Pregnant

saveferris2009 · Aug 6, 2009

To re-iterate what Patti said -

Not all CF carriers tests are created equal.

Unless it was an Ambry Amplified genetic test, I wouldn't be confident that he's not a carrier.

LouLou on this board is a perfect example of this....

saveferris2009 · Aug 6, 2009

To re-iterate what Patti said -

Not all CF carriers tests are created equal.

Unless it was an Ambry Amplified genetic test, I wouldn't be confident that he's not a carrier.

LouLou on this board is a perfect example of this....

saveferris2009 · Aug 6, 2009

To re-iterate what Patti said -

Not all CF carriers tests are created equal.

Unless it was an Ambry Amplified genetic test, I wouldn't be confident that he's not a carrier.

LouLou on this board is a perfect example of this....

saveferris2009 · Aug 6, 2009

To re-iterate what Patti said -

Not all CF carriers tests are created equal.

Unless it was an Ambry Amplified genetic test, I wouldn't be confident that he's not a carrier.

LouLou on this board is a perfect example of this....

saveferris2009 · Aug 6, 2009

To re-iterate what Patti said -
 
 Not all CF carriers tests are created equal.
 
 Unless it was an Ambry Amplified genetic test, I wouldn't be confident that he's not a carrier.
 
 LouLou on this board is a perfect example of this....

LouLou · Aug 6, 2009

As Amy stated my son has cf. If all cfers would have their children tested it would be - I guarantee you - more than just us that are in this position. I firmly believe that there are A LOT of people with cf out there of all ages with no idea. Granted what is to be gained maybe if they don't have symptoms?

Here's the story...

My husband was tested for 89 mutations which accounts for 95% of the gene incidence of cf. This is the standard practice for a spouse of a cfer. We went through my cf doc at the time for dh's testing. This was in 2004.

When we conceived our child (2007) we were told that there was a 1/500 chance of having a cf baby. Where they get these stats I don't know because the mass populations have never been tested for all 1500 mutations. So you wonder how accurate the CFF's stat of 1:25 caucasions being carriers really is, eh?

Being that I was at a high risk OB clinic due to me having cf they kept a close eye out for echogenical bowel in my fetus. He never showed any signs of cf and to this day the only thing that might be attributable to cf is that he wrinkles when bathed and is colonized with MRSA in his throat. The MRSA is not considered a sign of cf by definition though because you do not have to have compromised lungs in order to have it like you do with PA. I am also colonized with MRSA.

Anyway back on topic, once baby was born I wanted to rule out any chance of him having cf so I had him sweat tested and genetic tested on the same day. He had a very normal sweat test of 11/12 but genetic testing revealed two mutations. He is an anomoly in the cf world because most people are never genetically tested (especially for all 1500 mutations) unless they have at least a symptom.

We practice preventative care for his lungs and he takes ADEKs vitamins. If nothing else it will teach him discipline

And if he does become symptomatic at least we'll have no guilt that we did what we could.

Patti, Did you ever get your son tested for all known mutations? I think we owe it to our kids personally.

LouLou · Aug 6, 2009

As Amy stated my son has cf. If all cfers would have their children tested it would be - I guarantee you - more than just us that are in this position. I firmly believe that there are A LOT of people with cf out there of all ages with no idea. Granted what is to be gained maybe if they don't have symptoms?

Here's the story...

My husband was tested for 89 mutations which accounts for 95% of the gene incidence of cf. This is the standard practice for a spouse of a cfer. We went through my cf doc at the time for dh's testing. This was in 2004.

When we conceived our child (2007) we were told that there was a 1/500 chance of having a cf baby. Where they get these stats I don't know because the mass populations have never been tested for all 1500 mutations. So you wonder how accurate the CFF's stat of 1:25 caucasions being carriers really is, eh?

Being that I was at a high risk OB clinic due to me having cf they kept a close eye out for echogenical bowel in my fetus. He never showed any signs of cf and to this day the only thing that might be attributable to cf is that he wrinkles when bathed and is colonized with MRSA in his throat. The MRSA is not considered a sign of cf by definition though because you do not have to have compromised lungs in order to have it like you do with PA. I am also colonized with MRSA.

Anyway back on topic, once baby was born I wanted to rule out any chance of him having cf so I had him sweat tested and genetic tested on the same day. He had a very normal sweat test of 11/12 but genetic testing revealed two mutations. He is an anomoly in the cf world because most people are never genetically tested (especially for all 1500 mutations) unless they have at least a symptom.

We practice preventative care for his lungs and he takes ADEKs vitamins. If nothing else it will teach him discipline

And if he does become symptomatic at least we'll have no guilt that we did what we could.

Patti, Did you ever get your son tested for all known mutations? I think we owe it to our kids personally.

LouLou · Aug 6, 2009

As Amy stated my son has cf. If all cfers would have their children tested it would be - I guarantee you - more than just us that are in this position. I firmly believe that there are A LOT of people with cf out there of all ages with no idea. Granted what is to be gained maybe if they don't have symptoms?

Here's the story...

My husband was tested for 89 mutations which accounts for 95% of the gene incidence of cf. This is the standard practice for a spouse of a cfer. We went through my cf doc at the time for dh's testing. This was in 2004.

When we conceived our child (2007) we were told that there was a 1/500 chance of having a cf baby. Where they get these stats I don't know because the mass populations have never been tested for all 1500 mutations. So you wonder how accurate the CFF's stat of 1:25 caucasions being carriers really is, eh?

Being that I was at a high risk OB clinic due to me having cf they kept a close eye out for echogenical bowel in my fetus. He never showed any signs of cf and to this day the only thing that might be attributable to cf is that he wrinkles when bathed and is colonized with MRSA in his throat. The MRSA is not considered a sign of cf by definition though because you do not have to have compromised lungs in order to have it like you do with PA. I am also colonized with MRSA.

Anyway back on topic, once baby was born I wanted to rule out any chance of him having cf so I had him sweat tested and genetic tested on the same day. He had a very normal sweat test of 11/12 but genetic testing revealed two mutations. He is an anomoly in the cf world because most people are never genetically tested (especially for all 1500 mutations) unless they have at least a symptom.

We practice preventative care for his lungs and he takes ADEKs vitamins. If nothing else it will teach him discipline

And if he does become symptomatic at least we'll have no guilt that we did what we could.

Patti, Did you ever get your son tested for all known mutations? I think we owe it to our kids personally.

LouLou · Aug 6, 2009

As Amy stated my son has cf. If all cfers would have their children tested it would be - I guarantee you - more than just us that are in this position. I firmly believe that there are A LOT of people with cf out there of all ages with no idea. Granted what is to be gained maybe if they don't have symptoms?

Here's the story...

My husband was tested for 89 mutations which accounts for 95% of the gene incidence of cf. This is the standard practice for a spouse of a cfer. We went through my cf doc at the time for dh's testing. This was in 2004.

When we conceived our child (2007) we were told that there was a 1/500 chance of having a cf baby. Where they get these stats I don't know because the mass populations have never been tested for all 1500 mutations. So you wonder how accurate the CFF's stat of 1:25 caucasions being carriers really is, eh?

Being that I was at a high risk OB clinic due to me having cf they kept a close eye out for echogenical bowel in my fetus. He never showed any signs of cf and to this day the only thing that might be attributable to cf is that he wrinkles when bathed and is colonized with MRSA in his throat. The MRSA is not considered a sign of cf by definition though because you do not have to have compromised lungs in order to have it like you do with PA. I am also colonized with MRSA.

Anyway back on topic, once baby was born I wanted to rule out any chance of him having cf so I had him sweat tested and genetic tested on the same day. He had a very normal sweat test of 11/12 but genetic testing revealed two mutations. He is an anomoly in the cf world because most people are never genetically tested (especially for all 1500 mutations) unless they have at least a symptom.

We practice preventative care for his lungs and he takes ADEKs vitamins. If nothing else it will teach him discipline

And if he does become symptomatic at least we'll have no guilt that we did what we could.

Patti, Did you ever get your son tested for all known mutations? I think we owe it to our kids personally.

LouLou · Aug 6, 2009

As Amy stated my son has cf. If all cfers would have their children tested it would be - I guarantee you - more than just us that are in this position. I firmly believe that there are A LOT of people with cf out there of all ages with no idea. Granted what is to be gained maybe if they don't have symptoms?
 
 Here's the story...
 
 My husband was tested for 89 mutations which accounts for 95% of the gene incidence of cf. This is the standard practice for a spouse of a cfer. We went through my cf doc at the time for dh's testing. This was in 2004.
 
 When we conceived our child (2007) we were told that there was a 1/500 chance of having a cf baby. Where they get these stats I don't know because the mass populations have never been tested for all 1500 mutations. So you wonder how accurate the CFF's stat of 1:25 caucasions being carriers really is, eh?
 
 Being that I was at a high risk OB clinic due to me having cf they kept a close eye out for echogenical bowel in my fetus. He never showed any signs of cf and to this day the only thing that might be attributable to cf is that he wrinkles when bathed and is colonized with MRSA in his throat. The MRSA is not considered a sign of cf by definition though because you do not have to have compromised lungs in order to have it like you do with PA. I am also colonized with MRSA.
 
 Anyway back on topic, once baby was born I wanted to rule out any chance of him having cf so I had him sweat tested and genetic tested on the same day. He had a very normal sweat test of 11/12 but genetic testing revealed two mutations. He is an anomoly in the cf world because most people are never genetically tested (especially for all 1500 mutations) unless they have at least a symptom.
 
 We practice preventative care for his lungs and he takes ADEKs vitamins. If nothing else it will teach him discipline

And if he does become symptomatic at least we'll have no guilt that we did what we could.
 
 Patti, Did you ever get your son tested for all known mutations? I think we owe it to our kids personally.

Kristen · Aug 6, 2009

Yes. Both parents have to be carriers of the CF gene in order for them to have a child with CF. If you have CF and your partner carries the gene, you have a 50/50 chance of having a baby with CF. If your partner is not a carrier, you will not have a baby with CF (but it will still carry the gene because you pass one on).

However, like others said, there is no way to really know if your partner is not a carrier. Even if your partner has tested negative, there is still a chance he could be a carrier because there are so many unknown mutations out there that aren't tested for. So, if the test comes back negative, it doesn't mean that you 100% WON'T have a baby with CF, but the odds are relatively small.

Kristen · Aug 6, 2009

Yes. Both parents have to be carriers of the CF gene in order for them to have a child with CF. If you have CF and your partner carries the gene, you have a 50/50 chance of having a baby with CF. If your partner is not a carrier, you will not have a baby with CF (but it will still carry the gene because you pass one on).

However, like others said, there is no way to really know if your partner is not a carrier. Even if your partner has tested negative, there is still a chance he could be a carrier because there are so many unknown mutations out there that aren't tested for. So, if the test comes back negative, it doesn't mean that you 100% WON'T have a baby with CF, but the odds are relatively small.

Kristen · Aug 6, 2009

Yes. Both parents have to be carriers of the CF gene in order for them to have a child with CF. If you have CF and your partner carries the gene, you have a 50/50 chance of having a baby with CF. If your partner is not a carrier, you will not have a baby with CF (but it will still carry the gene because you pass one on).

However, like others said, there is no way to really know if your partner is not a carrier. Even if your partner has tested negative, there is still a chance he could be a carrier because there are so many unknown mutations out there that aren't tested for. So, if the test comes back negative, it doesn't mean that you 100% WON'T have a baby with CF, but the odds are relatively small.

Kristen · Aug 6, 2009

Yes. Both parents have to be carriers of the CF gene in order for them to have a child with CF. If you have CF and your partner carries the gene, you have a 50/50 chance of having a baby with CF. If your partner is not a carrier, you will not have a baby with CF (but it will still carry the gene because you pass one on).

However, like others said, there is no way to really know if your partner is not a carrier. Even if your partner has tested negative, there is still a chance he could be a carrier because there are so many unknown mutations out there that aren't tested for. So, if the test comes back negative, it doesn't mean that you 100% WON'T have a baby with CF, but the odds are relatively small.

Kristen · Aug 6, 2009

Yes. Both parents have to be carriers of the CF gene in order for them to have a child with CF. If you have CF and your partner carries the gene, you have a 50/50 chance of having a baby with CF. If your partner is not a carrier, you will not have a baby with CF (but it will still carry the gene because you pass one on).
 
 However, like others said, there is no way to really know if your partner is not a carrier. Even if your partner has tested negative, there is still a chance he could be a carrier because there are so many unknown mutations out there that aren't tested for. So, if the test comes back negative, it doesn't mean that you 100% WON'T have a baby with CF, but the odds are relatively small.

cfsue · Aug 17, 2009