Questions about adult diagnosis

smccanl · Jul 11, 2008

Thanks for all the responses! Marla, I don't know if I have had pancreatic issues or not. I have gone through bouts in the past of severe digestive problems - frequent nausea and diarrhea - and many years ago a wheat-free, dairy-free diet seemed to help. When I was pregnant I had hyperemesis (severe nausea & vomiting, needing IV fluids) both times - can that be related? I am currently at least 20 pounds overweight so I obviously don't have any trouble gaining <img src="i/expressions/face-icon-small-wink.gif" border="0">

I have only spoken to the allergist on the phone since these results came in. She said there were two mutations, one was associated with "typical" CF and the other was a less common variant that must cause a milder disease. She fully admits to not being an expert in this. She said the CF doctor at USC asked her to forward my records and then he would decide if he needed to see me. Would a CF center ever tell someone they don't need to be seen? Or is she just easing me into this?

I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.

She called me just before leaving town, so what I know (which isn't much) is all I'm getting for a while.

Thanks so much, everyone.
Sarah

smccanl · Jul 11, 2008

Thanks for all the responses! Marla, I don't know if I have had pancreatic issues or not. I have gone through bouts in the past of severe digestive problems - frequent nausea and diarrhea - and many years ago a wheat-free, dairy-free diet seemed to help. When I was pregnant I had hyperemesis (severe nausea & vomiting, needing IV fluids) both times - can that be related? I am currently at least 20 pounds overweight so I obviously don't have any trouble gaining <img src="i/expressions/face-icon-small-wink.gif" border="0">

I have only spoken to the allergist on the phone since these results came in. She said there were two mutations, one was associated with "typical" CF and the other was a less common variant that must cause a milder disease. She fully admits to not being an expert in this. She said the CF doctor at USC asked her to forward my records and then he would decide if he needed to see me. Would a CF center ever tell someone they don't need to be seen? Or is she just easing me into this?

I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.

She called me just before leaving town, so what I know (which isn't much) is all I'm getting for a while.

Thanks so much, everyone.
Sarah

smccanl · Jul 11, 2008

Thanks for all the responses! Marla, I don't know if I have had pancreatic issues or not. I have gone through bouts in the past of severe digestive problems - frequent nausea and diarrhea - and many years ago a wheat-free, dairy-free diet seemed to help. When I was pregnant I had hyperemesis (severe nausea & vomiting, needing IV fluids) both times - can that be related? I am currently at least 20 pounds overweight so I obviously don't have any trouble gaining <img src="i/expressions/face-icon-small-wink.gif" border="0">

I have only spoken to the allergist on the phone since these results came in. She said there were two mutations, one was associated with "typical" CF and the other was a less common variant that must cause a milder disease. She fully admits to not being an expert in this. She said the CF doctor at USC asked her to forward my records and then he would decide if he needed to see me. Would a CF center ever tell someone they don't need to be seen? Or is she just easing me into this?

I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.

She called me just before leaving town, so what I know (which isn't much) is all I'm getting for a while.

Thanks so much, everyone.
Sarah

smccanl · Jul 11, 2008

Thanks for all the responses! Marla, I don't know if I have had pancreatic issues or not. I have gone through bouts in the past of severe digestive problems - frequent nausea and diarrhea - and many years ago a wheat-free, dairy-free diet seemed to help. When I was pregnant I had hyperemesis (severe nausea & vomiting, needing IV fluids) both times - can that be related? I am currently at least 20 pounds overweight so I obviously don't have any trouble gaining <img src="i/expressions/face-icon-small-wink.gif" border="0">

I have only spoken to the allergist on the phone since these results came in. She said there were two mutations, one was associated with "typical" CF and the other was a less common variant that must cause a milder disease. She fully admits to not being an expert in this. She said the CF doctor at USC asked her to forward my records and then he would decide if he needed to see me. Would a CF center ever tell someone they don't need to be seen? Or is she just easing me into this?

I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.

She called me just before leaving town, so what I know (which isn't much) is all I'm getting for a while.

Thanks so much, everyone.
Sarah

smccanl · Jul 11, 2008

Thanks for all the responses! Marla, I don't know if I have had pancreatic issues or not. I have gone through bouts in the past of severe digestive problems - frequent nausea and diarrhea - and many years ago a wheat-free, dairy-free diet seemed to help. When I was pregnant I had hyperemesis (severe nausea & vomiting, needing IV fluids) both times - can that be related? I am currently at least 20 pounds overweight so I obviously don't have any trouble gaining <img src="i/expressions/face-icon-small-wink.gif" border="0">
 
 I have only spoken to the allergist on the phone since these results came in. She said there were two mutations, one was associated with "typical" CF and the other was a less common variant that must cause a milder disease. She fully admits to not being an expert in this. She said the CF doctor at USC asked her to forward my records and then he would decide if he needed to see me. Would a CF center ever tell someone they don't need to be seen? Or is she just easing me into this?
 
 I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.
 
 She called me just before leaving town, so what I know (which isn't much) is all I'm getting for a while.
 
 Thanks so much, everyone.
 Sarah

Ratatosk · Jul 11, 2008

If you know your mutations, you could post a question for Steven in the Ambry/Genetic testing section in the family forum.

On a side note, I keep wondering about a couple of DH's cousin's kids. One supposedly had asthma as a child, but apparently outgrew it -- still has issues with coughing sometimes at night and her parents were told to give her an expectorant. They were also told she didn't have CF because she passed her sweat test (I've told them so did DS). Her brother doesn't have breathing or allergy issues, but has always struggled with bowel issues -- would always plug a toilet at someone's house during holidays. And he recently was doing an elimination, gluten free diet in the hopes to eleviate some of his issues. Both are in their 20s and have always struggled with being overweight. Just makes me wonder...

Ratatosk · Jul 11, 2008

If you know your mutations, you could post a question for Steven in the Ambry/Genetic testing section in the family forum.

On a side note, I keep wondering about a couple of DH's cousin's kids. One supposedly had asthma as a child, but apparently outgrew it -- still has issues with coughing sometimes at night and her parents were told to give her an expectorant. They were also told she didn't have CF because she passed her sweat test (I've told them so did DS). Her brother doesn't have breathing or allergy issues, but has always struggled with bowel issues -- would always plug a toilet at someone's house during holidays. And he recently was doing an elimination, gluten free diet in the hopes to eleviate some of his issues. Both are in their 20s and have always struggled with being overweight. Just makes me wonder...

Ratatosk · Jul 11, 2008

If you know your mutations, you could post a question for Steven in the Ambry/Genetic testing section in the family forum.

On a side note, I keep wondering about a couple of DH's cousin's kids. One supposedly had asthma as a child, but apparently outgrew it -- still has issues with coughing sometimes at night and her parents were told to give her an expectorant. They were also told she didn't have CF because she passed her sweat test (I've told them so did DS). Her brother doesn't have breathing or allergy issues, but has always struggled with bowel issues -- would always plug a toilet at someone's house during holidays. And he recently was doing an elimination, gluten free diet in the hopes to eleviate some of his issues. Both are in their 20s and have always struggled with being overweight. Just makes me wonder...

Ratatosk · Jul 11, 2008

If you know your mutations, you could post a question for Steven in the Ambry/Genetic testing section in the family forum.

On a side note, I keep wondering about a couple of DH's cousin's kids. One supposedly had asthma as a child, but apparently outgrew it -- still has issues with coughing sometimes at night and her parents were told to give her an expectorant. They were also told she didn't have CF because she passed her sweat test (I've told them so did DS). Her brother doesn't have breathing or allergy issues, but has always struggled with bowel issues -- would always plug a toilet at someone's house during holidays. And he recently was doing an elimination, gluten free diet in the hopes to eleviate some of his issues. Both are in their 20s and have always struggled with being overweight. Just makes me wonder...

Ratatosk · Jul 11, 2008

If you know your mutations, you could post a question for Steven in the Ambry/Genetic testing section in the family forum.
 
 On a side note, I keep wondering about a couple of DH's cousin's kids. One supposedly had asthma as a child, but apparently outgrew it -- still has issues with coughing sometimes at night and her parents were told to give her an expectorant. They were also told she didn't have CF because she passed her sweat test (I've told them so did DS). Her brother doesn't have breathing or allergy issues, but has always struggled with bowel issues -- would always plug a toilet at someone's house during holidays. And he recently was doing an elimination, gluten free diet in the hopes to eleviate some of his issues. Both are in their 20s and have always struggled with being overweight. Just makes me wonder...

Sevenstars · Jul 11, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: smccanl

I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.

</end quote></div>

Carrier screenings (which are the same as a "basic panel") tests for the 30ish most common CF genes. When it discovered you were heterozygous that means it only found one gene, your more common gene. This would make it seem like you are a carrier, simply because they couldn't detect your other, more rare gene, with that test.

The "full panel" genetic test checks for over 1500 mutations, so even the rarest ones are picked up - and that is what found your second gene.

When she said the doctor would "decide if she needed to see you" I think that was either a lack of knowledge talking, or just fluff-talk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> If someone has CF, even in the mildest of mild cases, they are followed up by a CF doctor. The difference is simply how OFTEN you see that doctor, and how aggressive your treatments are. But yes, even in mild cases, prevention is the key! Your doc will be able to help you with that cough and probably the digestive issues which sound like they could be CF related as well.

If any of the genetic lingo is confusing to you, just ask, I love talking about the genetics of CF. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Welcome to the site, I hope you like your new CF doc.

Sevenstars · Jul 11, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: smccanl

I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.

</end quote></div>

Carrier screenings (which are the same as a "basic panel") tests for the 30ish most common CF genes. When it discovered you were heterozygous that means it only found one gene, your more common gene. This would make it seem like you are a carrier, simply because they couldn't detect your other, more rare gene, with that test.

The "full panel" genetic test checks for over 1500 mutations, so even the rarest ones are picked up - and that is what found your second gene.

When she said the doctor would "decide if she needed to see you" I think that was either a lack of knowledge talking, or just fluff-talk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> If someone has CF, even in the mildest of mild cases, they are followed up by a CF doctor. The difference is simply how OFTEN you see that doctor, and how aggressive your treatments are. But yes, even in mild cases, prevention is the key! Your doc will be able to help you with that cough and probably the digestive issues which sound like they could be CF related as well.

If any of the genetic lingo is confusing to you, just ask, I love talking about the genetics of CF. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Welcome to the site, I hope you like your new CF doc.

Sevenstars · Jul 11, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: smccanl

I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.

</end quote></div>

Carrier screenings (which are the same as a "basic panel") tests for the 30ish most common CF genes. When it discovered you were heterozygous that means it only found one gene, your more common gene. This would make it seem like you are a carrier, simply because they couldn't detect your other, more rare gene, with that test.

The "full panel" genetic test checks for over 1500 mutations, so even the rarest ones are picked up - and that is what found your second gene.

When she said the doctor would "decide if she needed to see you" I think that was either a lack of knowledge talking, or just fluff-talk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> If someone has CF, even in the mildest of mild cases, they are followed up by a CF doctor. The difference is simply how OFTEN you see that doctor, and how aggressive your treatments are. But yes, even in mild cases, prevention is the key! Your doc will be able to help you with that cough and probably the digestive issues which sound like they could be CF related as well.

If any of the genetic lingo is confusing to you, just ask, I love talking about the genetics of CF. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Welcome to the site, I hope you like your new CF doc.

Sevenstars · Jul 11, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: smccanl

I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.

</end quote>

Carrier screenings (which are the same as a "basic panel") tests for the 30ish most common CF genes. When it discovered you were heterozygous that means it only found one gene, your more common gene. This would make it seem like you are a carrier, simply because they couldn't detect your other, more rare gene, with that test.

The "full panel" genetic test checks for over 1500 mutations, so even the rarest ones are picked up - and that is what found your second gene.

When she said the doctor would "decide if she needed to see you" I think that was either a lack of knowledge talking, or just fluff-talk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> If someone has CF, even in the mildest of mild cases, they are followed up by a CF doctor. The difference is simply how OFTEN you see that doctor, and how aggressive your treatments are. But yes, even in mild cases, prevention is the key! Your doc will be able to help you with that cough and probably the digestive issues which sound like they could be CF related as well.

If any of the genetic lingo is confusing to you, just ask, I love talking about the genetics of CF. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Welcome to the site, I hope you like your new CF doc.

Sevenstars · Jul 11, 2008

<div class="FTQUOTE"><begin quote>Originally posted by: smccanl
 
 I had previously had a carrier screening done that said I was heterozygous, but then she did a sweat chloride test anyway and it was borderline, and then the people she consulted at USC told her to order a complete gene panel and it showed up pos. for CF. That's all I know.
 
 </end quote>
 
 Carrier screenings (which are the same as a "basic panel") tests for the 30ish most common CF genes. When it discovered you were heterozygous that means it only found one gene, your more common gene. This would make it seem like you are a carrier, simply because they couldn't detect your other, more rare gene, with that test.
 
 The "full panel" genetic test checks for over 1500 mutations, so even the rarest ones are picked up - and that is what found your second gene.
 
 When she said the doctor would "decide if she needed to see you" I think that was either a lack of knowledge talking, or just fluff-talk. <img src="i/expressions/face-icon-small-smile.gif" border="0"> If someone has CF, even in the mildest of mild cases, they are followed up by a CF doctor. The difference is simply how OFTEN you see that doctor, and how aggressive your treatments are. But yes, even in mild cases, prevention is the key! Your doc will be able to help you with that cough and probably the digestive issues which sound like they could be CF related as well.
 
 If any of the genetic lingo is confusing to you, just ask, I love talking about the genetics of CF. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Welcome to the site, I hope you like your new CF doc.

CaliSally · Jul 11, 2008

CaliSally · Jul 11, 2008

CaliSally · Jul 11, 2008

CaliSally · Jul 11, 2008

CaliSally · Jul 11, 2008

Questions about adult diagnosis

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