Re: more info about mutations/reply

[Guest guest]

Becky; many of the " stop " mutations are, as there is NO cftr getting through;

all I

can say is, here I am, at 62, and the oldest formally identified cfers in the

country

are 75+ and 82! with Delta F508 x 2 genotypes! With high hopes!

n Rojas

[Guest guest]

Well, technically I suppose they are sterile if they can't impregnate anyone

(such as when the vas deferens are incomplete) but not actually sterile because

they probably produce sperm. Although I thought I heard (could be wrong) that

some men with CF who are sterile actually don't produce sperm or are missing the

correct sperm producing apparatus.

This is coming from memory and I could be wrong but I thought I remembered

reading that.

Becky

[Guest guest]

Wow, n, I didn't know you were homozygous for DeltaF508! That

is very inspiring!

Becky

[Guest guest]

BECKY,

My grandaughter is DeltaF508 too.She hasn't ever

had illness yet.I know she could at anytime. BUt,

you've seen pictures of her and know her records.

No IV's, No hospital, no sick out of school

.....mecomium iliues at birth....does pulmo /vest

and takes enzymes......I think they have allot of

work on the which ones do what, sicker, etc.I

just keep her in my prayers & she does activities

all the time.I do think knowing early helped

awhole lot too.

LOVE, GRDNMOMBEV

Re: more info about

mutations/reply

Wow, n, I didn't know you were homozygous for

DeltaF508! That

is very inspiring!

Becky

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[Guest guest]

I'm not;that would make me a carrier; mine are R117H/R45530X, and I haven't

pulled

out the file; that's just from memory; the longest lived, 82, and 75+ are

double

DeltaF508, that is, heterozygotes, with two copies. I hope this helps!

n Rojas who adds that her genotypes (alleles) are mediterranian as I am a

person of Sephardic (Hebrew for 'Spanish' ) Jewish background back to 1492!

[Guest guest]

Someone correct me if I am wrong, but men with CBAVD aren't sterile, they

produce sperm just like any other man. The problem is that with the Vas

Deferens (spelling?) missing the sperm can't get out the normal way. I

believe there are already ways though to get it out and then using pretty

common techniques by today's standards insert it in the potential mother for

a biological child. I figure by the time our kids are ready to have kids

this process will be even simpler.

Lori

mom to Scout 2 wCF

more info about mutations/reply

>

> This infertility thing makes me feel very sad, but I

> understand that achieving a good nutritional status, clean

> throat cultures and clear lungs is our major goal for the

> time being.

>

[Guest guest]

No, you are not wrong, but the effect is infertility, in real life!

n Rojas

[Guest guest]

Hi Lori,

Though it is true that men with CBAVD do produce

sperm, the sperm are " immature " , so even though

they can aspirate it, it is not motile and can't

be used in something like artificial insemination.

It has to be a procedure called ICSI - Intra

Cytoplasmic Sperm Injection, in which the immature

sperm is injected into the mature ovum through the

cytoplasmic membrane. This is an extra step

beyond IVF. We had it done to produce our twins,

and , since my DH has CBAVD, though

he does not present symptoms of CF.

mommy to Mick and Alli, 14 mo twins wcf

--- Lori Devoti wrote:

I

> believe there are already ways though to get it out

> and then using pretty

> common techniques by today's standards insert it in

> the potential mother for

> a biological child.

>

> Lori

> mom to Scout 2 wCF

>

>

> more info about mutations/reply

>

>

> >

> > This infertility thing makes me feel very sad, but

> I

> > understand that achieving a good nutritional

> status, clean

> > throat cultures and clear lungs is our major goal

> for the

> > time being.

> >

>

>

>

__________________________________________________

[Guest guest]

Well, Ricky has bilateral incomplete vas deferens and beyond that I don't

know.

Becky Whicker

beckerbuns@... or letscurecf@...

mom of Ricky (11/26/95) with CF and Andy (3/18/98) no CF

Shop the web and raise money for CFRI!

http://www.geocities.com/beckerbuns/store.html

[Guest guest]

Interesting.

Something someone else posted made me wonder something else. Someone

indicated that with CF you could have partial blockage or maybe only absence

of the vas deferens on one side is that true? I have just always read about

the bilateral absence. If there is partial blockage/absence does it just

lower sperm count or does it still cause this " immature " sperm problem?

Lori

mom to Scout 2wCF

Re: more info about mutations/reply

> Hi Lori,

>

> Though it is true that men with CBAVD do produce

> sperm, the sperm are " immature " , so even though

> they can aspirate it, it is not motile and can't

> be used in something like artificial insemination.

>

> It has to be a procedure called ICSI - Intra

> Cytoplasmic Sperm Injection, in which the immature

> sperm is injected into the mature ovum through the

> cytoplasmic membrane. This is an extra step

> beyond IVF. We had it done to produce our twins,

> and , since my DH has CBAVD, though

> he does not present symptoms of CF.

>

>

> mommy to Mick and Alli, 14 mo twins wcf

>

> --- Lori Devoti wrote:

> I

> > believe there are already ways though to get it out

> > and then using pretty

> > common techniques by today's standards insert it in

> > the potential mother for

> > a biological child.

> >

> > Lori

> > mom to Scout 2 wCF

> >

> >

[Guest guest]

Hi Trish,

if you wanna see and read something encouraging, go to the following

site.

http://home.t-online.de/home/skruip/

There you see a man with CF, his wife and his son, " produced " via

ICSI. And in summer the couple will have twins!

The site is only in German, so everyone else might take a look, but

you won't be able to read

Bye

Torsten

[Guest guest]

Thank you very much, Torsten! You always have such good CF-

related info. I very much appreciate your concern on this

issue. Now I'm in my office, so I can't take too long to

visit and try to understand that site; I'll try later from

home tonight -- with my Langenscheidt on my desk! :-)

Love to Princess Fiona,

> Hi Trish,

>

> if you wanna see and read something encouraging, go to

the following

> site.

>

> http://home.t-online.de/home/skruip/

>

> There you see a man with CF, his wife and his

son, " produced " via

> ICSI. And in summer the couple will have twins!

>

> The site is only in German, so everyone else might take

a look, but

> you won't be able to read

>

> Bye

> Torsten

>

[Guest guest]

Hi Lori,

I'm no doctor, but I assume if there is partial

blockage or absence of only one vas, then there is

a way for the sperm to get out, and then they

would be able to mature. My understanding is that

sperm matures after leaving the testes. If there is

no way out, they can't mature. So, if they have

an avenue, even one vas, there will be some sperm

maturing. However, the count would probably be

severely affected, which can cause infertility,

but not necessarily sterility.

Still, this is just an assumption on my part, and

shouldn't be taken as gospel.

mommy to and , twins wcf

--- Lori Devoti wrote:

> Interesting.

>

> Something someone else posted made me wonder

> something else. Someone

> indicated that with CF you could have partial

> blockage or maybe only absence

> of the vas deferens on one side is that true? I have

> just always read about

> the bilateral absence. If there is partial

> blockage/absence does it just

> lower sperm count or does it still cause this

> " immature " sperm problem?

>

> Lori

> mom to Scout 2wCF

>

> Re: more info about

> mutations/reply

>

>

> > Hi Lori,

> >

> > Though it is true that men with CBAVD do produce

> > sperm, the sperm are " immature " , so even though

> > they can aspirate it, it is not motile and can't

> > be used in something like artificial insemination.

> >

> > It has to be a procedure called ICSI - Intra

> > Cytoplasmic Sperm Injection, in which the immature

> > sperm is injected into the mature ovum through the

> > cytoplasmic membrane. This is an extra step

> > beyond IVF. We had it done to produce our twins,

> > and , since my DH has CBAVD, though

> > he does not present symptoms of CF.

> >

> >

> > mommy to Mick and Alli, 14 mo twins wcf

> >

> > --- Lori Devoti wrote:

> > I

> > > believe there are already ways though to get it

> out

> > > and then using pretty

> > > common techniques by today's standards insert it

> in

> > > the potential mother for

> > > a biological child.

> > >

> > > Lori

> > > mom to Scout 2 wCF

> > >

> > >

>

>

>

__________________________________________________