Anyone with single mutation w/CF symptoms?

clawson5104 · Jul 2, 2007

well, my son has only one known mutation and the 5T alelle. and from what i've been told it's like having 2 mild mutations. either way he is symptomatic. his mutation is supposed to be associated with pancreatic, and reproductive parts. but all of his symptoms started with respiratory problems. he had some but not severe digestive issues, reflux, not gaining weight (finally made it on growth chart last week at 7%) very poor appetite until recently, but his elastese test, and fat tests all came back good. he was not digesting vitamin A, but new gastro doc said, may be not even eating enough to accurately determine vitamin A issues, how can that be.....lol. sooo hard to say. i can say, he is still a little wheezy and sometimes "cruddy" in the respiratory department, snores like i do!!!! but since breathing treatments were increased, and CPT began, I can definitely see a huge difference, even acts like he feels better, eats better and everything. he is extremely active, never stopping, and yet......has barely any vocabulary, i'd say 10 words. if that. but gestures for his needs. hope that helps.

clawson5104 · Jul 2, 2007

well, my son has only one known mutation and the 5T alelle. and from what i've been told it's like having 2 mild mutations. either way he is symptomatic. his mutation is supposed to be associated with pancreatic, and reproductive parts. but all of his symptoms started with respiratory problems. he had some but not severe digestive issues, reflux, not gaining weight (finally made it on growth chart last week at 7%) very poor appetite until recently, but his elastese test, and fat tests all came back good. he was not digesting vitamin A, but new gastro doc said, may be not even eating enough to accurately determine vitamin A issues, how can that be.....lol. sooo hard to say. i can say, he is still a little wheezy and sometimes "cruddy" in the respiratory department, snores like i do!!!! but since breathing treatments were increased, and CPT began, I can definitely see a huge difference, even acts like he feels better, eats better and everything. he is extremely active, never stopping, and yet......has barely any vocabulary, i'd say 10 words. if that. but gestures for his needs. hope that helps.

clawson5104 · Jul 2, 2007

well, my son has only one known mutation and the 5T alelle. and from what i've been told it's like having 2 mild mutations. either way he is symptomatic. his mutation is supposed to be associated with pancreatic, and reproductive parts. but all of his symptoms started with respiratory problems. he had some but not severe digestive issues, reflux, not gaining weight (finally made it on growth chart last week at 7%) very poor appetite until recently, but his elastese test, and fat tests all came back good. he was not digesting vitamin A, but new gastro doc said, may be not even eating enough to accurately determine vitamin A issues, how can that be.....lol. sooo hard to say. i can say, he is still a little wheezy and sometimes "cruddy" in the respiratory department, snores like i do!!!! but since breathing treatments were increased, and CPT began, I can definitely see a huge difference, even acts like he feels better, eats better and everything. he is extremely active, never stopping, and yet......has barely any vocabulary, i'd say 10 words. if that. but gestures for his needs. hope that helps.

clawson5104 · Jul 2, 2007

well, my son has only one known mutation and the 5T alelle. and from what i've been told it's like having 2 mild mutations. either way he is symptomatic. his mutation is supposed to be associated with pancreatic, and reproductive parts. but all of his symptoms started with respiratory problems. he had some but not severe digestive issues, reflux, not gaining weight (finally made it on growth chart last week at 7%) very poor appetite until recently, but his elastese test, and fat tests all came back good. he was not digesting vitamin A, but new gastro doc said, may be not even eating enough to accurately determine vitamin A issues, how can that be.....lol. sooo hard to say. i can say, he is still a little wheezy and sometimes "cruddy" in the respiratory department, snores like i do!!!! but since breathing treatments were increased, and CPT began, I can definitely see a huge difference, even acts like he feels better, eats better and everything. he is extremely active, never stopping, and yet......has barely any vocabulary, i'd say 10 words. if that. but gestures for his needs. hope that helps.

clawson5104 · Jul 2, 2007

well, my son has only one known mutation and the 5T alelle. and from what i've been told it's like having 2 mild mutations. either way he is symptomatic. his mutation is supposed to be associated with pancreatic, and reproductive parts. but all of his symptoms started with respiratory problems. he had some but not severe digestive issues, reflux, not gaining weight (finally made it on growth chart last week at 7%) very poor appetite until recently, but his elastese test, and fat tests all came back good. he was not digesting vitamin A, but new gastro doc said, may be not even eating enough to accurately determine vitamin A issues, how can that be.....lol. sooo hard to say. i can say, he is still a little wheezy and sometimes "cruddy" in the respiratory department, snores like i do!!!! but since breathing treatments were increased, and CPT began, I can definitely see a huge difference, even acts like he feels better, eats better and everything. he is extremely active, never stopping, and yet......has barely any vocabulary, i'd say 10 words. if that. but gestures for his needs. hope that helps.

clawson5104 · Jul 2, 2007

well, my son has only one known mutation and the 5T alelle. and from what i've been told it's like having 2 mild mutations. either way he is symptomatic. his mutation is supposed to be associated with pancreatic, and reproductive parts. but all of his symptoms started with respiratory problems. he had some but not severe digestive issues, reflux, not gaining weight (finally made it on growth chart last week at 7%) very poor appetite until recently, but his elastese test, and fat tests all came back good. he was not digesting vitamin A, but new gastro doc said, may be not even eating enough to accurately determine vitamin A issues, how can that be.....lol. sooo hard to say. i can say, he is still a little wheezy and sometimes "cruddy" in the respiratory department, snores like i do!!!! but since breathing treatments were increased, and CPT began, I can definitely see a huge difference, even acts like he feels better, eats better and everything. he is extremely active, never stopping, and yet......has barely any vocabulary, i'd say 10 words. if that. but gestures for his needs. hope that helps.

CarrierMama · Jul 5, 2007

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>fkewatson</b></i>

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms?</end quote></div>

I am new here, having come specifically to look for an answer to this question! My brother is CF afflicted and I was determined to be a carrier through prenatal genetic testing. My husband is not a carrier (genetic testing completed), and we have a 6 year-old son who is currently being worked up by an ENT for allergies, chronic non-infectious tonsillitis and suspected chronic non-infectious adenoiditis. During our last visit, the Nurse Practitioner was setting up a PFT for my son, as he occasionally develops a wheeze when he has bronchitis or other URI. She clarified the meaning of PFT to me, and I replied that I was familiar with PFTs as I have a brother with CF. Somehow, this info was NOT already in my son's chart, and she very quickly started jotting down notes about my son, my brother and my husband's and my carrier status. It immediately made me wonder whether she suspected some single-mutation-related symptoms. I had never even thought such things existed, but I am now researching them in earnest (as are the ENT and her Nurse Practitioner!)

I hope we are both able to find some answers, and I look forward to hearing what anyone else has to say on the subject. Thanks for creating this thread!

CarrierMama · Jul 5, 2007

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>fkewatson</b></i>

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms?</end quote></div>

I am new here, having come specifically to look for an answer to this question! My brother is CF afflicted and I was determined to be a carrier through prenatal genetic testing. My husband is not a carrier (genetic testing completed), and we have a 6 year-old son who is currently being worked up by an ENT for allergies, chronic non-infectious tonsillitis and suspected chronic non-infectious adenoiditis. During our last visit, the Nurse Practitioner was setting up a PFT for my son, as he occasionally develops a wheeze when he has bronchitis or other URI. She clarified the meaning of PFT to me, and I replied that I was familiar with PFTs as I have a brother with CF. Somehow, this info was NOT already in my son's chart, and she very quickly started jotting down notes about my son, my brother and my husband's and my carrier status. It immediately made me wonder whether she suspected some single-mutation-related symptoms. I had never even thought such things existed, but I am now researching them in earnest (as are the ENT and her Nurse Practitioner!)

I hope we are both able to find some answers, and I look forward to hearing what anyone else has to say on the subject. Thanks for creating this thread!

CarrierMama · Jul 5, 2007

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>fkewatson</b></i>

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms?</end quote></div>

I am new here, having come specifically to look for an answer to this question! My brother is CF afflicted and I was determined to be a carrier through prenatal genetic testing. My husband is not a carrier (genetic testing completed), and we have a 6 year-old son who is currently being worked up by an ENT for allergies, chronic non-infectious tonsillitis and suspected chronic non-infectious adenoiditis. During our last visit, the Nurse Practitioner was setting up a PFT for my son, as he occasionally develops a wheeze when he has bronchitis or other URI. She clarified the meaning of PFT to me, and I replied that I was familiar with PFTs as I have a brother with CF. Somehow, this info was NOT already in my son's chart, and she very quickly started jotting down notes about my son, my brother and my husband's and my carrier status. It immediately made me wonder whether she suspected some single-mutation-related symptoms. I had never even thought such things existed, but I am now researching them in earnest (as are the ENT and her Nurse Practitioner!)

I hope we are both able to find some answers, and I look forward to hearing what anyone else has to say on the subject. Thanks for creating this thread!

CarrierMama · Jul 5, 2007

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>fkewatson</b></i>

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms?</end quote></div>

I am new here, having come specifically to look for an answer to this question! My brother is CF afflicted and I was determined to be a carrier through prenatal genetic testing. My husband is not a carrier (genetic testing completed), and we have a 6 year-old son who is currently being worked up by an ENT for allergies, chronic non-infectious tonsillitis and suspected chronic non-infectious adenoiditis. During our last visit, the Nurse Practitioner was setting up a PFT for my son, as he occasionally develops a wheeze when he has bronchitis or other URI. She clarified the meaning of PFT to me, and I replied that I was familiar with PFTs as I have a brother with CF. Somehow, this info was NOT already in my son's chart, and she very quickly started jotting down notes about my son, my brother and my husband's and my carrier status. It immediately made me wonder whether she suspected some single-mutation-related symptoms. I had never even thought such things existed, but I am now researching them in earnest (as are the ENT and her Nurse Practitioner!)

I hope we are both able to find some answers, and I look forward to hearing what anyone else has to say on the subject. Thanks for creating this thread!

CarrierMama · Jul 5, 2007

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>fkewatson</b></i>

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms?</end quote>

I am new here, having come specifically to look for an answer to this question! My brother is CF afflicted and I was determined to be a carrier through prenatal genetic testing. My husband is not a carrier (genetic testing completed), and we have a 6 year-old son who is currently being worked up by an ENT for allergies, chronic non-infectious tonsillitis and suspected chronic non-infectious adenoiditis. During our last visit, the Nurse Practitioner was setting up a PFT for my son, as he occasionally develops a wheeze when he has bronchitis or other URI. She clarified the meaning of PFT to me, and I replied that I was familiar with PFTs as I have a brother with CF. Somehow, this info was NOT already in my son's chart, and she very quickly started jotting down notes about my son, my brother and my husband's and my carrier status. It immediately made me wonder whether she suspected some single-mutation-related symptoms. I had never even thought such things existed, but I am now researching them in earnest (as are the ENT and her Nurse Practitioner!)

I hope we are both able to find some answers, and I look forward to hearing what anyone else has to say on the subject. Thanks for creating this thread!

CarrierMama · Jul 5, 2007

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>fkewatson</b></i>

Is there anyone else on this forum with a similar situation of a single deletion/mutation who has CF symptoms?</end quote>

I am new here, having come specifically to look for an answer to this question! My brother is CF afflicted and I was determined to be a carrier through prenatal genetic testing. My husband is not a carrier (genetic testing completed), and we have a 6 year-old son who is currently being worked up by an ENT for allergies, chronic non-infectious tonsillitis and suspected chronic non-infectious adenoiditis. During our last visit, the Nurse Practitioner was setting up a PFT for my son, as he occasionally develops a wheeze when he has bronchitis or other URI. She clarified the meaning of PFT to me, and I replied that I was familiar with PFTs as I have a brother with CF. Somehow, this info was NOT already in my son's chart, and she very quickly started jotting down notes about my son, my brother and my husband's and my carrier status. It immediately made me wonder whether she suspected some single-mutation-related symptoms. I had never even thought such things existed, but I am now researching them in earnest (as are the ENT and her Nurse Practitioner!)

I hope we are both able to find some answers, and I look forward to hearing what anyone else has to say on the subject. Thanks for creating this thread!

fkewatson · Jul 7, 2007