Re: Re: Mutations/new on the list/Salva

[Guest guest]

Fascinating, and hello to you in Spain; you are right about the " stop "

mutations

and when I was treated with Gentamicin some years ago, I did permanently

improve! No one knew why then, though!

Love to you and yours,

n Rojas (soy de hablar espanol) in California! Welcome to our

wonderful

list, wild conversations and strange questions.

Re: Mutations/new on the list

> Hello all from Spain.

> After lurking some time and learning so much from this list (not writing

> because is difficult for me in English and I had not any important things

to

> say), I will try to contribute in some questions.

> I am the father of a 12 yo girl, Olaia, with cf, and a 15 yo boy, Alvaro,

> without. Olaia is doing great till now. She has deltaF508 and g542x.

>

> From what I understand Torin has three mutations: a CFTR gen with two

> mutations in one chromosome and one in the other. They don't know witch

two

> are together and witch alone. That is why they want to study their

parents.

> One of his mutations is y913x, a stop mutation. That means that gentamicin

> could correct the genetic defect. Olaia is on inhaled gentamicin since

eight

> months ago (in some Spanish hospitals the protocol includes long term

> inhaled-gentamicine to prevent pseudomonas colonization). Well I can say

> that from the first moment we clearly noticed how the lungs were working

> better (much less coughing, and now eight months without a cold). The

> problem of the gentamicine are the side effects (possible kidney damage).

It

> is known that when inhaled the side effects are much lower, but nobody

knows

> the effect of genta when given during years. For the moment we follow on.

> There are some ongoing studies (Cleveland and Jerusalem) about genta, and

> looking for any substance with the same effects on

> the gene than gentamicin but less side effects.

>

> Salva

>

>

>

>

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

> 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.

>

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>

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