Kaylee's gene mutauon

[kayleesgrandma]

So I've been waiting to get Kaylee's results from her genetics test which she had at her last 3-mo. cf check-up. I would have never known to ask for it if it hadn't been for you guys. I think they were surprised that I knew about it. At first they said it had to be ok'd by ins., but that ins. co. didn't like to pay for it. Dr. said it was important because of some new gene Rx that were targeting specific gene mutations. I said that if the ins. co. could pay for Viagra for old geezers, they could sure as heck pay for something that was life or death! He agreed--next day we got a call oking it. I also had brother Jaykub sweat-tested. Haven't heard what his no. was, but they said he doesn't have it.
I finally called after waiting almost 2 mo. Kaylee has the DeltaF508 and the Y122X mutation. What is the Y122X? Her sweat test no. was 115. What were some of your sweat test numbers?
I just want to thank all of you for all the info. you post, and keep on posting for us newbees. Especially for all the gentle patience you have when we ask questions you may have answered in the past. My heart is full of gratitude to you all.

 

[NoExcuses]

i am delta F 508 and Delta I 507.

0.2% of CF patients have my Delta I 507. Weird. Pretty rare.

And of course 67% of CF patients have Delta F508 (more maybe the # is higher)

 

[kayleesgrandma]

Thanks Amy, what does the other mutation mean, or is there some way to look them up?

 

[NoExcuses]

there is a post about 2 threads below this one called Great Link with CF genotype/phenotype info .

it's lengthy, but it's a good paper on different mutations.

CF mututations have something to do with clinical outcomes. but modifier genes do as well, so don't bet the farm on the mutations. people with the same mutations almost always have different severity of illness

 

[zoe4life]

Hi! Zoe has D508 and 1717-1G->A.  Her sweat numbers were in
the 120's.<br>
She has major pancreatic issues, coughs some, gets extremely
mucousy when sick, sweats and dehydrates quickly, has some joint
pain in her legs when she wakes up.<br>
She was diagnosed last April at 1 yr. She is 27 months old and
weighs 25 lbs.<br>
<br>
Have a great day!<br>
Jada<br>
Zoe's mom

 

[Seana30]

Terri,

I am glad to hear you stood up and told the docs what you wanted done. I wish I would have done that with Courtney much earlier. It would have saved Courtney, and her father and I alot of pain.

Courtney is DF508 and one unknown.

She had MANY sweat tests. 6 to be exact. They all ranged from 60's to the 90's.

Seana

 

[BigBee]

Terri,
In my quick research of Y122x, it seems to have a strong link to France.

For what it is worth, I also found the following quote in a paper "The frequent Y122X CF-mutation reported in "la Reunion" seems to affect mainly height in children with a relatively good nutritional outcome"

 

[Alyssa]

I don't really know what I'm talking about here, but wanted to chime in with:

<b>I think</b> the genes that end in an<b> x</b> are a good thing because they are the ones that can be "cured" by some new drug/gene therapy they are getting close to releasing.... anyone have any more info on that?

 

[kayleesgrandma]

Thanks everyone--you've been a big help. <img src="i/expressions/heart.gif" border="0">

 

[NoExcuses]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>

I don't really know what I'm talking about here, but wanted to chime in with:



<b>I think</b> the genes that end in an<b> x</b> are a good thing because they are the ones that can be "cured" by some new drug/gene therapy they are getting close to releasing.... anyone have any more info on that?</end quote></div>



i'm hoping allie can answer this. i know she's aware of research that's going on in israel....

 

[kayleesgrandma]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>amy</b></i>

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Alyssa</b></i>



I don't really know what I'm talking about here, but wanted to chime in with:







<b>I think</b> the genes that end in an<b> x</b> are a good thing because they are the ones that can be "cured" by some new drug/gene therapy they are getting close to releasing.... anyone have any more info on that?</end quote></div>







i'm hoping allie can answer this. i know she's aware of research that's going on in israel....</end quote></div>

I'm hoping too, the CF Dr. alluded to something about new gene Rx for specific mutations, and that's why he wanted to do the test--after I'd prodded him to! Thanks Amy and Alyssa