Can someone please clerify before my appointment Regarding Genitic Testing.

[madmax33]

Try to make this short and to the point. With all the mutations out there now, Which I understand is over 2000. Can someone clarify, Do you keep going through all of the genetic mutations out there, and with any of these new ones they are finding all the time, Can any of them (finding one or two confirm the diagnose of CF??)
the genetic test I had done was for a 112 and told this is the common ones?? Hope someone can help me here.

So my questions is, is it worth it to keep going through all the testing and any of these are mutations give a diagnose of CF? I have talked with Standford and they have told me they would do a full through evaluation.

Any one also know of mutations which are more common with having Genes from Scotland? Thanks

 

[Doglover]

With all the symptoms you have that are consistent with CF and having a positive sweat test I would not hesitate to have the full sequencing done. You said previously the Dr you were going to see would only give you a diagnosis if you had a common mutation. This sounds ridiculous given there are over 2000 and any two of those results in Cf, not just having one of the most common 112.

 

[LittleLab4CF]

I was surprised that your doctor was ordering anything short of a full amplified CFTR mutation analysis, the test for all CF gene mutations. A short test is a waste of effort. With 2 positive sweat tests, there's more than enough reason to run a full genetic test in the range of 2000 different mutations. SPINK 1 is another mutation that causes pancreatic cystic fibrosis and it may be in the full test, but ask for it anyway.

A simple test for 115 CFTR mutations is not unlike the full test. They draw blood or use a mouth swab and off it goes to the laboratory. The full test takes longer and costs more but you have something of value. Maybe your doctor is being conservative meaning he plans to run a full test next. Unless there's some odd financial issue or with insurance, demand a full genetic test.

Scotch-Irish have statistically significant higher percentage of CF in their population. The incidence of CF seems to be an Anglo Saxon thing including British Commonwealth, Sweden, Norway, Denmark, NOT Finland but other Baltic states like Poland and Slovakia. Someday soon we may be able to pin down certain genetic families or a CF Eve. I believe your question was to narrow down what mutations to test for. The most common mutations don't imply all the worst cases of CF although they usually are. I would expect unusual genetics in a person who's lived as long as you have. More reason for a complete test.

Here's the long story. CF is a monogenetic disease or single gene disease. This is rare in genetics and almost unheard of in mammals and it is a near ideal candidate for a scientific study. CF ite autosomal recessive disorder that requires 2 identical mutations to cause CF, (not true, read on) another research topic advantage. So in the late 1980's, CF was discerned from several angles. We knew what CF was doing at the cellular level and the probable biochemistry of the sodium channels or portals on the cell membranes. And the disease amazingly worked like lucky Gregor Mendel's pea plants in population genetics. The CFTR gene was a geneticist's dream and still is, thank God.

CF was an ideal choice for a genetic disease study. In late 1989 a test for about 100 mutations was developed. This number grew and grew until the entire gene was sequenced and all possible mutations identified. Note my signature, the two dates I had genetic testing reflects when I had 2 positive sweat tests and shortly after the full ~2000 had been discovered. Many of us have repeated genetic testing because of the years it took to complete the list.

It turns out that CF has some quirks, probably to keep geneticists humble, but not everything known about CF in 1989 or 1999 has stayed true. The biggest issue might be the need for identical mutations. We have two of every chromosome in every cell excepting sperm and eggs that carry just half of our genetic expression. With some intermixing and twisting, we otherwise inherit one set of chromosomes from each parent. If you inherit ∆F508 from dad and mom, genetically you have CF. If you inherit ∆F508 from dad and G551D from mom do you have CF? Until recently, it didn't fit the accepted definition, it is definitely CF genetically by current definition and sadly in reality.

The expansion to include a deleterious mutation on each chromosome just became obvious as diagnosed CFer's full CFTR mutation assays were compiled and analyzed. The ability to identify all the CFTR mutations has greatly outstripped our capacity to analyze each individual mutation for virulence. We are crawling through the list but I doubt we're close to vetting half of the mutations. And many have scant data, sometimes benign sometimes virulent? Come on!

To make things worse, not all CFTR mutations are recessive. My S1235R is virulent in single copies. Virulent mutations weren't anticipated and there was good reason for this oversight. Mutations usually resemble a missing step or instruction in a recipe which usually stops the process of regulating chloride ion transport. If one chromosome has a mutation and the other chromosome doesn't, our wonderful good chromosome fills the job adequately. From this, we get CF carriers, otherwise known as parents. Parent carrier's can have a child that is a carrier, normal or a one in four chance of CF so potential parents can also be carriers. A single mutation that interferes with the good gene's operation on the other chromosome is not a benign mutation. This and other nuances in CF genetics makes one wonder why bother being tested at all. Trust me, there's good reasons.

So, we've gone from two identical mutations to two mixed mutations to certain dominant single mutations that are all CF genetically. There are non mutation mutations like T polymorphisms and others yet to be identified but genetics is only half the equation. The clinical presentation or the health issues that identify CF ultimately defines whether you have CF.

Most importantly the new genetic drugs for CF are a reality, Kalydeco has FDA approval for G551D and soon with other genetic drugs in the pipeline promising a cure, you've got to have a full CFTR mutation assay. Making sure approximately 2000 CFTR mutations is in the test is the key, regardless of the term your doctor should choose.

I sense a resistance on the part of your doctor. It's not an unexpected attitude save the fact you're seeing a CF specialist. You may be in for a bittersweet surprise when they tell you the results from a full amplified CFTR mutation analysis. It's appropriate for you to be demanding the full genetic test. Cost might be a reason but it's a very thin one in my opinion.

Hope that helps,

LL

 

[madmax33]

Thanks so much to both of you!!

Thanks Doglover4u and LittleLabcf.
Appreciate the response. Helps a lot. Today is the appointment. I Wanted to know in advance about these mutations as I really feel from the conversation on the phone, He will say you don't have CF. (Being out of the 112 he called these the common and said I needed to have at least one) Just don't want the ball dropped on me. the insurance should not be a issue at all and when they ran the genetics I did ask for a FULL Genetics panel. For some reason he only did these 112.
If I get no where, I will get down to Stanford. IT is just a other stepping stone, as I will need a referral and with this Dr if he stops, This could create a problem trying to get a referral from a Other Dr down to Stanford?? The whole thing is just a nightmare. Hopefully I can just refer myself. Then of course where I live, My PCP does not think I have it at all and laughed and said I would not be alive. Seen him last week and he still is in total denial after I told him I have two sweat test positives. I went through a nightmare just here to get this far.

We see today what the Dr says. Thanks so much again.

 

[JustaCFmom]

Waiting anxiously to hear what happened...

 

[madmax33]

Hi All. Well I am so at a loss and just worn out today.. Still no diagnose. Spent 3 hrs with the Dr. He just feels I do not have it. Seems based on my lung functions. (I think then, well that should be a easy test then to avoid all theses others if you have good lung functions to give a CF diagnose. Also by the X-rays I do not have what they call CF Lungs. So he says well there is nothing to treat?? I posted my PFT prior somewhere on here. Feel like I am suffocating all the time and with the constant breathing problems and infections? I have a low 25-75% number and a low Diffusion. He does not feel I even have asthma. Now it is Emphazema. Well I have had that with different opinions off and on for yrs now. . I have had asthma since childhood. Also a improvement with the albuterol, is how I understand during the test why they say it is asthma. Regardless I am worn out.
He did offer to do a Genitic Map; Saying this is as far as you can go. (he said these new mutations are just for research purpose's only and not to diagnose CF.) He did state that maybe some Dr might say I have that CF Metabolic Disorder? He feels that the Genitic test will not show anything. He does not know why I have the high sweat test, but says it is probably the thyroid?? well gosh. It was higher then the 80 I was told over the phone. My thyroid is under control? It came out Chloride sweat of 84, and sodium sweat of 97.

I feel I am harboring resistant type bacteria's all the time, because of the lack of antibiotics to even work. Despite the ammonia I was told I had and have been on two treatments of antibiotics in the past 2 months, I am still coughing up green gunk! Never goes away. And my sinus seems to be horrible. You Know the worse symptom's I have had, has been the stomach issues, And sinus. I have felt that my lungs are pretty good despite the asthma. (Like I have it under control) All the other things are chronic. So for years despite this health issues , and where I live Doctors are just not doing any cultures on me concerned why antibiotics don't work . I did have that one bronchoscopy like I said, But from what I read about how that works, You do not do a culture after they do a wash?? So all this is just got me under and left feeling like I am crazy to even think I might have CF. Also that was through that yr and being on 7, 8 antibiotics and near the end of it all. My lungs where still covered with white sticky mucus, which has really bugged me.

So I don't know what else to do, Other then the Dr is willing to do a Mapping of Genetic mutations. He says we can disagree but that is ok. I feel they are not just versed on Adult Diagnose of CF. I asked how many patients over 40 and up have they diagnosed and have, And it is 0. He said they are very conservative. Also up here in Redding , the first sweat test I had a Mercy, that nurse told me I was only the 2nd patient she has tested in 30 yrs. This place is way back on medical science and there care and treatments. Many Drs for yrs have told me to go down south to a bigger hospital to get help.

Also With the test the Drs will do for me, also he let me know this is it, as far as you can go, the end of the line. So asked if nothing shows will I be done, accept it? also If something comes up, it is still not a diagnose of CF He still says you need to have one of the common. My daughter also asked for the pancreatic test, they don't do it there, but he is looking that up also to see where it can be sent, and will do that also. He did agree I am sick with a lot going on.

I also asked about the CF Diabetic test? He did not know what I was talking about and I could not think of the name. He said Diabetes is Diabetes regardless of CF. SO I did re think this and asked, isn't it treated different? He did say yes, but normally you have a glucose problem. Well with all this going on with me, not something I did discuss, but a other issues I am getting no where with up here. I have had elevated Glucose now of 4 yrs despite that I have low blood sugar. So concerned this is going the other way, especially after the diagnose of Poly neuropathy!!! Gosh, what does it take? I just don't know. I am peeing constantly, up through the night, vision problems, higher glucose reading, test for the 90 day average I have done twice( elevated on these) Despite it is not for a diagnose of diabetes.

He also agreed that maybe Stanford would help me as they are bigger hospital, and more involved in Research.

He will call me to set up these test, he said hopefully they can draw the blood up here so I do not have to travel. Then he will set up a phone call for results. So that is that!!!

I feel it will show up a mutation , if not two. Hopefully if this is the correct test for all of them. Regardless though, I am so worn out I can't even explain it. I have other health issues I am fighting to get help for, so it is all of this piling up!! I did not need a conservative place at this point in my life but thank full that this Dr is willing to spend time with me and do further testing . He said I am the first person he has ever done this for. I am just not in overall good health.
I am at the point if I had cancer show up and it stated this on a test, a Dr would say, I don't think so?? A vicious circle I am going around on at this point and making me feel nuts!!

Appreciate the concern. I am off balance today and very weak, the stress has really kicked my butt.

 

[madmax33]

Also wanted to say, the Dr talked with me about allergies and eating right. And how to clear out the sinus's. Those thing would help me feel better. I told him I would need a dietitian to put in on the right diet, Because when you are ill, one disease you eat this and for a other disease you don't. This only confused me again of why it is so important to get a diagnose to know what you have!!! I eat good and pay attention the best I can to what affects me.
I also asked about the plural effusion on the CF. He said I don't have that and don't know why they put that done. I forgot to ask about the Partial collapsed lungs? But two CT scans and one actually at UC Davis back in march, and one here, both state partial collapsed lungs. I guess if it is something If I have to worry about Or have it, I will find out if it puts me on the floor and to the hospital.

 

[jshet]

I think if you still have so many concerns and unanswered questions, you need to see another doctor. If that means traveling outside of your area, that's what you should do. Call and make an appointment, and start gathering your medical records, you need a second opinion. You are going to get nowhere with this doctor wether you have CF or not.

 

[jaimers]

This may be an accredited CF center but they clearly have few if any adult patients. You need to get them to refer you to a larger adult clinic that is actually able to help you. The bit about needing to have a common mutation in order to have CF is just plain wrong and even as a pediatric doc he should know that. That misinformation alone causes great concern about what the heck they are doing at that clinic! And CF related diabetes IS different than type I or II diabetes. So again, more misinformation. I think it would be in your best interest to ask for a referral and get to Stanford ASAP.

 

[madmax33]

Thanks for the replys. I really can't think straight right now as I am so worn out. All this stress and having to feel like I am defending myself was not what I expected in long journey and advocating for myself, to get this far. (and I don't mean here on the board) I was hoping, at the point of the first sweat , I would have had a more aggressive Approach and getting to the bottom of things.

I had called Stanford and plan on going there. Just confused right now, I hope that can work out. my other concern is when a Dr is saying you don't have this and the testing which has been done, remember the Insurance Co sees this. So just may be a other problem for me. And this is what has provoked the kind of care I have been getting where I live to begin with. I have watched as a pattern, and test which are conclusive, and the ball seems to Stop after this, (IF That Dr wants to say, I don't think so, or the test Is wrong, and so forth!!) Or on there report if they write up your test are neg and say things Like I think it is her lungs etc. (This is what the new Dr briefly looks at)

I also just have myself and my daughter to help me. It is a hardship for her also. I am also on a fixed income so getting places and doing this cost money. Just the way it is. Obviously if I had money and excellent insurance, This would not be going on with my health. Funny how much is the root of all evil, but also makes a big difference in what you can do in life and what kind of care you get.

I am really hoping to get well enough and move out of here.
I Am going to let this dr do the Genetic mapping as I think this will help me. Under the circumstances, I feel it will give me info and a reason then to proceed with Stanford.

Just very confused and depressed right now. Don't want to stop a genetic testing, get all the way to Stanford , then find out I hit a brick wall, because the other CF Center has listed there COMMON MUTAIONS Of the 102 in my records and states what he is telling me,, IMPOSSIBLE. Insurance Co may not approve any more testing. Hope I am making the right decision at this point, and this would be a correct test to get for all the 2000 mutation's. Sorry for rambling on here, I am just not doing good right now.


Everyone has been so kind with there support and help here , I just did not want to leave people wonder what happed after the appointment.

 

[madmax33]

This Center is a very small conservative CF Center. The Dr is a Pulmonary Dr and specializes in cancer. He was put on the CF team a decade ago. They clearly are not involved with older adults being diagnosed later in life. Have treated None or diagnosed none Over 40 .

The Dr feels I have clearly been misinformed and also feels this will save me time and the best test he can get done which will basically finalize this.

He did also state, maybe he might learn something from me, and maybe I might surprise him. Said I might be the woman he is talking about 10 yrs from now.

So it is obvious they are not involved in this research of the new mutations at all. But would have thought they certainly would have been well informed on it. But like I said , he said it is just research purpose of why they are doing it. Have a great nite everyone. I am hoping to feel better tomorrow and more positive.

 

[Doglover]

If I were you I would call Stanford immediately and see if you could schedule an appointment. You said they were willing to see you, and they can tell you if you need a referral. I would have them do all the testing since it is what they specialize in. We know many adults that go there, some quite a bit older than you. From everything you are saying it just seems like you are wasting your time and getting frustrated with a dr that does not have the proper info. Get to the people that are best equipped to help you get the answers you need.

 

[madmax33]

Thank you . you are probably correct. Hope I feel better tomorrow, and I will call. at least to see if I can get in. My prior conversations with them, was they would see me, and just sending the records myself.

 

[stephen]

madmax33,

Although I’m not a doctor it really makes no sense how you can be diagnosed as not having CF just based on your lung function. There are people here with FEV-1 lung functions of from over 100% to less than 30%, and all have CF.


As others have said, you should definitely seek another opinion.

I can highly recommend National Jewish in Denver. After years of seeing specialists at New York hospitals, I traveled to National Jewish. They had a program where you were evaluated as an out patient for a period of up to two weeks. (In my case it took five days.)

On my first morning there, I met with a medical team who had tests set up for that day based on medical records previously sent them. On each subsequent morning I met with the medical team to discuss results from the previous day’s tests and then under went additional tests and evaluations the team had planned. Insurance covered all the charges at National Jewish.

Since I had planned on spending two weeks there, and it took only one, my wife and I spent a week visiting sights in the area. It was one of the most productive and best trips I have ever taken!

I’m sure there are other very good medical centers for diagnosing CF besides National Jewish, but it is a lot closer to you than it was for me.

Good luck whatever you go, but do seek another opinion.

 

[madmax33]

Thanks Steven. Appreciate the response. Denver is not close to me at all . I have spoke with them in the past. That was the place which pushed me to get a sweat test!!!
My next closes place is Stanford, About 4 hrs away.

 

[JustaCFmom]

Good luck & don't give up!
For sure get a 2nd opinion!
I remember my family dr telling me I couldn't be pregnant if I was nursing (that was my 2nd child) I dumped him like a hot potato!!

 

[madmax33]

Thanks JustaCfMom.
I am trying. Going to call Stanford. Already ran into a Problem with the Map test the Dr I am seeing now said he would do. I am the first they have ever done one for, so I guess he did not know the only way to have it done you need a CF Diagnose and to be on the registry!! So now have to deal with insurance issues to get to Stanford.
Wow, we have something in commone with nursing and becoming pregnant. I had my first daughter at 17 (Preemie) And also nursed her and used a Delfoam for BC. I also got pregnant with my second daughter and was told also I could not get preg while I was nursing! Seem a life time ago. you take care and hope they find a cure soon...

 

[LittleLab4CF]

I am so sorry that you've had a less than satisfying experience in your search for a diagnosis. You are absolutely correct that FEV1 is not a reliable diagnostic test for CF. Your doctor is not keeping current. These new fangled genetic tests including the full profile of ~2000 mutations are five years old! Prior to the full test, tests included all the latest confirmed mutations so it has been a growing list since 1990. Since CF specialists aren't geneticists and the genetics of CF has been a rapid moving target since 1989, I tend to forgive doctors for being out of date. Unlike you or your doctor, I am a geneticist and can dismiss silly remarks like YOU'RE being misinformed. Trust this, your doctor is a medical dinosaur, time to try again.

Firstly, CF is frequently identified as a GI disease. In my lifetime CF has gone from being a pancreatic disease to a treatable pulmonary disease. Pancreatic cystic fibrosis is a term that faced extinction and has regained some popularity as late diagnosed CFers have become a large CF population subset. Medicine has become so focused on the lungs that the less lethal issues of the gut go untreated. I don't begrudge devoting resources to the pulmonary issues of CF. They are so very serious and so very lethal. It angers me that CF has been so focused on pulmonary issues it is perceived as a pulmonary only, disease for a lot of doctors including CF specialists in some cases. It also is often considered a pediatric disease and many adults are running into situations like you have.

Doctors have a "Prime Directive" sort of like Star Trek's rules for interacting with aliens, except the doctor's aliens are patients. In protecting themselves from information overload, they have cribb sheets. Diagnostic cribb's are updated periodically. I know exactly which version of cribb sheets your outdated doctor is working from, give or take. You're not misinformed, he's working from twenty year old standards.

The fact of the matter is CF is believed to be extremely rare. It is officially an Orphan Disease and the reason doctors don't have a knowledge of CF is most will never see a CF patient. The few adult CF centers in the U.S. really underscores the expected rarity of adult CFers.

I mentioned that recent studies of idiopathic pancreatitis emergency room visits, tested patients for CF and found 170,000 of them. That's more than the estimated world population of known CF patients. I know that doesn't help with your confusion but I hope it explains how an intelligent, compassionate pulmonologist can be so confidentiality out of touch with the current status of CF.

That moving target defining CF is the result of being the first genetic human disease to have a genetic drug that corrects CF at the gene level. The genetic drug Kalydeco was the first, and in a colossal understatement, Forbes magazine called it the drug of 2012. For this geneticist, it was like the quiet early morning detonation of the first atomic bomb. The world changed in a millionth of a second in a way that nobody could predict. Genetic medicine has largely been devoted to diagnosis and trying to optimize the lives of those afflicted by a genetic disease. With the exception of CF, hand holding is the practical limit most genetic medicine.

To this end I'm as confused as you are as to why this CF specialist is not up to speed. Drug trials are in the final stages and the overwhelming rumors about them is a generally great outcome similar to the mutation specific Kalydeco already on the market. Until Kalydeco, genetic testing was a glorified novelty. The difference between a person's genetics and their CF presentation can be considerable.

I'm beginning to repeat stuff so enough said about the bad experience. Unless two CF mutations show up on the short test, your insurance should approve the full sequencing ordered by your (soon to be) new specialist. I'm assuming that you haven't been given an alternative diagnosis to explain your two sweat chloride tests. It's not rocket science. You easily could have CF and I promise that were you 59 months old, a CF diagnosis would have been made based upon your sweat test and a full genetic test would be on the order. A second opinion from a doctor who understands the merit of a full genetic test can easily justify it to insurance. It would be just like your current doctor moving forward with the full genetic testing, assuming he was operating in this century. Ambry Genetics has been a popular choice of companies to perform the test and they are in California. The short test already ordered is not expensive and the full sequence test has been dropping in price to the point where insurance usually doesn't balk at the cost.

As a fellow late diagnosed CFer, I occasionally wonder what my doctors prior to my diagnosis might think, realizing that they saw me sometimes for decades and they misdiagnosed me. This CF specialist is potentially dangerous due to his ignorance and I hope you complain to CFF.org because they accredited him or the center. I am serious, register a complaint. By their own admission they're hustling to set up adult CF centers. If you weren't advocating for yourself, and many can't, you'd probably be buying whatever he's selling.

Keep your chin up and feel confident that seeing another doctor is the correct decision. Use those two positive sweat tests.

LL

 

[JustaCFmom]

I just wanted to add that I tested positive 2 times with the sweat test, but I don't have a load of symptoms & I do have hypothyroidism, which can throw the test off. I am a carrier too. Stranger than that, is my little daughter, who is NOT a carrier after double checking her genetics, testing positive on HER sweat test. Obviously, there is still a lot more to learn in this area. So, you want to be as thorough as you can be and hope you get the correct diagnosis!

If it is CF, the treatments are remarkable in how much they can improve your quality of life! My daughter with the CF went from 75% FEV1 to over 100% [that is really a percentile]. Just as an aside, our family doctor asked why we were doing a sweat test for her because "that is for CF". He has learned a lot from us! I will mention she had *no* significant history of much of anything until she just started coughing, non-stop, before her 14th birthday. We were fortunate to find a cluey doctor who sent us for the sweat test. [We went to him for a 2nd opinion after seeing a pediatric pulmonologist for close to a year, who runs a CF clinic. He was treating her for asthma, but none of the medicines were helping, thank G-d because we got our diagnosis relatively quickly!! ]

PS They all have FEV1 results over 100%. The 23 yr old loves running & cycling and his functions are over 120%. And, they all have bronchiectasis...

 

[madmax33]

Thank you for the reply's again. Not been feeling real good and depressed over this whole mess. Just been dealing with incompetent Drs for the past 14 yrs and ignorance over my whole health so it has got the best of me . I just don't get it. But I am going to go for Stanford at this point. They seemed quite interested in seeing me. I just got through today faxing many records down there to them. IT is quite a drive and hard for me, as my daughter will be taking me. Not easy and quite hard for her to. I just hope they go for the whole genetic test and don't mess around with a little here and a little there. I am just to sick. My daughter has a heart problem and also kids.
I am tired of messing around and want the best test done and the best Dr who will take the time and thoroughly look at my history. The last I spoke with the nurse or the coordinator at Stanford, she also said they may want you to come here for a sweat test first, before the genetic test as sometimes people over 50 they want you to take salt out of your diet for 3 days prior? ( sorry need to clarify, as I am not sure if she said sweat, and sodium or just sodium?) Now I don't remember but I am not sure what either difference it would make, if it does, you should be told this the first time.

Boy I hope she is wrong. Enough is enough. If this is such a priority, why would not every CF center do this? I am worn out and it is hard to travel as it is. None of what I keep being told makes any sense to me at all. Do it right the first time! I already have two positives and I feel with my history, lets not mess around here.
It is basically a hardship in every way, expense wise, my daughter the only one that can bring me , we would have to stay at least a night down there, so you have food, gas, etc. Just not feeling like I will ever get a Dr to get to the bottom of my health issues. Maybe this is something they do, for a first sweat test there, if that is where someone goes? I hope so. You know I have also read many post on here, and some where people have suggested to some with board line sweat and symptom's of there children ,(which cant get a diagnose) to put salt in the bottle before the next sweat test??? So I wondered about that, thinking why would you do that? And then again wondering, if that affects the test, they would certainly tell you this? I figured maybe that had something to do with how you body sweat's the salt in it out, that a normal person that would not happen to? I found that strange and almost like cheating the test? But this is all new to me.
Anyone else have a sweat test, and told to take salt out of your diet 3 days prior? I Feel I would have a high sweat test regardless, let alone with my history but the fact any time I have sweat, and (now I don't) My sweat has tasted like pure salt! (but then I don't know if this could affect the test, and give you a low sweat even if you have CF?) I also was waiting for this CF Dr to blame my hypo thyroid. Which he said that is probably what it was. But my take on this is, first with these other disease's and if someone has CF, I would think it is a course of elimination? Correct. Only would make sense if someone has a thyroid way out of wack and also no CF symptom's. If your thyroid is under control I would think then It will not affect the sweat test? So this is something that is interesting to me. With these other rare disease's I would think they would have to diagnose, treat and then check sweat again. who says you can't have both or multiply? Anything I have read about the fact of having other rare disease's s stated they are pretty easy to tell the difference in a CF diagnose. Also I was sure I have read, would not be a High Positive sweat either. The Dr I was seeing was really not going any future at all. Just decided to do the mapping test as a favor for me to ease my mind. He did agree that having two high sweat test was very rare. Also did acknowledge I have pancreatic problems.

So yes I was just going to be left with two high sweat test and of course where I live, my PCP who is a internist does not seem to be in the least bit interested in the fact that these where high!! And there are no other options where I live. Hugs to all . Let you know when I get some positive information when I feel like I am moving in the right direction.