CFTR2 Site is now active

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mamaScarlett

Active member
Thank you so much for posting this. I've been waiting for this to open up.
Found some interesting info on my 2nd mutation. I knew it was rare, but the CFTR2 site confirmed that and gave me more info that has my mind boggling.
Its called L558S. There are only 10 documented cases of it. The site says there is currently not enough information to determine whether or not it causes Cf....'based on information obtained from patients with this mutation, and experiments performed on this mutation,<span>we cannot determine whether or not L558S causes CF when combined with a CF-causing mutation. Therefore, clinical information for this mutation is not shown.'
<span>.......................???? Don't you just love genetics
 
M

mamaScarlett

Active member
Thank you so much for posting this. I've been waiting for this to open up.
Found some interesting info on my 2nd mutation. I knew it was rare, but the CFTR2 site confirmed that and gave me more info that has my mind boggling.
Its called L558S. There are only 10 documented cases of it. The site says there is currently not enough information to determine whether or not it causes Cf....'based on information obtained from patients with this mutation, and experiments performed on this mutation,<span>we cannot determine whether or not L558S causes CF when combined with a CF-causing mutation. Therefore, clinical information for this mutation is not shown.'
<span>.......................???? Don't you just love genetics
 
L

LouLou

New member
Interesting...it says my son's mutation S1235R does not cause cf. No where on the internet have I ever read this so I sort of wonder where they are getting this information. I'm not sure how they can say this when there are so many people out there that have this mutation (along with another known or unknown) and have symptoms. Granted some of the symptoms are very mild and maybe not cf?!?!?? I'd always heard PS with mild lung involvement and suspected them to go with that statement.

I don't really get genetics very well but I guess all those people could have another unidentified mutation on another allele. Geesh...I wonder if this is going to effect our ability for Isaac to get Kalydeco. His doctor had been totally FOR him starting it the day it became available for adults off label but when we saw her recently we all decided to give it until next visit to rediscuss (3 months) after others had worked out the bugs prescribing it for peds and figured out the right dosing. His doctor is Marie Egan who is very involved with research (she has her own lab) and I wonder if she is worried the possible effects on the liver outweigh the possible benefits he would see from this medicine.

You must remember Isaac only battle with MRSA. He has no lung involvement, no PA and is PS as evident by a fecal elastase test. His sweat test is negative with a score at age 3 mo and 2 yrs of 10 and 11 on each arm. He has always been a normal size ranging from 50-90% on the curve. We do vest twice a day and saline rinse 1-2 times a day. When he is sick we bump everything up.

Sure many that read my message are saying this is great news dear - take it! But I'm skeptical especially anything to do with cf and reproduction as it is politically loaded topic.

What would you do?
 
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LouLou

New member
Interesting...it says my son's mutation S1235R does not cause cf. No where on the internet have I ever read this so I sort of wonder where they are getting this information. I'm not sure how they can say this when there are so many people out there that have this mutation (along with another known or unknown) and have symptoms. Granted some of the symptoms are very mild and maybe not cf?!?!?? I'd always heard PS with mild lung involvement and suspected them to go with that statement.

I don't really get genetics very well but I guess all those people could have another unidentified mutation on another allele. Geesh...I wonder if this is going to effect our ability for Isaac to get Kalydeco. His doctor had been totally FOR him starting it the day it became available for adults off label but when we saw her recently we all decided to give it until next visit to rediscuss (3 months) after others had worked out the bugs prescribing it for peds and figured out the right dosing. His doctor is Marie Egan who is very involved with research (she has her own lab) and I wonder if she is worried the possible effects on the liver outweigh the possible benefits he would see from this medicine.

You must remember Isaac only battle with MRSA. He has no lung involvement, no PA and is PS as evident by a fecal elastase test. His sweat test is negative with a score at age 3 mo and 2 yrs of 10 and 11 on each arm. He has always been a normal size ranging from 50-90% on the curve. We do vest twice a day and saline rinse 1-2 times a day. When he is sick we bump everything up.

Sure many that read my message are saying this is great news dear - take it! But I'm skeptical especially anything to do with cf and reproduction as it is politically loaded topic.

What would you do?
 
L

LouLou

New member
Okay I just re-read the site and read the scientific version which gave a more detailed answer and seemed to basically say what I figured. They assume that for people with S1235R that have true cf symptoms that S1235R is likely not the cause that there is a 2nd unknown mutation. But they also say they aren't 100% sure that s1235R doesn't have some correlation.

I think we'll just leave it the way things are. If nothing else the vest and sinus rinses keep him from getting colds and that keeps me healthier.
 
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LouLou

New member
Okay I just re-read the site and read the scientific version which gave a more detailed answer and seemed to basically say what I figured. They assume that for people with S1235R that have true cf symptoms that S1235R is likely not the cause that there is a 2nd unknown mutation. But they also say they aren't 100% sure that s1235R doesn't have some correlation.

I think we'll just leave it the way things are. If nothing else the vest and sinus rinses keep him from getting colds and that keeps me healthier.
 
C

chicagocubsmom

New member
Is the site no longer working? I can access it from my phone but when I use IE or Firefox from two separate desktop computers, it won't let me get past the home page with the green button "Enter the site for CF patients, family members and carriers." Super bummed out!
 
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chicagocubsmom

New member
Is the site no longer working? I can access it from my phone but when I use IE or Firefox from two separate desktop computers, it won't let me get past the home page with the green button "Enter the site for CF patients, family members and carriers." Super bummed out!
 
C

chicagocubsmom

New member
Nevermind, that's what I get for using Google. The site only works if you're on the "dot org" version, not on the "dot com" version for some reason. Incomudrox's link works - thank you!
 
C

chicagocubsmom

New member
Nevermind, that's what I get for using Google. The site only works if you're on the "dot org" version, not on the "dot com" version for some reason. Incomudrox's link works - thank you!
 
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marnie

New member
I had a child with CF in 1986 and he passed away in 1992. This was way before mutations. I have a basic understanding of this but how would I be able to investigate this further to see what mutations I have or my surviving children have. I realize they would have to get genetic testing but would insurance pay for this? I think it would be beneficial. My three sons were born before they could even test for CF before a child was born. They had sweat tests after birth. We dont know if they are carriers or not. My youngest daughter who was born in 94 was tested by amnio and she has her fathers CF gene. I apparently at the time had a type that they couldn't tell yet that I even had the CF gene. What would be my best approach to start the process for my children?
 
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marnie

New member
I had a child with CF in 1986 and he passed away in 1992. This was way before mutations. I have a basic understanding of this but how would I be able to investigate this further to see what mutations I have or my surviving children have. I realize they would have to get genetic testing but would insurance pay for this? I think it would be beneficial. My three sons were born before they could even test for CF before a child was born. They had sweat tests after birth. We dont know if they are carriers or not. My youngest daughter who was born in 94 was tested by amnio and she has her fathers CF gene. I apparently at the time had a type that they couldn't tell yet that I even had the CF gene. What would be my best approach to start the process for my children?
 
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