Borderline & positive sweat tests

[Tracy390]

I am 48 years old & have a daughter with CF who had a double lung transplant 7 years ago. Because of 4 bouts of pancreatitis over the past 2 years with no apparent cause my GI Dr. agreed to a sweat test. The first came back borderline at 57 & the 2nd came back at positive at 71. My GI Dr. still does not believe the sweat tests were accurate & ordered genetic testing which was sent to Ambry Genetics (1 week ago). I also have GI problems & my husband has always told me my skin is very salty. I have never had any significant lung issues other than a few incidents of bronchitis. I live in FL & not sure what center to go to. I called Tampa General & they want to wait for the genetic testing results before scheduling an a appointment which is very frustrating. Does anyone know how long the testing takes? Has anyone had a positive sweat test with negative genetic testing? I spoke to my daughter's CF Dr. & he said the sweat test remains the "gold standard" for checking for CF & he believes the tests are accurate. I am confused & frustrated waiting for results. Obviously I know a lot about CF from dealing with my daughter's CF over the past 23 years but don't really know what to expect for myself since I have been diagnosed so late in life. I have been recently started on enzymes. Any input would be appreciated.

 

[JustaCFmom]

"he said the sweat test remains the "gold standard" for checking for CF "

Personally, I am not so impressed by that "gold standard" from my experiences. I tested positive, most probably due to carrier status and hypothyroidism. My 5 year old tested positive and she isn't even a carrier! The genetic tests saved us from a CF diagnosis for her.

Good luck and feel good.

 

[stephen]

Tracy390:

Let me start by saying that finding out you have CF at the age of 48 is not such a bad thing. In fact, it could end up being quite positive. The diagnosis can open access to an exciting and expanding array of new treatments.

The Sweat Test was the Gold Standard 10 plus years ago but as doctors have learned, and many people here can attest to, that's no longer the case.

Between 1990 and 2005 I personally had a number of sweat tests performed by different specialists. All were negative - not even borderline! In 2005 I went to Nation Jewish in Denver and they finally diagnosed me with CF via genetic testing.

That diagnosis led to a vast improvement in my health, and to me avoiding to have a lobe removed.

It also led to my starting Kalydeco 5 months ago today. Kalydeco almost completely eliminated all noticeable CF symptoms.

I hope you diagnosis brings you the relief I found, and that you and your daughter benefit from the new drugs being developed. Stay proactive!

 

[MichaelL]

I have CF but my sweat tests come back negative. I was diagnosed with CF at age 34 by genetic testing. People diagnosed later in life often have milder forms of CF. I have lung problems, but I am pancreatic sufficient. I've also heard of people in the reverse situation -- they have pancreas problems but no lung problems. CF affects people differently partially because of their mutations.

I agree with Stephen's comment above about getting proper treatment. I was sick for months and they couldn't figure out how to help me. Once I was diagnosed with CF, they put me on proper meds and I was feeling better in a week.

I can't remember how long the genetic test takes to come back. Good luck and I hope they're back soon.

 

[Aboveallislove]

Stephen,
pi just wanted to say how wonderful it is that kalydeco is making such a difference to you! Genuinely so happy for that. And of course for the hope it brings that the future combo, second and third generation drugs can mean that for ds and all CFers.