Amniocentesis Confirms Two Mild Mutations Passed

[jeffjohn01]

(Originally posted in 'Newly Diagnosed' section)

Hello Everyone,

My wife Laura and I just found out today that our baby boy, due in April '09, has indeed been passed two mild mutations of the CF gene from us. This is all very new to us and I'm hoping I can get some answers on a few basic questions. We are scheduled for a follow-up visit with our genetic specialist in a week to ask any/all questions, but I can't wait that long and was hoping to get more information from this community.

I was told the mild mutations (S1235R/R668C) typically manifest themselves in some form of pancreatic insufficiency. However, before I even begin to learn how to prepare for treatment, I have some questions.

1). Does a diagnosis of two mild mutations being passed to our child guarantee he will have some form of CF?

2). I've read that mild mutations sometimes don't manifest as respiratory or pancreatic ailments, is this true?

3). Asthma, bronchitis and other 'non-CF' issues can be a result of mutated CF genes, true? So, my child may have respiratory issues that are NOT a form of CF per say?

4). Can anyone point me to a resource for statistics on my specific mutations? Also, can anyone tell me what the odds are for my boy, even with confirmed passing of two mild mutations, NOT to have any form of CF at all?

This will really help Laura and I better understand what it is we need to be prepared for come April.

Thank you very much and I apologize if these questions have been answered elsewhere in the forums. I'm new and have not had a chance to read/search all areas yet.

Jeff

 

[jeffjohn01]

(Originally posted in 'Newly Diagnosed' section)

Hello Everyone,

My wife Laura and I just found out today that our baby boy, due in April '09, has indeed been passed two mild mutations of the CF gene from us. This is all very new to us and I'm hoping I can get some answers on a few basic questions. We are scheduled for a follow-up visit with our genetic specialist in a week to ask any/all questions, but I can't wait that long and was hoping to get more information from this community.

I was told the mild mutations (S1235R/R668C) typically manifest themselves in some form of pancreatic insufficiency. However, before I even begin to learn how to prepare for treatment, I have some questions.

1). Does a diagnosis of two mild mutations being passed to our child guarantee he will have some form of CF?

2). I've read that mild mutations sometimes don't manifest as respiratory or pancreatic ailments, is this true?

3). Asthma, bronchitis and other 'non-CF' issues can be a result of mutated CF genes, true? So, my child may have respiratory issues that are NOT a form of CF per say?

4). Can anyone point me to a resource for statistics on my specific mutations? Also, can anyone tell me what the odds are for my boy, even with confirmed passing of two mild mutations, NOT to have any form of CF at all?

This will really help Laura and I better understand what it is we need to be prepared for come April.

Thank you very much and I apologize if these questions have been answered elsewhere in the forums. I'm new and have not had a chance to read/search all areas yet.

Jeff

 

[jeffjohn01]

(Originally posted in 'Newly Diagnosed' section)

Hello Everyone,

My wife Laura and I just found out today that our baby boy, due in April '09, has indeed been passed two mild mutations of the CF gene from us. This is all very new to us and I'm hoping I can get some answers on a few basic questions. We are scheduled for a follow-up visit with our genetic specialist in a week to ask any/all questions, but I can't wait that long and was hoping to get more information from this community.

I was told the mild mutations (S1235R/R668C) typically manifest themselves in some form of pancreatic insufficiency. However, before I even begin to learn how to prepare for treatment, I have some questions.

1). Does a diagnosis of two mild mutations being passed to our child guarantee he will have some form of CF?

2). I've read that mild mutations sometimes don't manifest as respiratory or pancreatic ailments, is this true?

3). Asthma, bronchitis and other 'non-CF' issues can be a result of mutated CF genes, true? So, my child may have respiratory issues that are NOT a form of CF per say?

4). Can anyone point me to a resource for statistics on my specific mutations? Also, can anyone tell me what the odds are for my boy, even with confirmed passing of two mild mutations, NOT to have any form of CF at all?

This will really help Laura and I better understand what it is we need to be prepared for come April.

Thank you very much and I apologize if these questions have been answered elsewhere in the forums. I'm new and have not had a chance to read/search all areas yet.

Jeff

 

[jeffjohn01]

(Originally posted in 'Newly Diagnosed' section)

Hello Everyone,

My wife Laura and I just found out today that our baby boy, due in April '09, has indeed been passed two mild mutations of the CF gene from us. This is all very new to us and I'm hoping I can get some answers on a few basic questions. We are scheduled for a follow-up visit with our genetic specialist in a week to ask any/all questions, but I can't wait that long and was hoping to get more information from this community.

I was told the mild mutations (S1235R/R668C) typically manifest themselves in some form of pancreatic insufficiency. However, before I even begin to learn how to prepare for treatment, I have some questions.

1). Does a diagnosis of two mild mutations being passed to our child guarantee he will have some form of CF?

2). I've read that mild mutations sometimes don't manifest as respiratory or pancreatic ailments, is this true?

3). Asthma, bronchitis and other 'non-CF' issues can be a result of mutated CF genes, true? So, my child may have respiratory issues that are NOT a form of CF per say?

4). Can anyone point me to a resource for statistics on my specific mutations? Also, can anyone tell me what the odds are for my boy, even with confirmed passing of two mild mutations, NOT to have any form of CF at all?

This will really help Laura and I better understand what it is we need to be prepared for come April.

Thank you very much and I apologize if these questions have been answered elsewhere in the forums. I'm new and have not had a chance to read/search all areas yet.

Jeff

 

[jeffjohn01]

(Originally posted in 'Newly Diagnosed' section)
<br />
<br />Hello Everyone,
<br />
<br />My wife Laura and I just found out today that our baby boy, due in April '09, has indeed been passed two mild mutations of the CF gene from us. This is all very new to us and I'm hoping I can get some answers on a few basic questions. We are scheduled for a follow-up visit with our genetic specialist in a week to ask any/all questions, but I can't wait that long and was hoping to get more information from this community.
<br />
<br />I was told the mild mutations (S1235R/R668C) typically manifest themselves in some form of pancreatic insufficiency. However, before I even begin to learn how to prepare for treatment, I have some questions.
<br />
<br />1). Does a diagnosis of two mild mutations being passed to our child guarantee he will have some form of CF?
<br />
<br />2). I've read that mild mutations sometimes don't manifest as respiratory or pancreatic ailments, is this true?
<br />
<br />3). Asthma, bronchitis and other 'non-CF' issues can be a result of mutated CF genes, true? So, my child may have respiratory issues that are NOT a form of CF per say?
<br />
<br />4). Can anyone point me to a resource for statistics on my specific mutations? Also, can anyone tell me what the odds are for my boy, even with confirmed passing of two mild mutations, NOT to have any form of CF at all?
<br />
<br />This will really help Laura and I better understand what it is we need to be prepared for come April.
<br />
<br />Thank you very much and I apologize if these questions have been answered elsewhere in the forums. I'm new and have not had a chance to read/search all areas yet.
<br />
<br />Jeff

 

[AnD]

Hello Jeff-

I'm sorry for why you are here, but I'm glad you found us. This is a great place for support.

There is a thread at the very top of the Families section called Ambry Genetics- you can ask Steve there all your genetics questions- he is great about getting info to us.

All I can tell you to expect is for your son (congrats, btw!) to follow his own "curve". There is no 100% guarantee about which mutations cause which symptoms, only tendancies. For (one small) example, I have the most common mutation (Df508- 2 copies) but had no lung issues until I was 16 years old, and had no weight issues. Now I am 37 years old and about 10-15 lbs overweight. Not exactly the "norm" for my mutations <img src="i/expressions/face-icon-small-wink.gif" border="0"> .

I'm sure that other parents of cf patients will be able to help you more!

 

[AnD]

Hello Jeff-

I'm sorry for why you are here, but I'm glad you found us. This is a great place for support.

There is a thread at the very top of the Families section called Ambry Genetics- you can ask Steve there all your genetics questions- he is great about getting info to us.

All I can tell you to expect is for your son (congrats, btw!) to follow his own "curve". There is no 100% guarantee about which mutations cause which symptoms, only tendancies. For (one small) example, I have the most common mutation (Df508- 2 copies) but had no lung issues until I was 16 years old, and had no weight issues. Now I am 37 years old and about 10-15 lbs overweight. Not exactly the "norm" for my mutations <img src="i/expressions/face-icon-small-wink.gif" border="0"> .

I'm sure that other parents of cf patients will be able to help you more!

 

[AnD]

Hello Jeff-

I'm sorry for why you are here, but I'm glad you found us. This is a great place for support.

There is a thread at the very top of the Families section called Ambry Genetics- you can ask Steve there all your genetics questions- he is great about getting info to us.

All I can tell you to expect is for your son (congrats, btw!) to follow his own "curve". There is no 100% guarantee about which mutations cause which symptoms, only tendancies. For (one small) example, I have the most common mutation (Df508- 2 copies) but had no lung issues until I was 16 years old, and had no weight issues. Now I am 37 years old and about 10-15 lbs overweight. Not exactly the "norm" for my mutations <img src="i/expressions/face-icon-small-wink.gif" border="0"> .

I'm sure that other parents of cf patients will be able to help you more!

 

[AnD]

Hello Jeff-

I'm sorry for why you are here, but I'm glad you found us. This is a great place for support.

There is a thread at the very top of the Families section called Ambry Genetics- you can ask Steve there all your genetics questions- he is great about getting info to us.

All I can tell you to expect is for your son (congrats, btw!) to follow his own "curve". There is no 100% guarantee about which mutations cause which symptoms, only tendancies. For (one small) example, I have the most common mutation (Df508- 2 copies) but had no lung issues until I was 16 years old, and had no weight issues. Now I am 37 years old and about 10-15 lbs overweight. Not exactly the "norm" for my mutations <img src="i/expressions/face-icon-small-wink.gif" border="0"> .

I'm sure that other parents of cf patients will be able to help you more!

 

[AnD]

Hello Jeff-
<br />
<br />I'm sorry for why you are here, but I'm glad you found us. This is a great place for support.
<br />
<br />There is a thread at the very top of the Families section called Ambry Genetics- you can ask Steve there all your genetics questions- he is great about getting info to us.
<br />
<br />All I can tell you to expect is for your son (congrats, btw!) to follow his own "curve". There is no 100% guarantee about which mutations cause which symptoms, only tendancies. For (one small) example, I have the most common mutation (Df508- 2 copies) but had no lung issues until I was 16 years old, and had no weight issues. Now I am 37 years old and about 10-15 lbs overweight. Not exactly the "norm" for my mutations <img src="i/expressions/face-icon-small-wink.gif" border="0"> .
<br />
<br />I'm sure that other parents of cf patients will be able to help you more!
<br />
<br />

 

[zeeannie]

I can't answer all the questions, but I can tell you what I do know.
Having two genes for CF means you have CF. Whether or not you have symptoms could go either way, and to any possible degree of severity, or combination of symptoms. They can only give you a general idea regarding what usually happens with any particular combination of genes. It really is almost like fingerprints. Everyone's CF is different. As for non-CF related respiratory issues, yes you can get all the usual bugs that everyone else gets, the reason it can be worse for people with CF is due to the inability to move the infection up and out of the lungs due to the sticky mucus.
Check out cff.org for more answers, they have a nice selection of articles that explains the many facets of CF.
Congratulations on the baby, and don't worry, you'll be an expert by April! Keep in touch on the forum as questions come up. Also check out the chat room.

 

[zeeannie]

I can't answer all the questions, but I can tell you what I do know.
Having two genes for CF means you have CF. Whether or not you have symptoms could go either way, and to any possible degree of severity, or combination of symptoms. They can only give you a general idea regarding what usually happens with any particular combination of genes. It really is almost like fingerprints. Everyone's CF is different. As for non-CF related respiratory issues, yes you can get all the usual bugs that everyone else gets, the reason it can be worse for people with CF is due to the inability to move the infection up and out of the lungs due to the sticky mucus.
Check out cff.org for more answers, they have a nice selection of articles that explains the many facets of CF.
Congratulations on the baby, and don't worry, you'll be an expert by April! Keep in touch on the forum as questions come up. Also check out the chat room.

 

[zeeannie]

I can't answer all the questions, but I can tell you what I do know.
Having two genes for CF means you have CF. Whether or not you have symptoms could go either way, and to any possible degree of severity, or combination of symptoms. They can only give you a general idea regarding what usually happens with any particular combination of genes. It really is almost like fingerprints. Everyone's CF is different. As for non-CF related respiratory issues, yes you can get all the usual bugs that everyone else gets, the reason it can be worse for people with CF is due to the inability to move the infection up and out of the lungs due to the sticky mucus.
Check out cff.org for more answers, they have a nice selection of articles that explains the many facets of CF.
Congratulations on the baby, and don't worry, you'll be an expert by April! Keep in touch on the forum as questions come up. Also check out the chat room.

 

[zeeannie]

I can't answer all the questions, but I can tell you what I do know.
Having two genes for CF means you have CF. Whether or not you have symptoms could go either way, and to any possible degree of severity, or combination of symptoms. They can only give you a general idea regarding what usually happens with any particular combination of genes. It really is almost like fingerprints. Everyone's CF is different. As for non-CF related respiratory issues, yes you can get all the usual bugs that everyone else gets, the reason it can be worse for people with CF is due to the inability to move the infection up and out of the lungs due to the sticky mucus.
Check out cff.org for more answers, they have a nice selection of articles that explains the many facets of CF.
Congratulations on the baby, and don't worry, you'll be an expert by April! Keep in touch on the forum as questions come up. Also check out the chat room.

 

[zeeannie]

I can't answer all the questions, but I can tell you what I do know.
<br />Having two genes for CF means you have CF. Whether or not you have symptoms could go either way, and to any possible degree of severity, or combination of symptoms. They can only give you a general idea regarding what usually happens with any particular combination of genes. It really is almost like fingerprints. Everyone's CF is different. As for non-CF related respiratory issues, yes you can get all the usual bugs that everyone else gets, the reason it can be worse for people with CF is due to the inability to move the infection up and out of the lungs due to the sticky mucus.
<br />Check out cff.org for more answers, they have a nice selection of articles that explains the many facets of CF.
<br />Congratulations on the baby, and don't worry, you'll be an expert by April! Keep in touch on the forum as questions come up. Also check out the chat room.