Amniocentesis Confirms Two Mild Mutations

[jeffjohn01]

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]

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]

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]

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]

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

 

[kaylasdad]

Hi Jeff,
You can go to The family section and go to the top blog that says Welcome Ambry Genetics. Steven Keiles Can answer your questions.

 

[kaylasdad]

Hi Jeff,
You can go to The family section and go to the top blog that says Welcome Ambry Genetics. Steven Keiles Can answer your questions.

 

[kaylasdad]

Hi Jeff,
You can go to The family section and go to the top blog that says Welcome Ambry Genetics. Steven Keiles Can answer your questions.

 

[kaylasdad]

Hi Jeff,
You can go to The family section and go to the top blog that says Welcome Ambry Genetics. Steven Keiles Can answer your questions.

 

[kaylasdad]

Hi Jeff,
<br />You can go to The family section and go to the top blog that says Welcome Ambry Genetics. Steven Keiles Can answer your questions.

 

[just1more]

Let me see what I can do:

1) By definition, 2 mutations = CF; most likely if the are less-common then the diagnosis is atypical CF (cf but doesn't present as classic CF)

2) Every CF case presents differently, and nobody can forecast how. Even the same pair of mutations can present differently, however, there are some 'trends'. But yes, there are cf patients with relatively good lungs, and those with little to no GI involvement.

3) you may see some of these issues, but ultimately the diagnosis is CF (sorry)

4) Steven Kiles with Ambry is an excellent resource. You can reach him via the top post in the 'families' forum on this site.

Ultimately, while I hate to see a new member for obvious reasons, you are asking great questions and welcome to the site. You will find many great people here and a great support resource.

You are already doing the best thing possible, learning & ASKING QUESTIONS.

Feel free to ask any you wish, nothing is too dumb or abnormal on this site.

 

[just1more]

Let me see what I can do:

1) By definition, 2 mutations = CF; most likely if the are less-common then the diagnosis is atypical CF (cf but doesn't present as classic CF)

2) Every CF case presents differently, and nobody can forecast how. Even the same pair of mutations can present differently, however, there are some 'trends'. But yes, there are cf patients with relatively good lungs, and those with little to no GI involvement.

3) you may see some of these issues, but ultimately the diagnosis is CF (sorry)

4) Steven Kiles with Ambry is an excellent resource. You can reach him via the top post in the 'families' forum on this site.

Ultimately, while I hate to see a new member for obvious reasons, you are asking great questions and welcome to the site. You will find many great people here and a great support resource.

You are already doing the best thing possible, learning & ASKING QUESTIONS.

Feel free to ask any you wish, nothing is too dumb or abnormal on this site.

 

[just1more]

Let me see what I can do:

1) By definition, 2 mutations = CF; most likely if the are less-common then the diagnosis is atypical CF (cf but doesn't present as classic CF)

2) Every CF case presents differently, and nobody can forecast how. Even the same pair of mutations can present differently, however, there are some 'trends'. But yes, there are cf patients with relatively good lungs, and those with little to no GI involvement.

3) you may see some of these issues, but ultimately the diagnosis is CF (sorry)

4) Steven Kiles with Ambry is an excellent resource. You can reach him via the top post in the 'families' forum on this site.

Ultimately, while I hate to see a new member for obvious reasons, you are asking great questions and welcome to the site. You will find many great people here and a great support resource.

You are already doing the best thing possible, learning & ASKING QUESTIONS.

Feel free to ask any you wish, nothing is too dumb or abnormal on this site.

 

[just1more]

Let me see what I can do:

1) By definition, 2 mutations = CF; most likely if the are less-common then the diagnosis is atypical CF (cf but doesn't present as classic CF)

2) Every CF case presents differently, and nobody can forecast how. Even the same pair of mutations can present differently, however, there are some 'trends'. But yes, there are cf patients with relatively good lungs, and those with little to no GI involvement.

3) you may see some of these issues, but ultimately the diagnosis is CF (sorry)

4) Steven Kiles with Ambry is an excellent resource. You can reach him via the top post in the 'families' forum on this site.

Ultimately, while I hate to see a new member for obvious reasons, you are asking great questions and welcome to the site. You will find many great people here and a great support resource.

You are already doing the best thing possible, learning & ASKING QUESTIONS.

Feel free to ask any you wish, nothing is too dumb or abnormal on this site.

 

[just1more]

Let me see what I can do:
<br />
<br />1) By definition, 2 mutations = CF; most likely if the are less-common then the diagnosis is atypical CF (cf but doesn't present as classic CF)
<br />
<br />2) Every CF case presents differently, and nobody can forecast how. Even the same pair of mutations can present differently, however, there are some 'trends'. But yes, there are cf patients with relatively good lungs, and those with little to no GI involvement.
<br />
<br />3) you may see some of these issues, but ultimately the diagnosis is CF (sorry)
<br />
<br />4) Steven Kiles with Ambry is an excellent resource. You can reach him via the top post in the 'families' forum on this site.
<br />
<br />Ultimately, while I hate to see a new member for obvious reasons, you are asking great questions and welcome to the site. You will find many great people here and a great support resource.
<br />
<br />You are already doing the best thing possible, learning & ASKING QUESTIONS.
<br />
<br />Feel free to ask any you wish, nothing is too dumb or abnormal on this site.

 

[Chilemom]

dear jeff and laura:
yes your baby boy has Cf, i don´t know that exact mutations, but what i have learn so far is that the gen can predict 25% of the futere, other 25% depends in the care you give to your boy (and if you already know about CF you have start with the right foot in this quarter), 25% in other gens call the modifier gens that are not exactly known but like every people our gens says how healthy we will be , how tall, etc.. And the last 25% is luck.
please ask everything that cross your mind, and don´t worry ther are not silly questions.
I am also pregnant and my baby could have or not cf (i already have a two years old girl with cf) and even thou she has a clasic form of Cf , we are doing grate.
good luck, and welcome

 

[Chilemom]

dear jeff and laura:
yes your baby boy has Cf, i don´t know that exact mutations, but what i have learn so far is that the gen can predict 25% of the futere, other 25% depends in the care you give to your boy (and if you already know about CF you have start with the right foot in this quarter), 25% in other gens call the modifier gens that are not exactly known but like every people our gens says how healthy we will be , how tall, etc.. And the last 25% is luck.
please ask everything that cross your mind, and don´t worry ther are not silly questions.
I am also pregnant and my baby could have or not cf (i already have a two years old girl with cf) and even thou she has a clasic form of Cf , we are doing grate.
good luck, and welcome

 

[Chilemom]

dear jeff and laura:
yes your baby boy has Cf, i don´t know that exact mutations, but what i have learn so far is that the gen can predict 25% of the futere, other 25% depends in the care you give to your boy (and if you already know about CF you have start with the right foot in this quarter), 25% in other gens call the modifier gens that are not exactly known but like every people our gens says how healthy we will be , how tall, etc.. And the last 25% is luck.
please ask everything that cross your mind, and don´t worry ther are not silly questions.
I am also pregnant and my baby could have or not cf (i already have a two years old girl with cf) and even thou she has a clasic form of Cf , we are doing grate.
good luck, and welcome

 

[Chilemom]

dear jeff and laura:
yes your baby boy has Cf, i don´t know that exact mutations, but what i have learn so far is that the gen can predict 25% of the futere, other 25% depends in the care you give to your boy (and if you already know about CF you have start with the right foot in this quarter), 25% in other gens call the modifier gens that are not exactly known but like every people our gens says how healthy we will be , how tall, etc.. And the last 25% is luck.
please ask everything that cross your mind, and don´t worry ther are not silly questions.
I am also pregnant and my baby could have or not cf (i already have a two years old girl with cf) and even thou she has a clasic form of Cf , we are doing grate.
good luck, and welcome

 

[Chilemom]

dear jeff and laura:
<br />yes your baby boy has Cf, i don´t know that exact mutations, but what i have learn so far is that the gen can predict 25% of the futere, other 25% depends in the care you give to your boy (and if you already know about CF you have start with the right foot in this quarter), 25% in other gens call the modifier gens that are not exactly known but like every people our gens says how healthy we will be , how tall, etc.. And the last 25% is luck.
<br />please ask everything that cross your mind, and don´t worry ther are not silly questions.
<br />I am also pregnant and my baby could have or not cf (i already have a two years old girl with cf) and even thou she has a clasic form of Cf , we are doing grate.
<br />good luck, and welcome