DF508 carriers and bad CF symptoms

SaltyAndSweet · May 16, 2008

I am really worried about my mom (carrier of DF508 mutation). She is recovering from surgery, spiked a fever and her o2 levels dropped. Turns out, totally unrelated to the surgery, she now has a lung infection.

What really bothers me is that she, not a smoker, had a collapsed lung last year because of "the mother of all mucus plugs" (direct quote from the pulmo doc). It was Pseudo A. that caused that infection, which is what I always culture. I just saw mom last weekend and I am worried I may have given her another lung infection. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I know it is hard to transmit infections from us cystics to a "healty" person, but this is happening so often it is obvious that she is somehow compromised.

Mom has a LOT of symptoms of CF. Sweat test last year was negative and a basic CF genetic screen (only 25 mutations looked at) said DF508, carrier. My mutations are DF508 and DF501 (can't find any info online about DF501). The test they gave mom would have shown me as only a carrier because they didn't test for DF501, but I DEFINITELY have CF. Mom was on the fence about getting a full test because part of her just doesn't want to know if she has CF (depression?) despite the fact she could get better treatment.

Does anyone know if DF508 carriers show a lot of signs and symptoms of CF. Sinus, digestive and lung. Should I push mom to get a full test? And if so, how can I convince her?

Thanks a bunch!

SaltyAndSweet · May 16, 2008

I am really worried about my mom (carrier of DF508 mutation). She is recovering from surgery, spiked a fever and her o2 levels dropped. Turns out, totally unrelated to the surgery, she now has a lung infection.

What really bothers me is that she, not a smoker, had a collapsed lung last year because of "the mother of all mucus plugs" (direct quote from the pulmo doc). It was Pseudo A. that caused that infection, which is what I always culture. I just saw mom last weekend and I am worried I may have given her another lung infection. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I know it is hard to transmit infections from us cystics to a "healty" person, but this is happening so often it is obvious that she is somehow compromised.

Mom has a LOT of symptoms of CF. Sweat test last year was negative and a basic CF genetic screen (only 25 mutations looked at) said DF508, carrier. My mutations are DF508 and DF501 (can't find any info online about DF501). The test they gave mom would have shown me as only a carrier because they didn't test for DF501, but I DEFINITELY have CF. Mom was on the fence about getting a full test because part of her just doesn't want to know if she has CF (depression?) despite the fact she could get better treatment.

Does anyone know if DF508 carriers show a lot of signs and symptoms of CF. Sinus, digestive and lung. Should I push mom to get a full test? And if so, how can I convince her?

Thanks a bunch!

SaltyAndSweet · May 16, 2008

I am really worried about my mom (carrier of DF508 mutation). She is recovering from surgery, spiked a fever and her o2 levels dropped. Turns out, totally unrelated to the surgery, she now has a lung infection.

What really bothers me is that she, not a smoker, had a collapsed lung last year because of "the mother of all mucus plugs" (direct quote from the pulmo doc). It was Pseudo A. that caused that infection, which is what I always culture. I just saw mom last weekend and I am worried I may have given her another lung infection. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I know it is hard to transmit infections from us cystics to a "healty" person, but this is happening so often it is obvious that she is somehow compromised.

Mom has a LOT of symptoms of CF. Sweat test last year was negative and a basic CF genetic screen (only 25 mutations looked at) said DF508, carrier. My mutations are DF508 and DF501 (can't find any info online about DF501). The test they gave mom would have shown me as only a carrier because they didn't test for DF501, but I DEFINITELY have CF. Mom was on the fence about getting a full test because part of her just doesn't want to know if she has CF (depression?) despite the fact she could get better treatment.

Does anyone know if DF508 carriers show a lot of signs and symptoms of CF. Sinus, digestive and lung. Should I push mom to get a full test? And if so, how can I convince her?

Thanks a bunch!

SaltyAndSweet · May 16, 2008

I am really worried about my mom (carrier of DF508 mutation). She is recovering from surgery, spiked a fever and her o2 levels dropped. Turns out, totally unrelated to the surgery, she now has a lung infection.

What really bothers me is that she, not a smoker, had a collapsed lung last year because of "the mother of all mucus plugs" (direct quote from the pulmo doc). It was Pseudo A. that caused that infection, which is what I always culture. I just saw mom last weekend and I am worried I may have given her another lung infection. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I know it is hard to transmit infections from us cystics to a "healty" person, but this is happening so often it is obvious that she is somehow compromised.

Mom has a LOT of symptoms of CF. Sweat test last year was negative and a basic CF genetic screen (only 25 mutations looked at) said DF508, carrier. My mutations are DF508 and DF501 (can't find any info online about DF501). The test they gave mom would have shown me as only a carrier because they didn't test for DF501, but I DEFINITELY have CF. Mom was on the fence about getting a full test because part of her just doesn't want to know if she has CF (depression?) despite the fact she could get better treatment.

Does anyone know if DF508 carriers show a lot of signs and symptoms of CF. Sinus, digestive and lung. Should I push mom to get a full test? And if so, how can I convince her?

Thanks a bunch!

SaltyAndSweet · May 16, 2008

I am really worried about my mom (carrier of DF508 mutation). She is recovering from surgery, spiked a fever and her o2 levels dropped. Turns out, totally unrelated to the surgery, she now has a lung infection.
 
 What really bothers me is that she, not a smoker, had a collapsed lung last year because of "the mother of all mucus plugs" (direct quote from the pulmo doc). It was Pseudo A. that caused that infection, which is what I always culture. I just saw mom last weekend and I am worried I may have given her another lung infection. <img src="i/expressions/face-icon-small-sad.gif" border="0"> I know it is hard to transmit infections from us cystics to a "healty" person, but this is happening so often it is obvious that she is somehow compromised.
 
 Mom has a LOT of symptoms of CF. Sweat test last year was negative and a basic CF genetic screen (only 25 mutations looked at) said DF508, carrier. My mutations are DF508 and DF501 (can't find any info online about DF501). The test they gave mom would have shown me as only a carrier because they didn't test for DF501, but I DEFINITELY have CF. Mom was on the fence about getting a full test because part of her just doesn't want to know if she has CF (depression?) despite the fact she could get better treatment.
 
 Does anyone know if DF508 carriers show a lot of signs and symptoms of CF. Sinus, digestive and lung. Should I push mom to get a full test? And if so, how can I convince her?
 
 Thanks a bunch!

lightNlife · May 16, 2008

Interesting you should ask about this today. There are some conditions that are VERY similar to CF. Here's a link to an article about the possibilities:

<a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/2008/05/mixed-messages-when-sweat-test-is.html">Mixed Messages: When the Sweat Test is Negative but the Symptoms Look like CF</a>

Also, I know I'm going to get some flak for saying this because some people believe strongly that there are symptomatic carriers...but...

I recently interviewed Dr. Francis Collins, M.D., Ph.D., the head of the Human Genome Project and asked him point blank about whether there is such a thing as a symptomatic carrier of CF. He said "No." Symptomatic carriers are really just exhibiting symptoms of some other disease or condition and should undergo a full genetic screening to be absolutely CERTAIN that CF is not the cause of the symptoms.

Also, there are a number of conditions that are similar to CF. Please see the article I linked to earlier in the post.

I hope that helps!

lightNlife · May 16, 2008

Interesting you should ask about this today. There are some conditions that are VERY similar to CF. Here's a link to an article about the possibilities:

<a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/2008/05/mixed-messages-when-sweat-test-is.html">Mixed Messages: When the Sweat Test is Negative but the Symptoms Look like CF</a>

Also, I know I'm going to get some flak for saying this because some people believe strongly that there are symptomatic carriers...but...

I recently interviewed Dr. Francis Collins, M.D., Ph.D., the head of the Human Genome Project and asked him point blank about whether there is such a thing as a symptomatic carrier of CF. He said "No." Symptomatic carriers are really just exhibiting symptoms of some other disease or condition and should undergo a full genetic screening to be absolutely CERTAIN that CF is not the cause of the symptoms.

Also, there are a number of conditions that are similar to CF. Please see the article I linked to earlier in the post.

I hope that helps!

lightNlife · May 16, 2008

Interesting you should ask about this today. There are some conditions that are VERY similar to CF. Here's a link to an article about the possibilities:

<a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/2008/05/mixed-messages-when-sweat-test-is.html">Mixed Messages: When the Sweat Test is Negative but the Symptoms Look like CF</a>

Also, I know I'm going to get some flak for saying this because some people believe strongly that there are symptomatic carriers...but...

I recently interviewed Dr. Francis Collins, M.D., Ph.D., the head of the Human Genome Project and asked him point blank about whether there is such a thing as a symptomatic carrier of CF. He said "No." Symptomatic carriers are really just exhibiting symptoms of some other disease or condition and should undergo a full genetic screening to be absolutely CERTAIN that CF is not the cause of the symptoms.

Also, there are a number of conditions that are similar to CF. Please see the article I linked to earlier in the post.

I hope that helps!

lightNlife · May 16, 2008

Interesting you should ask about this today. There are some conditions that are VERY similar to CF. Here's a link to an article about the possibilities:

<a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/2008/05/mixed-messages-when-sweat-test-is.html">Mixed Messages: When the Sweat Test is Negative but the Symptoms Look like CF</a>

Also, I know I'm going to get some flak for saying this because some people believe strongly that there are symptomatic carriers...but...

I recently interviewed Dr. Francis Collins, M.D., Ph.D., the head of the Human Genome Project and asked him point blank about whether there is such a thing as a symptomatic carrier of CF. He said "No." Symptomatic carriers are really just exhibiting symptoms of some other disease or condition and should undergo a full genetic screening to be absolutely CERTAIN that CF is not the cause of the symptoms.

Also, there are a number of conditions that are similar to CF. Please see the article I linked to earlier in the post.

I hope that helps!

lightNlife · May 16, 2008

Interesting you should ask about this today. There are some conditions that are VERY similar to CF. Here's a link to an article about the possibilities:
 
 <a target=_blank class=ftalternatingbarlinklarge href="http://understandingcysticfibrosis.blogspot.com/2008/05/mixed-messages-when-sweat-test-is.html">Mixed Messages: When the Sweat Test is Negative but the Symptoms Look like CF</a>
 
 Also, I know I'm going to get some flak for saying this because some people believe strongly that there are symptomatic carriers...but...
 
 I recently interviewed Dr. Francis Collins, M.D., Ph.D., the head of the Human Genome Project and asked him point blank about whether there is such a thing as a symptomatic carrier of CF. He said "No." Symptomatic carriers are really just exhibiting symptoms of some other disease or condition and should undergo a full genetic screening to be absolutely CERTAIN that CF is not the cause of the symptoms.
 
 Also, there are a number of conditions that are similar to CF. Please see the article I linked to earlier in the post.
 
 I hope that helps!

2005CFmom · May 16, 2008

SaltyAndSweet,

I'll try to give you a quick explaination of our situtation.

My husband, who also carries the DF508 gene, was diagnosed with bronchiectatsis 2 years after my daughter was diagnosed with CF. Honestly, if our daughter did not get the CF diagnosis we would probably think that he had "productive" asthma, allergies and sinus polyps. But because he was exhibiting some symptoms of CF we really pushed for all the testing we could.

His sweat test was 18
His Ambry genetics came back as only a carrier.

So, he still only has the diagnosis of bronchiectasis. But he has started to see a CF doctor (not on clinic days, just as a "regular" patient.) His doctor thinks that there is a very good chance that his issues are CF related.

My daughters CF doctor mentioned that the actual CFTR function of carriers has been studied in some people, and it was found to be reduced. Not as reduced as it would be with actually having CF, but below normal levels. So he believes that could play a part in the whole "symptomic carrier" debate.

Anyway, I hope what I typed makes sense...If it's too confusing just let me know and I will try to explain it better.

2005CFmom · May 16, 2008

SaltyAndSweet,

I'll try to give you a quick explaination of our situtation.

My husband, who also carries the DF508 gene, was diagnosed with bronchiectatsis 2 years after my daughter was diagnosed with CF. Honestly, if our daughter did not get the CF diagnosis we would probably think that he had "productive" asthma, allergies and sinus polyps. But because he was exhibiting some symptoms of CF we really pushed for all the testing we could.

His sweat test was 18
His Ambry genetics came back as only a carrier.

So, he still only has the diagnosis of bronchiectasis. But he has started to see a CF doctor (not on clinic days, just as a "regular" patient.) His doctor thinks that there is a very good chance that his issues are CF related.

My daughters CF doctor mentioned that the actual CFTR function of carriers has been studied in some people, and it was found to be reduced. Not as reduced as it would be with actually having CF, but below normal levels. So he believes that could play a part in the whole "symptomic carrier" debate.

Anyway, I hope what I typed makes sense...If it's too confusing just let me know and I will try to explain it better.

2005CFmom · May 16, 2008

SaltyAndSweet,

I'll try to give you a quick explaination of our situtation.

My husband, who also carries the DF508 gene, was diagnosed with bronchiectatsis 2 years after my daughter was diagnosed with CF. Honestly, if our daughter did not get the CF diagnosis we would probably think that he had "productive" asthma, allergies and sinus polyps. But because he was exhibiting some symptoms of CF we really pushed for all the testing we could.

His sweat test was 18
His Ambry genetics came back as only a carrier.

So, he still only has the diagnosis of bronchiectasis. But he has started to see a CF doctor (not on clinic days, just as a "regular" patient.) His doctor thinks that there is a very good chance that his issues are CF related.

My daughters CF doctor mentioned that the actual CFTR function of carriers has been studied in some people, and it was found to be reduced. Not as reduced as it would be with actually having CF, but below normal levels. So he believes that could play a part in the whole "symptomic carrier" debate.

Anyway, I hope what I typed makes sense...If it's too confusing just let me know and I will try to explain it better.

2005CFmom · May 16, 2008

SaltyAndSweet,

I'll try to give you a quick explaination of our situtation.

My husband, who also carries the DF508 gene, was diagnosed with bronchiectatsis 2 years after my daughter was diagnosed with CF. Honestly, if our daughter did not get the CF diagnosis we would probably think that he had "productive" asthma, allergies and sinus polyps. But because he was exhibiting some symptoms of CF we really pushed for all the testing we could.

His sweat test was 18
His Ambry genetics came back as only a carrier.

So, he still only has the diagnosis of bronchiectasis. But he has started to see a CF doctor (not on clinic days, just as a "regular" patient.) His doctor thinks that there is a very good chance that his issues are CF related.

My daughters CF doctor mentioned that the actual CFTR function of carriers has been studied in some people, and it was found to be reduced. Not as reduced as it would be with actually having CF, but below normal levels. So he believes that could play a part in the whole "symptomic carrier" debate.

Anyway, I hope what I typed makes sense...If it's too confusing just let me know and I will try to explain it better.

2005CFmom · May 16, 2008

SaltyAndSweet,
 
 I'll try to give you a quick explaination of our situtation.

My husband, who also carries the DF508 gene, was diagnosed with bronchiectatsis 2 years after my daughter was diagnosed with CF. Honestly, if our daughter did not get the CF diagnosis we would probably think that he had "productive" asthma, allergies and sinus polyps. But because he was exhibiting some symptoms of CF we really pushed for all the testing we could.
 
 His sweat test was 18
 His Ambry genetics came back as only a carrier.
 
 So, he still only has the diagnosis of bronchiectasis. But he has started to see a CF doctor (not on clinic days, just as a "regular" patient.) His doctor thinks that there is a very good chance that his issues are CF related.
 
 My daughters CF doctor mentioned that the actual CFTR function of carriers has been studied in some people, and it was found to be reduced. Not as reduced as it would be with actually having CF, but below normal levels. So he believes that could play a part in the whole "symptomic carrier" debate.
 
 Anyway, I hope what I typed makes sense...If it's too confusing just let me know and I will try to explain it better.

lightNlife · May 16, 2008

Here are the most common diseases that present with symptoms very similar to cystic fibrosis:

Shwachman-Diamond Syndrome (www.shwachman-diamond.org)

Diagnosed by: blood test or genetic test

* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test

Celiac Disease (www.celiac.org)

Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet

* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility

Primary Ciliary Diskinesia

Diagnosed by: biopsy of lung or sinus tissue

* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility

Alpha-1 Antitrypsin Deficiency

Diagnosed by: simple blood test

* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis

lightNlife · May 16, 2008

Here are the most common diseases that present with symptoms very similar to cystic fibrosis:

Shwachman-Diamond Syndrome (www.shwachman-diamond.org)

Diagnosed by: blood test or genetic test

* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test

Celiac Disease (www.celiac.org)

Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet

* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility

Primary Ciliary Diskinesia

Diagnosed by: biopsy of lung or sinus tissue

* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility

Alpha-1 Antitrypsin Deficiency

Diagnosed by: simple blood test

* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis

lightNlife · May 16, 2008

Here are the most common diseases that present with symptoms very similar to cystic fibrosis:

Shwachman-Diamond Syndrome (www.shwachman-diamond.org)

Diagnosed by: blood test or genetic test

* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test

Celiac Disease (www.celiac.org)

Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet

* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility

Primary Ciliary Diskinesia

Diagnosed by: biopsy of lung or sinus tissue

* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility

Alpha-1 Antitrypsin Deficiency

Diagnosed by: simple blood test

* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis

lightNlife · May 16, 2008

Here are the most common diseases that present with symptoms very similar to cystic fibrosis:

Shwachman-Diamond Syndrome (www.shwachman-diamond.org)

Diagnosed by: blood test or genetic test

* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test

Celiac Disease (www.celiac.org)

Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet

* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility

Primary Ciliary Diskinesia

Diagnosed by: biopsy of lung or sinus tissue

* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility

Alpha-1 Antitrypsin Deficiency

Diagnosed by: simple blood test

* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis

lightNlife · May 16, 2008

Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
 
 Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
 
 Diagnosed by: blood test or genetic test
 
 * failure to thrive
 * feeding problems
 * recurrent infections
 * slow growth
 * Diarrhea with fatty, oily loose stools
 * Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
 * Enlarged liver
 * Diabetes mellitus
 * Abnormal pulmonary function test
 
 Celiac Disease (www.celiac.org)
 
 Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
 
 * Recurring bloating, gas or abdominal pain
 * Chronic diarrhea or constipation or both
 * Unexplained weight loss
 * Pale, foul-smelling stool
 * Anemia
 * Vitamin K deficiency
 * Fatigue
 * Failure to Thrive (infants)
 * Male infertility
 
 Primary Ciliary Diskinesia
 
 Diagnosed by: biopsy of lung or sinus tissue
 
 * Chronic sinusitis
 * Bronchiectasis
 * Susceptibility to pneumonia and lung infections
 * Male infertility
 
 Alpha-1 Antitrypsin Deficiency
 
 Diagnosed by: simple blood test
 
 * Impaired liver function
 * Recurrent lung infections
 * Airway inflammation
 * Hemoptysis
 * Swollen abdomen due to enlarged liver
 * Wheezing and shortness of breath
 * Chronic cough
 * Bronchiectasis

DF508 carriers and bad CF symptoms

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