A WWYD

[BarbaraW]

<P>DD (7) and DS(5) are both dx with CRMS, although their pulm. is leaning towards changing it to a cf dx. Both had high borderline sweat tests, and are having them redone in November. They both had the Ambry done, which came back with 1mutation, the S1235R. Both have a ton of symptons - both are PI, both get puemonia a few times a year, DS 's lung collapsed last year, DD cultured staph when she was last bronched, both are labled FTT, DD has had sinus polyps remoevd, ...... you get the picture.</P>
<P> </P>
<P>The pulm brought up testing DD2, who is also 5 - DS's twin. I am torn. Because we only know one mutation, and don't even know if the other two have cf, would testing DD2 give us any information? If it comes back showing the S1235R mutation and nothing else, then isn't she in the same limbo that the other two are?</P>
<P> </P>
<P>DD has no symptons. She is small, but was a former 29 weeker, who was only 2 pounds, so that explains a lot of that. She does tend to get more colds than ODS (who was adopted, so we don't need to worry about him), but again, she was a 29 weeker. With most of these colds, she ends up with a very croupy cough, but nothing else. She eats a lot, and gains weight slowly, but she does gain. She tends to the more constipated side.</P>
<P> </P>
<P>Any advice?</P>

 

[BarbaraW]

<P>DD (7) and DS(5) are both dx with CRMS, although their pulm. is leaning towards changing it to a cf dx. Both had high borderline sweat tests, and are having them redone in November. They both had the Ambry done, which came back with 1mutation, the S1235R. Both have a ton of symptons - both are PI, both get puemonia a few times a year, DS 's lung collapsed last year, DD cultured staph when she was last bronched, both are labled FTT, DD has had sinus polyps remoevd, ...... you get the picture.</P>
<P></P>
<P>The pulm brought up testing DD2, who is also 5 - DS's twin. I am torn. Because we only know one mutation, and don't even know if the other two have cf, would testing DD2 give us any information? If it comes back showing the S1235R mutation and nothing else, then isn't she in the same limbo that the other two are?</P>
<P></P>
<P>DD has no symptons. She is small, but was a former 29 weeker, who was only 2 pounds, so that explains a lot of that. She does tend to get more colds than ODS (who was adopted, so we don't need to worry about him), but again, she was a 29 weeker. With most of these colds, she ends up with a very croupy cough, but nothing else. She eats a lot, and gains weight slowly, but she does gain. She tends to the more constipated side.</P>
<P></P>
<P>Any advice?</P>

 

[BarbaraW]

<P><BR>DD (7) and DS(5) are both dx with CRMS, although their pulm. is leaning towards changing it to a cf dx. Both had high borderline sweat tests, and are having them redone in November. They both had the Ambry done, which came back with 1mutation, the S1235R. Both have a ton of symptons - both are PI, both get puemonia a few times a year, DS 's lung collapsed last year, DD cultured staph when she was last bronched, both are labled FTT, DD has had sinus polyps remoevd, ...... you get the picture.</P>
<P></P>
<P>The pulm brought up testing DD2, who is also 5 - DS's twin. I am torn. Because we only know one mutation, and don't even know if the other two have cf, would testing DD2 give us any information? If it comes back showing the S1235R mutation and nothing else, then isn't she in the same limbo that the other two are?</P>
<P></P>
<P>DD has no symptons. She is small, but was a former 29 weeker, who was only 2 pounds, so that explains a lot of that. She does tend to get more colds than ODS (who was adopted, so we don't need to worry about him), but again, she was a 29 weeker. With most of these colds, she ends up with a very croupy cough, but nothing else. She eats a lot, and gains weight slowly, but she does gain. She tends to the more constipated side.</P>
<P></P>
<P>Any advice?</P>

 

[Printer]

Yes. There are several levels of gene testing. There are almost 1900 mutations. Only one test scans for all mutations. If the Ambry that was done is NOT a FULL CF GENE SEQUENCING, I would think that is now required.

You don't say that your children are being seen at an APPROVED CF CENTER, that too should be required.

Good luck,
Bill

 

[Printer]

Yes. There are several levels of gene testing. There are almost 1900 mutations. Only one test scans for all mutations. If the Ambry that was done is NOT a FULL CF GENE SEQUENCING, I would think that is now required.

You don't say that your children are being seen at an APPROVED CF CENTER, that too should be required.

Good luck,
Bill

 

[Printer]

Yes. There are several levels of gene testing. There are almost 1900 mutations. Only one test scans for all mutations. If the Ambry that was done is NOT a FULL CF GENE SEQUENCING, I would think that is now required.
<br />
<br />You don't say that your children are being seen at an APPROVED CF CENTER, that too should be required.
<br />
<br />Good luck,
<br />Bill

 

[edan]

Hi. So sorry you are having to deal with so much! Regarding your 3rd daughter, I think you should get her tested. At age 3.5, we had my daughter tested just to "rule out" CF. My husband and I both discovered we were carriers just before this. She is fully pancreatic sufficient, in the 75th percentile for height and 50th for weight.

Her sweat test was 58 and she carried both mutations. She has never had pneumonia or taken too long to get over a cold. Her fecal elastase is 500+.

We treat her with vest/nebs 1-2x/day when not sick and 3-4 when sick.
Hope thsi helps!
Edan

 

[edan]

Hi. So sorry you are having to deal with so much! Regarding your 3rd daughter, I think you should get her tested. At age 3.5, we had my daughter tested just to "rule out" CF. My husband and I both discovered we were carriers just before this. She is fully pancreatic sufficient, in the 75th percentile for height and 50th for weight.

Her sweat test was 58 and she carried both mutations. She has never had pneumonia or taken too long to get over a cold. Her fecal elastase is 500+.

We treat her with vest/nebs 1-2x/day when not sick and 3-4 when sick.
Hope thsi helps!
Edan

 

[edan]

Hi. So sorry you are having to deal with so much! Regarding your 3rd daughter, I think you should get her tested. At age 3.5, we had my daughter tested just to "rule out" CF. My husband and I both discovered we were carriers just before this. She is fully pancreatic sufficient, in the 75th percentile for height and 50th for weight.
<br />
<br />Her sweat test was 58 and she carried both mutations. She has never had pneumonia or taken too long to get over a cold. Her fecal elastase is 500+.
<br />
<br />We treat her with vest/nebs 1-2x/day when not sick and 3-4 when sick.
<br />Hope thsi helps!
<br />Edan

 

[BarbaraW]

<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i> Yes. There are several levels of gene testing. There are almost 1900 mutations. Only one test scans for all mutations. If the Ambry that was done is NOT a FULL CF GENE SEQUENCING, I would think that is now required. You don't say that your children are being seen at an APPROVED CF CENTER, that too should be required. Good luck, Bill</end quote></div> </P>
<P> </P>
<P>They are treated at an accrediteid CF center, and they both had the full Ambry test done.</P>

 

[BarbaraW]

<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i> Yes. There are several levels of gene testing. There are almost 1900 mutations. Only one test scans for all mutations. If the Ambry that was done is NOT a FULL CF GENE SEQUENCING, I would think that is now required. You don't say that your children are being seen at an APPROVED CF CENTER, that too should be required. Good luck, Bill</end quote> </P>
<P></P>
<P>They are treated at an accrediteid CF center, and they both had the full Ambry test done.</P>

 

[BarbaraW]

<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Printer</b></i> Yes. There are several levels of gene testing. There are almost 1900 mutations. Only one test scans for all mutations. If the Ambry that was done is NOT a FULL CF GENE SEQUENCING, I would think that is now required. You don't say that your children are being seen at an APPROVED CF CENTER, that too should be required. Good luck, Bill</end quote> </P>
<P></P>
<P>They are treated at an accrediteid CF center, and they both had the full Ambry test done.</P>

 

[just1more]

Barbara,

There is little to no purpose to testing your daughter at this point. Either she has one mutation and is a carrier, or two and has CF. Given that they didn't find a second mutation in your boys they are not going to find it in her either.

I would suggest just watching, and if she starts to be symptomatic, then treat her just like her brothers. No need to spend $$ to run a blood test when you know the results.

If at some point they were to identify a second mutation in the other kids, then you can obviously have her checked as well at that point.

 

[just1more]

Barbara,

There is little to no purpose to testing your daughter at this point. Either she has one mutation and is a carrier, or two and has CF. Given that they didn't find a second mutation in your boys they are not going to find it in her either.

I would suggest just watching, and if she starts to be symptomatic, then treat her just like her brothers. No need to spend $$ to run a blood test when you know the results.

If at some point they were to identify a second mutation in the other kids, then you can obviously have her checked as well at that point.

 

[just1more]

Barbara,
<br />
<br />There is little to no purpose to testing your daughter at this point. Either she has one mutation and is a carrier, or two and has CF. Given that they didn't find a second mutation in your boys they are not going to find it in her either.
<br />
<br />I would suggest just watching, and if she starts to be symptomatic, then treat her just like her brothers. No need to spend $$ to run a blood test when you know the results.
<br />
<br />If at some point they were to identify a second mutation in the other kids, then you can obviously have her checked as well at that point.

 

[edan]

Just1more,

I disagree. I think she should have her tested, at least with a sweat test. If it is borderline (40-60) then chances are there is something going on. My daughter had no symptoms, but the xray showed very mild peribronchial wall thickening. The school of thought now is that damage is being done before symptoms start, which would be in line with my daughter's xray findings. There are studies going on now testing that theory in infants. Anyway, it isn't for sure there aren't symptoms. She is small and always gets croupy coughs with colds. Chronic constipation can also be a symptom. My daughter has this on and off as well.

 

[edan]

Just1more,

I disagree. I think she should have her tested, at least with a sweat test. If it is borderline (40-60) then chances are there is something going on. My daughter had no symptoms, but the xray showed very mild peribronchial wall thickening. The school of thought now is that damage is being done before symptoms start, which would be in line with my daughter's xray findings. There are studies going on now testing that theory in infants. Anyway, it isn't for sure there aren't symptoms. She is small and always gets croupy coughs with colds. Chronic constipation can also be a symptom. My daughter has this on and off as well.

 

[edan]

Just1more,
<br />
<br />I disagree. I think she should have her tested, at least with a sweat test. If it is borderline (40-60) then chances are there is something going on. My daughter had no symptoms, but the xray showed very mild peribronchial wall thickening. The school of thought now is that damage is being done before symptoms start, which would be in line with my daughter's xray findings. There are studies going on now testing that theory in infants. Anyway, it isn't for sure there aren't symptoms. She is small and always gets croupy coughs with colds. Chronic constipation can also be a symptom. My daughter has this on and off as well.

 

[Printer]

Of course she could have 2 mutations even tho the others have only one. Barbara, what is the CF Doctor recommending?

Bill

 

[Printer]

Of course she could have 2 mutations even tho the others have only one. Barbara, what is the CF Doctor recommending?

Bill