Positive sweat test, not a clear diagnoses? (looking for experiences)

[beautifulsoul]

Hi Everyone,

My mom posted in the newly diagnosed forum about a year ago. I'm posting what she originally posted (plus an update) in hopes of a few more responses. She has had two sweat tests done. The first result was 58 and the second one was 78 confirming a CF diagnoses. We already know one of her mutations is DEL508 but it's taking them a while to find what the second one is. We still don't know. I'll keep you updated on that. Here is her original post:

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. - See more at: http://forum.cysticfibrosis.com/thr...tests?highlight=tracy390#sthash.WiQ8HeyS.dpuf

 

[madmax33]

Yes you are correct the sweat test is the Golden Standard. I also had two high sweat test, 87, and 90 and still do not have a diagnose. Also there are rare mutations and she would need a full genetic panel. Still does not mean they will find the other one. all I can say, she should get into a creditable CF Center.

 

[Printer]

I was dx in 1987 at age 47 after two negative sweat tests. Because I had numeral bouts of pancreatitis and other "symptoms" and the leading CF Doctor (of her time) making the dx, CF it was. In the early 60's they discovered that I had Delta F508, after testing for only 250 mutations. In 2011, I was given a FILL CF SEQUENCING, it was then that they found that I have my second mutation.

It is time that your Mother go to one of the leading CF Clinics in the US and see an CF Specialist that specializes in ADULTS. It does not matter which lab (AMBRY) tests the blood, the test must be for a FULL CF SEQUENCING and not a smaller screening.

Bill

 

[JustaCFmom]

I tested positive on both my sweat tests. I am not really symptomatic (at 49) but I would revisit this if I get any real symptoms. I suffer from hypothyroidism, which can skew the results, I think. The doctor was very thorough, and my lung functions are over 100% predicted. I have a daughter, who isn't even a carrier, who was borderline & then positive with her sweat test. That still makes me uneasy because they didn't have an answer for me. She had one bad winter, but has been fine since then.

Good luck in your search & I hope you get the correct diagnosis.