Question about Mutation Classes

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candi81

New member
I've been reading a lot lately about the different CF mutation classes and what they mean. My question is, where can I find out exactly what class my son's 2nd, more rare mutation is in? Our clinic doesn't have a geneticist, and his doctor doesn't give me direct answers.
 
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candi81

New member
I've been reading a lot lately about the different CF mutation classes and what they mean. My question is, where can I find out exactly what class my son's 2nd, more rare mutation is in? Our clinic doesn't have a geneticist, and his doctor doesn't give me direct answers.
 
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Printer

Active member
Brandy:

I don't know much about the mutation classes but what I do know is, If your son's Doctor "dosen't give me direct answers" then GET ANOTHER CF DOCTOR. There is a REASON that he is not answering you. Whatever that reason may be, it is NOT GOOD FOR YOUR SON.

Bill
 
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Printer

Active member
Brandy:

I don't know much about the mutation classes but what I do know is, If your son's Doctor "dosen't give me direct answers" then GET ANOTHER CF DOCTOR. There is a REASON that he is not answering you. Whatever that reason may be, it is NOT GOOD FOR YOUR SON.

Bill
 
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candi81

New member
I guess I made him sound worse than I should have. It's just when I try to ask mutation specific questions, he always tells me not to put too much emphasis on them, because they don't hold a direct relation to the severity of the disease. I realize this, but my main focus is just to understand more about the mutations, especially his second one..since I've only seen one other person world-wide who has it. Knowing more about the mutation could be beneficial when it comes to the newer drugs such as Kalydeco.
 
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candi81

New member
I guess I made him sound worse than I should have. It's just when I try to ask mutation specific questions, he always tells me not to put too much emphasis on them, because they don't hold a direct relation to the severity of the disease. I realize this, but my main focus is just to understand more about the mutations, especially his second one..since I've only seen one other person world-wide who has it. Knowing more about the mutation could be beneficial when it comes to the newer drugs such as Kalydeco.
 
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Printer

Active member
OK your Doctor is correct. People with the same exact mutations can have extremely different symptoms. The ongoing testing for VX899 (that number may be incorrect) is testing for Delta F508, so it will be that mutation that will enable your son to take Kalydeco.

Bill
 
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Printer

Active member
OK your Doctor is correct. People with the same exact mutations can have extremely different symptoms. The ongoing testing for VX899 (that number may be incorrect) is testing for Delta F508, so it will be that mutation that will enable your son to take Kalydeco.

Bill
 
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Calimom

New member
It's true that mutations don't give a huge amount of info about outcomes. However, as you said, it can be useful to know. You can go to this web address:

http://www.genet.sickkids.on.ca/Home.html

and search. I think the easiest way is to choose "search," then choose "text," and then enter the mutation number/letter combo. From my perspective, the more you know about every aspect of the disease, the better. Good luck!
 
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Calimom

New member
It's true that mutations don't give a huge amount of info about outcomes. However, as you said, it can be useful to know. You can go to this web address:

http://www.genet.sickkids.on.ca/Home.html

and search. I think the easiest way is to choose "search," then choose "text," and then enter the mutation number/letter combo. From my perspective, the more you know about every aspect of the disease, the better. Good luck!
 
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Mommafirst

Guest
The more rare mutations havent all been classified, but the CFF and Johns Hopkins are working on a new website -- CFTR2 -- that will better show the classes. Its not live yet ande even when it goes live, the unclassied mutations will be the last to go visible.
 
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Mommafirst

Guest
The more rare mutations havent all been classified, but the CFF and Johns Hopkins are working on a new website -- CFTR2 -- that will better show the classes. Its not live yet ande even when it goes live, the unclassied mutations will be the last to go visible.
 
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Anomie

New member
Bill:
You are incorrect. Having delta f508 will NOT allow you to get kalydeco. Kalydeco goes to fix the class 3 gating mutations like G551D. The deltas are just going to have to wait to see if vx 661 or 809 does the trick.
 
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Anomie

New member
Bill:
You are incorrect. Having delta f508 will NOT allow you to get kalydeco. Kalydeco goes to fix the class 3 gating mutations like G551D. The deltas are just going to have to wait to see if vx 661 or 809 does the trick.
 
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saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Anomie</b></i> Bill: You are incorrect. Having delta f508 will NOT allow you to get kalydeco. </end quote>

You are incorrect, Anomie. I have DF508 and Di507 and I have Kalydeco.
Who told you we're not ALLOWED to get it?
 
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saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Anomie</b></i> Bill: You are incorrect. Having delta f508 will NOT allow you to get kalydeco. </end quote>

You are incorrect, Anomie. I have DF508 and Di507 and I have Kalydeco.
Who told you we're not ALLOWED to get it?
 
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saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>candi81</b></i> I've been reading a lot lately about the different CF mutation classes and what they mean. My question is, where can I find out exactly what class my son's 2nd, more rare mutation is in? Our clinic doesn't have a geneticist, and his doctor doesn't give me direct answers.</end quote>

Have you asked Bill @ Ambry Genetics?
 
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saveferris2009

New member
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>candi81</b></i> I've been reading a lot lately about the different CF mutation classes and what they mean. My question is, where can I find out exactly what class my son's 2nd, more rare mutation is in? Our clinic doesn't have a geneticist, and his doctor doesn't give me direct answers.</end quote>

Have you asked Bill @ Ambry Genetics?
 
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