Re: Genetic testing and its results - CHD-7

[Guest guest]

and another thing on the severity charge varies some can b quite mild and

soem can b severe at first but get better over time liek me and others can b

real bad and even die so we r all really diverese so i say its probly charge

with no gene LOL

>

> can someone fwd this to meg pls and a think i think she has charge she has

> all the things that i read and as meg has said a million times here and ive

> read it if we dont have the gene doesnt mean we dont have charge im a 21

> year old charge in aus never had the testing nor do i knosw if i could but i

> know a number on here have and bout fifty percent on here that have have the

> gene fifty percent dont but still have the charge features so in my opionon

> and everyone i know will agree here i think she has charge hugs ellen

>

>

> >

> > Hello group members,

> > I have been on the listserv for approximately 4 years as my youngest

> > daughter Nettie Faith was born with bilateral choanal atresia, is

> > deaf (wears a cochlear implant), visually challenged, severe

> > hypotonia, g-tube reliant, significant respiratory issues, anal

> > anomoly (surgically corrected as well), developmentally delayed,

> > born with a unilateral polydactly / syndactly, duplicating

> > collecting system etc. We, along with Geneticists suspsected Nettie

> > had CHARGE and we attended the CHARGE conference in Florida where we

> > learned about the CHD-7 gene. During the conference, that both my

> > husband ph and I attended with Nettie, we noticed that Nettie

> > seemed to have been more severely physically and cognitively

> > challenged than some of the other children. We had already done a

> > lot of genetic testing that did not show anything, all chromosomes

> > etc. looked normal. After hearing about the CHD-7, we decided to

> > have this testing done, and we received the results whioh showed

> > that Nettie actually does not have CHARGE based upon the CHD-7

> > testing, in conjunction with the prior testing. We are still

> > searching for the association / syndrome that Nettie may fall into.

> > Just thought I would share this with the group. Feel free to pass

> > this on to the Genetic presenters at the Florida conference as I do

> > not have their contact information. To reach me directly, kindly

> > email to me at cbbalsam@... <cbbalsam%40yahoo.com>

> > Thank you and kind wishes,

> > Cindy - Mother of 4 children, our youngest Nettie has multiple

> > medical and developmental challenges

> >

> >

> >

>

>

[Guest guest]

Cindy--

Eddie was tested and was negative, too. The team at Baylor University

told me that about 40% of the chargers they tested do not have that

mutation. It doesn't necessarily mean it's not charge, just that there

might be a different mutation that hasn't been found yet. They're still

looking.

joanne

mom to & Eddie (charge)

> Hello group members,

> I have been on the listserv for approximately 4 years as my youngest

> daughter Nettie Faith was born with bilateral choanal atresia, is

> deaf (wears a cochlear implant), visually challenged, severe

> hypotonia, g-tube reliant, significant respiratory issues, anal

> anomoly (surgically corrected as well), developmentally delayed,

> born with a unilateral polydactly / syndactly, duplicating

> collecting system etc. We, along with Geneticists suspsected Nettie

> had CHARGE and we attended the CHARGE conference in Florida where we

> learned about the CHD-7 gene. During the conference, that both my

> husband ph and I attended with Nettie, we noticed that Nettie

> seemed to have been more severely physically and cognitively

> challenged than some of the other children. We had already done a

> lot of genetic testing that did not show anything, all chromosomes

> etc. looked normal. After hearing about the CHD-7, we decided to

> have this testing done, and we received the results whioh showed

> that Nettie actually does not have CHARGE based upon the CHD-7

> testing, in conjunction with the prior testing. We are still

> searching for the association / syndrome that Nettie may fall into.

> Just thought I would share this with the group. Feel free to pass

> this on to the Genetic presenters at the Florida conference as I do

> not have their contact information. To reach me directly, kindly

> email to me at cbbalsam@...

> Thank you and kind wishes,

> Cindy - Mother of 4 children, our youngest Nettie has multiple

> medical and developmental challenges

>

>

>

[Guest guest]

Cindi,

Well you are still welcome here on the list, there are lots of similarities

between Nettie and the others and I'm sure you'll find useful information.

Also, they believe there will be more than one genetic causation found for

CHARGE in the future and Nettie may have one of those mutations as opposed

to the CHD7 so it won't hurt to stay in touch!

Hugs,

www.chargesyndrome.info

>

> Hello group members,

> I have been on the listserv for approximately 4 years as my youngest

> daughter Nettie Faith was born with bilateral choanal atresia, is

> deaf (wears a cochlear implant), visually challenged, severe

> hypotonia, g-tube reliant, significant respiratory issues, anal

> anomoly (surgically corrected as well), developmentally delayed,

> born with a unilateral polydactly / syndactly, duplicating

> collecting system etc. We, along with Geneticists suspsected Nettie

> had CHARGE and we attended the CHARGE conference in Florida where we

> learned about the CHD-7 gene. During the conference, that both my

> husband ph and I attended with Nettie, we noticed that Nettie

> seemed to have been more severely physically and cognitively

> challenged than some of the other children. We had already done a

> lot of genetic testing that did not show anything, all chromosomes

> etc. looked normal. After hearing about the CHD-7, we decided to

> have this testing done, and we received the results whioh showed

> that Nettie actually does not have CHARGE based upon the CHD-7

> testing, in conjunction with the prior testing. We are still

> searching for the association / syndrome that Nettie may fall into.

> Just thought I would share this with the group. Feel free to pass

> this on to the Genetic presenters at the Florida conference as I do

> not have their contact information. To reach me directly, kindly

> email to me at cbbalsam@... <cbbalsam%40yahoo.com>

> Thank you and kind wishes,

> Cindy - Mother of 4 children, our youngest Nettie has multiple

> medical and developmental challenges

>

>

>

--

" It is far better to grasp the universe as it really is than to persist in

delusion, however satisfying and reassuring. " --Carl Sagan

[Guest guest]

She is right. My son is one of those that they are retesting down at Baylor in

Houston. My son has the triangle in both ears and looks like a child will

CHARGE.

I would not dismiss it all together!

, Randy & Garland (5) Goodwin

---- Joanne Lent wrote:

=============

Cindy--

Eddie was tested and was negative, too. The team at Baylor University

told me that about 40% of the chargers they tested do not have that

mutation. It doesn't necessarily mean it's not charge, just that there

might be a different mutation that hasn't been found yet. They're still

looking.

joanne

mom to & Eddie (charge)

> Hello group members,

> I have been on the listserv for approximately 4 years as my youngest

> daughter Nettie Faith was born with bilateral choanal atresia, is

> deaf (wears a cochlear implant), visually challenged, severe

> hypotonia, g-tube reliant, significant respiratory issues, anal

> anomoly (surgically corrected as well), developmentally delayed,

> born with a unilateral polydactly / syndactly, duplicating

> collecting system etc. We, along with Geneticists suspsected Nettie

> had CHARGE and we attended the CHARGE conference in Florida where we

> learned about the CHD-7 gene. During the conference, that both my

> husband ph and I attended with Nettie, we noticed that Nettie

> seemed to have been more severely physically and cognitively

> challenged than some of the other children. We had already done a

> lot of genetic testing that did not show anything, all chromosomes

> etc. looked normal. After hearing about the CHD-7, we decided to

> have this testing done, and we received the results whioh showed

> that Nettie actually does not have CHARGE based upon the CHD-7

> testing, in conjunction with the prior testing. We are still

> searching for the association / syndrome that Nettie may fall into.

> Just thought I would share this with the group. Feel free to pass

> this on to the Genetic presenters at the Florida conference as I do

> not have their contact information. To reach me directly, kindly

> email to me at cbbalsam@...

> Thank you and kind wishes,

> Cindy - Mother of 4 children, our youngest Nettie has multiple

> medical and developmental challenges

>

>

>

[Guest guest]

We have requested that they do this test for Cai, we were told it will

take a few months to get the results and its one thing the insurance

wont pay for, the DNA expert also said he didn't think they would find

the gene as Cai has come out of the blue, i.e there is nothing similar

to Cai in either my family or my wifes family , he also promised to send

us the article on this gene but haven't seen it yet.

The bit he did tell us was he thought it was only active in the first 30

days of life as it was something to do with packaging the genes for the

main organs, hence people with charge having multiple problems. I will

know more when I can read the paper, unless someone has it and can send

it me.

& Randy wrote:

>

>

> She is right. My son is one of those that they are retesting down at

> Baylor in Houston. My son has the triangle in both ears and looks like a

> child will CHARGE.

> I would not dismiss it all together!

>

> , Randy & Garland (5) Goodwin

[Guest guest]

Ian, for the people with CHARGE that test positive for the gene, they are also

'out of the blue'. This de nova expression of the gene is what is commonly

found. In other words the other family members often don't have it either, just

as is the case in your family. So, the DNA expert's reason for expecting that it

wouldn't be found don't necessarily jive with what is being found.

I'm sure that Meg and other experts will add more details. There are some

explanations in the archives that you may find of interest. Many people have

commented on this topic including, (but not limited to), W., Tim

Hartshorne, and Meg Hefner, the Genetics Counselor associated with CHARGE.

Mom to Kendra, 20 with CHARGE, , 26, and Camille, 28

Re: Genetic testing and its results - CHD-7

We have requested that they do this test for Cai, we were told it will

take a few months to get the results and its one thing the insurance

wont pay for, the DNA expert also said he didn't think they would find

the gene as Cai has come out of the blue, i.e there is nothing similar

to Cai in either my family or my wifes family , he also promised to send

us the article on this gene but haven't seen it yet.

The bit he did tell us was he thought it was only active in the first 30

days of life as it was something to do with packaging the genes for the

main organs, hence people with charge having multiple problems. I will

know more when I can read the paper, unless someone has it and can send

it me.

& Randy wrote:

>

>

> She is right. My son is one of those that they are retesting down at

> Baylor in Houston. My son has the triangle in both ears and looks like a

> child will CHARGE.

> I would not dismiss it all together!

>

> , Randy & Garland (5) Goodwin

[Guest guest]

Ian-

Are you saying that they don't expect to see a change in the CHD7

gene because Cai is older than 1 month? Sorry to jump in so

confused... :-)

Janay

Rasha's mom

> >

> >

> > She is right. My son is one of those that they are retesting

down at

> > Baylor in Houston. My son has the triangle in both ears and

looks like a

> > child will CHARGE.

> > I would not dismiss it all together!

> >

> > , Randy & Garland (5) Goodwin

>

[Guest guest]

They can also miss the gene too! Some people have been retested after not

finding the gene and come back positive!

Also just because someone doesnt have the gene doenst mean they dont have

CHARGE

[Guest guest]

Ian-

The testing is not perfect. Not only is it likely that there is more than

one gene that can be involved, but we aren't sure that our testing is 100%

perfect in finding the mutations. Technology is changing rapidly so things

can be expected to improve swiftly. For now, a negative test does not at

all mean a negative diagnosis. But a positive test does clinch a positive

diagnosis.

As I understand it, CHD-7 is what is called a regulatory gene. That means

it tells all the other genes what to go and do as the embryo is developing.

So virtually every bodily and sensory system can develop with wrong or

incomplete instructions. I believe this occurs very early in embryologic

development - which may be where the first 30 days thing comes from. But

once those instructions are given, they are there forever.

Also - this is usually a random mutation that occurs in either the egg or

the sperm and then effects the embryo. Gee-I guess that explains why it

occurs so early - it's there from the start! Now, a person with CHARGE

would have that mutation in every one of their sperm or eggs, giving their

children a 50/50 chance of having CHARGE. Since we don't know how mild the

mildest end of the CHARGE spectrum is, it's possible that there are parents

out there with incredibly mild CHARGE who then have children who are more

significantly affected. That is one of the reasons the gene identification

is so exciting. It allows us the possibility of diagnosing people with very

mild CHARGE - who might otherwise go undiagnosed because they don't meet all

of the clinical features.

I hope this is helpful and not more confusing. I think you can find

information about the gene findings in the CHARGE Foundation newsletter

archives and in the articles linked from the Foundation website. Have you

looked through all of that yet?

Michele W

Aubrie's mom

_____

From: CHARGE [mailto:CHARGE ] On Behalf Of

swisspace

Sent: Sunday, December 10, 2006 3:01 PM

To: CHARGE

Subject: Re: Genetic testing and its results - CHD-7

We have requested that they do this test for Cai, we were told it will

take a few months to get the results and its one thing the insurance

wont pay for, the DNA expert also said he didn't think they would find

the gene as Cai has come out of the blue, i.e there is nothing similar

to Cai in either my family or my wifes family , he also promised to send

us the article on this gene but haven't seen it yet.

The bit he did tell us was he thought it was only active in the first 30

days of life as it was something to do with packaging the genes for the

main organs, hence people with charge having multiple problems. I will

know more when I can read the paper, unless someone has it and can send

it me.

& Randy wrote:

>

>

> She is right. My son is one of those that they are retesting down at

> Baylor in Houston. My son has the triangle in both ears and looks like a

> child will CHARGE.

> I would not dismiss it all together!

>

> , Randy & Garland (5) Goodwin

[Guest guest]

Meg and others, FYI - we never had the CHD 7 test, however, when was

born, 11 years ago, the test was not available. they did however, do a test

to see she had a deletion of chrom. 22. and she has al the features.

Also, i want to point out that has all the features - and we went to

the CHARGE conference, it was a little upsetting to see that was one of

the few that was not walking and unable to sign or speak. However, I will

also say that was very, very sick as a baby, she has had 37 operations,

and arrested 2x. So for her to be where she is is a hudge milestone. It is

hard to see other CHARGE'rs and compare. But they are all special. It is

also interesting to see the similiarties! Miami was our first conference, as

Meg pointed out, traveling in the early years was more difficult, trach, vent,

O2, feeding pumps, suciton machines, yada, yada! We have over the years

eliminated some things, no more trach! And we have learned to travel. It has

taken us a while.

We even took to Antigua last year!

Just thought I would pass on my 2 cents!

CAthie, mom to 11 yr

[Guest guest]

Ian,

As usual, Michele explained a bunch of things very well. In yoru

case, the only thing I would add it, based on his photos, there is no

question at all that Cai has CHARGE. You don't need the CHD7 test to

prove it. Many families still want CHD7 testing because it can

provide information for the future: if a CHD7 mutaiton is identified,

it is possible to have prenatal diagnosis to determine if another baby

has CHARGE. The recurence risk for parents of a child with CHARGE is

only about 1%, so usually prenatal diagnosis is to rule out CHARGE,

but that reassurance can be a really big relief for parents.

Meg

Meg Hefner MS

Genetic Counselor

St. Louis MO

> >

> >

> > She is right. My son is one of those that they are retesting down at

> > Baylor in Houston. My son has the triangle in both ears and looks

like a

> > child will CHARGE.

> > I would not dismiss it all together!

> >

> > , Randy & Garland (5) Goodwin

>

>

>

>

>

>

[Guest guest]

Cindy,

I dont' remember meeting you in Miami. Did you have a chance to chat

with any of the professionals who were there about whether or not we

thought Nettie fit into CHARGE? Certainly " on paper " she has many

features of CHARGE (what is her visual problem? Coloboma or something

else?). You mention that Nettie seems to be more challenged than many

of the kids you saw in Miami. Please remember that parents may be less

likely to bring a child with more issues to conference - logisticaly

it's just too hard sometimes. Did you think she looks like the other

children who were there? I have lots of other questions for you and

I'd love to see a photo of Nettie.

I'd be happy to continue this conversation off list if you like. You

can reach me at hefnerma@... or meg@... (meg at

chargesyndrome dot org)

Meg Hefner MS

Genetic Counselor

St. Louis MO

>

> Hello group members,

> I have been on the listserv for approximately 4 years as my youngest

> daughter Nettie Faith was born with bilateral choanal atresia, is

> deaf (wears a cochlear implant), visually challenged, severe

> hypotonia, g-tube reliant, significant respiratory issues, anal

> anomoly (surgically corrected as well), developmentally delayed,

> born with a unilateral polydactly / syndactly, duplicating

> collecting system etc. We, along with Geneticists suspsected Nettie

> had CHARGE and we attended the CHARGE conference in Florida where we

> learned about the CHD-7 gene. During the conference, that both my

> husband ph and I attended with Nettie, we noticed that Nettie

> seemed to have been more severely physically and cognitively

> challenged than some of the other children. We had already done a

> lot of genetic testing that did not show anything, all chromosomes

> etc. looked normal. After hearing about the CHD-7, we decided to

> have this testing done, and we received the results whioh showed

> that Nettie actually does not have CHARGE based upon the CHD-7

> testing, in conjunction with the prior testing. We are still

> searching for the association / syndrome that Nettie may fall into.

> Just thought I would share this with the group. Feel free to pass

> this on to the Genetic presenters at the Florida conference as I do

> not have their contact information. To reach me directly, kindly

> email to me at cbbalsam@...

> Thank you and kind wishes,

> Cindy - Mother of 4 children, our youngest Nettie has multiple

> medical and developmental challenges

>

[Guest guest]

Cindi & Ian

I would like to emphasis one point that has been touched but not emphasised.

It is something that Kirk said again (like Meg) at our recent CHARGE

family day in London when talking about his results from the UK and Canada.

Both your children have been diagnosed with CHARGE in accordance with the

current diagnostic criteria, therefore they have CHARGE. The gene test is

something that is in addition to this, therefore it is irrelevant whether

they test positive for the CHD7 mutation. Indeed I understand that with the

UK results there is no correlation with the degree a person is affected by

CHARGE and the incidence of the mutation.

Simon

[Guest guest]

I can see I will have to do some more digging around on this subject

when I have the time. But are we saying that whether the CHD-7 gene is

found or not it doesn't affect the odds of other children from the same

parents having another charge child and also what are the risks of our

other children having charge children.

Ian

[Guest guest]

basicly some it is and some it istn

>

> I can see I will have to do some more digging around on this subject

> when I have the time. But are we saying that whether the CHD-7 gene is

> found or not it doesn't affect the odds of other children from the same

> parents having another charge child and also what are the risks of our

> other children having charge children.

>

> Ian

>

>

>

[Guest guest]

Ian

You are effectively correct in your first assumption. The risk element

quoted by geneticists is I understand the same as the for rest of the

general population. Regarding siblings because the mutation is a de novo

mutation there is no more chance for them than anyone else having a child

with CHARGE. If a parent has the mutation there is a 50% chance of it being

passed on therefore if you and your wife/partner do not have the mutation a

sibling does not. If I am wrong Meg will correct me! I have certainly not

heard of any siblings having a child with CHARGE. There are only a few

families where there is more than child with CHARGE. In the UK the one

family that does the mother has tested positive for the gene mutation as

well as 2 children. A third child does not have CHARGE.

Although I am no expert I have had to explain this gene stuff to quite a

number of parents here in the UK so if you want to chat feel free to ring me

(you have my telephone number).

Simon

[Guest guest]

Can you carry the CHARGE gene without having any of the clinical features? I was

told it was a waste of money/time/effort to test my husband and I because they

found

Zoey's change and in order for us to carry that change we MUST have some

clinical features- This whole thing is still SO confusing! LOL!

~, Mama to Zoey Faith,( April 25th- July 31st 2006), CHargE~

swisspace wrote:

I can see I will have to do some more digging around on this subject

when I have the time. But are we saying that whether the CHD-7 gene is

found or not it doesn't affect the odds of other children from the same

parents having another charge child and also what are the risks of our

other children having charge children.

Ian

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

Any questions? Get answers on any topic at Yahoo! Answers. Try it now.

[Guest guest]

is on this list along with her husband were tested following their son

's positive result to make sure it was not a mosaicism (I cannot recall

what this is precisely). Mind you they had a geneticist who was determined

not to diagnose with CHARGE.

Here in the UK I know that the mother who has the mutation along with 2 of

her 3 children has a mild hearing loss and a heart murmur but nothing else.

The heart murmur has not needed to be operated on and she does not wear

hearing aids.

Simon

[Guest guest]

Simon-

Our geneticist stated that if we were to have another child with CHARGE it

would have to me mosaicism- Which is in the tissue that makes the sperm or the

egg. I was told this is not testable- because they cannot test every egg and

every sperm- therefore one egg could be normal- and the next carry the CHARGE

gene. I may have misunderstood...

simon howard wrote:

is on this list along with her husband were tested following their son

's positive result to make sure it was not a mosaicism (I cannot recall

what this is precisely). Mind you they had a geneticist who was determined

not to diagnose with CHARGE.

Here in the UK I know that the mother who has the mutation along with 2 of

her 3 children has a mild hearing loss and a heart murmur but nothing else.

The heart murmur has not needed to be operated on and she does not wear

hearing aids.

Simon

[Guest guest]

I don't think you misunderstood, thanks for reminding me

Simon