what are the chances of having two rare CF genes?

[Mistyjo]

I was just wanting to know what are the chances of someone having two rare CF genes?  I will give you a brief history.  I've posted on different forums here regarding the testing we are going through for my daughter.
History:  chronic constipation since birth has a redundant colon don't know if she was born with it or if she developed it from the constipation.
              Diagnosed failure to thrive twice in her life.  Her BMI is 3%. 
             Lots of respiratory infections the first two years of life, but hardly any now.  She does have croup about 2x a year.  
 Tests she had done:  two sweat chloride test first one 41, second was 50.
                                    fecal elastase is normal so no answer for failure to thrive
                                   genetic test shows none of the most common 92 mutations
                                    waiting for the rest of the genetic testing to come back
                                     blood work showed low vitamin D
Family hx:     Grandmother (maternal) cousin had CF
                     Maternal Grandmother had pulmonary fibrosis with sever GI probs
I never considered the possibility of CF until after her second sweat test came back borderline.
What do you think the chances are she has two rare CF mutations?
Thank you for any help, the waiting is driving me crazy!
                           

 

[Mistyjo]

I was just wanting to know what are the chances of someone having two rare CF genes? I will give you a brief history. I've posted on different forums here regarding the testing we are going through for my daughter.
History: chronic constipation since birth has a redundant colon don't know if she was born with it or if she developed it from the constipation.
Diagnosed failure to thrive twice in her life. Her BMI is 3%.
Lots of respiratory infections the first two years of life, but hardly any now. She does have croup about 2x a year.
Tests she had done: two sweat chloride test first one 41, second was 50.
fecal elastase is normal so no answer for failure to thrive
genetic test shows none of the most common 92 mutations
waiting for the rest of the genetic testing to come back
blood work showed low vitamin D
Family hx:Grandmother (maternal)cousin had CF
Maternal Grandmother had pulmonary fibrosis with sever GI probs
I never considered the possibility of CF until after her second sweat test came back borderline.
What do you think the chances are she has two rare CF mutations?
Thank you for any help, the waiting is driving me crazy!

 

[Mistyjo]

<p>I was just wanting to know what are the chances of someone having two rare CF genes? I will give you a brief history. I've posted on different forums here regarding the testing we are going through for my daughter.
<p>History: chronic constipation since birth has a redundant colon don't know if she was born with it or if she developed it from the constipation.
<p> Diagnosed failure to thrive twice in her life. Her BMI is 3%.
<p> Lots of respiratory infections the first two years of life, but hardly any now. She does have croup about 2x a year.
<p>Tests she had done: two sweat chloride test first one 41, second was 50.
<p> fecal elastase is normal so no answer for failure to thrive
<p> genetic test shows none of the most common 92 mutations
<p>waiting for the rest of the genetic testing to come back
<p>blood work showed low vitamin D
<p>Family hx:Grandmother (maternal)cousin had CF
<p> Maternal Grandmother had pulmonary fibrosis with sever GI probs
<p>I never considered the possibility of CF until after her second sweat test came back borderline.
<p>What do you think the chances are she has two rare CF mutations?
<p>Thank you for any help, the waiting is driving me crazy!
<p>

 

[Fancymushroom]

Did the grandmothers cousin know their genes?
I'm not sure what to say.. seeing as I've had borderline - positive sweat tests and low elastase in stool samples, so I have a clinical dx of CF without knowing my genes. I don't have any of the top 92 either, but bc I'm in the UK, they don't do the full spectrum as often as you do in the USA. So I'm treated for CF and have pretty much all the symptoms, just atypical. So yes, it's definately definately possible, just unusual. The rarer genes are often associated with a normal pancreas at least until later life. I only starting getting GI problems when I was a teenager although I have always been very petite. There are ALOT of things which cause constipation and failure to thrive and you will find out eventually, CF or not. Sorry I can't help more! Has she been ruled out for celiac disease and other food allergies? X

 

[Fancymushroom]

Did the grandmothers cousin know their genes?
I'm not sure what to say.. seeing as I've had borderline - positive sweat tests and low elastase in stool samples, so I have a clinical dx of CF without knowing my genes. I don't have any of the top 92 either, but bc I'm in the UK, they don't do the full spectrum as often as you do in the USA. So I'm treated for CF and have pretty much all the symptoms, just atypical. So yes, it's definately definately possible, just unusual. The rarer genes are often associated with a normal pancreas at least until later life. I only starting getting GI problems when I was a teenager although I have always been very petite. There are ALOT of things which cause constipation and failure to thrive and you will find out eventually, CF or not. Sorry I can't help more! Has she been ruled out for celiac disease and other food allergies? X

 

[Fancymushroom]

Did the grandmothers cousin know their genes?
<br />I'm not sure what to say.. seeing as I've had borderline - positive sweat tests and low elastase in stool samples, so I have a clinical dx of CF without knowing my genes. I don't have any of the top 92 either, but bc I'm in the UK, they don't do the full spectrum as often as you do in the USA. So I'm treated for CF and have pretty much all the symptoms, just atypical. So yes, it's definately definately possible, just unusual. The rarer genes are often associated with a normal pancreas at least until later life. I only starting getting GI problems when I was a teenager although I have always been very petite. There are ALOT of things which cause constipation and failure to thrive and you will find out eventually, CF or not. Sorry I can't help more! Has she been ruled out for celiac disease and other food allergies? X

 

[just1more]

Understand rare is a vague label. Being one of the 92 makes it more common, but the 1400 others occur so together they make up a decent % of the total mutations found.

Based upon what you describe my thoughts (if I were a betting man) are:

1) your grandmother most likely had CF and was just not diagnosed, not that uncommon given the time-frame since the diagnosis would have been on symptoms alone and since she lived long enough to have kids she didn't fit the profile.
2) Thus combined with the clinical history you have seen so-far, it would be very likely that you passed a CF gene to your daughter, though one of the 1400 non-common ones.
3) The question is did she also get one from her father; and what mutation.

The answer to #3 will determine if she technically has CF or not. Nobody can tell you the odds of finding 2 mutations, so you will have to wait for the test results. SORRY!

 

[just1more]

Understand rare is a vague label. Being one of the 92 makes it more common, but the 1400 others occur so together they make up a decent % of the total mutations found.

Based upon what you describe my thoughts (if I were a betting man) are:

1) your grandmother most likely had CF and was just not diagnosed, not that uncommon given the time-frame since the diagnosis would have been on symptoms alone and since she lived long enough to have kids she didn't fit the profile.
2) Thus combined with the clinical history you have seen so-far, it would be very likely that you passed a CF gene to your daughter, though one of the 1400 non-common ones.
3) The question is did she also get one from her father; and what mutation.

The answer to #3 will determine if she technically has CF or not. Nobody can tell you the odds of finding 2 mutations, so you will have to wait for the test results. SORRY!

 

[just1more]

Understand rare is a vague label. Being one of the 92 makes it more common, but the 1400 others occur so together they make up a decent % of the total mutations found.
<br />
<br />Based upon what you describe my thoughts (if I were a betting man) are:
<br />
<br />1) your grandmother most likely had CF and was just not diagnosed, not that uncommon given the time-frame since the diagnosis would have been on symptoms alone and since she lived long enough to have kids she didn't fit the profile.
<br />2) Thus combined with the clinical history you have seen so-far, it would be very likely that you passed a CF gene to your daughter, though one of the 1400 non-common ones.
<br />3) The question is did she also get one from her father; and what mutation.
<br />
<br />The answer to #3 will determine if she technically has CF or not. Nobody can tell you the odds of finding 2 mutations, so you will have to wait for the test results. SORRY!

 

[Mistyjo]

Thank you so much for responding. Any ideas, advice or experience is greatly appreciated!!
Just1more, You mean my Mom probably had cf, right? I don't know the mutations my Mom's cousin had. She passed away about 11 years ago. She was diagnosed very late at 43 and died at 46.
My daughter has had tons of blood work checking for food allergies, celiac etc... nothing has ever shown up. We have a reason for the chronic constipation that is the redundant colon, just no real reason for the failure to thrive.

 

[Mistyjo]

Thank you so much for responding. Any ideas, advice or experience is greatly appreciated!!
Just1more, You mean my Mom probably had cf, right? I don't know the mutations my Mom's cousin had. She passed away about 11 years ago. She was diagnosed very late at 43 and died at 46.
My daughter has had tons of blood work checking for food allergies, celiac etc... nothing has ever shown up. We have a reason for the chronic constipation that is the redundant colon, just no real reason for the failure to thrive.

 

[Mistyjo]

Thank you so much for responding. Any ideas, advice or experience is greatly appreciated!!
<br />Just1more, You mean my Mom probably had cf, right? I don't know the mutations my Mom's cousin had. She passed away about 11 years ago. She was diagnosed very late at 43 and died at 46.
<br />My daughter has had tons of blood work checking for food allergies, celiac etc... nothing has ever shown up. We have a reason for the chronic constipation that is the redundant colon, just no real reason for the failure to thrive.

 

[just1more]

Yes, sorry that was a typo on my part. If she had a cousin known to have CF, and both pulmo & GI issues I'd personally guess CF. If you daughter has CF, then you have a mutation (carrier) meaning you got it from one of your parents. The most likely would be your mother and if I had to guess if she was a carrier or had CF from what you describe I'd call it CF. BUT I'm not a Dr so it is just my guess. FYI, based upon the timing you give, your mom was dx'd around 97ish, whereas the first DNA test approved for use for CF was in 2005.

 

[just1more]

Yes, sorry that was a typo on my part. If she had a cousin known to have CF, and both pulmo & GI issues I'd personally guess CF. If you daughter has CF, then you have a mutation (carrier) meaning you got it from one of your parents. The most likely would be your mother and if I had to guess if she was a carrier or had CF from what you describe I'd call it CF. BUT I'm not a Dr so it is just my guess. FYI, based upon the timing you give, your mom was dx'd around 97ish, whereas the first DNA test approved for use for CF was in 2005.

 

[just1more]

<p>Yes, sorry that was a typo on my part. If she had a cousin known to have CF, and both pulmo & GI issues I'd personally guess CF. If you daughter has CF, then you have a mutation (carrier) meaning you got it from one of your parents. The most likely would be your mother and if I had to guess if she was a carrier or had CF from what you describe I'd call it CF. BUT I'm not a Dr so it is just my guess. <br /> <br />FYI, based upon the timing you give, your mom was dx'd around 97ish, whereas the first DNA test approved for use for CF was in 2005.

 

[Mistyjo]

Thanks so much for your feedback...still waiting for the results. My Mom and her sister definitely had a lot of symptoms that goes along with CF. She also had chronic pnuemonia prior to diagnosis of pulmonary fibrosis.

 

[Mistyjo]

Thanks so much for your feedback...still waiting for the results. My Mom and her sister definitely had a lot of symptoms that goes along with CF. She also had chronic pnuemonia prior to diagnosis of pulmonary fibrosis.

 

[Mistyjo]

Thanks so much for your feedback...still waiting for the results. My Mom and her sister definitely had a lot of symptoms that goes along with CF. She also had chronic pnuemonia prior to diagnosis of pulmonary fibrosis.

 

[auntcob]

My son went through quite a lengthy dx process--started with persistent diarrhea--8-10x a day. This did not begin until he was 13. Every inch of his digestive system was scanned and biopsied. He became too weak to go to school for several months. I finally persuaded his doc to order CF full sequence screening. First 92 came back normal; both sweat tests borderline; fecal elastase normal. When the full panel came back, he showed two mutations, one which was labeled benign. He received a dx of atypical CF in Feb. 2010. Had a second opinion at Hopkins--confirmed dx with NPD.

In short, I think it is not unusual to have two rare mutations. With an estimated 30,000 people with CF and 1800 mutations identified, many folks probably have mutations that are relatively rare. At any rate, hope you find answers and your daughter can begin to receive treatment. Finding out Adam had CF was tough; but he has improved so much since beginning enzymes and doing airway clearance, etc.

Best wishes.

 

[auntcob]

My son went through quite a lengthy dx process--started with persistent diarrhea--8-10x a day. This did not begin until he was 13. Every inch of his digestive system was scanned and biopsied. He became too weak to go to school for several months. I finally persuaded his doc to order CF full sequence screening. First 92 came back normal; both sweat tests borderline; fecal elastase normal. When the full panel came back, he showed two mutations, one which was labeled benign. He received a dx of atypical CF in Feb. 2010. Had a second opinion at Hopkins--confirmed dx with NPD.

In short, I think it is not unusual to have two rare mutations. With an estimated 30,000 people with CF and 1800 mutations identified, many folks probably have mutations that are relatively rare. At any rate, hope you find answers and your daughter can begin to receive treatment. Finding out Adam had CF was tough; but he has improved so much since beginning enzymes and doing airway clearance, etc.

Best wishes.