A WWYD

[Mommafirst]

I think I'd want a sweat test done, but I don't think the expensive genetic test is going to tell you much. If your others are dealing with an unknown mutation and they are 100% siblings with the child in question, the cost is too high for the liklihood of giving information )(and I'm ALWAYS one to suggest doing ALL the testing). There just seems to be too many opinions that you will do all this and not rule anything out. Unfortunately, there is no way to rule CF out. ...unless you have your dd JUST tested for the one known mutation. If she doesn't have it, you can be pretty confident that she doesn't have CF.

 

[Mommafirst]

I think I'd want a sweat test done, but I don't think the expensive genetic test is going to tell you much. If your others are dealing with an unknown mutation and they are 100% siblings with the child in question, the cost is too high for the liklihood of giving information )(and I'm ALWAYS one to suggest doing ALL the testing). There just seems to be too many opinions that you will do all this and not rule anything out. Unfortunately, there is no way to rule CF out. ...unless you have your dd JUST tested for the one known mutation. If she doesn't have it, you can be pretty confident that she doesn't have CF.

 

[BarbaraW]

<P>Thank you guys for your thoughts. See, if they could rule it out, I would do it in a heartbeat. I just don't want the limbo for her that the other two are in.</P>
<P> </P>
<P>I never even questioned it with her, until she came to an appointment with us and they noted her small size. She is actually smaller than her twin. Neither one is on the growth charts. I just figured since she did not have of the symptoms of the other two that she was fine.</P>
<P> </P>
<P>We had a general screening done before I got pg. We did IVF and they checked for the most commen mutations before we started. Neither one of us had any, which obviously is wrong, since DD and DS got the S1235R from one of us. My husband also has a lot of symptoms - chronic respitory infections, a lot of sinus problems, infertility. His doctors thought he had cf when he was younger, but his sweat tests were always negative. I guess it would make sense to have him do the full Ambry as well, although when I brought it up with our pulm he didn't think it would give us much info.</P>
<P> </P>
<P>Still not sure what we will do. I'll talk to the pulm again on Monday.</P>
<P> </P>
<P>Thanks.</P>

 

[BarbaraW]

<P>Thank you guys for your thoughts. See, if they could rule it out, I would do it in a heartbeat. I just don't want the limbo for her that the other two are in.</P>
<P></P>
<P>I never even questioned it with her, until she came to an appointment with us and they noted her small size. She is actually smaller than her twin. Neither one is on the growth charts. I just figured since she did not have of the symptoms of the other two that she was fine.</P>
<P></P>
<P>We had a general screening done before I got pg. We did IVF and they checked for the most commen mutations before we started. Neither one of us had any, which obviously is wrong, since DD and DS got the S1235R from one of us. My husband also has a lot of symptoms - chronic respitory infections, a lot of sinus problems, infertility. His doctors thought he had cf when he was younger, but his sweat tests were always negative. I guess it would make sense to have him do the full Ambry as well, although when I brought it up with our pulm he didn't think it would give us much info.</P>
<P></P>
<P>Still not sure what we will do. I'll talk to the pulm again on Monday.</P>
<P></P>
<P>Thanks.</P>

 

[BarbaraW]

<P><BR>Thank you guys for your thoughts. See, if they could rule it out, I would do it in a heartbeat. I just don't want the limbo for her that the other two are in.</P>
<P></P>
<P>I never even questioned it with her, until she came to an appointment with us and they noted her small size. She is actually smaller than her twin. Neither one is on the growth charts. I just figured since she did not have of the symptoms of the other two that she was fine.</P>
<P></P>
<P>We had a general screening done before I got pg. We did IVF and they checked for the most commen mutations before we started. Neither one of us had any, which obviously is wrong, since DD and DS got the S1235R from one of us. My husband also has a lot of symptoms - chronic respitory infections, a lot of sinus problems, infertility. His doctors thought he had cf when he was younger, but his sweat tests were always negative. I guess it would make sense to have him do the full Ambry as well, although when I brought it up with our pulm he didn't think it would give us much info.</P>
<P></P>
<P>Still not sure what we will do. I'll talk to the pulm again on Monday.</P>
<P></P>
<P>Thanks.</P>

 

[Printer]

I know a little bit about late onset CF. If I were hubby (and I was in his position) I would have the full Ambry done ASAP. Bill

 

[Printer]

I know a little bit about late onset CF. If I were hubby (and I was in his position) I would have the full Ambry done ASAP. Bill

 

[Printer]

I know a little bit about late onset CF. If I were hubby (and I was in his position) I would have the full Ambry done ASAP. <BR><BR>Bill

 

[edan]

Hi BarbaraW,

Given everything you have said, I would at least do the sweat test with your daughter. There are adults with my daughter's mutation that didn't know about their CF or show obvious signs until they were in their 20s, 30s, etc, but there was already damage. What if they had known about their disease earlier? Would it have increased not only their life expectancies, but also quality of life overall?

And as far as your other two not being treated for full CF, I would question that and get a second opinion. My daughter is not FTT, does not have polyps, etc, etc (as I mentioned in an earlier post).

What if she does have a super mild version of CF? It is better to take the chance to know. She will then have access to the meds/therapies she needs when she needs them. What if you can help increase her life expectancy, even from age 50 to 70 years? Limbo is a bummer, but as I see it, she is in limbo anyway without testing.

I am sorry if I sound like I am nagging here, but I just hate to see kids not get the full treatment they may need.

Cheers,
Edan.

 

[edan]

Hi BarbaraW,

Given everything you have said, I would at least do the sweat test with your daughter. There are adults with my daughter's mutation that didn't know about their CF or show obvious signs until they were in their 20s, 30s, etc, but there was already damage. What if they had known about their disease earlier? Would it have increased not only their life expectancies, but also quality of life overall?

And as far as your other two not being treated for full CF, I would question that and get a second opinion. My daughter is not FTT, does not have polyps, etc, etc (as I mentioned in an earlier post).

What if she does have a super mild version of CF? It is better to take the chance to know. She will then have access to the meds/therapies she needs when she needs them. What if you can help increase her life expectancy, even from age 50 to 70 years? Limbo is a bummer, but as I see it, she is in limbo anyway without testing.

I am sorry if I sound like I am nagging here, but I just hate to see kids not get the full treatment they may need.

Cheers,
Edan.

 

[edan]

Hi BarbaraW,
<br />
<br />Given everything you have said, I would at least do the sweat test with your daughter. There are adults with my daughter's mutation that didn't know about their CF or show obvious signs until they were in their 20s, 30s, etc, but there was already damage. What if they had known about their disease earlier? Would it have increased not only their life expectancies, but also quality of life overall?
<br />
<br />And as far as your other two not being treated for full CF, I would question that and get a second opinion. My daughter is not FTT, does not have polyps, etc, etc (as I mentioned in an earlier post).
<br />
<br />What if she does have a super mild version of CF? It is better to take the chance to know. She will then have access to the meds/therapies she needs when she needs them. What if you can help increase her life expectancy, even from age 50 to 70 years? Limbo is a bummer, but as I see it, she is in limbo anyway without testing.
<br />
<br />I am sorry if I sound like I am nagging here, but I just hate to see kids not get the full treatment they may need.
<br />
<br />Cheers,
<br />Edan.

 

[hmw]

I don't believe in not testing for something in order to avoid dealing with results. As posted, she is in limbo anyway and there is a part of you that is going to keep wondering if it's there- and the medical professionals ought to know as well.

I also don't think she needs hugely expensive testing. Have Ambry test her for just the mutation her brothers have- they can do this, as can at least one of the other labs that does sequencing. While there is an extremely small chance there could be another scenario, odds are overwhelmingly in the favor of S1235R or nothing showing up. This is not extremely expensive- a couple hundred dollars vs. the thousands that the full sequencing costs.

 

[hmw]

I don't believe in not testing for something in order to avoid dealing with results. As posted, she is in limbo anyway and there is a part of you that is going to keep wondering if it's there- and the medical professionals ought to know as well.

I also don't think she needs hugely expensive testing. Have Ambry test her for just the mutation her brothers have- they can do this, as can at least one of the other labs that does sequencing. While there is an extremely small chance there could be another scenario, odds are overwhelmingly in the favor of S1235R or nothing showing up. This is not extremely expensive- a couple hundred dollars vs. the thousands that the full sequencing costs.

 

[hmw]

I don't believe in not testing for something in order to avoid dealing with results. As posted, she is in limbo anyway and there is a part of you that is going to keep wondering if it's there- and the medical professionals ought to know as well.
<br />
<br />I also don't think she needs hugely expensive testing. Have Ambry test her for just the mutation her brothers have- they can do this, as can at least one of the other labs that does sequencing. While there is an extremely small chance there could be another scenario, odds are overwhelmingly in the favor of S1235R or nothing showing up. This is not extremely expensive- a couple hundred dollars vs. the thousands that the full sequencing costs.

 

[BarbaraW]

<P>Ok, so one more question.</P>
<P> </P>
<P>If she comes back showing the S1235R mutation, then what? Do we treat her when she may not have cf? Do we assume that she is just a carrier?</P>

 

[BarbaraW]

<P>Ok, so one more question.</P>
<P></P>
<P>If she comes back showing the S1235R mutation, then what? Do we treat her when she may not have cf? Do we assume that she is just a carrier?</P>

 

[BarbaraW]

<P><BR>Ok, so one more question.</P>
<P></P>
<P>If she comes back showing the S1235R mutation, then what? Do we treat her when she may not have cf? Do we assume that she is just a carrier?</P>

 

[hmw]

If it were me: You do the genetic test first. For her to have CF, she HAS to have that known mutation. However- If that comes back negative, you've ruled out CF and no other tests are needed, case closed AHHHHHH big sigh of relief. It's only a 50% chance that she did from whichever one of you carries it- way good enough odds to find out imo. <br>
<br>Should it come back positive- before treating her, you get her worked up at the cf center to see what her baseline is to figure out what seems reasonable. There are some tests that can be done that are not invasive at all that can give you some very good information- no doubt tests your other kids already get- but a seemingly 'healthy' kid can surprise you sometimes...
<br>
<br>Start with the sweat test. It's non-invasive, inexpensive, quick, and usually not perceived as painful. Make sure they do both arms for best odds of success. However, keep in mind sweat tests are less than accurate at times, so... it's really hard to know how to proceed there. <br>
<br>Since her biggest symptom seems to be slowed growth, a 72-hour stool collection to test for fecal fat and elastase. Disgusting, yes- invasive, no. And will tell you with a good measure of certainty how her pancreas is doing. Along the lines of growth issues: labs for vitamin and mineral levels.
<br>
<br>Sputum culture. If she comes back culturing anything, even stuff not exclusive to CF (staph, h.flu, etc) I'd want a chest xray done to look for early changes in the lungs often seen with CF.
<br>
<br>If it was my child, I'd want to know all this before deciding how to proceed. Wait a minute, this WAS my child... hehehe. My son, now 14, has been deemed a symptomatic carrier- but we had to go through a lot of testing to be sure of that. Ultimately a non-cf result on a Nasal Potential Difference test tipped the scales over to the carrier side.

 

[hmw]

If it were me: You do the genetic test first. For her to have CF, she HAS to have that known mutation. However- If that comes back negative, you've ruled out CF and no other tests are needed, case closed AHHHHHH big sigh of relief. It's only a 50% chance that she did from whichever one of you carries it- way good enough odds to find out imo. <br>
<br>Should it come back positive- before treating her, you get her worked up at the cf center to see what her baseline is to figure out what seems reasonable. There are some tests that can be done that are not invasive at all that can give you some very good information- no doubt tests your other kids already get- but a seemingly 'healthy' kid can surprise you sometimes...
<br>
<br>Start with the sweat test. It's non-invasive, inexpensive, quick, and usually not perceived as painful. Make sure they do both arms for best odds of success. However, keep in mind sweat tests are less than accurate at times, so... it's really hard to know how to proceed there. <br>
<br>Since her biggest symptom seems to be slowed growth, a 72-hour stool collection to test for fecal fat and elastase. Disgusting, yes- invasive, no. And will tell you with a good measure of certainty how her pancreas is doing. Along the lines of growth issues: labs for vitamin and mineral levels.
<br>
<br>Sputum culture. If she comes back culturing anything, even stuff not exclusive to CF (staph, h.flu, etc) I'd want a chest xray done to look for early changes in the lungs often seen with CF.
<br>
<br>If it was my child, I'd want to know all this before deciding how to proceed. Wait a minute, this WAS my child... hehehe. My son, now 14, has been deemed a symptomatic carrier- but we had to go through a lot of testing to be sure of that. Ultimately a non-cf result on a Nasal Potential Difference test tipped the scales over to the carrier side.

 

[hmw]

If it were me: You do the genetic test first. For her to have CF, she HAS to have that known mutation. However- If that comes back negative, you've ruled out CF and no other tests are needed, case closed AHHHHHH big sigh of relief. It's only a 50% chance that she did from whichever one of you carries it- way good enough odds to find out imo. <br>
<br>Should it come back positive- before treating her, you get her worked up at the cf center to see what her baseline is to figure out what seems reasonable. There are some tests that can be done that are not invasive at all that can give you some very good information- no doubt tests your other kids already get- but a seemingly 'healthy' kid can surprise you sometimes...
<br>
<br>Start with the sweat test. It's non-invasive, inexpensive, quick, and usually not perceived as painful. Make sure they do both arms for best odds of success. However, keep in mind sweat tests are less than accurate at times, so... it's really hard to know how to proceed there. <br>
<br>Since her biggest symptom seems to be slowed growth, a 72-hour stool collection to test for fecal fat and elastase. Disgusting, yes- invasive, no. And will tell you with a good measure of certainty how her pancreas is doing. Along the lines of growth issues: labs for vitamin and mineral levels.
<br>
<br>Sputum culture. If she comes back culturing anything, even stuff not exclusive to CF (staph, h.flu, etc) I'd want a chest xray done to look for early changes in the lungs often seen with CF.
<br>
<br>If it was my child, I'd want to know all this before deciding how to proceed. Wait a minute, this WAS my child... hehehe. My son, now 14, has been deemed a symptomatic carrier- but we had to go through a lot of testing to be sure of that. Ultimately a non-cf result on a Nasal Potential Difference test tipped the scales over to the carrier side.