I just found out my son's mutation!

[folione]

I know it's hard to resist the desire to know how it's going to turn out down the road, but I think past experience of older CF patients and lab studies of them are not really that useful unless hearing that it's a "severe" mutation is going to make you behave differently about treatments, etc. than hearing it's a "mild" mutation.

My son's has a class 1 and class 2 mutation (dF508 and q220x) which says he's in the "severe" group - and really, all it does is make me fret about the distant future despite his being health as a horse right now. He needs enzymes, but not a very high dose, and his lungs have shown almost no tendency to get mucosy. He's cultured PsA a couple times and killed it in pretty short order and when he gets a cold it lasts no longer than and maybe even shorter than his non-CF cohorts. So what am I supposed to do with the so-called "information" about his mutations besides worry about it?

 

[hikingmomde]

I suppose you're right. I feel like the better I understand the science of it, the more real it seems to me, which is why I'm interested I guess. Because I know so little about the disease right now (no family history, daughter just got a positive dx less than a month ago), I'm just anxious to understand it better . . .

 

[hikingmomde]

I suppose you're right. I feel like the better I understand the science of it, the more real it seems to me, which is why I'm interested I guess. Because I know so little about the disease right now (no family history, daughter just got a positive dx less than a month ago), I'm just anxious to understand it better . . .

 

[hikingmomde]

I suppose you're right. I feel like the better I understand the science of it, the more real it seems to me, which is why I'm interested I guess. Because I know so little about the disease right now (no family history, daughter just got a positive dx less than a month ago), I'm just anxious to understand it better . . .

 

[CFHockeyMom]

One more thing, Amber...

Q493X is not in the common panel (32 mutations) but in the extended panel (70 mutations). So, I'd say it's not one of the most common mutations but it's certainly one of the more common mutations. The common panel accounts for 90% of all mutations that cause CF. The extended panel accounts for 91% of all mutations that cause CF. So, that means the extra 38 mutations tested for in the extended panel only account for 1% of all mutations that cause CF. "Common" is a relative term especially in the CF community.

 

[CFHockeyMom]

One more thing, Amber...

Q493X is not in the common panel (32 mutations) but in the extended panel (70 mutations). So, I'd say it's not one of the most common mutations but it's certainly one of the more common mutations. The common panel accounts for 90% of all mutations that cause CF. The extended panel accounts for 91% of all mutations that cause CF. So, that means the extra 38 mutations tested for in the extended panel only account for 1% of all mutations that cause CF. "Common" is a relative term especially in the CF community.

 

[CFHockeyMom]

One more thing, Amber...

Q493X is not in the common panel (32 mutations) but in the extended panel (70 mutations). So, I'd say it's not one of the most common mutations but it's certainly one of the more common mutations. The common panel accounts for 90% of all mutations that cause CF. The extended panel accounts for 91% of all mutations that cause CF. So, that means the extra 38 mutations tested for in the extended panel only account for 1% of all mutations that cause CF. "Common" is a relative term especially in the CF community.

 

[amber682]

Hikingmomde- thanks for sharing. My son got the deltaF508 from me, it was picked up in a prenatal screening blood test. So we had his dad tested and it came back that he wasn't a carrier. So however many mutations that screened for apparently wasn't enough! I know how overwhelming it is. But it does get easier over time. I too feel like I want to know everything I can, read everything I can. When my son was first diagnosed the doctors couldn't believe how fast I got through the big fat book they had given me about CF. The more you know the easier it is to understand and then the easier it is to deal with, to me atleast.

Folione- You are right about knowing the mutation not necessarily doing any good but making someone worry more. I'll admit that when I knew only of his deltaF508 class II mutation I was hoping when they found out what the other one was it would be a class III or IV, thinking that would mean he'd be healthier throughout his life. (Like what was written in that post from Allie that Claudette posted.) I wasn't upset that the other mutation was a class I, but a little disappointed. But, like your son, my son's really healthy and cultured PA once and erradicated it, and cultures stenotrophomonas and staph. Surprisingly, we're having a bigger issue with weight now, and we've never had a lot of problems in the past with that once he started enzymes. I guess I just like to know as much as I can, even though sometimes it makes me worry more (same goes for reading things on this site in the adult section that my son is nowhere near dealing with himself but now I know and worry a little about some things).

Claudette- Interesting! Thanks! How did you get that info if you don't mind me asking. I couldn't find it anywhere. I figured it wasn't too rare of a mutation because on the report from Ambry under where it said the 2 mutations it said "no novel variations detected". I thought that might mean that they weren't some really rare mutation, but I'm not sure.


Thaks everyone so much for replying! I sometimes can't get over how great everyone on this site are and how everyone is dealing with issues of their own but takes the time to help others deal too. I don't know how I made it through the first year after diagnosis without you guys! It's addictive for sure. <img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[amber682]

Hikingmomde- thanks for sharing. My son got the deltaF508 from me, it was picked up in a prenatal screening blood test. So we had his dad tested and it came back that he wasn't a carrier. So however many mutations that screened for apparently wasn't enough! I know how overwhelming it is. But it does get easier over time. I too feel like I want to know everything I can, read everything I can. When my son was first diagnosed the doctors couldn't believe how fast I got through the big fat book they had given me about CF. The more you know the easier it is to understand and then the easier it is to deal with, to me atleast.

Folione- You are right about knowing the mutation not necessarily doing any good but making someone worry more. I'll admit that when I knew only of his deltaF508 class II mutation I was hoping when they found out what the other one was it would be a class III or IV, thinking that would mean he'd be healthier throughout his life. (Like what was written in that post from Allie that Claudette posted.) I wasn't upset that the other mutation was a class I, but a little disappointed. But, like your son, my son's really healthy and cultured PA once and erradicated it, and cultures stenotrophomonas and staph. Surprisingly, we're having a bigger issue with weight now, and we've never had a lot of problems in the past with that once he started enzymes. I guess I just like to know as much as I can, even though sometimes it makes me worry more (same goes for reading things on this site in the adult section that my son is nowhere near dealing with himself but now I know and worry a little about some things).

Claudette- Interesting! Thanks! How did you get that info if you don't mind me asking. I couldn't find it anywhere. I figured it wasn't too rare of a mutation because on the report from Ambry under where it said the 2 mutations it said "no novel variations detected". I thought that might mean that they weren't some really rare mutation, but I'm not sure.


Thaks everyone so much for replying! I sometimes can't get over how great everyone on this site are and how everyone is dealing with issues of their own but takes the time to help others deal too. I don't know how I made it through the first year after diagnosis without you guys! It's addictive for sure. <img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[amber682]

Hikingmomde- thanks for sharing. My son got the deltaF508 from me, it was picked up in a prenatal screening blood test. So we had his dad tested and it came back that he wasn't a carrier. So however many mutations that screened for apparently wasn't enough! I know how overwhelming it is. But it does get easier over time. I too feel like I want to know everything I can, read everything I can. When my son was first diagnosed the doctors couldn't believe how fast I got through the big fat book they had given me about CF. The more you know the easier it is to understand and then the easier it is to deal with, to me atleast.

Folione- You are right about knowing the mutation not necessarily doing any good but making someone worry more. I'll admit that when I knew only of his deltaF508 class II mutation I was hoping when they found out what the other one was it would be a class III or IV, thinking that would mean he'd be healthier throughout his life. (Like what was written in that post from Allie that Claudette posted.) I wasn't upset that the other mutation was a class I, but a little disappointed. But, like your son, my son's really healthy and cultured PA once and erradicated it, and cultures stenotrophomonas and staph. Surprisingly, we're having a bigger issue with weight now, and we've never had a lot of problems in the past with that once he started enzymes. I guess I just like to know as much as I can, even though sometimes it makes me worry more (same goes for reading things on this site in the adult section that my son is nowhere near dealing with himself but now I know and worry a little about some things).

Claudette- Interesting! Thanks! How did you get that info if you don't mind me asking. I couldn't find it anywhere. I figured it wasn't too rare of a mutation because on the report from Ambry under where it said the 2 mutations it said "no novel variations detected". I thought that might mean that they weren't some really rare mutation, but I'm not sure.


Thaks everyone so much for replying! I sometimes can't get over how great everyone on this site are and how everyone is dealing with issues of their own but takes the time to help others deal too. I don't know how I made it through the first year after diagnosis without you guys! It's addictive for sure. <img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[StevenKeiles]

I just wanted to let you all know that I posted a response on the Ambry thread because there were several posts over there that I came across first.

Regarding common or not common. You make a good point. The reality is that there is only one common mutation and that is deltaF508, all other mutations are rare and most are really rare. In fact >99% of all mutations occur with a frequency of less than 1%. Most of the mutations on the panels are rare as well and when you look at extended panels the frequency of each extra mutation is less than .1% Therefore it is possible that an extra 50 mutations might only add 1 or 2% extra detection.

Panel tests were designed for general population carrier screening and not for diagnostic testing. Comprehensive analysis is what should be used for CF diagnostic and high risk carrier screening.

Steve

 

[StevenKeiles]

I just wanted to let you all know that I posted a response on the Ambry thread because there were several posts over there that I came across first.

Regarding common or not common. You make a good point. The reality is that there is only one common mutation and that is deltaF508, all other mutations are rare and most are really rare. In fact >99% of all mutations occur with a frequency of less than 1%. Most of the mutations on the panels are rare as well and when you look at extended panels the frequency of each extra mutation is less than .1% Therefore it is possible that an extra 50 mutations might only add 1 or 2% extra detection.

Panel tests were designed for general population carrier screening and not for diagnostic testing. Comprehensive analysis is what should be used for CF diagnostic and high risk carrier screening.

Steve

 

[StevenKeiles]

I just wanted to let you all know that I posted a response on the Ambry thread because there were several posts over there that I came across first.

Regarding common or not common. You make a good point. The reality is that there is only one common mutation and that is deltaF508, all other mutations are rare and most are really rare. In fact >99% of all mutations occur with a frequency of less than 1%. Most of the mutations on the panels are rare as well and when you look at extended panels the frequency of each extra mutation is less than .1% Therefore it is possible that an extra 50 mutations might only add 1 or 2% extra detection.

Panel tests were designed for general population carrier screening and not for diagnostic testing. Comprehensive analysis is what should be used for CF diagnostic and high risk carrier screening.

Steve

 

[MomtoAdamAndTyler]

Hi Amber. I don't do a lot of posting on the site, but do check in now and then. I was surprised to find that your son has Q493X. My son also has this mutation. From what I understand it is a very rare mutation. From what I have seen it looks like less than 0.1% have this specific mutation. I have done some research, but have had little luck finding info beyond the basics of Q493X. I am still looking and will keep you in mind if I find something. We have 8 month twin boys, one with CF and one that does not have CF. They are such wonderful boys. We are so proud of them!

 

[MomtoAdamAndTyler]

Hi Amber. I don't do a lot of posting on the site, but do check in now and then. I was surprised to find that your son has Q493X. My son also has this mutation. From what I understand it is a very rare mutation. From what I have seen it looks like less than 0.1% have this specific mutation. I have done some research, but have had little luck finding info beyond the basics of Q493X. I am still looking and will keep you in mind if I find something. We have 8 month twin boys, one with CF and one that does not have CF. They are such wonderful boys. We are so proud of them!

 

[MomtoAdamAndTyler]

Hi Amber. I don't do a lot of posting on the site, but do check in now and then. I was surprised to find that your son has Q493X. My son also has this mutation. From what I understand it is a very rare mutation. From what I have seen it looks like less than 0.1% have this specific mutation. I have done some research, but have had little luck finding info beyond the basics of Q493X. I am still looking and will keep you in mind if I find something. We have 8 month twin boys, one with CF and one that does not have CF. They are such wonderful boys. We are so proud of them!

 

[amber682]

<div class="FTQUOTE"><begin quote>Hi Amber. I don't do a lot of posting on the site, but do check in now and then. I was surprised to find that your son has Q493X. My son also has this mutation. From what I understand it is a very rare mutation. From what I have seen it looks like less than 0.1% have this specific mutation. I have done some research, but have had little luck finding info beyond the basics of Q493X. I am still looking and will keep you in mind if I find something. We have 8 month twin boys, one with CF and one that does not have CF. They are such wonderful boys. We are so proud of them! </end quote></div>

Thank you! I had the same problem but I only found out a couple days ago and haven't spent a ton of time researching. Less than .1%, interesting. I too will keep you in mind if I find anything!<img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[amber682]

<div class="FTQUOTE"><begin quote>Hi Amber. I don't do a lot of posting on the site, but do check in now and then. I was surprised to find that your son has Q493X. My son also has this mutation. From what I understand it is a very rare mutation. From what I have seen it looks like less than 0.1% have this specific mutation. I have done some research, but have had little luck finding info beyond the basics of Q493X. I am still looking and will keep you in mind if I find something. We have 8 month twin boys, one with CF and one that does not have CF. They are such wonderful boys. We are so proud of them! </end quote></div>

Thank you! I had the same problem but I only found out a couple days ago and haven't spent a ton of time researching. Less than .1%, interesting. I too will keep you in mind if I find anything!<img src="i/expressions/face-icon-small-happy.gif" border="0">

 

[amber682]

<div class="FTQUOTE"><begin quote>Hi Amber. I don't do a lot of posting on the site, but do check in now and then. I was surprised to find that your son has Q493X. My son also has this mutation. From what I understand it is a very rare mutation. From what I have seen it looks like less than 0.1% have this specific mutation. I have done some research, but have had little luck finding info beyond the basics of Q493X. I am still looking and will keep you in mind if I find something. We have 8 month twin boys, one with CF and one that does not have CF. They are such wonderful boys. We are so proud of them! </end quote></div>

Thank you! I had the same problem but I only found out a couple days ago and haven't spent a ton of time researching. Less than .1%, interesting. I too will keep you in mind if I find anything!<img src="i/expressions/face-icon-small-happy.gif" border="0">