Re: Diagnosis frsutrations continue

January 30, 2006

is,

I'm so sorry this is STILL going on. DOES have CHARGE, no

matter what the CHD7 testing shows. I hope teh test confimrs it (your

geneticst needs it!!), but WE all know it's CHARGE! Anyway, a few

comments from me (*):

> Anyway, our UK " genetist from hell " called today to say that they

" MAY " have found a mutation, but boy was the emphasis on the " MAY " and

the next step is now to test Neil and I so she can clarify if it is a

naturally occuring change in 's gene (which is shared by one of

his parents) or if it is exclusive to him....and therefore a disease

causing gene change. I had to drag it out of her that if he is the

only one with the change then it is definitely Charge.

*If the mutation found is " missense " - that is just substitutes one

DNA residue (A,T,G,C, if you remember your high school genetics) for

another, the responsible thing to do is to test the parents for the

same change. At least one " missense " mutation has been found (in a

child who does NOT have typical clinical CHARGE) that was also found

in her perfectly healthy father. That particular mutaion did not ause

CHARGE. In your case, since we know has CHARGE, the mutaiton

they ofund is probably real.

> Surely this change in the gene has cannot just be

coincidence..........? Not given all the symptoms he has.....?

*Probably not, but it IS important to check the parents. Be patient a

little longer.

> Now we face another wait of ....who knows...how long?? She said

these tests will be quicker as Holland will know exactly what they are

looking for in our blood as they have the specific result from

to inform the test.

* very true - they only have to look at that one point in the DNA, not

the whole gene. It should be quick, try to be patient. Then we all

hope you can say " I told you so. "

> I am so gutted that this wasn't all clarified today.

>

> Will ever get this DX....?? I am so frustrated. It seems like

a never ending battle ....more hoops to jump thro......just to get to

stage one - the diagnosis.

> is (Mum to )

Let me know if you have more questions!

Meg

Meg Hefner MS

Genetic Counselor

St. Louis MO

January 30, 2006

is,

If it is any reassurance I think it is common that they test the parents to

rule out that gene mutation, but I agree it is not common to not even admit

that having CHARGE is very likely.

I am simply glad you sent the blood sample to the Netherlands, because their

success of picking up the mutation on kids who meet the diagnostic criteria

is very good. What if you had sent it elsewhere and they had said they

found nothing, but you could have it tested elsewhere? Even worse.

It is also true that they don't have to test the full gene on you and your

husband, so it is much faster! I don't know what the wait time is until

they test it though.

I also agree that having a diagnosis is step one, it gives you a path of

knowledge to follow and learn from instead of the path of the great unknown.

Kim

> Hi all,

>

> Most for you know my frustrations in trying to get JAcob diagnosed with

> Charge. We have known it was Charge since he was about 2 weeks old, but the

> geneticist refused to permit that dx and insisted for 2 yrs that it was not

> Charge.

> We finally got our geneticist to send his DNA to Holland last May for the

> CHD7 testing, although she was still adamant that he didn't have a charge

> Ear and wasn't delayed enough developmentally to fit a Charge dx.

>

> Anyway after 7 months, word came first informally from Conny in Holland

> about 10 days ago, that they seem to have found a small mutation and she

> would send the results soon. So since then I have been celebrating and

> waiting for the glorious moment we would finally be admitted officially into

> CHARGEworld and also looking forward to our geneticist having to admit she

> made a mistake. I had all sorts of scenerios in my head, like asking her

> why it took her 2 and a half yrs to confirm what we suspected at 1 week, and

> why she refused to listen not only to us, his parents but also

> ignored emails we had from Meg at the Foundation also backing up our view

> after she had looked at digital photos of s ears etc....

>

> Anyway, our UK " genetist from hell " called today to say that they " MAY "

> have found a mutation, but boy was the emphasis on the " MAY " and the next

> step is now to test Neil and I so she can clarify if it is a naturally

> occuring change in 's gene (which is shared by one of his parents) or

> if it is exclusive to him....and therefore a disease causing gene change. I

> had to drag it out of her that if he is the only one with the change then it

> is definitely Charge. She skirted this issue and keep going off into long

> explanations of how genes work. She was very reluctant to say any more, and

> did not even say that the most likely outcome was Charge. Now I have dwelled

> on our conversation all day and I am fuming and fed up.

> Surely this change in the gene has cannot just be

> coincidence..........? Not given all the symptoms he has.....?

>

> Now we face another wait of ....who knows...how long??

> She said these tests will be quicker as Holland will know exactly what they

> are looking for in our blood as they have the specific result from to

> inform the test.

>

> I am so gutted that this wasn't all clarified today.

>

> Will ever get this DX....?? I am so frustrated. It seems like a never

> ending battle ....more hoops to jump thro......just to get to stage one -

> the diagnosis.

>

> is (Mum to )

>

January 30, 2006

Thanks for responding so quickly Meg!!

The geneticist today (UK one) did not mention the type of mutation found.

But I checked back to my email from Conny and it says " we seem to have found

a small missense mutation " . So then according to what you put, our

geneticist is doing the right thing by testing us as well.

Can I check I am understanding this next bit correctly...so, if one of us

(parents) does have the same missense mutation then does that mean we won't

be able to confirm that this mutation is responsible for the symptoms

has?

Fingers crossed we will get this sorted out soon. I know I have to be

patient...I really want it to be official. Plus then I can post 's

piccy to for the Charge Stars Hall of Fame...and you can all see what a

cutie he is!

But I have been holding off as I was scared it would jinx the results!!

Thanks again,

is

>

> is,

> I'm so sorry this is STILL going on. DOES have CHARGE, no

> matter what the CHD7 testing shows. I hope teh test confimrs it (your

> geneticst needs it!!), but WE all know it's CHARGE! Anyway, a few

> comments from me (*):

>

> > Anyway, our UK " genetist from hell " called today to say that they

> " MAY " have found a mutation, but boy was the emphasis on the " MAY " and

> the next step is now to test Neil and I so she can clarify if it is a

> naturally occuring change in 's gene (which is shared by one of

> his parents) or if it is exclusive to him....and therefore a disease

> causing gene change. I had to drag it out of her that if he is the

> only one with the change then it is definitely Charge.

>

> *If the mutation found is " missense " - that is just substitutes one

> DNA residue (A,T,G,C, if you remember your high school genetics) for

> another, the responsible thing to do is to test the parents for the

> same change. At least one " missense " mutation has been found (in a

> child who does NOT have typical clinical CHARGE) that was also found

> in her perfectly healthy father. That particular mutaion did not ause

> CHARGE. In your case, since we know has CHARGE, the mutaiton

> they ofund is probably real.

>

> > Surely this change in the gene has cannot just be

> coincidence..........? Not given all the symptoms he has.....?

>

> *Probably not, but it IS important to check the parents. Be patient a

> little longer.

>

> > Now we face another wait of ....who knows...how long?? She said

> these tests will be quicker as Holland will know exactly what they are

> looking for in our blood as they have the specific result from

> to inform the test.

>

> * very true - they only have to look at that one point in the DNA, not

> the whole gene. It should be quick, try to be patient. Then we all

> hope you can say " I told you so. "

>

> > I am so gutted that this wasn't all clarified today.

> >

> > Will ever get this DX....?? I am so frustrated. It seems like

> a never ending battle ....more hoops to jump thro......just to get to

> stage one - the diagnosis.

> > is (Mum to )

>

> Let me know if you have more questions!

> Meg

>

> Meg Hefner MS

> Genetic Counselor

> St. Louis MO

>

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

> the CHARGE Syndrome Foundation or CHARGE Syndrome Canada.

> 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 - for CHARGE Syndrome Canada

> information and membership, please visit http://www.chargesyndrome.ca or

> email info@... .

> 8th International

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

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

>

January 30, 2006

Thanks Kim. I know there is a bright side under all this...and we will

hopefully soon have the confirmation we need.

It just seems to have been a slow and tough process. Some children just seem

to get the right geneticist who gets it right at the start, whereas we have

had to fight ours the whole way! And she is meant to be on the same team as

her patients....

is

>

> is,

>

> If it is any reassurance I think it is common that they test the parents

> to

> rule out that gene mutation, but I agree it is not common to not even

> admit

> that having CHARGE is very likely.

>

> I am simply glad you sent the blood sample to the Netherlands, because

> their

> success of picking up the mutation on kids who meet the diagnostic

> criteria

> is very good. What if you had sent it elsewhere and they had said they

> found nothing, but you could have it tested elsewhere? Even worse.

>

> It is also true that they don't have to test the full gene on you and your

> husband, so it is much faster! I don't know what the wait time is until

> they test it though.

>

> I also agree that having a diagnosis is step one, it gives you a path of

> knowledge to follow and learn from instead of the path of the great

> unknown.

>

> Kim

>

> > Hi all,

> >

> > Most for you know my frustrations in trying to get JAcob diagnosed with

> > Charge. We have known it was Charge since he was about 2 weeks old, but

> the

> > geneticist refused to permit that dx and insisted for 2 yrs that it was

> not

> > Charge.

> > We finally got our geneticist to send his DNA to Holland last May for

> the

> > CHD7 testing, although she was still adamant that he didn't have a

> charge

> > Ear and wasn't delayed enough developmentally to fit a Charge dx.

> >

> > Anyway after 7 months, word came first informally from Conny in Holland

> > about 10 days ago, that they seem to have found a small mutation and she

> > would send the results soon. So since then I have been celebrating and

> > waiting for the glorious moment we would finally be admitted officially

> into

> > CHARGEworld and also looking forward to our geneticist having to admit

> she

> > made a mistake. I had all sorts of scenerios in my head, like asking

> her

> > why it took her 2 and a half yrs to confirm what we suspected at 1 week,

> and

> > why she refused to listen not only to us, his parents but also

> > ignored emails we had from Meg at the Foundation also backing up our

> view

> > after she had looked at digital photos of s ears etc....

> >

> > Anyway, our UK " genetist from hell " called today to say that they " MAY "

> > have found a mutation, but boy was the emphasis on the " MAY " and the

> next

> > step is now to test Neil and I so she can clarify if it is a naturally

> > occuring change in 's gene (which is shared by one of his parents)

> or

> > if it is exclusive to him....and therefore a disease causing gene

> change. I

> > had to drag it out of her that if he is the only one with the change

> then it

> > is definitely Charge. She skirted this issue and keep going off into

> long

> > explanations of how genes work. She was very reluctant to say any more,

> and

> > did not even say that the most likely outcome was Charge. Now I have

> dwelled

> > on our conversation all day and I am fuming and fed up.

> > Surely this change in the gene has cannot just be

> > coincidence..........? Not given all the symptoms he has.....?

> >

> > Now we face another wait of ....who knows...how long??

> > She said these tests will be quicker as Holland will know exactly what

> they

> > are looking for in our blood as they have the specific result from

> to

> > inform the test.

> >

> > I am so gutted that this wasn't all clarified today.

> >

> > Will ever get this DX....?? I am so frustrated. It seems like a

> never

> > ending battle ....more hoops to jump thro......just to get to stage one

> -

> > the diagnosis.

> >

> > is (Mum to )

> >

January 30, 2006

is:

This will have to be brief, because is unusually busy today.

I'm going to hit your problem in a different way than I've seen others on

the list do. is now 21. The people at the Perkins School for the

Blind I think would swear that she has CHARGE. Two geneticists (not

connected with the Foundation) dispute that. Why? I only know part of the

answer: is " too " tall for a CHARGEr, just as her maternal family is. I,

too, would love an iron-clad diagnosis, but I've found that the behavioral

and medical help from this list is even more valuable. It seems to me that

if has colobomas, a VSD, developmental delays, etc., and that the

only help has come via CHARGE avenues, we've found a home. So, send

your pictures!

I must add that Sandy Davenport is the only geneticist who ever

questioned me about my family's height, etc. does NOT totally look

like the CHARGE kids I knew at Perkins, but it's the best link we have

found for meaningful help.

Martha

January 30, 2006

Well said Martha!

I am 5ft 10 inches in height, tall for a woman, and Amelie is tall

for her age! already, yet underweight because of her feeding

issues, surely some charge children do inherit their height from

parents? What nonsense some people come up with, where do they get

it from, I have read charge children are small but surely not all.

I agreed and is should send s picture in.

Love Lesley x

>

> is:

> This will have to be brief, because is unusually busy

today.

> I'm going to hit your problem in a different way than I've seen

others on

> the list do. is now 21. The people at the Perkins School

for the

> Blind I think would swear that she has CHARGE. Two geneticists

(not

> connected with the Foundation) dispute that. Why? I only know

part of the

> answer: is " too " tall for a CHARGEr, just as her maternal

family is. I,

> too, would love an iron-clad diagnosis, but I've found that the

behavioral

> and medical help from this list is even more valuable. It seems

to me that

> if has colobomas, a VSD, developmental delays, etc., and

that the

> only help has come via CHARGE avenues, we've found a home. So,

send

> your pictures!

> I must add that Sandy Davenport is the only geneticist who ever

> questioned me about my family's height, etc. does NOT

totally look

> like the CHARGE kids I knew at Perkins, but it's the best link we

have

> found for meaningful help.

> Martha

>

January 31, 2006

Martha and Lesley,

You both are so right--sometimes plain old family genetics takes over!! Over

the years we have had several kids with CHARGE who have been quite tall (

is probably the tallest, but I can think of several from my time at Perkins who

were well over 5 feet).

And...we have had some kids who just seem to have their own growth spurts --no

hormone therapy--who also just seem to start to grow. I am only 5 feet tall so

I become very aware when the kids are getting close to my height!!!

pam

January 31, 2006

I've never understood why people think just because someone is " tall " they

can't have CHARGE. It stands to reason that if the other features in CHARGE

can be varied - and in some cases, absent - why not the short/tall aspect?

Seems some folks (yes, even professionals) just can't get past the " But s/he

doesn't have _________ " ; or " It's not that severe of a _____ " . That is the

very problem in managing medical and behavioral issues in CHARGE: What

applies to one individual MAY or MAY NOT apply to another. That's why it's

a spectrum disorder!

Personally, at only 5 ft. 2 inches, everyone looks tall to me. (I'm right

there with you, Pam!) I felt like a few of the young adult/adult CHARGErs

were towering over me at the Miami conference! Or maybe it is just their

strong personality that fills the room!?!

Friends in CHARGE,

Marilyn Ogan

Mom of (13 yrs, CHARGE+ JRA)

Mom of Ken (16 yrs, Asperger's)

Wife of Rick

oganm@...

_____

From: CHARGE [mailto:CHARGE ] On Behalf Of

Lesley Chan

Sent: Monday, January 30, 2006 5:42 PM

To: CHARGE

Subject: Re: Diagnosis frsutrations continue

Well said Martha!

I am 5ft 10 inches in height, tall for a woman, and Amelie is tall

for her age! already, yet underweight because of her feeding

issues, surely some charge children do inherit their height from

parents? What nonsense some people come up with, where do they get

it from, I have read charge children are small but surely not all.

I agreed and is should send s picture in.

Love Lesley x

>

> is:

> This will have to be brief, because is unusually busy

today.

> I'm going to hit your problem in a different way than I've seen

others on

> the list do. is now 21. The people at the Perkins School

for the

> Blind I think would swear that she has CHARGE. Two geneticists

(not

> connected with the Foundation) dispute that. Why? I only know

part of the

> answer: is " too " tall for a CHARGEr, just as her maternal

family is. I,

> too, would love an iron-clad diagnosis, but I've found that the

behavioral

> and medical help from this list is even more valuable. It seems

to me that

> if has colobomas, a VSD, developmental delays, etc., and

that the

> only help has come via CHARGE avenues, we've found a home. So,

send

> your pictures!

> I must add that Sandy Davenport is the only geneticist who ever

> questioned me about my family's height, etc. does NOT

totally look

> like the CHARGE kids I knew at Perkins, but it's the best link we

have

> found for meaningful help.

> Martha

>

January 31, 2006

It will be interesting to see how tall Dylan is as an adult. His Dad is

6'5 " and his brother is 6'4 " . Even with the hormone problems of CHARGE he

could end up taller than other CHARGErs, simply due to how tall he is before

puberty hits.

Kim

> I've never understood why people think just because someone is " tall " they

> can't have CHARGE. It stands to reason that if the other features in CHARGE

> can be varied - and in some cases, absent - why not the short/tall aspect?

> Seems some folks (yes, even professionals) just can't get past the " But s/he

> doesn't have _________ " ; or " It's not that severe of a _____ " . That is the

> very problem in managing medical and behavioral issues in CHARGE: What

> applies to one individual MAY or MAY NOT apply to another. That's why it's

> a spectrum disorder!

>

> Personally, at only 5 ft. 2 inches, everyone looks tall to me. (I'm right

> there with you, Pam!) I felt like a few of the young adult/adult CHARGErs

> were towering over me at the Miami conference! Or maybe it is just their

> strong personality that fills the room!?!

>

> Friends in CHARGE,

>

> Marilyn Ogan

>

> Mom of (13 yrs, CHARGE+ JRA)

>

> Mom of Ken (16 yrs, Asperger's)

>

> Wife of Rick

>

> oganm@...

>

> _____

>

> From: CHARGE [mailto:CHARGE ] On Behalf Of

> Lesley Chan

> Sent: Monday, January 30, 2006 5:42 PM

> To: CHARGE

> Subject: Re: Diagnosis frsutrations continue

>

> Well said Martha!

>

> I am 5ft 10 inches in height, tall for a woman, and Amelie is tall

> for her age! already, yet underweight because of her feeding

> issues, surely some charge children do inherit their height from

> parents? What nonsense some people come up with, where do they get

> it from, I have read charge children are small but surely not all.

>

> I agreed and is should send s picture in.

>

> Love Lesley x

>

>>

>> is:

>> This will have to be brief, because is unusually busy

> today.

>> I'm going to hit your problem in a different way than I've seen

> others on

>> the list do. is now 21. The people at the Perkins School

> for the

>> Blind I think would swear that she has CHARGE. Two geneticists

> (not

>> connected with the Foundation) dispute that. Why? I only know

> part of the

>> answer: is " too " tall for a CHARGEr, just as her maternal

> family is. I,

>> too, would love an iron-clad diagnosis, but I've found that the

> behavioral

>> and medical help from this list is even more valuable. It seems

> to me that

>> if has colobomas, a VSD, developmental delays, etc., and

> that the

>> only help has come via CHARGE avenues, we've found a home. So,

> send

>> your pictures!

>> I must add that Sandy Davenport is the only geneticist who ever

>> questioned me about my family's height, etc. does NOT

> totally look

>> like the CHARGE kids I knew at Perkins, but it's the best link we

> have

>> found for meaningful help.

>> Martha

>>

January 31, 2006

Marilyn,

haha. But you know, all of the adults on the panel actually were taller than

us!! Chip and Belinda only by an inch or so, but the others by more than that!!!

pam

January 31, 2006

The child that I currently work with does not have an official

diagnosis. The geneticist here said he doesn't have CHARGE because

he does not have " enough " symptoms. No genetic testing has been

done, but the genetecist has already ruled it out! The pediatrician

and developmental pediatrician feel that he does have it. He has a

colobloma, nystagmus, cranial nerve involvement, CHARGE ears and a

cleft lip. He is solid in weight for his age, but has very short

arms and legs. While in utero, they thought he had heart and kidney

problems, but nothing has shown yet (he's 8 months old). However,

he is delayed in both gross and fine motor skills. I think his

visual involvements (and ? vestibular) have contributed to this.

However, since the doctors have told the parents that he doesn't

have CHARGE, they think he doesn't really need any help. They have

been advised to contact EI, but have not yet, since they think his

only problem is the cleft lip, which has been repaired. While I

know these parents could use the help, I cannot take these steps for

them. However, since the doctors originally thought that he would

be a lot more involved, the parents think that he needs no help

now. Its very hard to sit and watch, knowing that so much more

needs to be done, but that the parents are not getting the

information that they need.

I want to assure all of you that I am not pushing the parents, just

venting my frustrations at the doctors for not providing the support

that this family desperately needs!

Kate (PT to a CHARGEr)

> >

> > is:

> > This will have to be brief, because is unusually busy

> today.

> > I'm going to hit your problem in a different way than I've

seen

> others on

> > the list do. is now 21. The people at the Perkins School

> for the

> > Blind I think would swear that she has CHARGE. Two geneticists

> (not

> > connected with the Foundation) dispute that. Why? I only know

> part of the

> > answer: is " too " tall for a CHARGEr, just as her maternal

> family is. I,

> > too, would love an iron-clad diagnosis, but I've found that the

> behavioral

> > and medical help from this list is even more valuable. It seems

> to me that

> > if has colobomas, a VSD, developmental delays, etc., and

> that the

> > only help has come via CHARGE avenues, we've found a home. So,

> send

> > your pictures!

> > I must add that Sandy Davenport is the only geneticist who

ever

> > questioned me about my family's height, etc. does NOT

> totally look

> > like the CHARGE kids I knew at Perkins, but it's the best link

we

> have

> > found for meaningful help.

> > Martha

> >

January 31, 2006

i agree with you all i dont have a genetci test but i knwo im charge and if

anyone said other wise id sock them big time to me its charge LOL ellen

>

> The child that I currently work with does not have an official

> diagnosis. The geneticist here said he doesn't have CHARGE because

> he does not have " enough " symptoms. No genetic testing has been

> done, but the genetecist has already ruled it out! The pediatrician

> and developmental pediatrician feel that he does have it. He has a

> colobloma, nystagmus, cranial nerve involvement, CHARGE ears and a

> cleft lip. He is solid in weight for his age, but has very short

> arms and legs. While in utero, they thought he had heart and kidney

> problems, but nothing has shown yet (he's 8 months old). However,

> he is delayed in both gross and fine motor skills. I think his

> visual involvements (and ? vestibular) have contributed to this.

> However, since the doctors have told the parents that he doesn't

> have CHARGE, they think he doesn't really need any help. They have

> been advised to contact EI, but have not yet, since they think his

> only problem is the cleft lip, which has been repaired. While I

> know these parents could use the help, I cannot take these steps for

> them. However, since the doctors originally thought that he would

> be a lot more involved, the parents think that he needs no help

> now. Its very hard to sit and watch, knowing that so much more

> needs to be done, but that the parents are not getting the

> information that they need.

>

> I want to assure all of you that I am not pushing the parents, just

> venting my frustrations at the doctors for not providing the support

> that this family desperately needs!

>

> Kate (PT to a CHARGEr)

>

> > >

> > > is:

> > > This will have to be brief, because is unusually busy

> > today.

> > > I'm going to hit your problem in a different way than I've

> seen

> > others on

> > > the list do. is now 21. The people at the Perkins School

> > for the

> > > Blind I think would swear that she has CHARGE. Two geneticists

> > (not

> > > connected with the Foundation) dispute that. Why? I only know

> > part of the

> > > answer: is " too " tall for a CHARGEr, just as her maternal

> > family is. I,

> > > too, would love an iron-clad diagnosis, but I've found that the

> > behavioral

> > > and medical help from this list is even more valuable. It seems

> > to me that

> > > if has colobomas, a VSD, developmental delays, etc., and

> > that the

> > > only help has come via CHARGE avenues, we've found a home. So,

> > send

> > > your pictures!

> > > I must add that Sandy Davenport is the only geneticist who

> ever

> > > questioned me about my family's height, etc. does NOT

> > totally look

> > > like the CHARGE kids I knew at Perkins, but it's the best link

> we

> > have

> > > found for meaningful help.

> > > Martha

> > >

January 31, 2006

Hello.

ALL CHARGE individuals will not be short. It depends on what growth

issues they face. My Mark is about 5' 7 " . Mind you my daughter is 5'8 " And my

husband 6'2 " .

January 31, 2006

is,

yes, you have it exactly right - if one of you carries the same

missense mutation as , you will not be able to confirm that as

the cause of his CHARGE syndrome. I'm impressed - I went to school

for many years to be able to understand this stuff. Let us know what

the results show!

Meg

> >

> > is,

> > I'm so sorry this is STILL going on. DOES have CHARGE, no

> > matter what the CHD7 testing shows. I hope teh test confimrs it (your

> > geneticst needs it!!), but WE all know it's CHARGE! Anyway, a few

> > comments from me (*):

> >

> > > Anyway, our UK " genetist from hell " called today to say that they

> > " MAY " have found a mutation, but boy was the emphasis on the " MAY " and

> > the next step is now to test Neil and I so she can clarify if it is a

> > naturally occuring change in 's gene (which is shared by one of

> > his parents) or if it is exclusive to him....and therefore a disease

> > causing gene change. I had to drag it out of her that if he is the

> > only one with the change then it is definitely Charge.

> >

> > *If the mutation found is " missense " - that is just substitutes one

> > DNA residue (A,T,G,C, if you remember your high school genetics) for

> > another, the responsible thing to do is to test the parents for the

> > same change. At least one " missense " mutation has been found (in a

> > child who does NOT have typical clinical CHARGE) that was also found

> > in her perfectly healthy father. That particular mutaion did not ause

> > CHARGE. In your case, since we know has CHARGE, the mutaiton

> > they ofund is probably real.

> >

> > > Surely this change in the gene has cannot just be

> > coincidence..........? Not given all the symptoms he has.....?

> >

> > *Probably not, but it IS important to check the parents. Be patient a

> > little longer.

> >

> > > Now we face another wait of ....who knows...how long?? She said

> > these tests will be quicker as Holland will know exactly what they are

> > looking for in our blood as they have the specific result from

> > to inform the test.

> >

> > * very true - they only have to look at that one point in the DNA, not

> > the whole gene. It should be quick, try to be patient. Then we all

> > hope you can say " I told you so. "

> >

> > > I am so gutted that this wasn't all clarified today.

> > >

> > > Will ever get this DX....?? I am so frustrated. It seems like

> > a never ending battle ....more hoops to jump thro......just to get to

> > stage one - the diagnosis.

> > > is (Mum to )

> >

> > Let me know if you have more questions!

> > Meg

> >

> > Meg Hefner MS

> > Genetic Counselor

> > St. Louis MO

> >

> > Membership of this email support groups does not constitute

membership in

> > the CHARGE Syndrome Foundation or CHARGE Syndrome Canada.

> > For information about the CHARGE Syndrome

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

> > please contact marion@c... or visit

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

Syndrome Canada

> > information and membership, please visit

http://www.chargesyndrome.ca or

> > email info@c... .

> > 8th International

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

available at

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

> >

January 31, 2006

I share your frustrations with not knowing the dx for sure. I was

not always sure if the dx of charge was correct for me till i met

Meg in Toronto a couple years ago. It was i guess peice of mind more

then anything elce. Hopefully the dx will eventialy prove charge for

this person.

Best of luck!

Chantelle (CHARGE)

> > The child that I currently work with does not have an official

> > diagnosis. The geneticist here said he doesn't have CHARGE

because

> > he does not have " enough " symptoms. No genetic testing has been

> > done, but the genetecist has already ruled it out! The

pediatrician

> > and developmental pediatrician feel that he does have it. He

has a

> > colobloma, nystagmus, cranial nerve involvement, CHARGE ears and

a

> > cleft lip. He is solid in weight for his age, but has very short

> > arms and legs. While in utero, they thought he had heart and

kidney

> > problems, but nothing has shown yet (he's 8 months old).

However,

> > he is delayed in both gross and fine motor skills. I think his

> > visual involvements (and ? vestibular) have contributed to this.

> > However, since the doctors have told the parents that he doesn't

> > have CHARGE, they think he doesn't really need any help. They

have

> > been advised to contact EI, but have not yet, since they think

his

> > only problem is the cleft lip, which has been repaired. While I

> > know these parents could use the help, I cannot take these steps

for

> > them. However, since the doctors originally thought that he

would

> > be a lot more involved, the parents think that he needs no help

> > now. Its very hard to sit and watch, knowing that so much more

> > needs to be done, but that the parents are not getting the

> > information that they need.

> >

> > I want to assure all of you that I am not pushing the parents,

just

> > venting my frustrations at the doctors for not providing the

support

> > that this family desperately needs!

> >

> > Kate (PT to a CHARGEr)

> >

> > > >

> > > > is:

> > > > This will have to be brief, because is unusually

busy

> > > today.

> > > > I'm going to hit your problem in a different way than I've

> > seen

> > > others on

> > > > the list do. is now 21. The people at the Perkins

School

> > > for the

> > > > Blind I think would swear that she has CHARGE. Two

geneticists

> > > (not

> > > > connected with the Foundation) dispute that. Why? I only

know

> > > part of the

> > > > answer: is " too " tall for a CHARGEr, just as her

maternal

> > > family is. I,

> > > > too, would love an iron-clad diagnosis, but I've found that

the

> > > behavioral

> > > > and medical help from this list is even more valuable. It

seems

> > > to me that

> > > > if has colobomas, a VSD, developmental delays, etc.,

and

> > > that the

> > > > only help has come via CHARGE avenues, we've found a home.

So,

> > > send

> > > > your pictures!

> > > > I must add that Sandy Davenport is the only geneticist who

> > ever

> > > > questioned me about my family's height, etc. does NOT

> > > totally look

> > > > like the CHARGE kids I knew at Perkins, but it's the best

link

> > we

> > > have

> > > > found for meaningful help.

> > > > Martha

> > > >

February 1, 2006

Kate,

I would write to Meg personally to discuss this with her. Her mail is

hefnerma@....

Bonnie, mom to a 23, Patty CHARGE 21, and wife to

February 1, 2006

Kate,

it sounds to me like the geneticsts are not using current diagnostic

criteria. If this child really has coloboma, cranial nerve invovement

and CHARGE ears, that is 3 Major features and enough (right there,

with nothing else) for a definite diagnosis of CHARGE. Cleft lip is a

Minor feature (its all at the website www.chargesyndrome.org).

Do you know if this child has ever had an MRI of his inner ear? The

vast majority of people with CHARGE have semicircular canal

abnormalities that can be diagnosed that way - it helps confirm a

diagnosis of CHARGE and provides vital (duh, you know this)

information about what therapies may be helpful. You didn't mention

hearing - has that been tested? I mean really tested - BAER, not just

newborn hearing screen. It is the rare child with CHARGE who has

normal hearing in both ears. Kids with one sided hearing loss often

have normal language development, but need specific placement in the

classroom setting to get the most benefit. I don't remember how old

this child is - is any speech happening? In any case, any child with

vision loss needs hearing thoroughly tested, as most individuals with

vision impariment rely extra heavily on hearing.

I realize you have little control over this. It must be terribly

frustrating for you. I'm also on a coloboma listserv (also through

yahoogroups, that's where I met is, 's mom, who is having

diangosis dilemmas of her own) - I wonder if anything the parents say

on there might be helpful, as most of those kids have " only " vison

impairment. As others mentioned, feel free to email me privately -

meg@... - if that might help

Meg

Meg Hefner MS

Genetic Counselor

St. Louis MO

meg@...