Re: Maggs. . . . .Unh, Oh!

[Guest guest]

What's a stop mutation?

Shanna

mom to Triana, age 2 wcf

Maggs. . . . .Unh, Oh!

That is a tall order! The variation is enormous and the course is al

ways variable. I am sure that you will get as many different responses

as there are those with cystic fibrosis on this list! And, for the undyingly

curious: my mutations have finally been determined to be: DeltaF508/

R1162X with some fragments of R553X on the short arm of the second

mutation. Those X's, which are stop mutations explain why I am not yet

dead, and in fact better off in many ways than I was twenty years ago!!!

Love and good luck with this one!

n Rojas, who nonetheless is not pancreatic sufficient!

[Guest guest]

Ok, thanks. And yes, I did understand that. You learn to understand some

science when your best friend is a paleobotanist.

Shanna

mom of Triana, age 2 wcf

Re: Maggs. . . . .Unh, Oh!

A " stop mutation " allows some small amount of the CFTR to enter the

cells, and the amount slowly increases (not much, but a little) over one's

lifetime--this the stop mutations, no matter how bad things start out, con

fer some degree of improved health unless major bronchiectasis (per

manent fibrotic scarring) has destroyed the outer airways where gas is

exchanged.

There---teach YOU to ask about something that I have posted! I hope

this helped and did not confuse too much!

Love to all at cfparents,

n Rojas

[Guest guest]

Ok, thanks. And yes, I did understand that. You learn to understand some

science when your best friend is a paleobotanist.

Shanna

mom of Triana, age 2 wcf

Re: Maggs. . . . .Unh, Oh!

A " stop mutation " allows some small amount of the CFTR to enter the

cells, and the amount slowly increases (not much, but a little) over one's

lifetime--this the stop mutations, no matter how bad things start out, con

fer some degree of improved health unless major bronchiectasis (per

manent fibrotic scarring) has destroyed the outer airways where gas is

exchanged.

There---teach YOU to ask about something that I have posted! I hope

this helped and did not confuse too much!

Love to all at cfparents,

n Rojas