Trying to get an answer???

[Guest guest]

How many of you have thought you knew the answer to something your

doctors were trying to figure out? The family I help out has a son

who doesnt have a dignoses yet and they have tested him for 3

different syndromes already with neg results. I desided to look up

somethings for her and found a syndrome and pictures of kids who

look just like the boy I watch. I printed it all up and brought it

over to her house last night and she was surprised I had found what

I found and she said she found the samething and talked to the

doctor about it and he said there is not way he could have that. He

fits this syndrome to a T and this doctor will not test for it, but

yet he tested for things that could never fit including CHARGE. I

just hate that doctors will not listen to her and hear what she has

to say. She is about to take him to see a new geneitics doctor who

is also Eva's genetic doctor so I hope she gets the answer and I

told her to bring it up again with the new doctor and I am sure he

will listen, he is a very sweet man.

I was just wondering how many have told a doctor what you think and

they throw it aside just to find out you were right in the 1st

place??

Also if you have any advice I could give this mom?!

Thanks,

Crystal

[Guest guest]

Crystal,

Weir and I diagnose people from afar all the time. I think most of us just

gain a skill for this. Half of our lives are spent in hospital and/or therapy.

Not to say that a good doctor can't be useful too.lol

Jeanie

[Guest guest]

Jeanie:

And no, our " boy " still has not been diagnosed, but mostly because the

parents don't want a dx. He's textbook though, eh? I would love for Meg to

see him.

--

Weir

Personal Web Site:

http://chargesyndrome.info

The Adventures of Kennedy Blog:

http://chargesyndrome.blogspot.com

Secretary, CHARGE Syndrome Foundation Inc:

http://www.chargesyndrome.org

Email:

lisa@...

" 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]

Two doctors looked at our son (Raphael) and didn't think that he had

CHARGE syndrome. The Geneticist initially said that the closest

syndrome that he could think of was CHARGE syndrome but he initially

didn't think that it fitted quite right.

Only after he had time to study the MRI result was he convinced that

Raphael had CHARGE syndrome. If you have read the US CHARGE syndrome

manual then you can see that there are other syndromes that are

similar to CHARGE so doctors have their work cut out for them in

making an accurate diagnosis.

I also found out that our doctors were sending a lot of emails to each

other and to other specialists about Raphael before we had a diagnosis

in an attempt to work out what was the underlying cause. Maybe it

would be worth asking them if they have spoken to anyone else about

the child.

Another thing to be wary of is that it seems that most doctors call

CHARGE syndrome: CHARGE association. Some of our doctors have baulked

when we have said CHARGE syndrome.

[Guest guest]

i dont think ive ever had iot but ive certainly seen it i no mums cousins

grandkid i no very wierd grandmas fams got a wierd line but thats another

story but i still call sue my cousin mums well anyway HER grandid was sick

and i remember she said she had some thing and the drs didnt think so so she

called soem oter dr who said she was rite LOL does that come form beign in

MY FAM LOL

>

> Two doctors looked at our son (Raphael) and didn't think that he had

> CHARGE syndrome. The Geneticist initially said that the closest

> syndrome that he could think of was CHARGE syndrome but he initially

> didn't think that it fitted quite right.

>

> Only after he had time to study the MRI result was he convinced that

> Raphael had CHARGE syndrome. If you have read the US CHARGE syndrome

> manual then you can see that there are other syndromes that are

> similar to CHARGE so doctors have their work cut out for them in

> making an accurate diagnosis.

>

> I also found out that our doctors were sending a lot of emails to each

> other and to other specialists about Raphael before we had a diagnosis

> in an attempt to work out what was the underlying cause. Maybe it

> would be worth asking them if they have spoken to anyone else about

> the child.

>

> Another thing to be wary of is that it seems that most doctors call

> CHARGE syndrome: CHARGE association. Some of our doctors have baulked

> when we have said CHARGE syndrome.

>

>

>

--

stand up and speak up!!!!!!! and dont let the world hold you back just go

for it

[Guest guest]

,

You can tell them to stop balking! CHARGE is indeed a syndrome because of

the gene identification in 2004 in the Netherlands. From what I've learned,

an association is recognizable pattern of defects without a definitive

cause. When there is a genetic finding, such as the one made in

Netherlands, the " association " can be definitively identified as a

" syndrome " . The docs calling it association have not likely read the most

up-to-date material. If they want to educate themselves, the article was

published in Nature Genetics; here is the reference:

Vissers, L. E., van Ravenswaaij, C. M., Admiraal, R., Hurst, J. A., de

Vries, B. B., Janssen, I. M., et al. (2004). Mutations in a new member of

the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36, 955

- 957.

Also, there is information on the www.chargesyndrome.org web site regarding

this. Here is a short blurb from the " About CHARGE " page:

*

>

> What causes CHARGE syndrome?

>

> CHARGE syndrome is a genetic condition, caused by a change (mutation) in a

> single gene, most often CHD7. In August, 2004, the first major gene for

> CHARGE syndrome was reported by a group of researchers in the Netherlands.

> The gene is CHD7, located on the long arm of chromosome #8. It is a

> regulatory gene which plays a role in turning other genes on and off.

> Changes (mutations) in this gene have been found in more than half of all

> children with CHARGE tested to date. In the vast majority, the mutation was

> new in the child - not detected in the parents. This confirms that CHARGE

> syndrome is a genetic condition caused by a new mutation in a dominant gene.

> Further research is needed to find other genes that can cause CHARGE and to

> determine the function of the CHARGE genes in the developing fetus, babies,

> children and adults.

>

*Hope this is helpful ,

--

Weir

Personal Web Site:

http://chargesyndrome.info

The Adventures of Kennedy Blog:

http://chargesyndrome.blogspot.com

Secretary, CHARGE Syndrome Foundation Inc:

http://www.chargesyndrome.org

Email:

lisa@...

" 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]

lis hasnt the name been formaly changed from assoiciation to syndrome over

in the us here it is sitll known aboth

>

> ,

> You can tell them to stop balking! CHARGE is indeed a syndrome because of

> the gene identification in 2004 in the Netherlands. From what I've

> learned,

> an association is recognizable pattern of defects without a definitive

> cause. When there is a genetic finding, such as the one made in

> Netherlands, the " association " can be definitively identified as a

> " syndrome " . The docs calling it association have not likely read the most

> up-to-date material. If they want to educate themselves, the article was

> published in Nature Genetics; here is the reference:

> Vissers, L. E., van Ravenswaaij, C. M., Admiraal, R., Hurst, J. A., de

> Vries, B. B., Janssen, I. M., et al. (2004). Mutations in a new member of

> the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36,

> 955

> - 957.

>

> Also, there is information on the www.chargesyndrome.org web site

> regarding

> this. Here is a short blurb from the " About CHARGE " page:

> *

> >

> > What causes CHARGE syndrome?

> >

> > CHARGE syndrome is a genetic condition, caused by a change (mutation) in

> a

> > single gene, most often CHD7. In August, 2004, the first major gene for

> > CHARGE syndrome was reported by a group of researchers in the

> Netherlands.

> > The gene is CHD7, located on the long arm of chromosome #8. It is a

> > regulatory gene which plays a role in turning other genes on and off.

> > Changes (mutations) in this gene have been found in more than half of

> all

> > children with CHARGE tested to date. In the vast majority, the mutation

> was

> > new in the child - not detected in the parents. This confirms that

> CHARGE

> > syndrome is a genetic condition caused by a new mutation in a dominant

> gene.

> > Further research is needed to find other genes that can cause CHARGE and

> to

> > determine the function of the CHARGE genes in the developing fetus,

> babies,

> > children and adults.

> >

> *Hope this is helpful ,

> --

> Weir

>

> Personal Web Site:

> http://chargesyndrome.info

>

> The Adventures of Kennedy Blog:

> http://chargesyndrome.blogspot.com

>

> Secretary, CHARGE Syndrome Foundation Inc:

> http://www.chargesyndrome.org

>

> Email:

> lisa@...

>

> " 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]

It's offiicially a syndrome everywhere now that the genetic finding has been

made. The question is just a matter of people getting up to date in their

countries with the latest info.

Lis

>

> lis hasnt the name been formaly changed from assoiciation to syndrome

> over

> in the us here it is sitll known aboth

>

>

> >

> > ,

> > You can tell them to stop balking! CHARGE is indeed a syndrome because

> of

> > the gene identification in 2004 in the Netherlands. From what I've

> > learned,

> > an association is recognizable pattern of defects without a definitive

> > cause. When there is a genetic finding, such as the one made in

> > Netherlands, the " association " can be definitively identified as a

> > " syndrome " . The docs calling it association have not likely read the

> most

> > up-to-date material. If they want to educate themselves, the article was

> > published in Nature Genetics; here is the reference:

> > Vissers, L. E., van Ravenswaaij, C. M., Admiraal, R., Hurst, J. A., de

> > Vries, B. B., Janssen, I. M., et al. (2004). Mutations in a new member

> of

> > the chromodomain gene family cause CHARGE syndrome. Nature Genetics, 36,

> > 955

> > - 957.

> >

> > Also, there is information on the www.chargesyndrome.org web site

> > regarding

> > this. Here is a short blurb from the " About CHARGE " page:

> > *

> > >

> > > What causes CHARGE syndrome?

> > >

> > > CHARGE syndrome is a genetic condition, caused by a change (mutation)

> in

> > a

> > > single gene, most often CHD7. In August, 2004, the first major gene

> for

> > > CHARGE syndrome was reported by a group of researchers in the

> > Netherlands.

> > > The gene is CHD7, located on the long arm of chromosome #8. It is a

> > > regulatory gene which plays a role in turning other genes on and off.

> > > Changes (mutations) in this gene have been found in more than half of

> > all

> > > children with CHARGE tested to date. In the vast majority, the

> mutation

> > was

> > > new in the child - not detected in the parents. This confirms that

> > CHARGE

> > > syndrome is a genetic condition caused by a new mutation in a dominant

> > gene.

> > > Further research is needed to find other genes that can cause CHARGE

> and

> > to

> > > determine the function of the CHARGE genes in the developing fetus,

> > babies,

> > > children and adults.

> > >

> > *Hope this is helpful ,

> > --

> > Weir

> >

> > Personal Web Site:

> > http://chargesyndrome.info

> >

> > The Adventures of Kennedy Blog:

> > http://chargesyndrome.blogspot.com

> >

> > Secretary, CHARGE Syndrome Foundation Inc:

> > http://www.chargesyndrome.org

> >

> > Email:

> > lisa@...

ome.org>

> >

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

> in

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

> >

> >