Re: Re: CFTR function/Mild CF/ANNA

[Guest guest]

Yeah, but I think the goof has been at my end here, as

the stupid computer has been being repaired, but as my

brain wakes up, I do recall our discussion. Finally!

I owe YOU the apology!

Love, and I mean it,

n

Re: CFTR function/Mild CF

>

> Geeeeeeeee, I hate this machine, I lost this post after writing it

> twice!!. Here we go again!

>

> My dear n(this is my third apology),

>

> I apologize if it sounded as if you have a mild form of CF. That was

> not my intention. Remember when we had this talk and it was said

> that there is no such thing as a mild case of cf that it all depends

> on the gene penetration. This is when I mentioned your name and

> 's name because you can explain the gene penetration better

> than I can. Hence, the example of some CF patients that I know that

> are double delta 508 and are asimtomatic or with very little

> symtoms. I do know that you only have one of the delta 508. Where

> as in some people double delta 508 presents itself very severe. So,

> again my point, and my apologies, it mostly lies on the gene

> penetration. Am I making sense?

> Again so sorry,

>

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> > > > I have been curious as to what is considered mild CF and how,

> other

> > > > than clinically it could be determined if a case is mild or

> > > severe.

> > > > I understand now that the only way is clinically or just how

> > > intense

> > > > the symptoms are compared with other cases. The genotype

> reveals

> > > > exactly what the particular malfunction of CFTR is but it

> doesn't

> > > > spell out severity because other genes, known as modifiers make

> the

> > > > same mutations produce different results in different people.

> > > >

> > > > I asked one of the nurses on our team if the course of CF all

> > > boiled

> > > > down to the level of CFTR function and she said yes. That may

> > > sound

> > > > like a dumb question but I was sort of thinking that the level

> of

> > > > CFTR function was rather consistent with each genotype and the

> > > > modifier genes made the body able to withstand the lack of

> chloride

> > > > transport better in some than in others. Actually she said the

> > > > modifiers directly affected the level of CFTR function and that

> was

> > > > the true bottom line concerning severity of CF. If the CFTR

> > > function

> > > > is very low preventing most or all chloride from escaping the

> cell

> > > > then this translates into a harder case than when there is more

> > > > activity there and so on. The more CFTR is working, the better

> off

> > > > they are. I guess that it also works to a different degree in

> > > > different parts of the body, making some have less or more

> problems

> > > > in the pancreas or lungs.

> > > >

> > > > What good it does me to know that I don't know because she also

> > > said

> > > > they can't test the cells to check the level of CFTR working.

> And

> > > > even if they could, they couldn't do a lot about it. At least

> not

> > > > right now anyway. It just helped me to understand a little

> better

> > > > and I thought I'd share it. If I got something wrong please

> > > correct

> > > > me.

> > > >

> > > > Joe

> > >

> > >

> > >

> > > -------------------------------------------

> > > The opinions and information exchanged on this list should IN NO

> WAY

> > > be construed as medical advice.

> > >

> > > PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR

> > TREATMENTS.

> > >

> > > ------------------------------------

> > >

> > >

> > >