Any Thoughts?

M

mom2maxandcharlie

New member
So I have been reading this site for the past 3.5 months now and everyone seems to be so helpful that I decided to join, even though we do not have a CF dx. So our story goes...our almost 4 month old had 2 elevated IRT levels at birth. We went for a sweat test @ 3 weeks old and results were 13 & 14--well WNL! However, he started showing symptoms around 2 weeks old - salty skin, oily diarrhea 2-4x/day, wheezing occasionally, & throat congestion often. His stools are always oily, sometimes nothing but oil, but he continues to gain weight. We got in to see a ped CF pulmonologist who only listened to our son's lungs and said, no he doesn't have CF. He finally agreed to order the Ambry Amplified test (Steve is great btw!). It also came out negative. I was in complete shock! Oh, I also might add my husband's first cousins (sisters) have CF, DF508 & R117H carriers. So I emailed Steve to ask this ? - would my son likely have their mutations or not necessarily. I haven't heard back from him yet (guessing he's a really busy guy<img src="i/expressions/face-icon-small-wink.gif" border="0"> Sooo...does anyone have an opionion? No one wants to do anything b/c he's gaining weight. We are waiting on a fecal elastase test result that I finally convinced my ped to order. I am praying this shows something b/c I know my son is malabsorbing (I'm not a GI doc but do have a nutrition degree<img src="i/expressions/face-icon-small-wink.gif" border="0"> Of course I don't want my son to have CF but want a dx asap if this is what we're dealing with. I just find it so odd that he had the 2 elevated IRT levels and symptoms but all tests are negative. Anyone else with a story like this?
Thanks
 
M

mom2maxandcharlie

New member
So I have been reading this site for the past 3.5 months now and everyone seems to be so helpful that I decided to join, even though we do not have a CF dx. So our story goes...our almost 4 month old had 2 elevated IRT levels at birth. We went for a sweat test @ 3 weeks old and results were 13 & 14--well WNL! However, he started showing symptoms around 2 weeks old - salty skin, oily diarrhea 2-4x/day, wheezing occasionally, & throat congestion often. His stools are always oily, sometimes nothing but oil, but he continues to gain weight. We got in to see a ped CF pulmonologist who only listened to our son's lungs and said, no he doesn't have CF. He finally agreed to order the Ambry Amplified test (Steve is great btw!). It also came out negative. I was in complete shock! Oh, I also might add my husband's first cousins (sisters) have CF, DF508 & R117H carriers. So I emailed Steve to ask this ? - would my son likely have their mutations or not necessarily. I haven't heard back from him yet (guessing he's a really busy guy<img src="i/expressions/face-icon-small-wink.gif" border="0"> Sooo...does anyone have an opionion? No one wants to do anything b/c he's gaining weight. We are waiting on a fecal elastase test result that I finally convinced my ped to order. I am praying this shows something b/c I know my son is malabsorbing (I'm not a GI doc but do have a nutrition degree<img src="i/expressions/face-icon-small-wink.gif" border="0"> Of course I don't want my son to have CF but want a dx asap if this is what we're dealing with. I just find it so odd that he had the 2 elevated IRT levels and symptoms but all tests are negative. Anyone else with a story like this?
Thanks
 
M

mom2maxandcharlie

New member
So I have been reading this site for the past 3.5 months now and everyone seems to be so helpful that I decided to join, even though we do not have a CF dx. So our story goes...our almost 4 month old had 2 elevated IRT levels at birth. We went for a sweat test @ 3 weeks old and results were 13 & 14--well WNL! However, he started showing symptoms around 2 weeks old - salty skin, oily diarrhea 2-4x/day, wheezing occasionally, & throat congestion often. His stools are always oily, sometimes nothing but oil, but he continues to gain weight. We got in to see a ped CF pulmonologist who only listened to our son's lungs and said, no he doesn't have CF. He finally agreed to order the Ambry Amplified test (Steve is great btw!). It also came out negative. I was in complete shock! Oh, I also might add my husband's first cousins (sisters) have CF, DF508 & R117H carriers. So I emailed Steve to ask this ? - would my son likely have their mutations or not necessarily. I haven't heard back from him yet (guessing he's a really busy guy<img src="i/expressions/face-icon-small-wink.gif" border="0"> Sooo...does anyone have an opionion? No one wants to do anything b/c he's gaining weight. We are waiting on a fecal elastase test result that I finally convinced my ped to order. I am praying this shows something b/c I know my son is malabsorbing (I'm not a GI doc but do have a nutrition degree<img src="i/expressions/face-icon-small-wink.gif" border="0"> Of course I don't want my son to have CF but want a dx asap if this is what we're dealing with. I just find it so odd that he had the 2 elevated IRT levels and symptoms but all tests are negative. Anyone else with a story like this?
<br />Thanks
 
G

Georgiatwins

New member
Hey! I have identical twins that both had elevated IRT levels on their newborn screen. They both had sweat tests done that were inconclusive, so the only way we knew for certain it was CF was through the DNA test that they did using the blood sample taken for the newborn screen. You might ask if they can just do a simple DNA test. That would be the only for sure sign. My girls didn't show any other signs other than malabsorbing and not gaining weight and they had a few oily stools, but not every time. They are two months old today and STILL not showing any other signs other than the malabsorbtion. Their lungs are still clear which is a blessing! We're trying to keep it that way for as long as we can <img src="i/expressions/face-icon-small-smile.gif" border="0">

Good Luck!
 
G

Georgiatwins

New member
Hey! I have identical twins that both had elevated IRT levels on their newborn screen. They both had sweat tests done that were inconclusive, so the only way we knew for certain it was CF was through the DNA test that they did using the blood sample taken for the newborn screen. You might ask if they can just do a simple DNA test. That would be the only for sure sign. My girls didn't show any other signs other than malabsorbing and not gaining weight and they had a few oily stools, but not every time. They are two months old today and STILL not showing any other signs other than the malabsorbtion. Their lungs are still clear which is a blessing! We're trying to keep it that way for as long as we can <img src="i/expressions/face-icon-small-smile.gif" border="0">

Good Luck!
 
G

Georgiatwins

New member
Hey! I have identical twins that both had elevated IRT levels on their newborn screen. They both had sweat tests done that were inconclusive, so the only way we knew for certain it was CF was through the DNA test that they did using the blood sample taken for the newborn screen. You might ask if they can just do a simple DNA test. That would be the only for sure sign. My girls didn't show any other signs other than malabsorbing and not gaining weight and they had a few oily stools, but not every time. They are two months old today and STILL not showing any other signs other than the malabsorbtion. Their lungs are still clear which is a blessing! We're trying to keep it that way for as long as we can <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />Good Luck!
 
M

Mommafirst

Guest
When you say that the ambry was negative, do you mean they found NO mutations or that they found 1 and are calling him a carrier?
 
M

Mommafirst

Guest
When you say that the ambry was negative, do you mean they found NO mutations or that they found 1 and are calling him a carrier?
 
M

Mommafirst

Guest
When you say that the ambry was negative, do you mean they found NO mutations or that they found 1 and are calling him a carrier?
 
M

mom2maxandcharlie

New member
Heather, I should have said they found no mutations. The test also stated they found no dysfunction in the CFTR gene. With that said (and you mom experts probably already know this), the CF mutation database reports that the CFTR gene is so large that it is impossible to analyze 100%. I have been in contact with another mother whose daughter was this case but finally showed positive on the sweat test. I just tell myself that this is a "one in a million" with this particular case. For us, I know all arrows as far as testing point to no CF but the symptoms are there and I can't seem to shake the idea. Maybe we can push forward if the fecal elastase test shows to be abnormal.

Thanks for repsonding!
 
M

mom2maxandcharlie

New member
Heather, I should have said they found no mutations. The test also stated they found no dysfunction in the CFTR gene. With that said (and you mom experts probably already know this), the CF mutation database reports that the CFTR gene is so large that it is impossible to analyze 100%. I have been in contact with another mother whose daughter was this case but finally showed positive on the sweat test. I just tell myself that this is a "one in a million" with this particular case. For us, I know all arrows as far as testing point to no CF but the symptoms are there and I can't seem to shake the idea. Maybe we can push forward if the fecal elastase test shows to be abnormal.

Thanks for repsonding!
 
M

mom2maxandcharlie

New member
Heather, I should have said they found no mutations. The test also stated they found no dysfunction in the CFTR gene. With that said (and you mom experts probably already know this), the CF mutation database reports that the CFTR gene is so large that it is impossible to analyze 100%. I have been in contact with another mother whose daughter was this case but finally showed positive on the sweat test. I just tell myself that this is a "one in a million" with this particular case. For us, I know all arrows as far as testing point to no CF but the symptoms are there and I can't seem to shake the idea. Maybe we can push forward if the fecal elastase test shows to be abnormal.
<br />
<br />Thanks for repsonding!
 
J

jmom

New member
Hello there! I'm sorry to hear you still have unanswered questions. I have some thoughts on the fecal elastase test that I think you should know about. We have been working on a diagnosis for three years now for my daughter. She has been through so much that I won't get into right now, but one thing that might be helpful to you: She has signs of fat malabsorption, did a fecal fat test, it came out positive, then did another one and it came out negative. I since learned that if you do not eat enough fat, it will not show up on the test. Then, concerning the fecal elastase tetst: BE CAREFUL! My daughter's GI suggested this test as another confirmation of fat malab. and pancreatic insufficiency. Her test came out normal, but as I researched the test itself, I found a MULTITUDE of scientific, medical journals that state that this test is ONLY RELIABLE in severe cases. For mild to moderate cases, it is only 60-70% reliable. My daughter's sweat test came out 32/33. I don't quite trust this test either, and even our children's hospital (CF accredited) states on their medical records that as of March 2010, they now recommend repeating negative sweat tests if symptoms persist. In other words, they don't even quite trust this test! I hope all of this is helpful to keep in the back of your brain as you work on answers. Best wishes.
 
J

jmom

New member
Hello there! I'm sorry to hear you still have unanswered questions. I have some thoughts on the fecal elastase test that I think you should know about. We have been working on a diagnosis for three years now for my daughter. She has been through so much that I won't get into right now, but one thing that might be helpful to you: She has signs of fat malabsorption, did a fecal fat test, it came out positive, then did another one and it came out negative. I since learned that if you do not eat enough fat, it will not show up on the test. Then, concerning the fecal elastase tetst: BE CAREFUL! My daughter's GI suggested this test as another confirmation of fat malab. and pancreatic insufficiency. Her test came out normal, but as I researched the test itself, I found a MULTITUDE of scientific, medical journals that state that this test is ONLY RELIABLE in severe cases. For mild to moderate cases, it is only 60-70% reliable. My daughter's sweat test came out 32/33. I don't quite trust this test either, and even our children's hospital (CF accredited) states on their medical records that as of March 2010, they now recommend repeating negative sweat tests if symptoms persist. In other words, they don't even quite trust this test! I hope all of this is helpful to keep in the back of your brain as you work on answers. Best wishes.
 
J

jmom

New member
Hello there! I'm sorry to hear you still have unanswered questions. I have some thoughts on the fecal elastase test that I think you should know about. We have been working on a diagnosis for three years now for my daughter. She has been through so much that I won't get into right now, but one thing that might be helpful to you: She has signs of fat malabsorption, did a fecal fat test, it came out positive, then did another one and it came out negative. I since learned that if you do not eat enough fat, it will not show up on the test. Then, concerning the fecal elastase tetst: BE CAREFUL! My daughter's GI suggested this test as another confirmation of fat malab. and pancreatic insufficiency. Her test came out normal, but as I researched the test itself, I found a MULTITUDE of scientific, medical journals that state that this test is ONLY RELIABLE in severe cases. For mild to moderate cases, it is only 60-70% reliable. My daughter's sweat test came out 32/33. I don't quite trust this test either, and even our children's hospital (CF accredited) states on their medical records that as of March 2010, they now recommend repeating negative sweat tests if symptoms persist. In other words, they don't even quite trust this test! I hope all of this is helpful to keep in the back of your brain as you work on answers. Best wishes.
 
M

mom2maxandcharlie

New member
Thanks jmom for the stool test information. I actually had read the same thing re: the fecal elastase test sensitivity this past week. Not so encouraging. We have not had a fecal fat done and that will be next on my list if the elastase comes back normal. May I ask what children's hospital you're referring to? I would like to be able to use them as my example when I ask for a repeat sweat test. Thanks.
 
M

mom2maxandcharlie

New member
Thanks jmom for the stool test information. I actually had read the same thing re: the fecal elastase test sensitivity this past week. Not so encouraging. We have not had a fecal fat done and that will be next on my list if the elastase comes back normal. May I ask what children's hospital you're referring to? I would like to be able to use them as my example when I ask for a repeat sweat test. Thanks.
 
M

mom2maxandcharlie

New member
Thanks jmom for the stool test information. I actually had read the same thing re: the fecal elastase test sensitivity this past week. Not so encouraging. We have not had a fecal fat done and that will be next on my list if the elastase comes back normal. May I ask what children's hospital you're referring to? I would like to be able to use them as my example when I ask for a repeat sweat test. Thanks.
 
M

mom2maxandcharlie

New member
I forgot to add....can someone tell me exactly how the CF genes work? Do the same families carry the same mutation? For example, do 2 siblings have the same mutations? I had posted earlier that my husband's 2 cousins carry the DF508 and R117H mutations. Would my son likely have 1 of these mutations if he did have CF? I'm a little confused on this.
 
M

mom2maxandcharlie

New member
I forgot to add....can someone tell me exactly how the CF genes work? Do the same families carry the same mutation? For example, do 2 siblings have the same mutations? I had posted earlier that my husband's 2 cousins carry the DF508 and R117H mutations. Would my son likely have 1 of these mutations if he did have CF? I'm a little confused on this.
 
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