Anyone have info about this mutation?

[kcw082407]

Hi! KC has deltaF508 and 4218insT mutations with a 7T/9T polyvariant. The only info I can find is that there are only 3 other people with this mutation. I am wondering if this can be correct? She has the pancreatic insuff, had bad GI issues prior to enzymes, but doesn't have any lung symptoms at this point.

I did email Ambry and they weren't able to give me too much more info than what I already had from our CF clinic.

Any info would be appreciated.

Thanks,


Kim,
mom of 2yo w/ CF

 

[kcw082407]

Hi! KC has deltaF508 and 4218insT mutations with a 7T/9T polyvariant. The only info I can find is that there are only 3 other people with this mutation. I am wondering if this can be correct? She has the pancreatic insuff, had bad GI issues prior to enzymes, but doesn't have any lung symptoms at this point.

I did email Ambry and they weren't able to give me too much more info than what I already had from our CF clinic.

Any info would be appreciated.

Thanks,


Kim,
mom of 2yo w/ CF

 

[kcw082407]

Hi! KC has deltaF508 and 4218insT mutations with a 7T/9T polyvariant. The only info I can find is that there are only 3 other people with this mutation. I am wondering if this can be correct? She has the pancreatic insuff, had bad GI issues prior to enzymes, but doesn't have any lung symptoms at this point.

I did email Ambry and they weren't able to give me too much more info than what I already had from our CF clinic.

Any info would be appreciated.

Thanks,


Kim,
mom of 2yo w/ CF

 

[kcw082407]

Hi! KC has deltaF508 and 4218insT mutations with a 7T/9T polyvariant. The only info I can find is that there are only 3 other people with this mutation. I am wondering if this can be correct? She has the pancreatic insuff, had bad GI issues prior to enzymes, but doesn't have any lung symptoms at this point.

I did email Ambry and they weren't able to give me too much more info than what I already had from our CF clinic.

Any info would be appreciated.

Thanks,


Kim,
mom of 2yo w/ CF

 

[kcw082407]

Hi! KC has deltaF508 and 4218insT mutations with a 7T/9T polyvariant. The only info I can find is that there are only 3 other people with this mutation. I am wondering if this can be correct? She has the pancreatic insuff, had bad GI issues prior to enzymes, but doesn't have any lung symptoms at this point.
<br />
<br />I did email Ambry and they weren't able to give me too much more info than what I already had from our CF clinic.
<br />
<br />Any info would be appreciated.
<br />
<br />Thanks,
<br />
<br />
<br />Kim,
<br />mom of 2yo w/ CF