Australasian CHARGE conference

[Guest guest]

Hi everyone,

Yesterday I returned home from Australia where I have had a very

special experience at the CHARGE conference. I really felt embraced

there (I do not know whether this is the right expression to express

my feelings, but I can asure you that there were many hugs,

emotions, nice words, tears and laughters). It started with singing

of the national anthem (out of respect I kept my mouth shut) and

ended with many hugs and see you agains.

I have learned a lot thanks to excellent presentations of Sharon,

Tim, Rob, and (I will never forget why CHARGErs tiptoe).

I also have learned a lot thanks to all the parents who were so

brave to talk about there worries and who were so open to share

their experiences with me. I really hope that I have been able to

answer all there questions sufficiently.

I learned most from the kids. When all the parents were busy at the

workshops on sunday, I enjoyed watching and playing with their

children in the daycare. Ellen, you were amazing! According to me,

the conference could not have ended in a better way. You have filled

many hearts with hope.

Last but not least I want to apologize for my presence at the

fathers workshop. For some reason I am always very interested in

what is going on in the heads of fathers. Most of the time it is

mother who is most engaged in the care of the CHARGE child (I know

that there are exceptions) and most attention of proffesionals go to

the mothers, while fathers must have their own worries and

anxieties. Mums, thought, are better talkers. I bet there are male

members of this list, but most e-mails are send by females.

I also want to apologize for joking about the CHD7 mutations

ocurring in sperm cells. Please do remember that it is not your but

nature's fault. Nature is not perfect and we have got to accept

that, albeit hard of course.

I realize that my presentation was not an easy one. If you still

have questions, please do not hesitate to contact me.

For all of you who wonders: No, I do not have a jet lag.

warm greetings,

Conny

[Guest guest]

Hi Conny

There are some fathers on the listserve. The joke about the CHD7 mutation

being in the sperm cells I think will have not been picked up by us on the

listserve - unless you have new information I assume you were having a joke

at the expense of those of us who belong to the male species!

I am glad you enjoyed the Australasian conference, you do come away with a

buzz from them - the French one a coupe of weeks earlier left me a little

like that. You also sound a little like Brown when talking about the

kids. Is your presentation available to those of us who could not attend the

conference?

Regards

Simon

>

>Reply-To: CHARGE

>To: CHARGE

>Subject: Australasian CHARGE conference

>Date: Fri, 08 Oct 2004 12:14:33 -0000

>

>

>Hi everyone,

>

>Yesterday I returned home from Australia where I have had a very

>special experience at the CHARGE conference. I really felt embraced

>there (I do not know whether this is the right expression to express

>my feelings, but I can asure you that there were many hugs,

>emotions, nice words, tears and laughters). It started with singing

>of the national anthem (out of respect I kept my mouth shut) and

>ended with many hugs and see you agains.

>I have learned a lot thanks to excellent presentations of Sharon,

>Tim, Rob, and (I will never forget why CHARGErs tiptoe).

>I also have learned a lot thanks to all the parents who were so

>brave to talk about there worries and who were so open to share

>their experiences with me. I really hope that I have been able to

>answer all there questions sufficiently.

>I learned most from the kids. When all the parents were busy at the

>workshops on sunday, I enjoyed watching and playing with their

>children in the daycare. Ellen, you were amazing! According to me,

>the conference could not have ended in a better way. You have filled

>many hearts with hope.

>Last but not least I want to apologize for my presence at the

>fathers workshop. For some reason I am always very interested in

>what is going on in the heads of fathers. Most of the time it is

>mother who is most engaged in the care of the CHARGE child (I know

>that there are exceptions) and most attention of proffesionals go to

>the mothers, while fathers must have their own worries and

>anxieties. Mums, thought, are better talkers. I bet there are male

>members of this list, but most e-mails are send by females.

>I also want to apologize for joking about the CHD7 mutations

>ocurring in sperm cells. Please do remember that it is not your but

>nature's fault. Nature is not perfect and we have got to accept

>that, albeit hard of course.

>I realize that my presentation was not an easy one. If you still

>have questions, please do not hesitate to contact me.

>

>For all of you who wonders: No, I do not have a jet lag.

>

>warm greetings,

>Conny

>

>

>

>

[Guest guest]

> There are some fathers on the listserve. The joke about the CHD7

mutation

> being in the sperm cells I think will have not been picked up by

us on the

> listserve - unless you have new information I assume you were

having a joke

> at the expense of those of us who belong to the male species!

Oops, now I have got to explain something otherwise you all will

think I am a tough feminist!

At the Australasian meeting I explained that all CHD7 mutations

causing CHARGE syndrome were new mutations (not present in the

parents) and are most likely to occur in sperm. The reason for this

is that sperm is very actively dividing. Dividing cells have to copy

their DNA and during this copying alterations (mutations) may occur.

Most alterations are corrected by the cell but sometimes the

cell " forgets " to correct such an alteration. Egg cells are not

dividing at all. They are just waiting till ovulation and make than

one finale division. If they have to wait a long time (thus when

women get older) this last division is more prone to mistakes and

thus the risk for Down syndrome increaes with maternal age. If men

get older there sperm has undergone more divisions and thus is more

likely to contain small copying errors (DNA mutations). I kind of

joked at the conference that men and women now were even: an

inreased risk for Down syndrome in older women and an increased risk

for new DNA mutations like the CHD7 mutations causing CHARGE

syndrome when men get older. However, the paternal age effect for

CHARGE syndrome is far less than then the maternal age effect for

Down syndrome.

And Simon, yes I know there are fathers on this list. And their

messages are taken very seriously!

greetings,

Conny

clinical geneticist from Nijmegen, Holland

[Guest guest]

Conny

Many thanks.

Its an interesting observation you made since I am an 'older' father,

equally most father's I have met who have children with CHARGE are quite a

bit younger than me (or were when their wife/partner gave birth).

was born when I was 38.

Regards

Simon

>

>Reply-To: CHARGE

>To: CHARGE

>Subject: Re: Australasian CHARGE conference

>Date: Fri, 08 Oct 2004 21:17:33 -0000

>

>

>

> > There are some fathers on the listserve. The joke about the CHD7

>mutation

> > being in the sperm cells I think will have not been picked up by

>us on the

> > listserve - unless you have new information I assume you were

>having a joke

> > at the expense of those of us who belong to the male species!

>

>Oops, now I have got to explain something otherwise you all will

>think I am a tough feminist!

>At the Australasian meeting I explained that all CHD7 mutations

>causing CHARGE syndrome were new mutations (not present in the

>parents) and are most likely to occur in sperm. The reason for this

>is that sperm is very actively dividing. Dividing cells have to copy

>their DNA and during this copying alterations (mutations) may occur.

>Most alterations are corrected by the cell but sometimes the

>cell " forgets " to correct such an alteration. Egg cells are not

>dividing at all. They are just waiting till ovulation and make than

>one finale division. If they have to wait a long time (thus when

>women get older) this last division is more prone to mistakes and

>thus the risk for Down syndrome increaes with maternal age. If men

>get older there sperm has undergone more divisions and thus is more

>likely to contain small copying errors (DNA mutations). I kind of

>joked at the conference that men and women now were even: an

>inreased risk for Down syndrome in older women and an increased risk

>for new DNA mutations like the CHD7 mutations causing CHARGE

>syndrome when men get older. However, the paternal age effect for

>CHARGE syndrome is far less than then the maternal age effect for

>Down syndrome.

>

>And Simon, yes I know there are fathers on this list. And their

>messages are taken very seriously!

>

>greetings,

>

>Conny

>clinical geneticist from Nijmegen, Holland

>

>

>

[Guest guest]

conny i think you did a good job

Belinda

Australasian CHARGE conference

>

>

> Hi everyone,

>

> Yesterday I returned home from Australia where I have had a very

> special experience at the CHARGE conference. I really felt embraced

> there (I do not know whether this is the right expression to express

> my feelings, but I can asure you that there were many hugs,

> emotions, nice words, tears and laughters). It started with singing

> of the national anthem (out of respect I kept my mouth shut) and

> ended with many hugs and see you agains.

> I have learned a lot thanks to excellent presentations of Sharon,

> Tim, Rob, and (I will never forget why CHARGErs tiptoe).

> I also have learned a lot thanks to all the parents who were so

> brave to talk about there worries and who were so open to share

> their experiences with me. I really hope that I have been able to

> answer all there questions sufficiently.

> I learned most from the kids. When all the parents were busy at the

> workshops on sunday, I enjoyed watching and playing with their

> children in the daycare. Ellen, you were amazing! According to me,

> the conference could not have ended in a better way. You have filled

> many hearts with hope.

> Last but not least I want to apologize for my presence at the

> fathers workshop. For some reason I am always very interested in

> what is going on in the heads of fathers. Most of the time it is

> mother who is most engaged in the care of the CHARGE child (I know

> that there are exceptions) and most attention of proffesionals go to

> the mothers, while fathers must have their own worries and

> anxieties. Mums, thought, are better talkers. I bet there are male

> members of this list, but most e-mails are send by females.

> I also want to apologize for joking about the CHD7 mutations

> ocurring in sperm cells. Please do remember that it is not your but

> nature's fault. Nature is not perfect and we have got to accept

> that, albeit hard of course.

> I realize that my presentation was not an easy one. If you still

> have questions, please do not hesitate to contact me.

>

> For all of you who wonders: No, I do not have a jet lag.

>

> warm greetings,

> Conny

>

>

>

>

>

>

>

> Membership of this email support groups 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 CHARGE Syndrome Foundation web page

> at http://www.chargesyndrome.org

> 7th International

> CHARGE Syndrome Conference, Miami Beach, Florida, July 22-24, 2005.

> Information will be available at our website

> www.chargesyndrome.org or by calling 1-. In Canada, you may

> contact CHARGE Syndrome Canada at 1- (families), visit

> www.chargesyndrome.ca, or email info@.... Thank you!

>

>