New Born Screening Positive

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juliettesmama

New member
We just found out that our six week old baby girl tested positive with the Delta F508 gene and L967f. We have our sweat test scheduled for Wednesday. I have looked for information on L967f but could not find any. Counselor I spoke with told me that it was a rare gene that was usually benign but could cause mild symptoms such as asthma or sinus problems.
I want to find out more information becasue I am worried she was just telling me best case scenario and trying not to freak me out before we have more testing done.
Any information would help. Thanks!
 
J

juliettesmama

New member
We just found out that our six week old baby girl tested positive with the Delta F508 gene and L967f. We have our sweat test scheduled for Wednesday. I have looked for information on L967f but could not find any. Counselor I spoke with told me that it was a rare gene that was usually benign but could cause mild symptoms such as asthma or sinus problems.
I want to find out more information becasue I am worried she was just telling me best case scenario and trying not to freak me out before we have more testing done.
Any information would help. Thanks!
 
R

Ratatosk

Administrator
Staff member
Not sure about the L967F gene, but with the Delta F508 gene, there can be pancreatic insufficiency (digestive issues), sinus problems... It's hard to make a determiniation as to how genes may affect symptoms because even with family members having the same genetic mutations there can be varied symptoms.

In any event, it's important to contact an accreditted CF center to make sure that you're daughter gets proactive treatment/care to insure that her lungs stay happy and healthy.
 
R

Ratatosk

Administrator
Staff member
Not sure about the L967F gene, but with the Delta F508 gene, there can be pancreatic insufficiency (digestive issues), sinus problems... It's hard to make a determiniation as to how genes may affect symptoms because even with family members having the same genetic mutations there can be varied symptoms.

In any event, it's important to contact an accreditted CF center to make sure that you're daughter gets proactive treatment/care to insure that her lungs stay happy and healthy.
 
B

BLKC032209

New member
Good luck with the sweat test but concentrate on, as the last poster suggested, an accreditted CF center to handle your daughters care. Our daughter was diagnosed at birth with the same gene issues and now just turned 3. You will need to quickly learn her meds to provide her with the brightest hope of a lengthy life.
 
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BLKC032209

New member
Good luck with the sweat test but concentrate on, as the last poster suggested, an accreditted CF center to handle your daughters care. Our daughter was diagnosed at birth with the same gene issues and now just turned 3. You will need to quickly learn her meds to provide her with the brightest hope of a lengthy life.
 
P

Printer

Active member
I would be really curious as to the reason for a sweat test given she has been dx and has two known mutations. I have to agree with Ratatosh, you need to get her to an APPROVED CF CLINIC and have her seen by a CF SPECIALIST. Dont put this off. Nothing good can happen if you wait.

I never heard of a "benign" CF mutation.

Good luck,
Bill
 
P

Printer

Active member
I would be really curious as to the reason for a sweat test given she has been dx and has two known mutations. I have to agree with Ratatosh, you need to get her to an APPROVED CF CLINIC and have her seen by a CF SPECIALIST. Dont put this off. Nothing good can happen if you wait.

I never heard of a "benign" CF mutation.

Good luck,
Bill
 
R

Ratatosk

Administrator
Staff member
It is kind of odd that a sweat test has been ordered; however, the same thing was done with DS. He was diagnosed with double delta f508 at 6 days and a few weeks later someone ordered a sweat test. Which was normal and that confused us, two parents already overwhelmed and in denial, even more.
 
R

Ratatosk

Administrator
Staff member
It is kind of odd that a sweat test has been ordered; however, the same thing was done with DS. He was diagnosed with double delta f508 at 6 days and a few weeks later someone ordered a sweat test. Which was normal and that confused us, two parents already overwhelmed and in denial, even more.
 
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briarrose

New member
@Ratatosk -- I think it's because when they find a double mutation, they're checking to make sure that there wasn't an error and they didn't find the same mutation and just count it twice. (At least that's how it was explained to us. Our son has double W1282x.)
 
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briarrose

New member
@Ratatosk -- I think it's because when they find a double mutation, they're checking to make sure that there wasn't an error and they didn't find the same mutation and just count it twice. (At least that's how it was explained to us. Our son has double W1282x.)
 
R

Ratatosk

Administrator
Staff member
I have seen a positive sweat test as a requirement for some of the drug trials... But usually a sweat test is done first as it's more inexpensive and results are obtained much sooner -- hours vs. weeks. However, two copies of a mutation = cystic fibrosis. Just wish more clinics would explain their reasons for doing things the way they do. Like I said it was very confusing to us as new parents who had no family history, were told our child had cf and then given the results of a sweat test that were normal. Wasn't until DS cultured pseudomonas that it hit home that he actually DID have CF. We were still proactive, did treatments, meds, etc. but in the back of our minds we kept thinking, hoping that it was all just a big mistake because of that silly sweat test.
 
R

Ratatosk

Administrator
Staff member
I have seen a positive sweat test as a requirement for some of the drug trials... But usually a sweat test is done first as it's more inexpensive and results are obtained much sooner -- hours vs. weeks. However, two copies of a mutation = cystic fibrosis. Just wish more clinics would explain their reasons for doing things the way they do. Like I said it was very confusing to us as new parents who had no family history, were told our child had cf and then given the results of a sweat test that were normal. Wasn't until DS cultured pseudomonas that it hit home that he actually DID have CF. We were still proactive, did treatments, meds, etc. but in the back of our minds we kept thinking, hoping that it was all just a big mistake because of that silly sweat test.
 
C

CrisDopher

New member
CF is a diagnosis based on SYMPTOMS, not genetic markers. Many genes fail to express themselves even when we expect them to. The gold standard for CF diagnosis, after a workup that has evaluated the patient and identified CF-inclusive symptoms, is the sweat test. High chloride = CF. Do not mistake having a particular gene or two as having the disease it is associated with. (Admittedly, in people w/ CF it is a strong correlation.)
 
C

CrisDopher

New member
CF is a diagnosis based on SYMPTOMS, not genetic markers. Many genes fail to express themselves even when we expect them to. The gold standard for CF diagnosis, after a workup that has evaluated the patient and identified CF-inclusive symptoms, is the sweat test. High chloride = CF. Do not mistake having a particular gene or two as having the disease it is associated with. (Admittedly, in people w/ CF it is a strong correlation.)
 
A

Anomie

New member
I didn't know it was posible for a cf gene to cause asthma. I thought the cause of asthma was still largely unknown.
 
A

Anomie

New member
I didn't know it was posible for a cf gene to cause asthma. I thought the cause of asthma was still largely unknown.
 
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