Can't get sweat test without diagnosis first? What?

[iceskater7]

Hello friends!

I recently had a genetic test done, and no mutations appeared. However, I'm 24 and my primary issues are GI and sinus, with mild lung involvement, and a friend in genetic counseling told me that she would be shocked if any mutations showed up in a standard panel, and that my case would likely need sequencing to find any mutations. All of my research done in medical journals seems to support this.

So I've asked my doctor to send in a referral to a sweat chloride test, which she did, however the hospital (which has an accredited CF center) called my doctor back and said that it can't be done without a diagnosis first. Have you ever heard of such a thing? I thought sweat chloride was used as a diagnostic test? So now all of my doctors are calling each other, scratching their heads, because the problem is that I don't HAVE a diagnosis.

What can I even do at this point if none of my doctors are willing to work with me on this? The GI who ordered the genetic testing, which I'm guessing wasn't a large panel, doesn't seem to understand that a standard CF mutation panel doesn't necessarily rule out CF--even though she is originally the one who thought that I had CF! I feel like I'm running in circles, and in the meantime my health is in quite a miserable state.

Any sage advice would be greatly appreciated at this point. I know there are many of you on here who had late diagnoses and surely went through similar problems.

Thanks,
Kristen

 

[Ratatosk]

Although it's always been advised to go to a CFF accredited facility to get a sweat test for consistency and accuracy, any medical clinic can do one... So you could see if your doctor could do it. I guess I'd get ahold of my chart/records and see exactly what your doctor requested and what the response was. Maybe there was a misunderstanding.... Contact the CF clinic yourself....

Or... when we struggled with local doctors/clinics being unwilling to run tests -- at the time our newborn was sick and we were concerned with another bowel obstruction and the doctor at the hospital wasn't going to do an ultrasound or scan or run blood cultures --- so we said "we want this in writing, your reasons for not conducting the tests and it placed in our file". Apparently, not wanting to have a paper trail in case things went sideways was the ticket because soon afterwards I was walking down to radiology for an ultrasound with DS and bloodwork and cultures were ordered. No obstruction, but apparently he picked up a bug common in NICUs which gave him a nasty productive cough, fever and stomach issues.

 

[veggiebin]

We had two negative sweat chloride tests on our daughter, but the doc still sent a sample to ambry for genetic testing because of clinical signs. Two pathogenic mutations were found, on separate strands (one from each parent). Ask your dr. to send it to ambry and ask for the full cftr test. It did not cost us that much (that was over a year ago though...). The panels will not catch the more rare mutations.

 

[LittleLab4CF]

My experience was in 2001-2002 so any sage advice is dated. In obtaining a CF diagnosis, in short, we went to Boston's Beth Israel Deconess Center and saw one of the 4 pancreatolgists in the U.S.. At least that was the rumor according to a large number of people, fellow doctors and patients included. Dr. Steven Freedman was just about to devote his efforts to the pancreas and CF, among other things.

After performing a record setting pancreatic function test, he raised the possibility of CF. Within walking distance was Boston Children's Hospital. There was no way to know what my insurance would pay for something done at a place I didn't belong so they offered me a cash price which was around $120.

For the hassle, it might be easier to just pay the cash price. If it is beyond your means, a payment plan is usually available. It's not likely to be more expensive accounting for inflation and you can shop around. Most people don't know what the cost of a sweat test is.

Hope this helps,
LL

 

[Kristan]

Hi,
Sorry for posting late. If you have not had success getting a full genetic panel done, you can request to meet with a genetic counselor. I had a negative sweat test as a child, and came up negative on 3 basic panel tests (kept running it since they were sure I had it). Since I never tested for even one gene mutation, the CF doctor said he would still treat like CF since it presented similar. A few years later I pushed for more info (I have 3 kids) and my doctor sent me to a geneticist. Great experience since they review many different causes and select genes to test based on symptoms - leads to a diagnosis or basis for more testing. Good Luck!