Mild mutation and childwish

[Saskiaatje]

My 2 years old daughter doesn't grow so well. They did all kind of test for CF. Untill now, they only found one mutation, the DF 508. Last week they did a biopt intestine and yesterday they told us that there was not much cftr-protein, but wat there was had a almost normal function. The docter told us that she thinks she has a mild mutation of CF that gives her the chance to become 60-70 years. To be 100% sure, we have to wait for the second mutation.

We have a big childwish. I'm 33 and my husband is 38 and we have had 4 miscarriages. We do not want to wait to long with becoming pregnant because of that. My question is: if we get another child with CF that will be having the same 2 mutations, will that automaticly mean that it had a mild mutation also? Or can it be that the same mutations become a more classic type of cf?

 

[Saskiaatje]

My 2 years old daughter doesn't grow so well. They did all kind of test for CF. Untill now, they only found one mutation, the DF 508. Last week they did a biopt intestine and yesterday they told us that there was not much cftr-protein, but wat there was had a almost normal function. The docter told us that she thinks she has a mild mutation of CF that gives her the chance to become 60-70 years. To be 100% sure, we have to wait for the second mutation.

We have a big childwish. I'm 33 and my husband is 38 and we have had 4 miscarriages. We do not want to wait to long with becoming pregnant because of that. My question is: if we get another child with CF that will be having the same 2 mutations, will that automaticly mean that it had a mild mutation also? Or can it be that the same mutations become a more classic type of cf?

 

[Saskiaatje]

My 2 years old daughter doesn't grow so well. They did all kind of test for CF. Untill now, they only found one mutation, the DF 508. Last week they did a biopt intestine and yesterday they told us that there was not much cftr-protein, but wat there was had a almost normal function. The docter told us that she thinks she has a mild mutation of CF that gives her the chance to become 60-70 years. To be 100% sure, we have to wait for the second mutation.

We have a big childwish. I'm 33 and my husband is 38 and we have had 4 miscarriages. We do not want to wait to long with becoming pregnant because of that. My question is: if we get another child with CF that will be having the same 2 mutations, will that automaticly mean that it had a mild mutation also? Or can it be that the same mutations become a more classic type of cf?

 

[Saskiaatje]

My 2 years old daughter doesn't grow so well. They did all kind of test for CF. Untill now, they only found one mutation, the DF 508. Last week they did a biopt intestine and yesterday they told us that there was not much cftr-protein, but wat there was had a almost normal function. The docter told us that she thinks she has a mild mutation of CF that gives her the chance to become 60-70 years. To be 100% sure, we have to wait for the second mutation.

We have a big childwish. I'm 33 and my husband is 38 and we have had 4 miscarriages. We do not want to wait to long with becoming pregnant because of that. My question is: if we get another child with CF that will be having the same 2 mutations, will that automaticly mean that it had a mild mutation also? Or can it be that the same mutations become a more classic type of cf?

 

[Saskiaatje]

My 2 years old daughter doesn't grow so well. They did all kind of test for CF. Untill now, they only found one mutation, the DF 508. Last week they did a biopt intestine and yesterday they told us that there was not much cftr-protein, but wat there was had a almost normal function. The docter told us that she thinks she has a mild mutation of CF that gives her the chance to become 60-70 years. To be 100% sure, we have to wait for the second mutation.
<br />
<br />We have a big childwish. I'm 33 and my husband is 38 and we have had 4 miscarriages. We do not want to wait to long with becoming pregnant because of that. My question is: if we get another child with CF that will be having the same 2 mutations, will that automaticly mean that it had a mild mutation also? Or can it be that the same mutations become a more classic type of cf?

 

[JazzysMom]

IF you have another child.....you will be in the same situation you are now. Knowing that one gene is the DF508, but looking for the other.

BTW there is officially no such thing as "Mild" mutations. There has been documentation of what characteristics (lung issues, sinus issues, digestive etc) are linked to different mutations, but that can be altered when the 2 genes a CFer has are not the same.

NO matter what mutations......CF is progressive so even if someone starts out "mild". At some point in their life things will progress. You also cant guarantee that siblings will have the same outcome just because they have the same mutations.

We have quite a few members who have 2 or more children with CF (same mutations, same compliance, same environment, same doctor etc), but their health status are not the same. Luck plays a huge part in the whole equation!

Good Luck!

 

[JazzysMom]

IF you have another child.....you will be in the same situation you are now. Knowing that one gene is the DF508, but looking for the other.

BTW there is officially no such thing as "Mild" mutations. There has been documentation of what characteristics (lung issues, sinus issues, digestive etc) are linked to different mutations, but that can be altered when the 2 genes a CFer has are not the same.

NO matter what mutations......CF is progressive so even if someone starts out "mild". At some point in their life things will progress. You also cant guarantee that siblings will have the same outcome just because they have the same mutations.

We have quite a few members who have 2 or more children with CF (same mutations, same compliance, same environment, same doctor etc), but their health status are not the same. Luck plays a huge part in the whole equation!

Good Luck!

 

[JazzysMom]

IF you have another child.....you will be in the same situation you are now. Knowing that one gene is the DF508, but looking for the other.

BTW there is officially no such thing as "Mild" mutations. There has been documentation of what characteristics (lung issues, sinus issues, digestive etc) are linked to different mutations, but that can be altered when the 2 genes a CFer has are not the same.

NO matter what mutations......CF is progressive so even if someone starts out "mild". At some point in their life things will progress. You also cant guarantee that siblings will have the same outcome just because they have the same mutations.

We have quite a few members who have 2 or more children with CF (same mutations, same compliance, same environment, same doctor etc), but their health status are not the same. Luck plays a huge part in the whole equation!

Good Luck!

 

[JazzysMom]

IF you have another child.....you will be in the same situation you are now. Knowing that one gene is the DF508, but looking for the other.

BTW there is officially no such thing as "Mild" mutations. There has been documentation of what characteristics (lung issues, sinus issues, digestive etc) are linked to different mutations, but that can be altered when the 2 genes a CFer has are not the same.

NO matter what mutations......CF is progressive so even if someone starts out "mild". At some point in their life things will progress. You also cant guarantee that siblings will have the same outcome just because they have the same mutations.

We have quite a few members who have 2 or more children with CF (same mutations, same compliance, same environment, same doctor etc), but their health status are not the same. Luck plays a huge part in the whole equation!

Good Luck!

 

[JazzysMom]

IF you have another child.....you will be in the same situation you are now. Knowing that one gene is the DF508, but looking for the other.
<br />
<br />BTW there is officially no such thing as "Mild" mutations. There has been documentation of what characteristics (lung issues, sinus issues, digestive etc) are linked to different mutations, but that can be altered when the 2 genes a CFer has are not the same.
<br />
<br />NO matter what mutations......CF is progressive so even if someone starts out "mild". At some point in their life things will progress. You also cant guarantee that siblings will have the same outcome just because they have the same mutations.
<br />
<br />We have quite a few members who have 2 or more children with CF (same mutations, same compliance, same environment, same doctor etc), but their health status are not the same. Luck plays a huge part in the whole equation!
<br />
<br />Good Luck!

 

[Alyssa]

If your child does indeed have a 2nd mutation that means that you and your husband would each have one CF mutation. One of you have the "undiscovered" gene and the other has the DF508. So you would have the same odds or chances as every other carrier couple.... 1 in 4 chance of both genes coming together again (or said a different way 25% chance)

I don't think I have ever disagreed with Melissa before.... but here goes the term Mild Gene, I believe does exist... there are 5 categories of gene classification, the last two IV & V have very much so been referred to by our doctor at the Seattle CF research center as Mild Gene Mutations - I can try and find some links or technical lingo to back that up if anyone is interested, but <b>I think the term and general idea does exist</b>... however, as Melissa has pointed out, the guarantee of Mild does not.

You can read my blog for more details about my kids and their heath - cases like theirs do exist, but they are a minority not a majority.

Best wishes, please keep us updated - will they be doing any more testing? or are they going to proceed with treating her "as if she has CF" ?

 

[Alyssa]

If your child does indeed have a 2nd mutation that means that you and your husband would each have one CF mutation. One of you have the "undiscovered" gene and the other has the DF508. So you would have the same odds or chances as every other carrier couple.... 1 in 4 chance of both genes coming together again (or said a different way 25% chance)

I don't think I have ever disagreed with Melissa before.... but here goes the term Mild Gene, I believe does exist... there are 5 categories of gene classification, the last two IV & V have very much so been referred to by our doctor at the Seattle CF research center as Mild Gene Mutations - I can try and find some links or technical lingo to back that up if anyone is interested, but <b>I think the term and general idea does exist</b>... however, as Melissa has pointed out, the guarantee of Mild does not.

You can read my blog for more details about my kids and their heath - cases like theirs do exist, but they are a minority not a majority.

Best wishes, please keep us updated - will they be doing any more testing? or are they going to proceed with treating her "as if she has CF" ?

 

[Alyssa]

If your child does indeed have a 2nd mutation that means that you and your husband would each have one CF mutation. One of you have the "undiscovered" gene and the other has the DF508. So you would have the same odds or chances as every other carrier couple.... 1 in 4 chance of both genes coming together again (or said a different way 25% chance)

I don't think I have ever disagreed with Melissa before.... but here goes the term Mild Gene, I believe does exist... there are 5 categories of gene classification, the last two IV & V have very much so been referred to by our doctor at the Seattle CF research center as Mild Gene Mutations - I can try and find some links or technical lingo to back that up if anyone is interested, but <b>I think the term and general idea does exist</b>... however, as Melissa has pointed out, the guarantee of Mild does not.

You can read my blog for more details about my kids and their heath - cases like theirs do exist, but they are a minority not a majority.

Best wishes, please keep us updated - will they be doing any more testing? or are they going to proceed with treating her "as if she has CF" ?

 

[Alyssa]

If your child does indeed have a 2nd mutation that means that you and your husband would each have one CF mutation. One of you have the "undiscovered" gene and the other has the DF508. So you would have the same odds or chances as every other carrier couple.... 1 in 4 chance of both genes coming together again (or said a different way 25% chance)

I don't think I have ever disagreed with Melissa before.... but here goes the term Mild Gene, I believe does exist... there are 5 categories of gene classification, the last two IV & V have very much so been referred to by our doctor at the Seattle CF research center as Mild Gene Mutations - I can try and find some links or technical lingo to back that up if anyone is interested, but <b>I think the term and general idea does exist</b>... however, as Melissa has pointed out, the guarantee of Mild does not.

You can read my blog for more details about my kids and their heath - cases like theirs do exist, but they are a minority not a majority.

Best wishes, please keep us updated - will they be doing any more testing? or are they going to proceed with treating her "as if she has CF" ?

 

[Alyssa]

If your child does indeed have a 2nd mutation that means that you and your husband would each have one CF mutation. One of you have the "undiscovered" gene and the other has the DF508. So you would have the same odds or chances as every other carrier couple.... 1 in 4 chance of both genes coming together again (or said a different way 25% chance)
<br />
<br />I don't think I have ever disagreed with Melissa before.... but here goes the term Mild Gene, I believe does exist... there are 5 categories of gene classification, the last two IV & V have very much so been referred to by our doctor at the Seattle CF research center as Mild Gene Mutations - I can try and find some links or technical lingo to back that up if anyone is interested, but <b>I think the term and general idea does exist</b>... however, as Melissa has pointed out, the guarantee of Mild does not.
<br />
<br />You can read my blog for more details about my kids and their heath - cases like theirs do exist, but they are a minority not a majority.
<br />
<br />Best wishes, please keep us updated - will they be doing any more testing? or are they going to proceed with treating her "as if she has CF" ?

 

[Saskiaatje]

Hi Melissa and Alyssa, thank you both for your quick reply. My English is not the best, so I will try to explain what happend and what my Dutch doctors said.

My daughter wasn't growing as she had to. She is now almost 2 years old and is 80 cm lenght and wheigts 9400 grams. They did a sweattest which came back 49. Then they did the full DNA-testing. They tested 40 mutations first and it came back with one mutation DF 508. Now they are doing a sequention analyse and this can take untill june they told us. Because that is very long and they did suspect CF, they did more diagnostic tests. First, they did a second sweattest in another hospital. It came back 33 and natriumchloride 15. Then they did al biopt in her intestine and that showed that the cftr-protein wasn't much, but what was there had a almost normal function. The doctor explained to us that there are 1 possible things:

1. She has CF but a very mild form and her prognoses are somewhere between 50-70 years and not much problem during life.
2. She has not CF and the symptoms and not real normal results of sweattest and biopt are because of the one defect gene df 508.

So that is what the CF-lungspecialist and the childdoctor here in the Netherlands told me. I do think I can trust what they say, or don't I? They are from an special CF team in an acadamic hospital. I don't think they would tell me such positive things as it isn't true?

What I am really curious about is the fact that if we get another child with CF, which is 25% I know, would that be the exact same mild mutation, or could it be different? My husband and I really want to have more kids en because of 4 miscariages we are not planning to do some test before birh if the chance that another child has the same mild form which we think you can have a very good life with!

 

[Saskiaatje]

Hi Melissa and Alyssa, thank you both for your quick reply. My English is not the best, so I will try to explain what happend and what my Dutch doctors said.

My daughter wasn't growing as she had to. She is now almost 2 years old and is 80 cm lenght and wheigts 9400 grams. They did a sweattest which came back 49. Then they did the full DNA-testing. They tested 40 mutations first and it came back with one mutation DF 508. Now they are doing a sequention analyse and this can take untill june they told us. Because that is very long and they did suspect CF, they did more diagnostic tests. First, they did a second sweattest in another hospital. It came back 33 and natriumchloride 15. Then they did al biopt in her intestine and that showed that the cftr-protein wasn't much, but what was there had a almost normal function. The doctor explained to us that there are 1 possible things:

1. She has CF but a very mild form and her prognoses are somewhere between 50-70 years and not much problem during life.
2. She has not CF and the symptoms and not real normal results of sweattest and biopt are because of the one defect gene df 508.

So that is what the CF-lungspecialist and the childdoctor here in the Netherlands told me. I do think I can trust what they say, or don't I? They are from an special CF team in an acadamic hospital. I don't think they would tell me such positive things as it isn't true?

What I am really curious about is the fact that if we get another child with CF, which is 25% I know, would that be the exact same mild mutation, or could it be different? My husband and I really want to have more kids en because of 4 miscariages we are not planning to do some test before birh if the chance that another child has the same mild form which we think you can have a very good life with!

 

[Saskiaatje]

Hi Melissa and Alyssa, thank you both for your quick reply. My English is not the best, so I will try to explain what happend and what my Dutch doctors said.

My daughter wasn't growing as she had to. She is now almost 2 years old and is 80 cm lenght and wheigts 9400 grams. They did a sweattest which came back 49. Then they did the full DNA-testing. They tested 40 mutations first and it came back with one mutation DF 508. Now they are doing a sequention analyse and this can take untill june they told us. Because that is very long and they did suspect CF, they did more diagnostic tests. First, they did a second sweattest in another hospital. It came back 33 and natriumchloride 15. Then they did al biopt in her intestine and that showed that the cftr-protein wasn't much, but what was there had a almost normal function. The doctor explained to us that there are 1 possible things:

1. She has CF but a very mild form and her prognoses are somewhere between 50-70 years and not much problem during life.
2. She has not CF and the symptoms and not real normal results of sweattest and biopt are because of the one defect gene df 508.

So that is what the CF-lungspecialist and the childdoctor here in the Netherlands told me. I do think I can trust what they say, or don't I? They are from an special CF team in an acadamic hospital. I don't think they would tell me such positive things as it isn't true?

What I am really curious about is the fact that if we get another child with CF, which is 25% I know, would that be the exact same mild mutation, or could it be different? My husband and I really want to have more kids en because of 4 miscariages we are not planning to do some test before birh if the chance that another child has the same mild form which we think you can have a very good life with!

 

[Saskiaatje]

Hi Melissa and Alyssa, thank you both for your quick reply. My English is not the best, so I will try to explain what happend and what my Dutch doctors said.

My daughter wasn't growing as she had to. She is now almost 2 years old and is 80 cm lenght and wheigts 9400 grams. They did a sweattest which came back 49. Then they did the full DNA-testing. They tested 40 mutations first and it came back with one mutation DF 508. Now they are doing a sequention analyse and this can take untill june they told us. Because that is very long and they did suspect CF, they did more diagnostic tests. First, they did a second sweattest in another hospital. It came back 33 and natriumchloride 15. Then they did al biopt in her intestine and that showed that the cftr-protein wasn't much, but what was there had a almost normal function. The doctor explained to us that there are 1 possible things:

1. She has CF but a very mild form and her prognoses are somewhere between 50-70 years and not much problem during life.
2. She has not CF and the symptoms and not real normal results of sweattest and biopt are because of the one defect gene df 508.

So that is what the CF-lungspecialist and the childdoctor here in the Netherlands told me. I do think I can trust what they say, or don't I? They are from an special CF team in an acadamic hospital. I don't think they would tell me such positive things as it isn't true?

What I am really curious about is the fact that if we get another child with CF, which is 25% I know, would that be the exact same mild mutation, or could it be different? My husband and I really want to have more kids en because of 4 miscariages we are not planning to do some test before birh if the chance that another child has the same mild form which we think you can have a very good life with!

 

[Saskiaatje]

Hi Melissa and Alyssa, thank you both for your quick reply. My English is not the best, so I will try to explain what happend and what my Dutch doctors said.
<br />
<br />My daughter wasn't growing as she had to. She is now almost 2 years old and is 80 cm lenght and wheigts 9400 grams. They did a sweattest which came back 49. Then they did the full DNA-testing. They tested 40 mutations first and it came back with one mutation DF 508. Now they are doing a sequention analyse and this can take untill june they told us. Because that is very long and they did suspect CF, they did more diagnostic tests. First, they did a second sweattest in another hospital. It came back 33 and natriumchloride 15. Then they did al biopt in her intestine and that showed that the cftr-protein wasn't much, but what was there had a almost normal function. The doctor explained to us that there are 1 possible things:
<br />
<br />1. She has CF but a very mild form and her prognoses are somewhere between 50-70 years and not much problem during life.
<br />2. She has not CF and the symptoms and not real normal results of sweattest and biopt are because of the one defect gene df 508.
<br />
<br />So that is what the CF-lungspecialist and the childdoctor here in the Netherlands told me. I do think I can trust what they say, or don't I? They are from an special CF team in an acadamic hospital. I don't think they would tell me such positive things as it isn't true?
<br />
<br />What I am really curious about is the fact that if we get another child with CF, which is 25% I know, would that be the exact same mild mutation, or could it be different? My husband and I really want to have more kids en because of 4 miscariages we are not planning to do some test before birh if the chance that another child has the same mild form which we think you can have a very good life with!