michigan

Re: Carmen's CHD7 test results

Kim,

Are you saying they found a mutation elsewhere? My son

Mark has an

appointment in Ann Arbor is July I was thinking of calling this

Dr Green

beforehand. Mark is 22 now. At one point long ago a Genetics Dr

doing a study took

all our blood looking for a syndrome on my husbands side of the

family I

think it was Wardensberg or something like that. I was at work

when he called

back and he said at that time he was going to take another look

at my husbands

and Marks but we lost track of him. HARD to believe but true.

Anyway I was

just curious.

[Guest guest]

, yes that is what he said. They found a mutation just not the

Charge one they thought they would find. From my min. genetics

understanding this could mean they found something or if my husband I

have it, it could mean nothing that it is a " normal " mutation since

neither my husband nor I have symptoms or it could possible be

significant. I don't know exactly how it all goes other then it becomes

a blurr to me. We have been doing genetics counseling lately because I

find myself pregnant at almost 40. This has come as quite a surprise to

us since my husband underwent chemotherapy and a transplant and we were

told he was 99.9% sterile. So I thought I had kidney stones and the

ultrasound tech said no stones but I have a heartbeat!! Well imagine my

surprise! So we are really trying to narrow down the babies chances of

also having Charge. Quite frankly I cannot figure it out and should put

this in Megs hands because they have told me 50/50, 1 in 4 and less then

2%. And due to my age in general 1 in 43 for any birth defect. So we

are just kind of taking it one day at a time. My Charger will be 12 and

my oldest will be 17 so we are still processing a new baby idea. And as

you know with your charger the issues just keeping changing there is

always something to contend with when it comes to raising them.

Dr. Green is very patient friendly and he reads his e-mails also so if

you need his e-mail address I can forward it to you. My son just had

stage 1 of the BAHA implant put in by him. Kim/Michigan

Re: Carmen's CHD7 test results

Kim,

Are you saying they found a mutation elsewhere? My son

Mark has an

appointment in Ann Arbor is July I was thinking of calling this

Dr Green

beforehand. Mark is 22 now. At one point long ago a Genetics Dr

doing a study took

all our blood looking for a syndrome on my husbands side of the

family I

think it was Wardensberg or something like that. I was at work

when he called

back and he said at that time he was going to take another look

at my husbands

and Marks but we lost track of him. HARD to believe but true.

Anyway I was

just curious.

[Guest guest]

Kim-

I just read about your new pregnancy. Eegads. I can't even imagine such a

surprise! I think the recurrence risk for CHARGE is 2% or so according to

the manual. I know it's easy to say, but I don't think it's anymore a risk

than it was when you had the first one. Maternal age doesn't appear to be a

factor in CHARGE. However, I remember that they decided paternal age may be

a factor -- quite to my delight in letting go of some guilt and shifting it

right over to my hubby knowing it won't bother him in the least ;-)

With all the issues of your husband (who I'm glad is fine, BTW!), your age,

and having a child with CHARGE already, I'm sure your head is spinning.

Pregnant women have natural worries anyway... but talk about compounding it,

huh?

I hope the shock will wear off and leave nothing but joy, a delightful

pregnancy, an easy delivery, and a " medically unremarkable " baby. And if

you're given any hiccups along the way, I hope you and your family can use

all the strength you've surely developed on your journey so far to get

through it just fine. So - congratulations!

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

[Guest guest]

Michele W. Thank you for the lovely thoughts. Life is always full of

surprizes. I guess for us the percent thing makes us nervous...for

instance my husband had less then 10% survival and he lived and then

this baby thing less then 1% gees! Kim/Michigan

RE: Carmen's CHD7 test results

Kim-

I just read about your new pregnancy. Eegads. I can't even

imagine such a

surprise! I think the recurrence risk for CHARGE is 2% or so

according to

the manual. I know it's easy to say, but I don't think it's

anymore a risk

than it was when you had the first one. Maternal age doesn't

appear to be a

factor in CHARGE. However, I remember that they decided

paternal age may be

a factor -- quite to my delight in letting go of some guilt and

shifting it

right over to my hubby knowing it won't bother him in the least

;-)

With all the issues of your husband (who I'm glad is fine,

BTW!), your age,

and having a child with CHARGE already, I'm sure your head is

spinning.

Pregnant women have natural worries anyway... but talk about

compounding it,

huh?

I hope the shock will wear off and leave nothing but joy, a

delightful

pregnancy, an easy delivery, and a " medically unremarkable "

baby. And if

you're given any hiccups along the way, I hope you and your

family can use

all the strength you've surely developed on your journey so far

to get

through it just fine. So - congratulations!

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

CHARGE SYNDROME LISTSERV PHOTO PAGE:

http://www.imagestation.com/album/?id=2117043995

Membership of this email support group does not constitute

membership in the CHARGE Syndrome Foundation; for information about the

CHARGE Syndrome

Foundation or to become a member (and get the newsletter),

please contact marion@... or visit

the web site at http://www.chargesyndrome.org

8th International

CHARGE Syndrome Conference, July, 2007. Information will be

available at www.chargesyndrome.org or by calling 1-.

[Guest guest]

Let's hope you're in the opposite side of the percentages this time! Just

figure you will always get the good outcome despite the odds!

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

" I guess for us the percent thing makes us nervous...for

instance my husband had less then 10% survival and he lived and then

this baby thing less then 1% gees! " Kim/Michigan

[Guest guest]

Let's hope you're in the opposite side of the percentages this time! Just

figure you will always get the good outcome despite the odds!

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

" I guess for us the percent thing makes us nervous...for

instance my husband had less then 10% survival and he lived and then

this baby thing less then 1% gees! " Kim/Michigan

[Guest guest]

Michele that is what my daughter said too!! Kim/Michigan

RE: Carmen's CHD7 test results

Let's hope you're in the opposite side of the percentages this

time! Just

figure you will always get the good outcome despite the odds!

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

" I guess for us the percent thing makes us nervous...for

instance my husband had less then 10% survival and he lived and

then

this baby thing less then 1% gees! " Kim/Michigan

CHARGE SYNDROME LISTSERV PHOTO PAGE:

http://www.imagestation.com/album/?id=2117043995

Membership of this email support group does not constitute

membership in the CHARGE Syndrome Foundation; for information about the

CHARGE Syndrome

Foundation or to become a member (and get the newsletter),

please contact marion@... or visit

the web site at http://www.chargesyndrome.org

8th International

CHARGE Syndrome Conference, July, 2007. Information will be

available at www.chargesyndrome.org or by calling 1-.

[Guest guest]

Michele that is what my daughter said too!! Kim/Michigan

RE: Carmen's CHD7 test results

Let's hope you're in the opposite side of the percentages this

time! Just

figure you will always get the good outcome despite the odds!

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

" I guess for us the percent thing makes us nervous...for

instance my husband had less then 10% survival and he lived and

then

this baby thing less then 1% gees! " Kim/Michigan

CHARGE SYNDROME LISTSERV PHOTO PAGE:

http://www.imagestation.com/album/?id=2117043995

Membership of this email support group does not constitute

membership in the CHARGE Syndrome Foundation; for information about the

CHARGE Syndrome

Foundation or to become a member (and get the newsletter),

please contact marion@... or visit

the web site at http://www.chargesyndrome.org

8th International

CHARGE Syndrome Conference, July, 2007. Information will be

available at www.chargesyndrome.org or by calling 1-.

[Guest guest]

Michele that is what my daughter said too!! Kim/Michigan

RE: Carmen's CHD7 test results

Let's hope you're in the opposite side of the percentages this

time! Just

figure you will always get the good outcome despite the odds!

Michele W

mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

" I guess for us the percent thing makes us nervous...for

instance my husband had less then 10% survival and he lived and

then

this baby thing less then 1% gees! " Kim/Michigan

CHARGE SYNDROME LISTSERV PHOTO PAGE:

http://www.imagestation.com/album/?id=2117043995

Membership of this email support group does not constitute

membership in the CHARGE Syndrome Foundation; for information about the

CHARGE Syndrome

Foundation or to become a member (and get the newsletter),

please contact marion@... or visit

the web site at http://www.chargesyndrome.org

8th International

CHARGE Syndrome Conference, July, 2007. Information will be

available at www.chargesyndrome.org or by calling 1-.

[Guest guest]

" We have been doing genetics counseling lately because I

find myself pregnant at almost 40. This has come as quite a surprise to

us since my husband underwent chemotherapy and a transplant and we were

told he was 99.9% sterile. So I thought I had kidney stones and the

ultrasound tech said no stones but I have a heartbeat!! Well imagine my

surprise! "

Congradulations Kim...what an amazing, miraculous surprise. I am praying for

an uneventful pregnancy & birth for you.

Hugs,

(mom to Evan 8 mos)

---------------------------------

Yahoo! Mail

Bring photos to life! New PhotoMail makes sharing a breeze.

[Guest guest]

" We have been doing genetics counseling lately because I

find myself pregnant at almost 40. This has come as quite a surprise to

us since my husband underwent chemotherapy and a transplant and we were

told he was 99.9% sterile. So I thought I had kidney stones and the

ultrasound tech said no stones but I have a heartbeat!! Well imagine my

surprise! "

Congradulations Kim...what an amazing, miraculous surprise. I am praying for

an uneventful pregnancy & birth for you.

Hugs,

(mom to Evan 8 mos)

---------------------------------

Yahoo! Mail

Bring photos to life! New PhotoMail makes sharing a breeze.

[Guest guest]

Kim,

WOW what news! YIKES. That must have been a real shocker. I am

wishing you the best Closer to our Ann Arbor date I might request his e

mail.

[Guest guest]

Kim,

WOW what news! YIKES. That must have been a real shocker. I am

wishing you the best Closer to our Ann Arbor date I might request his e

mail.

[Guest guest]

Kim,

WOW what news! YIKES. That must have been a real shocker. I am

wishing you the best Closer to our Ann Arbor date I might request his e

mail.

[Guest guest]

Kim,

Congratulations on the new pregnancy - as Michele said I am sure your

head is spinning. Hope you get it all figured out to a point that you

can feel comfortable moving forward.

Kim

> Kim-

> I just read about your new pregnancy. Eegads. I can't even imagine such a

> surprise! I think the recurrence risk for CHARGE is 2% or so according to

> the manual. I know it's easy to say, but I don't think it's anymore a risk

> than it was when you had the first one. Maternal age doesn't appear to be a

> factor in CHARGE. However, I remember that they decided paternal age may be

> a factor -- quite to my delight in letting go of some guilt and shifting it

> right over to my hubby knowing it won't bother him in the least ;-)

>

> With all the issues of your husband (who I'm glad is fine, BTW!), your age,

> and having a child with CHARGE already, I'm sure your head is spinning.

> Pregnant women have natural worries anyway... but talk about compounding it,

> huh?

>

> I hope the shock will wear off and leave nothing but joy, a delightful

> pregnancy, an easy delivery, and a " medically unremarkable " baby. And if

> you're given any hiccups along the way, I hope you and your family can use

> all the strength you've surely developed on your journey so far to get

> through it just fine. So - congratulations!

>

> Michele W

> mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ

>

>

>

>

>

> CHARGE SYNDROME LISTSERV PHOTO PAGE:

> http://www.imagestation.com/album/?id=2117043995

>

> Membership of this email support group does not constitute membership in the

CHARGE Syndrome Foundation; for information about the CHARGE Syndrome

> Foundation or to become a member (and get the newsletter),

> please contact marion@... or visit

> the web site at http://www.chargesyndrome.org

>

> 8th International

> CHARGE Syndrome Conference, July, 2007. Information will be available at

www.chargesyndrome.org or by calling 1-.

>