Sweat Test

[AleksandraKaczynska]

We also did not have to wait for the genetic test to come back - to start treatment as Joanna sweat test was possitive.
<br />However - in Europe - sweat test is more important - and is the basic for dx. The genetic test and number of mutations of the gene are so many and the number is still growing. Many mutations turn out acctually not to be cf and some are only when they pair with certain other.
<br />But if the test was clear on the mutations your daughter has - why postpone her treatment.
<br />I agree that you should call the cf center - and even exaggerate - so they would examine her and apply the needed treatment.

 

[Hannah4025]

Thanks guys! We went and had her sweat test done yesterday. She did fine. She has't shown any syptoms. She health and gaining weight. So that is not a problem. They are suppose to be calling us today to let us know the results of the test. They told us they wanted her to retake it even if he comes back negative in a couple of months. She is just now 2 months old. Guess it is just a weighting game. We did find out what mutations she had wich was R117H and Delta F508. Anybody know anything on these? I have been trying to research them; however, it gets to be too much information online and hard to understand.

Thanks!
I will let ya'll know the results of the sweat test.

 

[Hannah4025]

Thanks guys! We went and had her sweat test done yesterday. She did fine. She has't shown any syptoms. She health and gaining weight. So that is not a problem. They are suppose to be calling us today to let us know the results of the test. They told us they wanted her to retake it even if he comes back negative in a couple of months. She is just now 2 months old. Guess it is just a weighting game. We did find out what mutations she had wich was R117H and Delta F508. Anybody know anything on these? I have been trying to research them; however, it gets to be too much information online and hard to understand.

Thanks!
I will let ya'll know the results of the sweat test.

 

[Hannah4025]

Thanks guys! We went and had her sweat test done yesterday. She did fine. She has't shown any syptoms. She health and gaining weight. So that is not a problem. They are suppose to be calling us today to let us know the results of the test. They told us they wanted her to retake it even if he comes back negative in a couple of months. She is just now 2 months old. Guess it is just a weighting game. We did find out what mutations she had wich was R117H and Delta F508. Anybody know anything on these? I have been trying to research them; however, it gets to be too much information online and hard to understand.
<br />
<br />Thanks!
<br />I will let ya'll know the results of the sweat test.

 

[hmw]

I'm so glad to hear that so far your baby is doing well. I hope that continues for a very long time- with appropriate preventative care that can certainly be the case. <img src="i/expressions/face-icon-small-smile.gif" border="0">

I'm glad you know the mutations. DF508 is the most common mutation. R117H is not considered as severe but is disease-causing when paired with DF508. Regardless of the results of the sweat test, your child has CF and will need to be followed by an accredited CF center and given preventative care.

 

[hmw]

I'm so glad to hear that so far your baby is doing well. I hope that continues for a very long time- with appropriate preventative care that can certainly be the case. <img src="i/expressions/face-icon-small-smile.gif" border="0">

I'm glad you know the mutations. DF508 is the most common mutation. R117H is not considered as severe but is disease-causing when paired with DF508. Regardless of the results of the sweat test, your child has CF and will need to be followed by an accredited CF center and given preventative care.

 

[hmw]

I'm so glad to hear that so far your baby is doing well. I hope that continues for a very long time- with appropriate preventative care that can certainly be the case. <img src="i/expressions/face-icon-small-smile.gif" border="0">
<br />
<br />I'm glad you know the mutations. DF508 is the most common mutation. R117H is not considered as severe but is disease-causing when paired with DF508. Regardless of the results of the sweat test, your child has CF and will need to be followed by an accredited CF center and given preventative care.

 

[Shelbyville]

Hannah4025

Congratulations on the new addition hope all is going well. I'm very direct so do not take offense to the reply. Regardless of what your doctors tell you you're messing with a potential nasty beast that will in time maybe a long time (if you're lucky) not show its ugly head! It's in your best interest to find the time to go through this data base / forum and see all the manifestations of the MILD MUTATION your little one carries it should scare the hell out of you. Maybe enough to start looking for a clinic that is a bit more knowledgeable. This mutation may not be classic and that's a break however it's not to be ignored. Best of luck I hope all goes well and the aforementioned does not offend you or your precious new addition.

Steve

 

[Shelbyville]

Hannah4025

Congratulations on the new addition hope all is going well. I'm very direct so do not take offense to the reply. Regardless of what your doctors tell you you're messing with a potential nasty beast that will in time maybe a long time (if you're lucky) not show its ugly head! It's in your best interest to find the time to go through this data base / forum and see all the manifestations of the MILD MUTATION your little one carries it should scare the hell out of you. Maybe enough to start looking for a clinic that is a bit more knowledgeable. This mutation may not be classic and that's a break however it's not to be ignored. Best of luck I hope all goes well and the aforementioned does not offend you or your precious new addition.

Steve

 

[Shelbyville]

Hannah4025
<br />
<br />Congratulations on the new addition hope all is going well. I'm very direct so do not take offense to the reply. Regardless of what your doctors tell you you're messing with a potential nasty beast that will in time maybe a long time (if you're lucky) not show its ugly head! It's in your best interest to find the time to go through this data base / forum and see all the manifestations of the MILD MUTATION your little one carries it should scare the hell out of you. Maybe enough to start looking for a clinic that is a bit more knowledgeable. This mutation may not be classic and that's a break however it's not to be ignored. Best of luck I hope all goes well and the aforementioned does not offend you or your precious new addition.
<br />
<br />Steve

 

[Hannah4025]

Thanks everybody. We did find out more information. Her sweat test came back negative. She has CFTR-Related metabloic syndrome also called CRMS. Haven't been able to find out much about it so far. Was recently published in the Journal back in December '09. We are going to go back for another sweat test at 6 months and they are going to see her in Clinic.

If anybody knows anything about CRMS please help me understand more!

 

[Hannah4025]

Thanks everybody. We did find out more information. Her sweat test came back negative. She has CFTR-Related metabloic syndrome also called CRMS. Haven't been able to find out much about it so far. Was recently published in the Journal back in December '09. We are going to go back for another sweat test at 6 months and they are going to see her in Clinic.

If anybody knows anything about CRMS please help me understand more!

 

[Hannah4025]

Thanks everybody. We did find out more information. Her sweat test came back negative. She has CFTR-Related metabloic syndrome also called CRMS. Haven't been able to find out much about it so far. Was recently published in the Journal back in December '09. We are going to go back for another sweat test at 6 months and they are going to see her in Clinic.
<br />
<br />If anybody knows anything about CRMS please help me understand more!