Looking for others that Had a High Sweat And DID not get a CF Diagnoise?

JustaCFmom

New member
Hi Madmax

I actually have a very large family, so 3 kids have CF, and the rest are either carriers or "normal". The CF kids have the same mutations because they have the same father. They all have lung functions over 100% pred (which disqualified them from participating in the next PTC drug trial for Atalaren). My daughter got diagnosed at 15 after non-stop coughing for a year & no relief from asthma medications. Then we screened the entire family so that my oldest son got his diagnosis at age 20. His lung functions are almost 130% pred. He is athletic and who knows if he would have ever received a CF diagnosis if not for his sister!

Yes, I am at least a carrier. I don't remember my numbers exactly, but they were well into the positive zone. As I said, I really have no symptoms, neither digestive nor respiratory. If I were to start experiencing any big problems, I will follow up on the full genetic screening. I don't live in the US, so it is not free. I have been taking thyroid medicine for years. My thyroid functions are OK on paper, but I do have bradycardia (slow heart beat) and I need to follow this up with an endocrinologist.

Your picture is very different & you need to really find some supernatural strength to advocate for yourself. :-( As you mentioned, just getting a simple sputum culture to find out what is growing in there! [They did that for me when I did all those tests]

Good luck in your quest for good treatment!
 
M

madmax33

Guest
Hi jshet. Well I hope your son is doing ok now. Must be so hard and worrisome for you! On top of he can not take the only medication. My prayers are with both of you and family. That is so cool, you are taken him to Disney World. When are you going? How much fun will that be . He sounds so innocent and what a joy to be around. Must be fun just to see the expression on his face when you bring him. What a love. Take lots of pictures!
I hope to get to UC Davis on Tuesday, get the blood drawn, sign what ever paper work I need to, and at least then will be getting the mapping done. I sure need to remember to make sure they do the other test, (for the pancreas) It is not included in the Mapping, so I want to make sure that gets done. I get so confused with all the test out there, which one to have, but from what I understand the mapping includes ALL of them. So puts me at a loss, what this other separate test is? But Heck, maybe it is included and the Dr don't know. We will see, but at least I am getting that done for now. Hugs


Hey madmax33. Things are ok. Still swelling, but it takes a while for blood to reabsorb. Not a whole lot we can do. The type of bleedng disorder he has, there is only one medication that can be used. Unfortunately, it does not work for him, so his only option is a blood transfusion if he looses too much blood, or if the bleedng is not clotting.
He has a great hemotologist, but treatments are limited. Atleast we will know what the issue is if he ever swells again.

been a rough couple years for him, but we have decided to take him back to Disney Workd this year. He loves it there, and loves toy story. To him the characters sre real. Its so magical for him. He is so excited, it gives him something to look forward too.

Please keed me updated with your continued quest for answers. Take care!
 
M

madmax33

Guest
Well you really have your hands full. Great the kids have great lung functions. I would have guessed you are a carrier, odd you had high sweat test, from what I have read on that one, carriers do not have positive sweat test. Also the bradycardia ? You know back in 2010, when I really went down hill, I had passed out 4 times and finally went to ER. I had a HR of 35, for over 10hrs and ended up with a pace maker? Always wondered if my thyroid would have been diagnosed proper if I would have ever needed it? I went for over a yr, walking around loosing weight, the major stomach problems, etc etc. I was been put a meds like a genni pig, where no one new what they where doing. The more thyroid meds they put me on, The higher the readings went! They said I had hypo but boy, seemed I had all the symptom's of Hyper. None of it made sense. I really think I was in a thyroid storm. My daughter thinks them messing with my thyroid, is what caused the problems with my heart and now on permanete thyroid meds? will never know. I just have had such bad experiences and the sicker I get, the more scarcer it gets. I did not know you where in the UK. To bad the mapping is not available there under the CF program. Great you have no symptoms' but yes you know what to look for so that is good. I hope to get the blood drawn this week, so I will get the mapping done. But yes you are right, my situation is a different one, and so strange why I am not diagnosed. I think regardless what happens there, I will have to find a way to get down to the other center, a lot farther, to get a complete work over. I defiantly need the spectrum done. Should have been being done , here where I live quite often with all the problems I have. The CF dr at this center already said to me, (if I have the milder form, or the different one?) The treatment would be the same as what I am getting here anyways? Which I take it as NONE!!!! So they are not interested, in what I have, my stomach issues, sinus, allergies, the lungs, Maybe diabetes. I need a over all Dr no matter what, as something is affecting all my organs, and I just can not keep going from dr to dr and have them pass the buck , where no one is looking at my overall health and making decisions. Just done not work, when a specialist is not paying attention, to treatments, medications, allergies and so forth. I would not be in the mess, if a Dr was trying to help me. Just cant do this anymore, the way it is going on. I feel a 100 yrs old, and like I need to just go to a old folks home. really, very serious that is what kind of shape I am in. Thank you for your support, really appreciate it. Well let you know when I get the results back and if I get some answers. Max


Hi Madmax

I actually have a very large family, so 3 kids have CF, and the rest are either carriers or "normal". The CF kids have the same mutations because they have the same father. They all have lung functions over 100% pred (which disqualified them from participating in the next PTC drug trial for Atalaren). My daughter got diagnosed at 15 after non-stop coughing for a year & no relief from asthma medications. Then we screened the entire family so that my oldest son got his diagnosis at age 20. His lung functions are almost 130% pred. He is athletic and who knows if he would have ever received a CF diagnosis if not for his sister!

Yes, I am at least a carrier. I don't remember my numbers exactly, but they were well into the positive zone. As I said, I really have no symptoms, neither digestive nor respiratory. If I were to start experiencing any big problems, I will follow up on the full genetic screening. I don't live in the US, so it is not free. I have been taking thyroid medicine for years. My thyroid functions are OK on paper, but I do have bradycardia (slow heart beat) and I need to follow this up with an endocrinologist.

Your picture is very different & you need to really find some supernatural strength to advocate for yourself. :-( As you mentioned, just getting a simple sputum culture to find out what is growing in there! [They did that for me when I did all those tests]

Good luck in your quest for good treatment!
 
M

madmax33

Guest
Hi Again to all. Just a Update . I finally got down to Sacramento, and got my Blood Drawn for the Genetic Mapping!! So now we will see. Dr is also running the Genetic Pancreatitis Panel. So this is great news. One other, which I did not understand at all. (IT is called a TRYPSIN-LIKE IMMUNREACTIVITY) Any one out there know about this test? I asked the nurse the other day, she came back telling me it was a genetic test. I do think she got it mixed up from the other Pancreatitis Test, as that is a Genetic test. When I researched this last one, (I keep finding it under VETS!!!) Anyways, was concerned about that one, as it seems to check for enzymes secretions, if you have a problem. I wondered when I found that info, it concerned me as I am already on Enzymes and did not know if this could screw up the test? Seems like a test you would take, prior to enzymes, Could not find much though so was wondering what it was. Also went a seen a New Cardio, Dr even though the appointment was short, She said she knows what is wrong with me. She spent quite a bit of time going through my records prior to appointment. So I am so grateful for that. I have not got a answer to my Cardiac issues for the past almost 20 yrs!! She mentioned a few things to me, and wants to start treating me, but also said she wanted to spend more time going through my records, (Also handed her over a 100 More and Disc) to make sure there is nothing that requires immediate attention or surgery for now. She also talked about doing a other angio, a right and left one. I have wondered why with all my test results and problems I have, why a right cath has not been done. So we seemed to be on the same page, and answers more of what I have suspected for yrs. Finally a DR who cares and willing to address the issues! I go back in a few months and will find out what she is referring to, answers to what is really wrong with my heart and what treatment she wants me on. I would have to say, nothing is worse then been sick and having a chronic illness, No matter what that illness is, then to not be acknowledged, turned away, dismissed and treated as if it is all in your head!! No one should ever have to go through that. I feel finally there is hope! Hope everyone is staying warm, staying as healthy as possible during these winter months.
 
M

madmax33

Guest
Hi JustaCFmom , note for you at the bottom

JustaCFmom. Hi this is max. Hope you can see this. I was thinking about you and your son. How is he doing? I also was researching the web the other day regarding genetic studies and came across the mapping test for CF. I thought of you again. I did not save it and can research it again, but this was for the UK. I am not sure but think they also have started a study, Same as in the states, for the Free Mapping program. PM , if you would like me to research it again as you did state the testing is not free there. I hope I am right, but I did see it was in the UK. Hope all is good with you and family . Here is the link I found for the UK, not sure if this is the same as the research One I came upon the other day. Hope I can put this in here. http://www.genotypematters.org/ Prayers
 

Gammaw

Super Moderator
Madmax, I am also having huge problems understanding why two elevated sweat tests did not result in a CF diagnosis - particularly given all your additional problems. Although the sweat test is the gold standard it's not apparently an automatic diagnosis - but close! Did the CF Center tell you that you did not have CF or did your referring doc or insurance simply get in the way? I'm sorry if I'm missing that info. I see you're doing gene mapping but here's what I suggest. I would call the Foundation's Patient Assistance Center. Here's a link http://www.cff.org/LivingWithCF/AssistanceResources/ I believe they will be able to at least direct you to an appropriate resource. I am so sorry you are having such a hard time getting to a CF Center for appropriate treatment. But you're obviously amazingly persistent and determined. Keep going. I really believe you can get this done. Consider researching and asking for a different doc at the CF Center when you get a referral!
 
M

madmax33

Guest
Thank you for the Response Gammaw

Hi Gammaw. Yes it is just beyond me at this point? I have posted many threads, (Very long) Searching for help, what others have gone through, researching and making many calls. I don't get it. There are many factors going on here, First the center I went to, the closes and it is a hardship for me to even get there, Have never diagnosed a older adult. The CF Doctor, even with the first sweat test I had here, at Mercy (which led me to the CF Center) that DR looked at me and stated the survival age is 36! Said to me, Very unlikely, I don't think you have it! Then there sweat, it came out high. Talked to the Dr on the phone, He still did not think I have it. We did a 102 ambry genetics, so he then ruled it ouit. (he also said, I would have to have a least one of those commons to have a diagnose of CF!) My FEV is good, even though the FEV 25-75% is declined, and also my DLCO??(that is only 63%) I don't even have a answer yet as to why? So I think he is just looking at my lung functions. I had a CT he looked at also, and said I do not have the typical CF lungs. (so I think most is based on the lungs) But I also have mucus plugs in my lungs, had pleurisy, and ammonia, and stated partial collapsed lungs, also a plural effusion?? The Pulmonary Dr I seen here, waiting three months, his only comment to all of this was No you don't, no you don't. He also said the DLCO was not bad? He did not even review the Disc at all? This has been going on for a year now, and I am still sick. Coughing up yuk, all the time. He also said to me during the visit, He did not think I had asthma? Ok I have had this since child hood. My PFT, show improvement when I use the inhaler? Go figure this one. This is something I know I have. I must just be crazy, without anything wrong with me , and all these test and symptom's are in my head??? I don't think this Dr is looking at Not only what I do have, But I am not getting the proper care at all, for all the things I do have. I have been dealing with Heart issues since the end of 90's, and have no answers for that, and have declined that way, now have a pace maker. If you asked the Drs where I live, They act like I don't have anything wrong? But test show different. Thank God is all I can say , with the new woman Cardio I found in Sacramento. I don't know what to do, Drs here are not addressing it, I also am allergic to so many antibiotics, so that scares me, and seems I have something I have had at least since 2010, that no antibiotic touches. I also have never been checked for the bacteria's, which CF patients have. Even though I have suffered for yrs with chronic infections most of the time, I just live with. It is a endless rut. And yes My insurance is a nightmare, does not helpful at all. I have blamed that for a long time on the care I get in the area I live also. I would not think this would be a issue at a CF center. As now my insurance just got 10X Worse in December. So that has caused a problem. If he would have diagnosed me, I would have better insurance. He even asked me why I would want a diagnose? Said it is a horrible disease he would not wish on anyone. So I guess I am in a night mare of always fighting the medical community, it seems where I live. So tired and feed up with it. Any one knows when they are sick, chronic and don't have answers, no matter what they have, they NEED a diagnose. First for insurance reasons, for peace of mind, and most of all, to get the proper treatment! No body wants a diseases. Ok at that point this very nice Dr at the CF center spent 3 hrs with me . As I am trying to convince him why I think I have it, how many symptom's I have had all my life and so forth. So "present" we are at , he offered to do this mapping and said to me he thinks nothing will show, and will that satisfy me? Because then we have gone as far as we can, and then it is a done deal!! I also am not sure, if one or two shows up, if even then if he would diagnose me anyways. Just don't know, but went ahead with this as he offered to do it, life is getting really hard for me as it is. He also did say to me, he might learn something from me and look back , 10 yrs from now, and say, I remember that woman who came in here. So he is open and that is good. I just don't think they are versed at all in diagnosing older adults. I just did not need any fight at this point in my life, I needed the aggressive Dr, one who took the horn by the balls, trying to get to the bottom on this. I am very weak, chronically ill, and been fighting a fight of my life for the last 14+ yrs as it is. It has taken every thing out of me. This center is a very small center. I think there are only TWO of the CF certified Drs at that center. I asked him how many patients he has over 40 and he said 0. My own Dr here, is laughing at me basically, not treating anything. (I am in a nightmare with overall care) He has no interest in me at all. I just asked him, if he thinks I do not have it, since there are only a few very rare disease, Why is he not trying to out role those? Well, I made him mad, he said what is the CF Center doing? ask them. So I just am not sure what to do anymore. I am at a loss. I also have Hashimotos, but under control. I need checked for the Diabetes, (no one has been willing to give me the fasting glucose test) I also need my sinus's addressed, which is indicated in records, CTs, and also a sleep study. I also talked with my gastro, He did surgery on me back in 2010, and I have been having more problems this last yr again. He wants me to come in and see him,, and suggested surgery, cutting nerves and so forth? He said it does not surprise him that I have CF. Ok . But now I am at a loss, as I would prefer to know if I have it, and if that would be the treatment for my stomach problems, pancreatis, etc.? Or would the proper medications work?? I use albuterol, for my asthma, I have the Nebulizer I use daily. This is what I have for my chronic asthma. Who knows, maybe something will come out of this. IF I am there first older patient, maybe things will be different when I go down there again. I don't know. Standford wants to see me. They told me to go ahead with the Mapping and then get in touch with them. Problem is I cant even imagine how I can get there. Also the insurance caused a problem with that. Until I get a diagnose, and get the insurance changed, then That is the only way I could start to figure out , how to travel to Standford. I want to move, really need to move. That is a pipe dream at this point, and only tell, I get some help, know what I have, so I can figure the best center to go to, will that even be a though. I have been reading for Yrs. and hitting on CF for some time with my symptom's. reading many stories from the top CF Centers, I have no doubt that is what I have. For some reason, I just don't have my lungs affected. I Also read from the Jewish hospital, the Dr at that center stated it is so important to Diagnose and treat a older Adult, even though referred to as a milder form, (Trying to figure out why older adults have lived longer with it, and diagnosed later in life) He stated that there lung functions can decline real quick also, so treatment and staying on top of it is very important. CF is CF. Thank you for the link and your positive words and support. Yes I have talked with the Assistance line many times. They helped me with the mapping test, and to get the blood drawn at the same time, working with the Center for me.




Madmax, I am also having huge problems understanding why two elevated sweat tests did not result in a CF diagnosis - particularly given all your additional problems. Although the sweat test is the gold standard it's not apparently an automatic diagnosis - but close! Did the CF Center tell you that you did not have CF or did your referring doc or insurance simply get in the way? I'm sorry if I'm missing that info. I see you're doing gene mapping but here's what I suggest. I would call the Foundation's Patient Assistance Center. Here's a link http://www.cff.org/LivingWithCF/AssistanceResources/ I believe they will be able to at least direct you to an appropriate resource. I am so sorry you are having such a hard time getting to a CF Center for appropriate treatment. But you're obviously amazingly persistent and determined. Keep going. I really believe you can get this done. Consider researching and asking for a different doc at the CF Center when you get a referral!
 
M

madmax33

Guest
Gammaw, As you see my very long post Again above!! Sweat test is the golden standard, and is suppose to be the diagnose for CF! Mine in the high, (POSITIVE RESULT) should be no question at all. Along with the symptom's should just , Justify the CF Diagnose. Also figure with the genetic testing going on, Patients get a diagnose with the Sweat test is a positive, even when they have not found there mutation yet? Might have just one, or none they have found yet. So none of it makes sense. Also genetic testing is now important for a cure, and also for a patient to know what mutation they have for treatment. Just read this! Use to be if someone has symptoms, and board line, then they could do the genetics if it was in question? I feel if two Drs are going to say I do not have this, Tell me why I have a high sweat test (2) and tell me what I do have. So see, all my symptom's are pointing to CF, not any of the other disease.



Hi Gammaw. Yes it is just beyond me at this point? I have posted many threads, (Very long) Searching for help, what others have gone through, researching and making many calls. I don't get it. There are many factors going on here, First the center I went to, the closes and it is a hardship for me to even get there, Have never diagnosed a older adult. The CF Doctor, even with the first sweat test I had here, at Mercy (which led me to the CF Center) that DR looked at me and stated the survival age is 36! Said to me, Very unlikely, I don't think you have it! Then there sweat, it came out high. Talked to the Dr on the phone, He still did not think I have it. We did a 102 ambry genetics, so he then ruled it ouit. (he also said, I would have to have a least one of those commons to have a diagnose of CF!) My FEV is good, even though the FEV 25-75% is declined, and also my DLCO??(that is only 63%) I don't even have a answer yet as to why? So I think he is just looking at my lung functions. I had a CT he looked at also, and said I do not have the typical CF lungs. (so I think most is based on the lungs) But I also have mucus plugs in my lungs, had pleurisy, and ammonia, and stated partial collapsed lungs, also a plural effusion?? The Pulmonary Dr I seen here, waiting three months, his only comment to all of this was No you don't, no you don't. He also said the DLCO was not bad? He did not even review the Disc at all? This has been going on for a year now, and I am still sick. Coughing up yuk, all the time. He also said to me during the visit, He did not think I had asthma? Ok I have had this since child hood. My PFT, show improvement when I use the inhaler? Go figure this one. This is something I know I have. I must just be crazy, without anything wrong with me , and all these test and symptom's are in my head??? I don't think this Dr is looking at Not only what I do have, But I am not getting the proper care at all, for all the things I do have. I have been dealing with Heart issues since the end of 90's, and have no answers for that, and have declined that way, now have a pace maker. If you asked the Drs where I live, They act like I don't have anything wrong? But test show different. Thank God is all I can say , with the new woman Cardio I found in Sacramento. I don't know what to do, Drs here are not addressing it, I also am allergic to so many antibiotics, so that scares me, and seems I have something I have had at least since 2010, that no antibiotic touches. I also have never been checked for the bacteria's, which CF patients have. Even though I have suffered for yrs with chronic infections most of the time, I just live with. It is a endless rut. And yes My insurance is a nightmare, does not helpful at all. I have blamed that for a long time on the care I get in the area I live also. I would not think this would be a issue at a CF center. As now my insurance just got 10X Worse in December. So that has caused a problem. If he would have diagnosed me, I would have better insurance. He even asked me why I would want a diagnose? Said it is a horrible disease he would not wish on anyone. So I guess I am in a night mare of always fighting the medical community, it seems where I live. So tired and feed up with it. Any one knows when they are sick, chronic and don't have answers, no matter what they have, they NEED a diagnose. First for insurance reasons, for peace of mind, and most of all, to get the proper treatment! No body wants a diseases. Ok at that point this very nice Dr at the CF center spent 3 hrs with me . As I am trying to convince him why I think I have it, how many symptom's I have had all my life and so forth. So "present" we are at , he offered to do this mapping and said to me he thinks nothing will show, and will that satisfy me? Because then we have gone as far as we can, and then it is a done deal!! I also am not sure, if one or two shows up, if even then if he would diagnose me anyways. Just don't know, but went ahead with this as he offered to do it, life is getting really hard for me as it is. He also did say to me, he might learn something from me and look back , 10 yrs from now, and say, I remember that woman who came in here. So he is open and that is good. I just don't think they are versed at all in diagnosing older adults. I just did not need any fight at this point in my life, I needed the aggressive Dr, one who took the horn by the balls, trying to get to the bottom on this. I am very weak, chronically ill, and been fighting a fight of my life for the last 14+ yrs as it is. It has taken every thing out of me. This center is a very small center. I think there are only TWO of the CF certified Drs at that center. I asked him how many patients he has over 40 and he said 0. My own Dr here, is laughing at me basically, not treating anything. (I am in a nightmare with overall care) He has no interest in me at all. I just asked him, if he thinks I do not have it, since there are only a few very rare disease, Why is he not trying to out role those? Well, I made him mad, he said what is the CF Center doing? ask them. So I just am not sure what to do anymore. I am at a loss. I also have Hashimotos, but under control. I need checked for the Diabetes, (no one has been willing to give me the fasting glucose test) I also need my sinus's addressed, which is indicated in records, CTs, and also a sleep study. I also talked with my gastro, He did surgery on me back in 2010, and I have been having more problems this last yr again. He wants me to come in and see him,, and suggested surgery, cutting nerves and so forth? He said it does not surprise him that I have CF. Ok . But now I am at a loss, as I would prefer to know if I have it, and if that would be the treatment for my stomach problems, pancreatis, etc.? Or would the proper medications work?? I use albuterol, for my asthma, I have the Nebulizer I use daily. This is what I have for my chronic asthma. Who knows, maybe something will come out of this. IF I am there first older patient, maybe things will be different when I go down there again. I don't know. Standford wants to see me. They told me to go ahead with the Mapping and then get in touch with them. Problem is I cant even imagine how I can get there. Also the insurance caused a problem with that. Until I get a diagnose, and get the insurance changed, then That is the only way I could start to figure out , how to travel to Standford. I want to move, really need to move. That is a pipe dream at this point, and only tell, I get some help, know what I have, so I can figure the best center to go to, will that even be a though. I have been reading for Yrs. and hitting on CF for some time with my symptom's. reading many stories from the top CF Centers, I have no doubt that is what I have. For some reason, I just don't have my lungs affected. I Also read from the Jewish hospital, the Dr at that center stated it is so important to Diagnose and treat a older Adult, even though referred to as a milder form, (Trying to figure out why older adults have lived longer with it, and diagnosed later in life) He stated that there lung functions can decline real quick also, so treatment and staying on top of it is very important. CF is CF. Thank you for the link and your positive words and support. Yes I have talked with the Assistance line many times. They helped me with the mapping test, and to get the blood drawn at the same time, working with the Center for me.
 

Gammaw

Super Moderator
MadMax - congratulations on finding your way to the Patient Assistance Center and getting to Sacramento to get your genetic testing done. We look forward to hearing the results. Hopefully that will get you some answers.

I know travel is difficult for you, but if you go to a CF Center for any further evaluation or treatment, I strongly suggest you at least initially use a CF Center different from the one you initially visited, especially since you do not have confidence in them. I am not attempting to impune them in any way. We all have personal preferences and get along better with specific doctors and their approaches. Perhaps you could let us know the more precise area in which you live and let others give you information on others Centers in your region that you might find more helpful or adult oriented.

If Sacramento is the next closest Center and you are happy with them, then it might be best to stay with them. Most Center visits occur around three months apart when you're stable, so it might be easier to keep up with your visits that way, despite the distance. In addition, you could ask the long distance center for a recommendation or referral to a regular physician (pulmonologist or internal medicine specialist, even a family practitioner) in your area to communicate with them and handle your treatment to the extent they are able by telephone. For example, when my little guy is having a problem, I often call my Center first and if they need an exam pronto or other information, I can take him locally to his pediatrician and have them communicate with one another regarding findings and treatment. We still go to the CF Center for regular exams and testing. But it cuts down on a lot of travel!
 
M

madmax33

Guest
Hi Gammaw. Thank you again for your support. The Sacramento Center is where I am getting the Mapping testing done. My situation is way more complicated, then just find a other doctor, or go to a other center. My health is declined so bad, and now a major insurance issue. Not only am I trying to get diagnosed, things changed in Dec. Any and all the specialty Ok, this is something else, I just see on my records. I am seeing are not in my area. (Northern CA) Redding area. Now I need a pre approval for any Dr out of my network. Ok. I am Tehama County. Only a few medical centers. Seems I am in a never ended battle over all of this mess.. So the Cardio, the CF center, Seeing a arrhythmia Cardio dr , the gastro, are all pre approved Dr's!! As far as I know, a approval is for a few appointments, 6 months or? Your PCP, has to be the one to refer you also. So I just landed in a nightmare. If things where smooth, the travel has been a issue, expense and all of it. I just keep going back words in everyway. Get me going and I can go on and on. the network I am in, there are only 6 internist. Most are not taken any new patients, including the pcp or there is a very long wait. Ok. I have to stay in the network unless I get the referral. SO imagine with this crap, Like the pulmonist here, Which is booked out 6 months, the one I had to see, who told me nothing. Puts down everything is fine, and forget the test from the ER he did not even look at. SO then do you think in this small rural town , the PCP, is going to give me a referral , out of the network? When he looks at records and the one I just seen, that says She IS FINE!! Call it a medical nightmare,, Call it small town corruption, I just don't have other options. I had to basically get into the UC Davis center ON MY OWN< with faxing my own records, and doing my own referral for a month. even when My Dr had the positive sweat test in his hands, and told his nurse to call me, and say, I DONT HAVE CF!! No matter what , and I have lived here for 24 yrs and sorry I have every seen this place. I need to find a way to move. that is the only way I have a chance at any kind of good overall medical care. My hopes are still out, for UC Davis , maybe that Dr will have change of heart, and I can start getting care down there. that is where the New Heart dr is. She is willing to help me, said on the Heart end she knows what is wrong with me, etc. But still when I hardly even drive a 15 trip to town, I cant drive there myself. I was hoping finally if I would have got the diagnose of the CF, I have suspected for yrs, that Dr could see me at a center, and I would get overall care. At least what affects the CF? I need a multi- system, type Dr no matter what. This is not working for me, diet, medications, symptom's, etc, when one dr does not talk with the other! I have been on my own now for yrs, and it is scary. this is why I became such a activist for myself, and getting records, speaking up, researching, Calling all over, trying to find help , begging to get into Drs out of my area, or I think I might be dead. I have been on the phone also with the new insurance, and they are suppose to get me a Nurse coordinator to help me. they are aware that I am in a very rural area, and not many Drs, and they also said they know this would not work for someone chronically ill. So that is a plus. I am just sick of fighting. You know when you are sick , it is hard enough and by yourself. You should not have to fight like this at all. I have been feeling now since 2010, I wish they would just admit me in the hospital, and figure this all out, and some Dr help me! Maybe the heart Dr will be my prayers to figuring out why I am so SOB, and with Dyspnea. it is ridiculous. Under this Health care program also, you know there is one Cardio Dr under Tehama county and the wait is over a year!! I have a pace maker and have had major trips to the Er by ambulance, on going chest pain ,and other heart problems. Bottom line, I am in a horrible place for care, and not good insurance. My husband and I moved here 24 yrs ago. (He left in 2000) We ran a auto mechanic business, And I always wondered why middle aged and elder people always said, Don't let the Drs touch you around here, they all went to Sacramento or San Francisco! they also had good insurance and or money. This is a depressed area, drug infested, un educated pit of CA! I can only take one day at a time. I feel like this place has taken every thing out of me. Like no fight left anymore. You can only take so much. I have known and watched many people from there mid 30's to 60's die here. TO many. I have tried to figure this out for yrs. So have my kids. I have wondered if something is in the water or what. I know a lot of it is a lack of care, period. I came from the bay area up here. Looking for a more peaceful life. It has hurt me in this town, asking Drs anything about my condition. I have said, your treated as if it is not your right to know anything. they don't listen, they don't talk to each other, they wont speculate on anything out of there expertise, they do not tell you about blood test elevated, condition's you have, mistakes in the records, I don't get it. Just need to find a way to move out of here. Sorry to vent, but It is so hard to explain to anyone, when things are just impossible . I don't have much options but am trying.. I have had enough of the medical up in this town, so you can understand as to why, It is so hard when you fight to get as far as you have for a diagnose, and get out of here, to why I am so upset about the Sacramento Center! Not what I expected. A test is a test, if a Dr wants to say to me, Unlikely, or I don't think so, OK then, when I have multitude of symptom's, and a positive test, tell me what I do have?? Or get on the Phone with the Other PCP, someone figure out, either rule in other disease or out. Just don't leave me hanging. AGAIN, this had been the way, up here where I live for yrs.. they are always passing the buck! Could all be about the insurance. Money is money, and if a Dr does not get paid enough, there are many other patients out there. For a CF diagnose, I really really expected a lot more from a Center then what happened. If I did not pursue it with this Dr, I just would be no where. My Dr has no interest in running any other test, or finding out why it came out high. I got the Referral also myself in Sac. I happened to get these referral also prior to the Insurance change in December or I would not be getting in to any of these drs. My Dr has said, there is nothing wrong with your heart. I had a Clear Left cath. Ok. Did not see it. told it was clear. (There where also very bad reviews on the Dr who did my cath) That concerns me, it all does, and I have a right to be concerned if you even knew a part of what I have gone through up here and over my health. I have a lot of conditions listed related to my heart. For a Dr to say this to you, when you are going by ambulance, have a pace maker, valve problems, A hole in my heart, Prior MI, CAD, and I also seen a a eco back in 2011, refers to Cardiomyopathy, and enlarged left and right atrium? Ok, this is something else, I see on my records. I have diastolic dysfunction. I only reach 63% of predicted HR , with the stress test. (I have read that makes it useless) I show a defect n my heart. (Prior MI) I have high Arterial Heart rates, SVT's, and Rare PVC's. I have been dealing with heart palpations and racing heart for over the last year. when I ask, any of them up here , It is minuet, Don't think that is what is causing my symptom's, etc etc. EKG'S can read , Prior MI, everyone's does, Part of the aging process. this is the kind of answers I get when I ask. So sorry to go on here, but see what I am dealing with. A nightmare. Nothing would change up here, Unless I had money and could go to a whole other group of Drs. But if I had money, I would be the heck out of here for sure. I am hoping to live long enough, to write a book. This is a issue that needs addressed, and hopefully that could change someone else's life. By the way, Yes Standford is the Center which is willing to see me. They deal in a lot of Adults. In fact I found, most of the people from Northern CA, (up where I am at) Travel to that center. But not only trying to get there, the insurance change in DEC, changed that. So I have to wait. . It will take work now and something done with this Insurance, working with them to figure out how to get there. Like you said, at a center , it is every three months or travel. I am traveling out of here now for all the specialty Dr's, for appointments. Even where I live, My Dr, it is a 50 mile round trip for me, and that is because I am in the country . The Cardio issue is very important to me, and as you know even with this new Dr, Wanting to treat me , which is great, I can finally get answers. But does not help if you have a emergency or hospitalized, and don't have your own Cardio dr. Really, what has gone on with me here, Would not want most of them to touch me. That is initially what happened back in late 90's, could not get a Cardio Dr to help me here, and traveled to Sacramento. He put me on meds, right away when I Faxed him my Stress test. He diagnosed me with premetal angina. I was on heart meds for 6 yrs. Now that diagnose is totally forgotten, and no one will talk about it? That Cardio, felt I could continue care where I live and needed a Dr where I live. So there you go. Hugs
 
E

evarestos

Guest
Hello everybody
My story starts some months ago when i figured out that i have finger clubbing.
Did CT lung scan ,spirometry ,colonoscopy ,gas blood test blah blah blah.
Everything came out normal without any underlying cause of my finger clubbing.While discussing with my pulmonologist she didnt exclude the CF case(even very unlikely cause i am 23)so she proposed me to do a DNA test.In the beggining i didnt think at all of doing it because it was very expensive, but i decided to do the sweat test (very cheap and more practical).The sweat test came out bordeline(50)!the doctors started suspecting atypical CF saying that i might be infertile ,that those people have mild symptoms, full life expectancy etc,it was a huge shock for me(not cause i might being infertile :p ),immediatelly i ordered a full DNA analysis.
After a month the DNA analysis result was negative for pathological mutations but 3 benign variations (T854T,E528E,4521G/A) were found.
The doctors exclude the case of CF but told me that i have to repeat the sweat test on a mounth.
The spermiogram i did ,came out normal as well.
I dont know what to think or what to do,this shock and all of those months of waiting really ruined my life,i became deppresed, esostrephic and hypohondriac.
I have some very very mild GI issues and i relate them to CF ,living with the fear of it.
Now i started having problems with my girlfriend and i stopped studying for my degree.
Sometimes i think that if i would have done the DNA analysis from the beggining now i wouldnt had become like this.
 
Evarestos: So I guess you do not have CF? That is a relief not to have to deal with this disease. I am a believer that things happen in our lives and people are in our lives for a reason. I do not know the reason anyone would have CF and its complications but I believe there is a reason. I also understand your feelings. CF creates a huge fear for the person who has it and for the people who love that person more than anything and the fear grows sometimes with time and complications. I have had a hard time with this disease too. I am sure at one point I suffered from Post Traumatic Stress Syndrome and possibly still do. For people with CF or no CF talking to someone else about it can really help you see the "light" and deal with it. There is a "light" and a better day even for people who are in end-stages of CF. I believe prayer helps tremendously too. Even if you had CF you would have to learn how to deal with it so you can push forward and live your life. People with CF do push forward and live complete and full and happy lives for the most part. When real complications from this disease start to occur they just have to push harder and fight the disease harder and hopefully they have the love and help from a family member or a close friend. I believe all things happen for a reason even if we do not understand what that is yet. Maybe you would benefit from talking to someone like a close friend or even a professional to help you. These people may or may not be directly in your life but could understand your life and help you through it.
 
E

evarestos

Guest
Hello, i was out for some months.Message to everybody want to talk/advice me etc.
Unfortunately i am depressed and not on a good mood.After 9 doctors declined the possibility of having CF and after had a second sweat test (negative 36) i am still struggling with the idea of it, mostly because i have gut symptoms (for 10 months now it seems that i have steatorrhea) ,my GI diagnosed me with IBS but i am not sure since i have not gross diarrhea or constipation but my bowels are bulky and maladorous after fatty meals. Serum amylase/lipase test and ultrasound were ok but i read on the internet that even with normal values of those tests EPI is not excluded.I didnt lost any weight or have any other problems except this.
My life became a mess i am a totally different person since all of this started ,not so much because i am afraid of having CF but because i dont know have the answers i want ,like why i had bordeline sweat test?what causes my gut problems?Can somebody obtain EPI without pancreatitis and no evidence from tests on his 24yr?
I appreciate everybody who is going to talk to me :)
 

Printer

Active member
evarestos:

Having had symptoms (knowingly) since age 3, it took Doctors 47 years to dx me with CF. In 1960 there were 250 known mutations, today there almost 2000 known mutations.
 

mkpr13

New member
Hi evarestos,

Sorry to hear about all that you are going through. I was diagnosed with pancreatitis 1 1/2 years ago. The doctors thought it could be caused from cystic fibrosis. I did all of the DNA tests and they came back negative. Now the doctors will NOT do the sweat test, and I read that the sweat test is the gold standard for CF since there could be mutations that have not been identified. So as far as what test to do first, it does not really matter. It all leaves questions in your mind.

My pancreatitis was diagnosed with an endoscopic ultrasound. It did not show up on an ultrasound, MRI, CT scan and my amalyse and lipase were normal. It can be missed by the doctors with the normal tests. I went to a university that had a pancreas, biliary clinic. They gave orders for eight sets of blood tests so that I could go in to get tested during an attack which indicate that my lipase does spike during an attack. The sad part is that even though I have been diagnosed with chronic pancreatitis, the doctors do not seem concerned since they don't know what is causing it. I do a lot of research on my own and do my best to eat healthy, exercise, get adequate sleep so that I can maintain a high quality of life.

I do have two teenage sons and many people on this site have children so I don't think infertility is a direct cause of CF/GI issues.

My suggestion is to work with a doctor to treat the symptoms so that you can live your life to the fullest. Talk to a professional if you are depressed. They should be able to help you sort through all of these feelings you are having. There are many uncertainties in life, and we can learn to live around them.

Best wishes to you.
Melissa
 
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