Negative sweat test, but still have CF

[kgfrompa]

They removed most of my left lung said That i had emphysema when I was 49 I started having problems with kidney stones in my teens then had gall bladder removed at 19.Also I have had 14 chest tubes always sick the answer is I got on SSI and had health insurance and I ended up at NIH where they had my doctor do the testing that gave me the answer.Thank you for asking Kathy

 

[traxster]

My son's sweat test was 16, I think. Not even borderline. What they found was a genetic mutation called the 5T allele, which from what I am reading, on its own means nothing. But that, paired with another CF mutation will lead to a mild form of CF. So, we are waiting for the Ambry Amplified testing to come back.

Here is the link for the research that was done that is leading my son's pulmonologist to think this. He is treated by UNC and the research was done there.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.unc.edu/news/archives/aug97/friedman.html">http://www.unc.edu/news/archives/aug97/friedman.html</a>

 

[traxster]

My son's sweat test was 16, I think. Not even borderline. What they found was a genetic mutation called the 5T allele, which from what I am reading, on its own means nothing. But that, paired with another CF mutation will lead to a mild form of CF. So, we are waiting for the Ambry Amplified testing to come back.

Here is the link for the research that was done that is leading my son's pulmonologist to think this. He is treated by UNC and the research was done there.

<a target=_blank class=ftalternatingbarlinklarge href="http://www.unc.edu/news/archives/aug97/friedman.html">http://www.unc.edu/news/archives/aug97/friedman.html</a>

 

[traxster]

My son's sweat test was 16, I think. Not even borderline. What they found was a genetic mutation called the 5T allele, which from what I am reading, on its own means nothing. But that, paired with another CF mutation will lead to a mild form of CF. So, we are waiting for the Ambry Amplified testing to come back.
<br />
<br />Here is the link for the research that was done that is leading my son's pulmonologist to think this. He is treated by UNC and the research was done there.
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.unc.edu/news/archives/aug97/friedman.html">http://www.unc.edu/news/archives/aug97/friedman.html</a>

 

[TonyaH]

Hi Traxster,

My son is followed by UNC peds pumonary as well. They are a fantastic team! I cannot say enough great things about them!

My son is 12 now, and in those years I have heard of so many stories of CF diagnosis' missed due to negative sweat tests. My mother was one of those cases, back when sweat tests were not followed up with genetic tests. It was not until my son was diagnosed that all of the puzzle pieces came together, and by then it was too late.

I also wanted to comment on your statement about a 'mild' case of CF. I think you will find at UNC and in most centers around the country, that CF is CF. Every case is progressive. While certain mutations may present with less severe outcomes, there is so much scientists are still learning about modifier genes, etc., that makes it impossible to predict the outcome of a patient based on their genotype. So, expect UNC to be proactive in your child's care. And that is a good thing. You would never want to look back 20 years from now and wish you had done something more to protect your child's lung funcion!

Best of luck to you as you search for answers!

 

[TonyaH]

Hi Traxster,

My son is followed by UNC peds pumonary as well. They are a fantastic team! I cannot say enough great things about them!

My son is 12 now, and in those years I have heard of so many stories of CF diagnosis' missed due to negative sweat tests. My mother was one of those cases, back when sweat tests were not followed up with genetic tests. It was not until my son was diagnosed that all of the puzzle pieces came together, and by then it was too late.

I also wanted to comment on your statement about a 'mild' case of CF. I think you will find at UNC and in most centers around the country, that CF is CF. Every case is progressive. While certain mutations may present with less severe outcomes, there is so much scientists are still learning about modifier genes, etc., that makes it impossible to predict the outcome of a patient based on their genotype. So, expect UNC to be proactive in your child's care. And that is a good thing. You would never want to look back 20 years from now and wish you had done something more to protect your child's lung funcion!

Best of luck to you as you search for answers!

 

[TonyaH]

Hi Traxster,
<br />
<br />My son is followed by UNC peds pumonary as well. They are a fantastic team! I cannot say enough great things about them!
<br />
<br />My son is 12 now, and in those years I have heard of so many stories of CF diagnosis' missed due to negative sweat tests. My mother was one of those cases, back when sweat tests were not followed up with genetic tests. It was not until my son was diagnosed that all of the puzzle pieces came together, and by then it was too late.
<br />
<br />I also wanted to comment on your statement about a 'mild' case of CF. I think you will find at UNC and in most centers around the country, that CF is CF. Every case is progressive. While certain mutations may present with less severe outcomes, there is so much scientists are still learning about modifier genes, etc., that makes it impossible to predict the outcome of a patient based on their genotype. So, expect UNC to be proactive in your child's care. And that is a good thing. You would never want to look back 20 years from now and wish you had done something more to protect your child's lung funcion!
<br />
<br />Best of luck to you as you search for answers!

 

[traxster]

Hi Tonya,

Thank you for the info. Yes, UNC peds has been excellent. With all of the issues ds has had over the years, it wasn't until we had to find a new ENT (our was Dr. Cook, who was in the accident with the ballerina) that we were referred to UNC and he was the first person to ask if we had been tested for CF. And yeah, you caught me. I was holding out on the whole "mild case" scenario to make myself feel better. Truth is, his sinuses are a mess, he wheezing constantly, and has already grown some nasty stuff in his lungs and if the culture comes back positive, they will end up starting him on Tobi, and that is before the test results come back in a few weeks.

You are right...when/if the time comes, I need to focus on care, not just whether it will be as serious as other cases. I was just thinking the whole time that since he had none of the digestive issues that there was no way he could have it. With all my research I have done over the past few days and weeks, CF can present in many different ways. And it is still possible that digestive issues could come later. Who knows, right? Who is your doctor? We see Dr. Henry. She is so nice and spends so much time with us. Its definitely not like it was when we would go to the ENT or the pediatricians office.

 

[traxster]

Hi Tonya,

Thank you for the info. Yes, UNC peds has been excellent. With all of the issues ds has had over the years, it wasn't until we had to find a new ENT (our was Dr. Cook, who was in the accident with the ballerina) that we were referred to UNC and he was the first person to ask if we had been tested for CF. And yeah, you caught me. I was holding out on the whole "mild case" scenario to make myself feel better. Truth is, his sinuses are a mess, he wheezing constantly, and has already grown some nasty stuff in his lungs and if the culture comes back positive, they will end up starting him on Tobi, and that is before the test results come back in a few weeks.

You are right...when/if the time comes, I need to focus on care, not just whether it will be as serious as other cases. I was just thinking the whole time that since he had none of the digestive issues that there was no way he could have it. With all my research I have done over the past few days and weeks, CF can present in many different ways. And it is still possible that digestive issues could come later. Who knows, right? Who is your doctor? We see Dr. Henry. She is so nice and spends so much time with us. Its definitely not like it was when we would go to the ENT or the pediatricians office.

 

[traxster]

Hi Tonya,
<br />
<br />Thank you for the info. Yes, UNC peds has been excellent. With all of the issues ds has had over the years, it wasn't until we had to find a new ENT (our was Dr. Cook, who was in the accident with the ballerina) that we were referred to UNC and he was the first person to ask if we had been tested for CF. And yeah, you caught me. I was holding out on the whole "mild case" scenario to make myself feel better. Truth is, his sinuses are a mess, he wheezing constantly, and has already grown some nasty stuff in his lungs and if the culture comes back positive, they will end up starting him on Tobi, and that is before the test results come back in a few weeks.
<br />
<br />You are right...when/if the time comes, I need to focus on care, not just whether it will be as serious as other cases. I was just thinking the whole time that since he had none of the digestive issues that there was no way he could have it. With all my research I have done over the past few days and weeks, CF can present in many different ways. And it is still possible that digestive issues could come later. Who knows, right? Who is your doctor? We see Dr. Henry. She is so nice and spends so much time with us. Its definitely not like it was when we would go to the ENT or the pediatricians office.

 

[traxster]

Also, how is your son? He was diagnoses at age 11? What were some of the things he went through before getting a diagnosis? Was his sweat test positive?

 

[traxster]

Also, how is your son? He was diagnoses at age 11? What were some of the things he went through before getting a diagnosis? Was his sweat test positive?

 

[traxster]

Also, how is your son? He was diagnoses at age 11? What were some of the things he went through before getting a diagnosis? Was his sweat test positive?