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A WWYD
- Thread starter BarbaraW
- Start date
Harrietts advice is rock solid.
I have cf G551D and my husband also tested negative as a carrier only to find out when my son was sequenced that he passed on S1235R to my son.
I sleep better each night knowing we are caring for our son the best we can whether it's CRMS or CF. Either way, the Vest is not invasive and helps him clear mucus faster than his body could do on its own. And since good respiratory health in my household is so important for me, I appreciate that each time he gets a chest cold he is treated with antibiotics. And not just any abx as a normal child would be but 14 days of one that treats what was in his sputum culture (at age 4 still no PA). Your other children don't sound like CRMS to me. I thought CRMS was based on lack of symptoms...but perhaps the dr is saying CRMS because of the S1235R mutation. We know from this site though not to put much stock in mutations. And if the doctor is saying CRMS because of only 1 mutation I really don't agree with this since there are many cfers on this site alone with only one mutation. What were their sweat test results? I take it those were not clear either otherwise that could be used alone as a diagnostic tool for cf.
I have cf G551D and my husband also tested negative as a carrier only to find out when my son was sequenced that he passed on S1235R to my son.
I sleep better each night knowing we are caring for our son the best we can whether it's CRMS or CF. Either way, the Vest is not invasive and helps him clear mucus faster than his body could do on its own. And since good respiratory health in my household is so important for me, I appreciate that each time he gets a chest cold he is treated with antibiotics. And not just any abx as a normal child would be but 14 days of one that treats what was in his sputum culture (at age 4 still no PA). Your other children don't sound like CRMS to me. I thought CRMS was based on lack of symptoms...but perhaps the dr is saying CRMS because of the S1235R mutation. We know from this site though not to put much stock in mutations. And if the doctor is saying CRMS because of only 1 mutation I really don't agree with this since there are many cfers on this site alone with only one mutation. What were their sweat test results? I take it those were not clear either otherwise that could be used alone as a diagnostic tool for cf.
Harrietts advice is rock solid.
I have cf G551D and my husband also tested negative as a carrier only to find out when my son was sequenced that he passed on S1235R to my son.
I sleep better each night knowing we are caring for our son the best we can whether it's CRMS or CF. Either way, the Vest is not invasive and helps him clear mucus faster than his body could do on its own. And since good respiratory health in my household is so important for me, I appreciate that each time he gets a chest cold he is treated with antibiotics. And not just any abx as a normal child would be but 14 days of one that treats what was in his sputum culture (at age 4 still no PA). Your other children don't sound like CRMS to me. I thought CRMS was based on lack of symptoms...but perhaps the dr is saying CRMS because of the S1235R mutation. We know from this site though not to put much stock in mutations. And if the doctor is saying CRMS because of only 1 mutation I really don't agree with this since there are many cfers on this site alone with only one mutation. What were their sweat test results? I take it those were not clear either otherwise that could be used alone as a diagnostic tool for cf.
I have cf G551D and my husband also tested negative as a carrier only to find out when my son was sequenced that he passed on S1235R to my son.
I sleep better each night knowing we are caring for our son the best we can whether it's CRMS or CF. Either way, the Vest is not invasive and helps him clear mucus faster than his body could do on its own. And since good respiratory health in my household is so important for me, I appreciate that each time he gets a chest cold he is treated with antibiotics. And not just any abx as a normal child would be but 14 days of one that treats what was in his sputum culture (at age 4 still no PA). Your other children don't sound like CRMS to me. I thought CRMS was based on lack of symptoms...but perhaps the dr is saying CRMS because of the S1235R mutation. We know from this site though not to put much stock in mutations. And if the doctor is saying CRMS because of only 1 mutation I really don't agree with this since there are many cfers on this site alone with only one mutation. What were their sweat test results? I take it those were not clear either otherwise that could be used alone as a diagnostic tool for cf.
Harrietts advice is rock solid.
<br />I have cf G551D and my husband also tested negative as a carrier only to find out when my son was sequenced that he passed on S1235R to my son.
<br />I sleep better each night knowing we are caring for our son the best we can whether it's CRMS or CF. Either way, the Vest is not invasive and helps him clear mucus faster than his body could do on its own. And since good respiratory health in my household is so important for me, I appreciate that each time he gets a chest cold he is treated with antibiotics. And not just any abx as a normal child would be but 14 days of one that treats what was in his sputum culture (at age 4 still no PA). Your other children don't sound like CRMS to me. I thought CRMS was based on lack of symptoms...but perhaps the dr is saying CRMS because of the S1235R mutation. We know from this site though not to put much stock in mutations. And if the doctor is saying CRMS because of only 1 mutation I really don't agree with this since there are many cfers on this site alone with only one mutation. What were their sweat test results? I take it those were not clear either otherwise that could be used alone as a diagnostic tool for cf.
<br />I have cf G551D and my husband also tested negative as a carrier only to find out when my son was sequenced that he passed on S1235R to my son.
<br />I sleep better each night knowing we are caring for our son the best we can whether it's CRMS or CF. Either way, the Vest is not invasive and helps him clear mucus faster than his body could do on its own. And since good respiratory health in my household is so important for me, I appreciate that each time he gets a chest cold he is treated with antibiotics. And not just any abx as a normal child would be but 14 days of one that treats what was in his sputum culture (at age 4 still no PA). Your other children don't sound like CRMS to me. I thought CRMS was based on lack of symptoms...but perhaps the dr is saying CRMS because of the S1235R mutation. We know from this site though not to put much stock in mutations. And if the doctor is saying CRMS because of only 1 mutation I really don't agree with this since there are many cfers on this site alone with only one mutation. What were their sweat test results? I take it those were not clear either otherwise that could be used alone as a diagnostic tool for cf.
P
patrish22
Guest
Definately get the testing done. Our cf doctor asked about having our son tested after our twin girls were diagnosed. The only symptoms he had were what was thought of as mild asthma. Sure enough he has cf also. Its best to know what you are dealing with.
P
patrish22
Guest
Definately get the testing done. Our cf doctor asked about having our son tested after our twin girls were diagnosed. The only symptoms he had were what was thought of as mild asthma. Sure enough he has cf also. Its best to know what you are dealing with.
P
patrish22
Guest
<BR>Definately get the testing done. Our cf doctor asked about having our son tested after our twin girls were diagnosed. The only symptoms he had were what was thought of as mild asthma. Sure enough he has cf also. Its best to know what you are dealing with.
<br>Ok I am still new to learning all of this as it has been less that two months since our diagnosis. Are you saying that CF can occur from only one mutation? Does that mean both parents have the SAME mutation? Or that only one parent presented the gene and the child still has CF? I thought if it was only one gene then it was considered carrier? Or is this indicating a symptomatic carrier? Do symptomatic carriers have the same type of illnesses associated with cf with the same severity of symptoms over time? Please help, I am trying to learn all I can since we still do not have an identified gene at this point. I highly suspect my oldest daughter also might have some form of CF because of chronic bowel issues, sinus and pneumonia once or twice per year. She passed her sweat test with flying colors, whereas my son has had two positive and two negative sweats with no gene id as of yet. So sorry if I am asking to many questions. I have so many and few answers which is driving me into anxiety panic attacks, lol as I am sure you all are familiar with!
<br>Ok I am still new to learning all of this as it has been less that two months since our diagnosis. Are you saying that CF can occur from only one mutation? Does that mean both parents have the SAME mutation? Or that only one parent presented the gene and the child still has CF? I thought if it was only one gene then it was considered carrier? Or is this indicating a symptomatic carrier? Do symptomatic carriers have the same type of illnesses associated with cf with the same severity of symptoms over time?Please help, I am trying to learn all I can since we still do not have an identified gene at this point. I highly suspect my oldest daughter also might have some form of CF because of chronic bowel issues, sinus and pneumonia once or twice per year. She passed her sweat test with flying colors, whereas my son has had two positive and two negative sweats with no gene id as of yet. So sorry if I am asking to many questions. I have so many and few answers which is driving me into anxiety panic attacks, lol as I am sure you all are familiar with!
<p><br>Ok I am still new to learning all of this as it has been less that two months since our diagnosis. Are you saying that CF can occur from only one mutation? Does that mean both parents have the SAME mutation? Or that only one parent presented the gene and the child still has CF? I thought if it was only one gene then it was considered carrier? Or is this indicating a symptomatic carrier? Do symptomatic carriers have the same type of illnesses associated with cf with the same severity of symptoms over time?<p><p>Please help, I am trying to learn all I can since we still do not have an identified gene at this point. I highly suspect my oldest daughter also might have some form of CF because of chronic bowel issues, sinus and pneumonia once or twice per year. She passed her sweat test with flying colors, whereas my son has had two positive and two negative sweats with no gene id as of yet. <p><p>So sorry if I am asking to many questions. I have so many and few answers which is driving me into anxiety panic attacks, lol as I am sure you all are familiar with!
Hi Amanda,
Yes, you need to have a mutation on both CFTR genes in order to have CF (barring exceedingly rare genetic anomalies.) However, in a certain small percentage of those with CF, both genes cannot be identified, because even genetic sequencing does not analyze 100% of the gene and no technology is perfect. In the case of my daughter, she has one copy of the df508 mutation (the most common- only a small percentage of the cf population does not have at least one copy of this one) but we don't know her other one. We just know she HAS the disease vs. just being a carrier due to her symptoms, the sweat test (108) and her response to treatment. If your kids have not had genetic sequencing done yet- they need it. A panel test is not enough, as it only looks for something like 30ish-100ish mutations. You want Ambry Amplified for CF w/deletions and duplications, if at all possible. Now, if you've had it, and are still stuck with no clear answers- I'm so sorry- but you do need that as a starting point.
Re your carrier etc questions:
Generally speaking, yes, when someone presents with one mutation of a autosomal recessive disease, they would be considered a carrier, and usually carriers cannot be symptomatic for one of those diseases, since the 'good' gene would be the dominant one. However, things are *not* proving to be so black and white with CF. It's possible- for some reason- for some carriers to be symptomatic. I believe this is due to there being other factors that impact the CF gene and exacerbate it's effects on the body; a lot of research is being done in this area. But yes, symptomatic carriers can have similar issues... not to the level of severity as someone who has the disease though. If someone was experiencing progressive disease and had been considered a carrier only, I'd certainly hope the dr would consider the possibility that an unknown 2nd mutation was present and the person actually had cf!
Yes, you need to have a mutation on both CFTR genes in order to have CF (barring exceedingly rare genetic anomalies.) However, in a certain small percentage of those with CF, both genes cannot be identified, because even genetic sequencing does not analyze 100% of the gene and no technology is perfect. In the case of my daughter, she has one copy of the df508 mutation (the most common- only a small percentage of the cf population does not have at least one copy of this one) but we don't know her other one. We just know she HAS the disease vs. just being a carrier due to her symptoms, the sweat test (108) and her response to treatment. If your kids have not had genetic sequencing done yet- they need it. A panel test is not enough, as it only looks for something like 30ish-100ish mutations. You want Ambry Amplified for CF w/deletions and duplications, if at all possible. Now, if you've had it, and are still stuck with no clear answers- I'm so sorry- but you do need that as a starting point.
Re your carrier etc questions:
Generally speaking, yes, when someone presents with one mutation of a autosomal recessive disease, they would be considered a carrier, and usually carriers cannot be symptomatic for one of those diseases, since the 'good' gene would be the dominant one. However, things are *not* proving to be so black and white with CF. It's possible- for some reason- for some carriers to be symptomatic. I believe this is due to there being other factors that impact the CF gene and exacerbate it's effects on the body; a lot of research is being done in this area. But yes, symptomatic carriers can have similar issues... not to the level of severity as someone who has the disease though. If someone was experiencing progressive disease and had been considered a carrier only, I'd certainly hope the dr would consider the possibility that an unknown 2nd mutation was present and the person actually had cf!
Hi Amanda,
Yes, you need to have a mutation on both CFTR genes in order to have CF (barring exceedingly rare genetic anomalies.) However, in a certain small percentage of those with CF, both genes cannot be identified, because even genetic sequencing does not analyze 100% of the gene and no technology is perfect. In the case of my daughter, she has one copy of the df508 mutation (the most common- only a small percentage of the cf population does not have at least one copy of this one) but we don't know her other one. We just know she HAS the disease vs. just being a carrier due to her symptoms, the sweat test (108) and her response to treatment. If your kids have not had genetic sequencing done yet- they need it. A panel test is not enough, as it only looks for something like 30ish-100ish mutations. You want Ambry Amplified for CF w/deletions and duplications, if at all possible. Now, if you've had it, and are still stuck with no clear answers- I'm so sorry- but you do need that as a starting point.
Re your carrier etc questions:
Generally speaking, yes, when someone presents with one mutation of a autosomal recessive disease, they would be considered a carrier, and usually carriers cannot be symptomatic for one of those diseases, since the 'good' gene would be the dominant one. However, things are *not* proving to be so black and white with CF. It's possible- for some reason- for some carriers to be symptomatic. I believe this is due to there being other factors that impact the CF gene and exacerbate it's effects on the body; a lot of research is being done in this area. But yes, symptomatic carriers can have similar issues... not to the level of severity as someone who has the disease though. If someone was experiencing progressive disease and had been considered a carrier only, I'd certainly hope the dr would consider the possibility that an unknown 2nd mutation was present and the person actually had cf!
Yes, you need to have a mutation on both CFTR genes in order to have CF (barring exceedingly rare genetic anomalies.) However, in a certain small percentage of those with CF, both genes cannot be identified, because even genetic sequencing does not analyze 100% of the gene and no technology is perfect. In the case of my daughter, she has one copy of the df508 mutation (the most common- only a small percentage of the cf population does not have at least one copy of this one) but we don't know her other one. We just know she HAS the disease vs. just being a carrier due to her symptoms, the sweat test (108) and her response to treatment. If your kids have not had genetic sequencing done yet- they need it. A panel test is not enough, as it only looks for something like 30ish-100ish mutations. You want Ambry Amplified for CF w/deletions and duplications, if at all possible. Now, if you've had it, and are still stuck with no clear answers- I'm so sorry- but you do need that as a starting point.
Re your carrier etc questions:
Generally speaking, yes, when someone presents with one mutation of a autosomal recessive disease, they would be considered a carrier, and usually carriers cannot be symptomatic for one of those diseases, since the 'good' gene would be the dominant one. However, things are *not* proving to be so black and white with CF. It's possible- for some reason- for some carriers to be symptomatic. I believe this is due to there being other factors that impact the CF gene and exacerbate it's effects on the body; a lot of research is being done in this area. But yes, symptomatic carriers can have similar issues... not to the level of severity as someone who has the disease though. If someone was experiencing progressive disease and had been considered a carrier only, I'd certainly hope the dr would consider the possibility that an unknown 2nd mutation was present and the person actually had cf!
Hi Amanda,
<br />Yes, you need to have a mutation on both CFTR genes in order to have CF (barring exceedingly rare genetic anomalies.) However, in a certain small percentage of those with CF, both genes cannot be identified, because even genetic sequencing does not analyze 100% of the gene and no technology is perfect. In the case of my daughter, she has one copy of the df508 mutation (the most common- only a small percentage of the cf population does not have at least one copy of this one) but we don't know her other one. We just know she HAS the disease vs. just being a carrier due to her symptoms, the sweat test (108) and her response to treatment. If your kids have not had genetic sequencing done yet- they need it. A panel test is not enough, as it only looks for something like 30ish-100ish mutations. You want Ambry Amplified for CF w/deletions and duplications, if at all possible. Now, if you've had it, and are still stuck with no clear answers- I'm so sorry- but you do need that as a starting point.
<br />
<br />Re your carrier etc questions:
<br />Generally speaking, yes, when someone presents with one mutation of a autosomal recessive disease, they would be considered a carrier, and usually carriers cannot be symptomatic for one of those diseases, since the 'good' gene would be the dominant one. However, things are *not* proving to be so black and white with CF. It's possible- for some reason- for some carriers to be symptomatic. I believe this is due to there being other factors that impact the CF gene and exacerbate it's effects on the body; a lot of research is being done in this area. But yes, symptomatic carriers can have similar issues... not to the level of severity as someone who has the disease though. If someone was experiencing progressive disease and had been considered a carrier only, I'd certainly hope the dr would consider the possibility that an unknown 2nd mutation was present and the person actually had cf!
<br />Yes, you need to have a mutation on both CFTR genes in order to have CF (barring exceedingly rare genetic anomalies.) However, in a certain small percentage of those with CF, both genes cannot be identified, because even genetic sequencing does not analyze 100% of the gene and no technology is perfect. In the case of my daughter, she has one copy of the df508 mutation (the most common- only a small percentage of the cf population does not have at least one copy of this one) but we don't know her other one. We just know she HAS the disease vs. just being a carrier due to her symptoms, the sweat test (108) and her response to treatment. If your kids have not had genetic sequencing done yet- they need it. A panel test is not enough, as it only looks for something like 30ish-100ish mutations. You want Ambry Amplified for CF w/deletions and duplications, if at all possible. Now, if you've had it, and are still stuck with no clear answers- I'm so sorry- but you do need that as a starting point.
<br />
<br />Re your carrier etc questions:
<br />Generally speaking, yes, when someone presents with one mutation of a autosomal recessive disease, they would be considered a carrier, and usually carriers cannot be symptomatic for one of those diseases, since the 'good' gene would be the dominant one. However, things are *not* proving to be so black and white with CF. It's possible- for some reason- for some carriers to be symptomatic. I believe this is due to there being other factors that impact the CF gene and exacerbate it's effects on the body; a lot of research is being done in this area. But yes, symptomatic carriers can have similar issues... not to the level of severity as someone who has the disease though. If someone was experiencing progressive disease and had been considered a carrier only, I'd certainly hope the dr would consider the possibility that an unknown 2nd mutation was present and the person actually had cf!
Lauren - One of them had sweat tests of 59, 56, and 39. The other one was 36 and 59. They are both repeating the sweat test in November. I think I am going to call and get them to give DD2 a sweat test that day as well, and have them draw labs for her when we are in clinic.
Lauren - One of them had sweat tests of 59, 56, and 39. The other one was 36 and 59. They are both repeating the sweat test in November. I think I am going to call and get them to give DD2 a sweat test that day as well, and have them draw labs for her when we are in clinic.