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Anyone with single mutation w/CF symptoms?
- Thread starter fkewatson
- Start date
mjflowergirl
New member
I know this post is a few months old... but I wanted to comment just... well, because. ha!
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
mjflowergirl
New member
I know this post is a few months old... but I wanted to comment just... well, because. ha!
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
mjflowergirl
New member
I know this post is a few months old... but I wanted to comment just... well, because. ha!
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
mjflowergirl
New member
I know this post is a few months old... but I wanted to comment just... well, because. ha!
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
mjflowergirl
New member
I know this post is a few months old... but I wanted to comment just... well, because. ha!
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
My son was born Double Delta without either my husband or I knowing about our carrier status. We both have children from previous marriages without an issue (we now know that my daughter from previously is a carrier, though). Anyhoo... obviously we both carry the one deletion of delta f508. I specifically asked the pulmonologist about the carrier experiencing mild or limited symptoms of the disease and she said "it's not entirely impossible, but very unlikely." My hubby has a HORRIBLE cough every day that brings up odd colored mucous sometimes tinged with blood (ewww, I know)... and sometimes the cough even gets so violent that it makes him gag and vomit. Again, sorry for the TMI... He also gets chest pains occasionally that are associated with his breathing. In addition to that, his entire family has sinus problems and a few have had surgery to remove nasal polyps.
On my side, I have had pancreatitis twice in my life, pyelonephritis (both requiring hospitalization and IV antibiotics), and am predisposed to get bronchitis or a severe lung infection every winter- never fails. I also have inconsistent bowel issues and intestinal pains after eating that have never been explained or diagnosed as anything besides "irritable bowel." Which I think is a cover-up for the doctor(s) not being able to really figure out what's wrong... but that's another post.
So, I am a definite believer in the carrier symptoms. While they may not be defined or diagnosed as the actual disease because the person lacks the second mutation, I think it's possible to experience symptoms. As carriers, we still have a mutation in our genes, why isn't it possible that it causes issues related to the single mutation? And doesn't it make sense that the issues would be related to the disease that we have "half" of? Ok... that was a long shot statement... but you get the point.
MJ
Article on idiopathic pancreatitis and CFTR gene see <a target=_blank class=ftalternatingbarlinklarge href="http://content.nejm.org/cgi/content/abstract/339/10/653">http://content.nejm.org/cgi/content/abstract/339/10/653</a> .
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
Article on idiopathic pancreatitis and CFTR gene see <a target=_blank class=ftalternatingbarlinklarge href="http://content.nejm.org/cgi/content/abstract/339/10/653">http://content.nejm.org/cgi/content/abstract/339/10/653</a> .
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
Article on idiopathic pancreatitis and CFTR gene see <a target=_blank class=ftalternatingbarlinklarge href="http://content.nejm.org/cgi/content/abstract/339/10/653">http://content.nejm.org/cgi/content/abstract/339/10/653</a> .
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
Article on idiopathic pancreatitis and CFTR gene see <a target=_blank class=ftalternatingbarlinklarge href="http://content.nejm.org/cgi/content/abstract/339/10/653">http://content.nejm.org/cgi/content/abstract/339/10/653</a> .
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
Article on idiopathic pancreatitis and CFTR gene see <a target=_blank class=ftalternatingbarlinklarge href="http://content.nejm.org/cgi/content/abstract/339/10/653">http://content.nejm.org/cgi/content/abstract/339/10/653</a> .
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
My late husband's brother has been dx'd with idiopathic pancreatitis but not CF. (But with the 2 of them so sick, I am still suspicious there's an unknown gene out there.)
I am not sure of my mutation at all. However what I do know is that on my fathers side of the family there are not many symptoms except my father. He had asthma when he was a small child and contracted tuberculosis later. He also has had intestinal issues his whole life and after an injury to the stomach developed diverticulosis or diverticulitis I forget which. Then on my mothers side of the family there were several people diagnosed with irritable bown and crohns disease. Now here is where it gets really *interesting* My parents did not even grow up in the same state. They met for the first time when they were 16 and 17. It turned out that they were 4th cousins. They never knew this until I was dx at 4 yrs old. When they found out that what I had was genetic it inspired them to look into the family history to see if anyone else had similar symptoms. This is where they found the common link. A great great great.... (however many greats it was) grandmother. So yes I guess all in all I am a child of incest or as I like to call it consanguination... but I always thought it was pretty funny how one side of the family had pulmonary symptoms and the other side had intestinal symptoms.
Well thats my story and Im sticking to it!! LOL
Well thats my story and Im sticking to it!! LOL
I am not sure of my mutation at all. However what I do know is that on my fathers side of the family there are not many symptoms except my father. He had asthma when he was a small child and contracted tuberculosis later. He also has had intestinal issues his whole life and after an injury to the stomach developed diverticulosis or diverticulitis I forget which. Then on my mothers side of the family there were several people diagnosed with irritable bown and crohns disease. Now here is where it gets really *interesting* My parents did not even grow up in the same state. They met for the first time when they were 16 and 17. It turned out that they were 4th cousins. They never knew this until I was dx at 4 yrs old. When they found out that what I had was genetic it inspired them to look into the family history to see if anyone else had similar symptoms. This is where they found the common link. A great great great.... (however many greats it was) grandmother. So yes I guess all in all I am a child of incest or as I like to call it consanguination... but I always thought it was pretty funny how one side of the family had pulmonary symptoms and the other side had intestinal symptoms.
Well thats my story and Im sticking to it!! LOL
Well thats my story and Im sticking to it!! LOL
I am not sure of my mutation at all. However what I do know is that on my fathers side of the family there are not many symptoms except my father. He had asthma when he was a small child and contracted tuberculosis later. He also has had intestinal issues his whole life and after an injury to the stomach developed diverticulosis or diverticulitis I forget which. Then on my mothers side of the family there were several people diagnosed with irritable bown and crohns disease. Now here is where it gets really *interesting* My parents did not even grow up in the same state. They met for the first time when they were 16 and 17. It turned out that they were 4th cousins. They never knew this until I was dx at 4 yrs old. When they found out that what I had was genetic it inspired them to look into the family history to see if anyone else had similar symptoms. This is where they found the common link. A great great great.... (however many greats it was) grandmother. So yes I guess all in all I am a child of incest or as I like to call it consanguination... but I always thought it was pretty funny how one side of the family had pulmonary symptoms and the other side had intestinal symptoms.
Well thats my story and Im sticking to it!! LOL
Well thats my story and Im sticking to it!! LOL
I am not sure of my mutation at all. However what I do know is that on my fathers side of the family there are not many symptoms except my father. He had asthma when he was a small child and contracted tuberculosis later. He also has had intestinal issues his whole life and after an injury to the stomach developed diverticulosis or diverticulitis I forget which. Then on my mothers side of the family there were several people diagnosed with irritable bown and crohns disease. Now here is where it gets really *interesting* My parents did not even grow up in the same state. They met for the first time when they were 16 and 17. It turned out that they were 4th cousins. They never knew this until I was dx at 4 yrs old. When they found out that what I had was genetic it inspired them to look into the family history to see if anyone else had similar symptoms. This is where they found the common link. A great great great.... (however many greats it was) grandmother. So yes I guess all in all I am a child of incest or as I like to call it consanguination... but I always thought it was pretty funny how one side of the family had pulmonary symptoms and the other side had intestinal symptoms.
Well thats my story and Im sticking to it!! LOL
Well thats my story and Im sticking to it!! LOL
I am not sure of my mutation at all. However what I do know is that on my fathers side of the family there are not many symptoms except my father. He had asthma when he was a small child and contracted tuberculosis later. He also has had intestinal issues his whole life and after an injury to the stomach developed diverticulosis or diverticulitis I forget which. Then on my mothers side of the family there were several people diagnosed with irritable bown and crohns disease. Now here is where it gets really *interesting* My parents did not even grow up in the same state. They met for the first time when they were 16 and 17. It turned out that they were 4th cousins. They never knew this until I was dx at 4 yrs old. When they found out that what I had was genetic it inspired them to look into the family history to see if anyone else had similar symptoms. This is where they found the common link. A great great great.... (however many greats it was) grandmother. So yes I guess all in all I am a child of incest or as I like to call it consanguination... but I always thought it was pretty funny how one side of the family had pulmonary symptoms and the other side had intestinal symptoms.
Well thats my story and Im sticking to it!! LOL
Well thats my story and Im sticking to it!! LOL
Yes! My daughter has one mutation Df508--Amrby amplified panel--
I was told she is a "carrier" and not to worry about it anymore.
I cannot accept it.. it just does not add up.. she hardly grows, she has chronic ENT issues, and they tell me she just has "asthma". I don't buy it.. I wonder if she has another less common mutation, that is not necessarily disease causing (CF) but causes carriers like her, to be symptomatic ? or maybe she does have atypical CF, but cannot identify it because there are too many to test for? Please tell me your story!
I was told she is a "carrier" and not to worry about it anymore.
I cannot accept it.. it just does not add up.. she hardly grows, she has chronic ENT issues, and they tell me she just has "asthma". I don't buy it.. I wonder if she has another less common mutation, that is not necessarily disease causing (CF) but causes carriers like her, to be symptomatic ? or maybe she does have atypical CF, but cannot identify it because there are too many to test for? Please tell me your story!
Yes! My daughter has one mutation Df508--Amrby amplified panel--
I was told she is a "carrier" and not to worry about it anymore.
I cannot accept it.. it just does not add up.. she hardly grows, she has chronic ENT issues, and they tell me she just has "asthma". I don't buy it.. I wonder if she has another less common mutation, that is not necessarily disease causing (CF) but causes carriers like her, to be symptomatic ? or maybe she does have atypical CF, but cannot identify it because there are too many to test for? Please tell me your story!
I was told she is a "carrier" and not to worry about it anymore.
I cannot accept it.. it just does not add up.. she hardly grows, she has chronic ENT issues, and they tell me she just has "asthma". I don't buy it.. I wonder if she has another less common mutation, that is not necessarily disease causing (CF) but causes carriers like her, to be symptomatic ? or maybe she does have atypical CF, but cannot identify it because there are too many to test for? Please tell me your story!