Hello,
I'm 31 and trying to figure out why I've had a cough for over a year. It's driving me crazy and any ideas would be very much appreciated!
It's now been misdiagnosed about 8 times by 5 different doctors, and now they're just flat-out telling me they have no idea. They keep ruling things out (list available if anyone thinks it would be helpful), but they can't tell me why I'm coughing.
I got to the CF board after doing some research on my own. I tried searching Yahoo on some of what I'd said to my PCP on my last visit. I very distinctly remember saying "The only symptoms I've had as long as I've had the cough, are things I've had my whole life: I eat constantly but can't gain weight [I'm 5'5", 113 lbs], and my nose has been running my entire life. And I still think this cough might be connected to the pneumonia I had in '98." Well, knowing what I read about CF within the past few days, I'm surprised a light didn't go off in his head at that point. But he just said he didn't think these things were connected.
So, like I said, I did some research on my own and my searches pulled up a lot of CF sites, so I thought maybe that was it. And also, I noticed that it would explain my severe pretzel addition (which I hadn't mentioned to my doctor because I thought it was psychological), because doesn't CF cause excess loss of salt in the sweat? So maybe it was a physical craving for salt?
But here's the thing, I called my doctor and asked about CF, he said he thought it was "highly unlikely, but anything's possible," and did a referral for a blood DNA test, which I had. But his office just called and said it came out NEGATIVE. So now I'm totally frustrated, because I really thought that was it. Assuming his office didn't mess up & give me the wrong result, what now?
Is there any chance the blood test was wrong? Or does anyone know of a disorder that's similar to CF but maybe milder, and where the blood test comes out negative?
Really sorry this post is so ridiculously long. I really have to get rid of this cough, at this point I would be happy to hear any correct diagnosis no matter what it is, or any kind of pointer in the right direction. Thanks very much.

Hi! I just read your message and just feel for you! I can relate to true frustration although my situation is totally different. Have they tested all your Immunoglobins? (i.e. a basic immune system test? Did they do a sweat chloride test yet? Even though your dna was negative - it sounds like your salt levels, etc. may be effected. I would insist. I'm not sure what they have and havent ruled out - and I'm guessing they have done a CAT scan of your sinuses, and a chest x-ray - if not insist on that too! Do you have any basic allergies that you know of or have been tested for? Just some suggestions - my son, although he is only 21/2 yrs has same symptoms, problems since birth and we've been referred to 6 different specialists - ENT's, allergists, internists, etc. - none seem to know what is wrong or what to do. Recent tests seem to be finding some answers, but not much. Trust your instincts about yourslef as you know you better than anyone else. Don't be afraid to insist about ideas you may have that doctors haven't tried yet - trust me! Doctors are human and aren't always right. Good Luck!

Thanks for your reply.
They haven't done any kind of immune system test or sweat test, I guess I'll ask about them.
They ruled out lung problems with a lung x-ray and pulmonary function test.
They did a CAT scan of my sinuses which only showed a slight swelling. They prescribed a steroid medication which was supposed to reduce the swelling. It didn't do anything at all for the cough, and I guess it didn't reduce the swelling either, because recently when the ENT looked in my sinuses he saw swelling and discharge.
It doesn't seem to be anything infectious, as 3 different antibiotics didn't help, and the ENT said if it were fungal it would have shown up on the CAT scan.
For about 6 months they were insisting it was GERD even though 4 different medicines for GERD didn't get rid of the cough (although they seemed to help somewhat), but now that's been ruled out with an upper endoscopy and barium swallow.
My nose has been running my whole life, which I've always been told was allergies, even though allergy medicines never have the slightest effect on it, so who knows.
I just made an appointment for a sinus MRI which is supposed to show more details than the CAT scan, hopefully it will be helpful.
Good luck with your son. Yes, it's very frustrating when the doctors seem to be taking random guesses. But you're right, the patient or people close to the patient in some ways know more than the doctors.
I'll post again if I find out anything useful.

Has any Dr ever suggested Celiac Disease along with the resp-type allergies? If you have any probs with diarrhea or "oily, floating" bms that have a foul odor, that may be a reason for low wt gain....I have a 15 yr old, who has just begun to catch up to his peers...who has cd and severe asthma...upper resp probs with freq hospitalizations growing up..who now has changed his diet enough to begin to thrive... check it out....

could it be due to a post-nasal drip?

Hi,

Did you ever find out an answer? I am in a very similar situationn to you. I am so desperate for help. No-one will help me. I have just joined this site and have posted a new message today - do my symptoms sound familiar to yours??

I hope at least you found an answer.
Claire S

You should really have a sweat chloride test if you suspect CF... I've always been told that's the only true way to diagnose. There are hundreds of genetic mutations for CF, so if they only tested for the most common one (which is likely)it would have come back negative....

OK, I finally pestered my doctor enough that he ordered a sweat test -- although he kept saying "I'm sure you don't have CF, it would have been diagnosed by now" -- and they just called me with the results. It came back BORDERLINE so I have a retest scheduled for next week. This is getting more and more annoying!

Does anyone know if the test result is correlated with the severity of symptoms? If I actually do have CF, then it's an unusually mild case, so if there's a correlation it would make sense for the result to be borderline or low-positive. Or of course, this might be some kind of fluke and the next one will be negative.

Thanks, everyone, for your replies. I'll post again when I get more info.

My sons DR is working completely opposite of yours but with the same resulting frustrations, he had 2 sweat test both came back borderline, he is scheduled for dna testing to begin next week. His Dr also said if he has cf it would be "unusually mild" In my research I have read that DNA testing misses about 20% of cf cases because not all mutations have been identified, so if you don't have one of the more common mutations it can be missed. His Dr is basing his dx on this DNA test and that worries me. Just by what I have read and of course I know my sons med history I am sure he has cf but if the DNA test is neg then he will not be treated for it. Please let us know how your second sweat test comes out. and how long did it take for you to get your results from the DNA test? It is getting hard to get straight answers from the DR I think he is trying not to worry me to much and what he is doing is making it worse.

We went through this experience with my now 7y daughter.Skylar has respiratory problems but no GI problems.Her first sweat test was positive,her 2nd was borderline.They did DNA testing and 1 copy of the DF508 showed up and the other "unidentified".

Unfortunatly DNA testing does miss a % of people..My dd included.

Her ped pulmo ended up diagnosing CF and began treating her for it..She improved greatly.We had a dissapointing visit to the closest CF clinic(over 3hrs away)....They agreed with her dx but there was nothing else to do for her(Then why the heck did we drive 3 hrs to see you!).So shes seeing her original ped pulmo.

Her ped at the time didn't think she could have it and told us that it was probably a false positive...

She was 5 1/2-6y when all this went on.Shes 7y now and thriving.She is labeled as having CF as well as asthma.

I just got the result from the second sweat test -- it was also borderline and almost identical to the first. So they want me to schedule an appointment with a doctor there who will send me for some different tests. They said they can do a genetic test that's more accurate than the one I had previously (which was negative).

Here's what I don't understand: for the past two years, doctors have been incredibly quick to misdiagnose me with and prescribe medication for all kinds of different things that there was little to no evidence at all to support. But from my experience and other people's postings, it seems that doctors are strangely reluctant to make or even consider a diagnosis of CF, despite a multitude of symptoms and borderline or even positive results. Why? Is it just because it's more rare than allergies, GERD or what-have-you? Or because it's more serious? Or because the drug companies are pushing their new (patented) GERD drugs instead of older drugs for CF? Or what?

Good luck, everyone. I'll post again when I (hopefully) get more info.