Spontaneous Mutation

[vmhoward]

I tried to post this on the Genetics page but it wuldnt go so here goes.

ok,

My son Garran is DDF508, he has three siblings all of which have been genetic for DF508 only and have come back as all three carriers. My husband has been DNA tested for the top 30 and came back DF508 carrier( mostly because he seems to be Asymptomatic. I have not been tested at all because I have never had any types of symptoms at all, and they didnt do prenatal testing when I was having babies.

A few months ago my third child (no-CF) was in the hospital with pneumonia for the 5th time. And my sons CF Dr. was the Dr. on call on the ward that night and came into the room. He asked "Has Shawn ever been tested for CF?" I said that they did a DNA test but they only tested for DF508. He said with his history of Pneumonia and with his allergies and Asthma. that he wanted to do a sweat test and if it came back possitive to do a full DNA panel for the 1300+ known Genes for CF.

I said that doesnt make sence if Garran(his brother) is DDF508 and Shawn only has one DF508 doesnt that mean that he is just a carrier. Then the Dr. said well if it comes back that he has a different Gene type as Garran it could be one of two options :

1. Either me or my husband actually has CF but a different variation and the other is a carrier and we just didnt know it because it is mild.

2. Shawn had a Spontaneous Mutation

Is this actually possible? A Spontaneous Mutation? We have a few months before the test is done. I was just curious what you all thought or if any one had ever heard of this before.

 

[vmhoward]

I tried to post this on the Genetics page but it wuldnt go so here goes.

ok,

My son Garran is DDF508, he has three siblings all of which have been genetic for DF508 only and have come back as all three carriers. My husband has been DNA tested for the top 30 and came back DF508 carrier( mostly because he seems to be Asymptomatic. I have not been tested at all because I have never had any types of symptoms at all, and they didnt do prenatal testing when I was having babies.

A few months ago my third child (no-CF) was in the hospital with pneumonia for the 5th time. And my sons CF Dr. was the Dr. on call on the ward that night and came into the room. He asked "Has Shawn ever been tested for CF?" I said that they did a DNA test but they only tested for DF508. He said with his history of Pneumonia and with his allergies and Asthma. that he wanted to do a sweat test and if it came back possitive to do a full DNA panel for the 1300+ known Genes for CF.

I said that doesnt make sence if Garran(his brother) is DDF508 and Shawn only has one DF508 doesnt that mean that he is just a carrier. Then the Dr. said well if it comes back that he has a different Gene type as Garran it could be one of two options :

1. Either me or my husband actually has CF but a different variation and the other is a carrier and we just didnt know it because it is mild.

2. Shawn had a Spontaneous Mutation

Is this actually possible? A Spontaneous Mutation? We have a few months before the test is done. I was just curious what you all thought or if any one had ever heard of this before.

 

[vmhoward]

I tried to post this on the Genetics page but it wuldnt go so here goes.

ok,

My son Garran is DDF508, he has three siblings all of which have been genetic for DF508 only and have come back as all three carriers. My husband has been DNA tested for the top 30 and came back DF508 carrier( mostly because he seems to be Asymptomatic. I have not been tested at all because I have never had any types of symptoms at all, and they didnt do prenatal testing when I was having babies.

A few months ago my third child (no-CF) was in the hospital with pneumonia for the 5th time. And my sons CF Dr. was the Dr. on call on the ward that night and came into the room. He asked "Has Shawn ever been tested for CF?" I said that they did a DNA test but they only tested for DF508. He said with his history of Pneumonia and with his allergies and Asthma. that he wanted to do a sweat test and if it came back possitive to do a full DNA panel for the 1300+ known Genes for CF.

I said that doesnt make sence if Garran(his brother) is DDF508 and Shawn only has one DF508 doesnt that mean that he is just a carrier. Then the Dr. said well if it comes back that he has a different Gene type as Garran it could be one of two options :

1. Either me or my husband actually has CF but a different variation and the other is a carrier and we just didnt know it because it is mild.

2. Shawn had a Spontaneous Mutation

Is this actually possible? A Spontaneous Mutation? We have a few months before the test is done. I was just curious what you all thought or if any one had ever heard of this before.

 

[vmhoward]

I tried to post this on the Genetics page but it wuldnt go so here goes.

ok,

My son Garran is DDF508, he has three siblings all of which have been genetic for DF508 only and have come back as all three carriers. My husband has been DNA tested for the top 30 and came back DF508 carrier( mostly because he seems to be Asymptomatic. I have not been tested at all because I have never had any types of symptoms at all, and they didnt do prenatal testing when I was having babies.

A few months ago my third child (no-CF) was in the hospital with pneumonia for the 5th time. And my sons CF Dr. was the Dr. on call on the ward that night and came into the room. He asked "Has Shawn ever been tested for CF?" I said that they did a DNA test but they only tested for DF508. He said with his history of Pneumonia and with his allergies and Asthma. that he wanted to do a sweat test and if it came back possitive to do a full DNA panel for the 1300+ known Genes for CF.

I said that doesnt make sence if Garran(his brother) is DDF508 and Shawn only has one DF508 doesnt that mean that he is just a carrier. Then the Dr. said well if it comes back that he has a different Gene type as Garran it could be one of two options :

1. Either me or my husband actually has CF but a different variation and the other is a carrier and we just didnt know it because it is mild.

2. Shawn had a Spontaneous Mutation

Is this actually possible? A Spontaneous Mutation? We have a few months before the test is done. I was just curious what you all thought or if any one had ever heard of this before.

 

[vmhoward]

I tried to post this on the Genetics page but it wuldnt go so here goes.

ok,

My son Garran is DDF508, he has three siblings all of which have been genetic for DF508 only and have come back as all three carriers. My husband has been DNA tested for the top 30 and came back DF508 carrier( mostly because he seems to be Asymptomatic. I have not been tested at all because I have never had any types of symptoms at all, and they didnt do prenatal testing when I was having babies.

A few months ago my third child (no-CF) was in the hospital with pneumonia for the 5th time. And my sons CF Dr. was the Dr. on call on the ward that night and came into the room. He asked "Has Shawn ever been tested for CF?" I said that they did a DNA test but they only tested for DF508. He said with his history of Pneumonia and with his allergies and Asthma. that he wanted to do a sweat test and if it came back possitive to do a full DNA panel for the 1300+ known Genes for CF.

I said that doesnt make sence if Garran(his brother) is DDF508 and Shawn only has one DF508 doesnt that mean that he is just a carrier. Then the Dr. said well if it comes back that he has a different Gene type as Garran it could be one of two options :

1. Either me or my husband actually has CF but a different variation and the other is a carrier and we just didnt know it because it is mild.

2. Shawn had a Spontaneous Mutation

Is this actually possible? A Spontaneous Mutation? We have a few months before the test is done. I was just curious what you all thought or if any one had ever heard of this before.

 

[vmhoward]

I tried to post this on the Genetics page but it wuldnt go so here goes.

ok,

My son Garran is DDF508, he has three siblings all of which have been genetic for DF508 only and have come back as all three carriers. My husband has been DNA tested for the top 30 and came back DF508 carrier( mostly because he seems to be Asymptomatic. I have not been tested at all because I have never had any types of symptoms at all, and they didnt do prenatal testing when I was having babies.

A few months ago my third child (no-CF) was in the hospital with pneumonia for the 5th time. And my sons CF Dr. was the Dr. on call on the ward that night and came into the room. He asked "Has Shawn ever been tested for CF?" I said that they did a DNA test but they only tested for DF508. He said with his history of Pneumonia and with his allergies and Asthma. that he wanted to do a sweat test and if it came back possitive to do a full DNA panel for the 1300+ known Genes for CF.

I said that doesnt make sence if Garran(his brother) is DDF508 and Shawn only has one DF508 doesnt that mean that he is just a carrier. Then the Dr. said well if it comes back that he has a different Gene type as Garran it could be one of two options :

1. Either me or my husband actually has CF but a different variation and the other is a carrier and we just didnt know it because it is mild.

2. Shawn had a Spontaneous Mutation

Is this actually possible? A Spontaneous Mutation? We have a few months before the test is done. I was just curious what you all thought or if any one had ever heard of this before.

 

[JazzysMom]

I have heard of this. Someone on the forum at some point (that is real helpful huh? LOL) had a smiliar situation. This is definitely something for Steve from Ambry!

 

[JazzysMom]

I have heard of this. Someone on the forum at some point (that is real helpful huh? LOL) had a smiliar situation. This is definitely something for Steve from Ambry!

 

[JazzysMom]

I have heard of this. Someone on the forum at some point (that is real helpful huh? LOL) had a smiliar situation. This is definitely something for Steve from Ambry!

 

[JazzysMom]

I have heard of this. Someone on the forum at some point (that is real helpful huh? LOL) had a smiliar situation. This is definitely something for Steve from Ambry!

 

[JazzysMom]

I have heard of this. Someone on the forum at some point (that is real helpful huh? LOL) had a smiliar situation. This is definitely something for Steve from Ambry!

 

[JazzysMom]

I have heard of this. Someone on the forum at some point (that is real helpful huh? LOL) had a smiliar situation. This is definitely something for Steve from Ambry!

 

[vmhoward]

Thanks Mel,

I did do some searching on the site but honestly I just got tired of reading tons of posts, I have such a low attention span I might just be border line ADD. anyway, I hope I can get some kind of answer from someone.

I thought it was just plain wierd when his Dr. mentioned that. And I am not into that evolution stuff so the spontaneous mutation stuff just doesnt fit with me. I dont know. But I guess, it happens...Right? However the other option doesnt fit well with my thought process either..........

The question is, when would it have happened at brith before birth or sometime after birth? Cause Shawn never had any problems or pneumonias until after Garran was born. Not that that has anything to do with it, just a coincidence.

I am all about cooincidences. I find significance in so many things that many people overlook as nothing.

Anyway, thanks for responding!

 

[vmhoward]

Thanks Mel,

I did do some searching on the site but honestly I just got tired of reading tons of posts, I have such a low attention span I might just be border line ADD. anyway, I hope I can get some kind of answer from someone.

I thought it was just plain wierd when his Dr. mentioned that. And I am not into that evolution stuff so the spontaneous mutation stuff just doesnt fit with me. I dont know. But I guess, it happens...Right? However the other option doesnt fit well with my thought process either..........

The question is, when would it have happened at brith before birth or sometime after birth? Cause Shawn never had any problems or pneumonias until after Garran was born. Not that that has anything to do with it, just a coincidence.

I am all about cooincidences. I find significance in so many things that many people overlook as nothing.

Anyway, thanks for responding!

 

[vmhoward]

Thanks Mel,

I did do some searching on the site but honestly I just got tired of reading tons of posts, I have such a low attention span I might just be border line ADD. anyway, I hope I can get some kind of answer from someone.

I thought it was just plain wierd when his Dr. mentioned that. And I am not into that evolution stuff so the spontaneous mutation stuff just doesnt fit with me. I dont know. But I guess, it happens...Right? However the other option doesnt fit well with my thought process either..........

The question is, when would it have happened at brith before birth or sometime after birth? Cause Shawn never had any problems or pneumonias until after Garran was born. Not that that has anything to do with it, just a coincidence.

I am all about cooincidences. I find significance in so many things that many people overlook as nothing.

Anyway, thanks for responding!

 

[vmhoward]

Thanks Mel,

I did do some searching on the site but honestly I just got tired of reading tons of posts, I have such a low attention span I might just be border line ADD. anyway, I hope I can get some kind of answer from someone.

I thought it was just plain wierd when his Dr. mentioned that. And I am not into that evolution stuff so the spontaneous mutation stuff just doesnt fit with me. I dont know. But I guess, it happens...Right? However the other option doesnt fit well with my thought process either..........

The question is, when would it have happened at brith before birth or sometime after birth? Cause Shawn never had any problems or pneumonias until after Garran was born. Not that that has anything to do with it, just a coincidence.

I am all about cooincidences. I find significance in so many things that many people overlook as nothing.

Anyway, thanks for responding!

 

[vmhoward]

Thanks Mel,

I did do some searching on the site but honestly I just got tired of reading tons of posts, I have such a low attention span I might just be border line ADD. anyway, I hope I can get some kind of answer from someone.

I thought it was just plain wierd when his Dr. mentioned that. And I am not into that evolution stuff so the spontaneous mutation stuff just doesnt fit with me. I dont know. But I guess, it happens...Right? However the other option doesnt fit well with my thought process either..........

The question is, when would it have happened at brith before birth or sometime after birth? Cause Shawn never had any problems or pneumonias until after Garran was born. Not that that has anything to do with it, just a coincidence.

I am all about cooincidences. I find significance in so many things that many people overlook as nothing.

Anyway, thanks for responding!

 

[vmhoward]

Thanks Mel,

I did do some searching on the site but honestly I just got tired of reading tons of posts, I have such a low attention span I might just be border line ADD. anyway, I hope I can get some kind of answer from someone.

I thought it was just plain wierd when his Dr. mentioned that. And I am not into that evolution stuff so the spontaneous mutation stuff just doesnt fit with me. I dont know. But I guess, it happens...Right? However the other option doesnt fit well with my thought process either..........

The question is, when would it have happened at brith before birth or sometime after birth? Cause Shawn never had any problems or pneumonias until after Garran was born. Not that that has anything to do with it, just a coincidence.

I am all about cooincidences. I find significance in so many things that many people overlook as nothing.

Anyway, thanks for responding!

 

[okok]

Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. New mutations can arise at any time in the germ cells (the cells that make egg and sperm). Sequencing by ambry will detect them. The other possibility is that you or your husband has two CFTR mutations. It could be that this other mutation does not cause much disease in your husband or you but due to your son's genetics affects him much more severly. I'm really sorry to hear you are going through this!

 

[okok]

Yes it is possible...I am not steve but i am getting a pHd in molecular bio if that makes any difference to you. New mutations can arise at any time in the germ cells (the cells that make egg and sperm). Sequencing by ambry will detect them. The other possibility is that you or your husband has two CFTR mutations. It could be that this other mutation does not cause much disease in your husband or you but due to your son's genetics affects him much more severly. I'm really sorry to hear you are going through this!