Mild mutation and childwish

JazzysMom · Jan 15, 2009

I am not saying what the doctors told you cant happen. It just cant be considered ABSOLUTE. If you approach it with their words as a guarantee & things go bad....you will be highly upset!

As to another child & the genes:

Since right now they only found the df508 in your daughter, you know that there is a chance your other child will also get the same gene. I would consider your daughter a carrier at this point.

The question is...IS there another gene not yet found for your daughter. IF that is the case.....then there are 2 genes that must be looked for in any additional children. There is a chance as you know....that even if 2 genes are found (1 being from you, 1 being from your husband), that each child is ONLY a carrier & not have CF itself.

There is some documentation that shows carriers can show certain symptoms as if they actually have CF.

Did I explain things better?

IF not keeping asking. We will get it explained <img src="i/expressions/face-icon-small-tongue.gif" border="0">

JazzysMom · Jan 15, 2009

I am not saying what the doctors told you cant happen. It just cant be considered ABSOLUTE. If you approach it with their words as a guarantee & things go bad....you will be highly upset!

As to another child & the genes:

Since right now they only found the df508 in your daughter, you know that there is a chance your other child will also get the same gene. I would consider your daughter a carrier at this point.

The question is...IS there another gene not yet found for your daughter. IF that is the case.....then there are 2 genes that must be looked for in any additional children. There is a chance as you know....that even if 2 genes are found (1 being from you, 1 being from your husband), that each child is ONLY a carrier & not have CF itself.

There is some documentation that shows carriers can show certain symptoms as if they actually have CF.

Did I explain things better?

IF not keeping asking. We will get it explained <img src="i/expressions/face-icon-small-tongue.gif" border="0">

JazzysMom · Jan 15, 2009

I am not saying what the doctors told you cant happen. It just cant be considered ABSOLUTE. If you approach it with their words as a guarantee & things go bad....you will be highly upset!

As to another child & the genes:

Since right now they only found the df508 in your daughter, you know that there is a chance your other child will also get the same gene. I would consider your daughter a carrier at this point.

The question is...IS there another gene not yet found for your daughter. IF that is the case.....then there are 2 genes that must be looked for in any additional children. There is a chance as you know....that even if 2 genes are found (1 being from you, 1 being from your husband), that each child is ONLY a carrier & not have CF itself.

There is some documentation that shows carriers can show certain symptoms as if they actually have CF.

Did I explain things better?

IF not keeping asking. We will get it explained <img src="i/expressions/face-icon-small-tongue.gif" border="0">

JazzysMom · Jan 15, 2009

I am not saying what the doctors told you cant happen. It just cant be considered ABSOLUTE. If you approach it with their words as a guarantee & things go bad....you will be highly upset!

As to another child & the genes:

Since right now they only found the df508 in your daughter, you know that there is a chance your other child will also get the same gene. I would consider your daughter a carrier at this point.

The question is...IS there another gene not yet found for your daughter. IF that is the case.....then there are 2 genes that must be looked for in any additional children. There is a chance as you know....that even if 2 genes are found (1 being from you, 1 being from your husband), that each child is ONLY a carrier & not have CF itself.

There is some documentation that shows carriers can show certain symptoms as if they actually have CF.

Did I explain things better?

IF not keeping asking. We will get it explained <img src="i/expressions/face-icon-small-tongue.gif" border="0">

JazzysMom · Jan 15, 2009

I am not saying what the doctors told you cant happen. It just cant be considered ABSOLUTE. If you approach it with their words as a guarantee & things go bad....you will be highly upset!
 
 As to another child & the genes:
 
 Since right now they only found the df508 in your daughter, you know that there is a chance your other child will also get the same gene. I would consider your daughter a carrier at this point.
 
 The question is...IS there another gene not yet found for your daughter. IF that is the case.....then there are 2 genes that must be looked for in any additional children. There is a chance as you know....that even if 2 genes are found (1 being from you, 1 being from your husband), that each child is ONLY a carrier & not have CF itself.
 
 There is some documentation that shows carriers can show certain symptoms as if they actually have CF.
 
 Did I explain things better?
 
 IF not keeping asking. We will get it explained <img src="i/expressions/face-icon-small-tongue.gif" border="0">

Saskiaatje · Jan 15, 2009

Hi Melissa,

Thank you to offer I can ask all my questions and you are happy to explain it to me over and over again ;-)

I understand better now. There is a good chance my daughter will be doing good if they will find a 2nd mutation, but there always will be a chance that she won't. I will be upset anyway, of course, but I know what you mean. It is not how the doctors told me it, so I will confront them with the things you are telling me and see what they say.

They told me that if the 2nd mutations isn't going to be found, it is not 100% sure she hasn't got CF also. Some mutations are that rare they can not find them they said.

I'm really interested in the documenation about cariers having symptoms without having CF. Where can I find them? I'm 33 and I'm very allergic and astmatic. Maybe I have symtoms ass well as a carrier?

Are there things known about carriers and having micarriages? I know one other women who's a carrier and she had also more then 3 miscarriages. You seem to know a lot of it, so that's why I ask.

I'm also curious if there are more children or people who are pancreassufficient but have problems with getting weight. The doctor told us that the elastase is good so my daughter isn't pancreasinsufficient and will not need enzyms. However, she isn't groing and isn't eating very much. She does not have many colds or longproblems, so the weight-problem couldn't be because of losing to much energy for getting better. So what's the problem then, why isn't she groing? She is also very constipated, we have something for that.

And then my last question, for who can answer it:

Where can I find a list of all 1500 mutations they know of?

Saskiaatje · Jan 15, 2009

Hi Melissa,

Thank you to offer I can ask all my questions and you are happy to explain it to me over and over again ;-)

I understand better now. There is a good chance my daughter will be doing good if they will find a 2nd mutation, but there always will be a chance that she won't. I will be upset anyway, of course, but I know what you mean. It is not how the doctors told me it, so I will confront them with the things you are telling me and see what they say.

They told me that if the 2nd mutations isn't going to be found, it is not 100% sure she hasn't got CF also. Some mutations are that rare they can not find them they said.

I'm really interested in the documenation about cariers having symptoms without having CF. Where can I find them? I'm 33 and I'm very allergic and astmatic. Maybe I have symtoms ass well as a carrier?

Are there things known about carriers and having micarriages? I know one other women who's a carrier and she had also more then 3 miscarriages. You seem to know a lot of it, so that's why I ask.

I'm also curious if there are more children or people who are pancreassufficient but have problems with getting weight. The doctor told us that the elastase is good so my daughter isn't pancreasinsufficient and will not need enzyms. However, she isn't groing and isn't eating very much. She does not have many colds or longproblems, so the weight-problem couldn't be because of losing to much energy for getting better. So what's the problem then, why isn't she groing? She is also very constipated, we have something for that.

And then my last question, for who can answer it:

Where can I find a list of all 1500 mutations they know of?

Saskiaatje · Jan 15, 2009

Hi Melissa,

Thank you to offer I can ask all my questions and you are happy to explain it to me over and over again ;-)

I understand better now. There is a good chance my daughter will be doing good if they will find a 2nd mutation, but there always will be a chance that she won't. I will be upset anyway, of course, but I know what you mean. It is not how the doctors told me it, so I will confront them with the things you are telling me and see what they say.

They told me that if the 2nd mutations isn't going to be found, it is not 100% sure she hasn't got CF also. Some mutations are that rare they can not find them they said.

I'm really interested in the documenation about cariers having symptoms without having CF. Where can I find them? I'm 33 and I'm very allergic and astmatic. Maybe I have symtoms ass well as a carrier?

Are there things known about carriers and having micarriages? I know one other women who's a carrier and she had also more then 3 miscarriages. You seem to know a lot of it, so that's why I ask.

I'm also curious if there are more children or people who are pancreassufficient but have problems with getting weight. The doctor told us that the elastase is good so my daughter isn't pancreasinsufficient and will not need enzyms. However, she isn't groing and isn't eating very much. She does not have many colds or longproblems, so the weight-problem couldn't be because of losing to much energy for getting better. So what's the problem then, why isn't she groing? She is also very constipated, we have something for that.

And then my last question, for who can answer it:

Where can I find a list of all 1500 mutations they know of?

Saskiaatje · Jan 15, 2009

Hi Melissa,

Thank you to offer I can ask all my questions and you are happy to explain it to me over and over again ;-)

I understand better now. There is a good chance my daughter will be doing good if they will find a 2nd mutation, but there always will be a chance that she won't. I will be upset anyway, of course, but I know what you mean. It is not how the doctors told me it, so I will confront them with the things you are telling me and see what they say.

They told me that if the 2nd mutations isn't going to be found, it is not 100% sure she hasn't got CF also. Some mutations are that rare they can not find them they said.

I'm really interested in the documenation about cariers having symptoms without having CF. Where can I find them? I'm 33 and I'm very allergic and astmatic. Maybe I have symtoms ass well as a carrier?

Are there things known about carriers and having micarriages? I know one other women who's a carrier and she had also more then 3 miscarriages. You seem to know a lot of it, so that's why I ask.

I'm also curious if there are more children or people who are pancreassufficient but have problems with getting weight. The doctor told us that the elastase is good so my daughter isn't pancreasinsufficient and will not need enzyms. However, she isn't groing and isn't eating very much. She does not have many colds or longproblems, so the weight-problem couldn't be because of losing to much energy for getting better. So what's the problem then, why isn't she groing? She is also very constipated, we have something for that.

And then my last question, for who can answer it:

Where can I find a list of all 1500 mutations they know of?

Saskiaatje · Jan 15, 2009

Hi Melissa,
 
 Thank you to offer I can ask all my questions and you are happy to explain it to me over and over again ;-)
 
 I understand better now. There is a good chance my daughter will be doing good if they will find a 2nd mutation, but there always will be a chance that she won't. I will be upset anyway, of course, but I know what you mean. It is not how the doctors told me it, so I will confront them with the things you are telling me and see what they say.
 
 They told me that if the 2nd mutations isn't going to be found, it is not 100% sure she hasn't got CF also. Some mutations are that rare they can not find them they said.
 
 I'm really interested in the documenation about cariers having symptoms without having CF. Where can I find them? I'm 33 and I'm very allergic and astmatic. Maybe I have symtoms ass well as a carrier?
 
 Are there things known about carriers and having micarriages? I know one other women who's a carrier and she had also more then 3 miscarriages. You seem to know a lot of it, so that's why I ask.
 
 I'm also curious if there are more children or people who are pancreassufficient but have problems with getting weight. The doctor told us that the elastase is good so my daughter isn't pancreasinsufficient and will not need enzyms. However, she isn't groing and isn't eating very much. She does not have many colds or longproblems, so the weight-problem couldn't be because of losing to much energy for getting better. So what's the problem then, why isn't she groing? She is also very constipated, we have something for that.
 
 And then my last question, for who can answer it:
 
 Where can I find a list of all 1500 mutations they know of?

Mommafirst · Jan 15, 2009

I think you understand already that a new baby has a 25% liklihood of having the 2 mutations your daughter has.

I just wanted to pipe in that my daughter has two CF mutations. One is a very typical "classic CF" mutation, the other is rare and is considered to be very "mild" as far as CF mutations go. But that designation came from the find of ONE patient with the gene who at the age of 33 didn't have any symptoms except for absence of Vas Deferens. There are only SIX CF patients ever diagnosed with this rare mutation, and all the others are under 5 years of age. NOT a lot to go on to claim the gene is "mild" for the big picture, if you know what I mean.

There are components of my daughter's CF that are acting very typically and some that are not (for example she is pancreatic sufficient, but she has issues with bowel obstructions). Our doctor said that it is possible that the mild mutation will control her disease, but it is also possible that the more classic one will take over too. Its just a waiting game, which is why we do all the preventative care the same as any other CF patient would because we all just don't know.

Mommafirst · Jan 15, 2009

I think you understand already that a new baby has a 25% liklihood of having the 2 mutations your daughter has.

I just wanted to pipe in that my daughter has two CF mutations. One is a very typical "classic CF" mutation, the other is rare and is considered to be very "mild" as far as CF mutations go. But that designation came from the find of ONE patient with the gene who at the age of 33 didn't have any symptoms except for absence of Vas Deferens. There are only SIX CF patients ever diagnosed with this rare mutation, and all the others are under 5 years of age. NOT a lot to go on to claim the gene is "mild" for the big picture, if you know what I mean.

There are components of my daughter's CF that are acting very typically and some that are not (for example she is pancreatic sufficient, but she has issues with bowel obstructions). Our doctor said that it is possible that the mild mutation will control her disease, but it is also possible that the more classic one will take over too. Its just a waiting game, which is why we do all the preventative care the same as any other CF patient would because we all just don't know.

Mommafirst · Jan 15, 2009

I think you understand already that a new baby has a 25% liklihood of having the 2 mutations your daughter has.

I just wanted to pipe in that my daughter has two CF mutations. One is a very typical "classic CF" mutation, the other is rare and is considered to be very "mild" as far as CF mutations go. But that designation came from the find of ONE patient with the gene who at the age of 33 didn't have any symptoms except for absence of Vas Deferens. There are only SIX CF patients ever diagnosed with this rare mutation, and all the others are under 5 years of age. NOT a lot to go on to claim the gene is "mild" for the big picture, if you know what I mean.

There are components of my daughter's CF that are acting very typically and some that are not (for example she is pancreatic sufficient, but she has issues with bowel obstructions). Our doctor said that it is possible that the mild mutation will control her disease, but it is also possible that the more classic one will take over too. Its just a waiting game, which is why we do all the preventative care the same as any other CF patient would because we all just don't know.

Mommafirst · Jan 15, 2009

I think you understand already that a new baby has a 25% liklihood of having the 2 mutations your daughter has.

I just wanted to pipe in that my daughter has two CF mutations. One is a very typical "classic CF" mutation, the other is rare and is considered to be very "mild" as far as CF mutations go. But that designation came from the find of ONE patient with the gene who at the age of 33 didn't have any symptoms except for absence of Vas Deferens. There are only SIX CF patients ever diagnosed with this rare mutation, and all the others are under 5 years of age. NOT a lot to go on to claim the gene is "mild" for the big picture, if you know what I mean.

There are components of my daughter's CF that are acting very typically and some that are not (for example she is pancreatic sufficient, but she has issues with bowel obstructions). Our doctor said that it is possible that the mild mutation will control her disease, but it is also possible that the more classic one will take over too. Its just a waiting game, which is why we do all the preventative care the same as any other CF patient would because we all just don't know.

Mommafirst · Jan 15, 2009

I think you understand already that a new baby has a 25% liklihood of having the 2 mutations your daughter has.
 
 I just wanted to pipe in that my daughter has two CF mutations. One is a very typical "classic CF" mutation, the other is rare and is considered to be very "mild" as far as CF mutations go. But that designation came from the find of ONE patient with the gene who at the age of 33 didn't have any symptoms except for absence of Vas Deferens. There are only SIX CF patients ever diagnosed with this rare mutation, and all the others are under 5 years of age. NOT a lot to go on to claim the gene is "mild" for the big picture, if you know what I mean.
 
 There are components of my daughter's CF that are acting very typically and some that are not (for example she is pancreatic sufficient, but she has issues with bowel obstructions). Our doctor said that it is possible that the mild mutation will control her disease, but it is also possible that the more classic one will take over too. Its just a waiting game, which is why we do all the preventative care the same as any other CF patient would because we all just don't know.

Alyssa · Jan 16, 2009

I'm wondering if we still haven't answered one of your questions about what genes a potential 2nd child would have - in case we didn't answer this for you - I think you have asked if a 2nd child could end up with different genes than your 1st child.

Assuming that there is indeed a 2nd gene from one of the parents, then yes, if you have a 2nd child and that child has CF, that child will have inherited the same two CF genes as the 1st child. There are some very very very rare occasions when a parent actually finds out that they have two CF genes and the other parent has one, and therefore the child can end up with a different gene combination - but generally speaking that doesn't happen - most of the time we are only dealing with the exact same two genes (one from the mother and one from the father) that's it - either the child gets one from the mother and not the one from the father (makes the child a carrier) or they get the one from the father and not the mother (still making the child a carrier) or they get both genes (making the child have CF) or the child doesn't get either one of the genes from either one of the parents (making the child completely CF gene free) hence the 4 different possibilities giving you the 25% or 1 in 4 chance of getting a child with CF.

Alyssa · Jan 16, 2009

I'm wondering if we still haven't answered one of your questions about what genes a potential 2nd child would have - in case we didn't answer this for you - I think you have asked if a 2nd child could end up with different genes than your 1st child.

Assuming that there is indeed a 2nd gene from one of the parents, then yes, if you have a 2nd child and that child has CF, that child will have inherited the same two CF genes as the 1st child. There are some very very very rare occasions when a parent actually finds out that they have two CF genes and the other parent has one, and therefore the child can end up with a different gene combination - but generally speaking that doesn't happen - most of the time we are only dealing with the exact same two genes (one from the mother and one from the father) that's it - either the child gets one from the mother and not the one from the father (makes the child a carrier) or they get the one from the father and not the mother (still making the child a carrier) or they get both genes (making the child have CF) or the child doesn't get either one of the genes from either one of the parents (making the child completely CF gene free) hence the 4 different possibilities giving you the 25% or 1 in 4 chance of getting a child with CF.

Alyssa · Jan 16, 2009

I'm wondering if we still haven't answered one of your questions about what genes a potential 2nd child would have - in case we didn't answer this for you - I think you have asked if a 2nd child could end up with different genes than your 1st child.

Assuming that there is indeed a 2nd gene from one of the parents, then yes, if you have a 2nd child and that child has CF, that child will have inherited the same two CF genes as the 1st child. There are some very very very rare occasions when a parent actually finds out that they have two CF genes and the other parent has one, and therefore the child can end up with a different gene combination - but generally speaking that doesn't happen - most of the time we are only dealing with the exact same two genes (one from the mother and one from the father) that's it - either the child gets one from the mother and not the one from the father (makes the child a carrier) or they get the one from the father and not the mother (still making the child a carrier) or they get both genes (making the child have CF) or the child doesn't get either one of the genes from either one of the parents (making the child completely CF gene free) hence the 4 different possibilities giving you the 25% or 1 in 4 chance of getting a child with CF.

Alyssa · Jan 16, 2009

I'm wondering if we still haven't answered one of your questions about what genes a potential 2nd child would have - in case we didn't answer this for you - I think you have asked if a 2nd child could end up with different genes than your 1st child.

Assuming that there is indeed a 2nd gene from one of the parents, then yes, if you have a 2nd child and that child has CF, that child will have inherited the same two CF genes as the 1st child. There are some very very very rare occasions when a parent actually finds out that they have two CF genes and the other parent has one, and therefore the child can end up with a different gene combination - but generally speaking that doesn't happen - most of the time we are only dealing with the exact same two genes (one from the mother and one from the father) that's it - either the child gets one from the mother and not the one from the father (makes the child a carrier) or they get the one from the father and not the mother (still making the child a carrier) or they get both genes (making the child have CF) or the child doesn't get either one of the genes from either one of the parents (making the child completely CF gene free) hence the 4 different possibilities giving you the 25% or 1 in 4 chance of getting a child with CF.

Alyssa · Jan 16, 2009

I'm wondering if we still haven't answered one of your questions about what genes a potential 2nd child would have - in case we didn't answer this for you - I think you have asked if a 2nd child could end up with different genes than your 1st child.
 
 Assuming that there is indeed a 2nd gene from one of the parents, then yes, if you have a 2nd child and that child has CF, that child will have inherited the same two CF genes as the 1st child. There are some very very very rare occasions when a parent actually finds out that they have two CF genes and the other parent has one, and therefore the child can end up with a different gene combination - but generally speaking that doesn't happen - most of the time we are only dealing with the exact same two genes (one from the mother and one from the father) that's it - either the child gets one from the mother and not the one from the father (makes the child a carrier) or they get the one from the father and not the mother (still making the child a carrier) or they get both genes (making the child have CF) or the child doesn't get either one of the genes from either one of the parents (making the child completely CF gene free) hence the 4 different possibilities giving you the 25% or 1 in 4 chance of getting a child with CF.

Mild mutation and childwish

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