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View Full Version : Hi All. Throwing this out there to see if anyone can help. Still no CF diagnoise.



madmax33
05-30-2015, 03:47 PM
Hi Everyone. Well, I had a ambry Pancreatitis Genetic panel done. Any one else, with pancritis problems, Cf etc, which know of theses mutations. G576A, (likely pathogenic) And R668C. (Variant of unknown Significance) Got as far as a CRMS Diagnose. Told neither of these are CF causing. I don't get this as I am still in limbo, The two high sweat test> 84, and 90. To make this short as I always write a book here, I do have good FVC. Low DLCO. (which I think is heart related) Chronic Asthma, Chronic Sinusitis, Allergies, Chronic Bronchitis, Failure to thrive, malnusorption disorder (most all my life) Chronic Pancritis, Osteoporosis, at early 40s. Constant on going infections, (cant seem to kick) Between the sinus and lung issues , the infections are chronic. So far just live with it. Gallbladder removed at 29 ys. IBS, IBD, Gastroritis, Colitis, Name any thing of the stomach I have been diagnosed. Many bouts of Pneumonia, recently last yr by ct. with Atelectasis and small plural effusion. Mucus Plugs. COPD. Any advice would be appreciated. Also was told from the Clinic I have gone to . The full genetic is back, and showed Nothing. This is hard to believe. Not quite sure of this though until I see it as I did speak with a Dr back at John Hopkins in the mapping, and I took it that this can take a very long time, and they will keep going with it. He also said I may have a very rare mutation's? or one that just has not been found yet. But still sitting with a diagnose of this CRMS, What I have read about this diagnose as ( atypical) no high sweat or symptoms for CF. Also I have read some post about the dispute over this type of Diagnose. Just want to say, for me, it means at this point, No CF symptoms. Insurance and treatment are a priority and if I have it, this is a major factor for many reasons. Also The Dr at the Center, is Keeping me at this, Only for the pancreatic problem, (and does not know the cause of this either) but says a 100% I do not have CF? Said no treatment for me. Just Follow up for PFT and Vitamin deficiency checks. I am told I do not have the CF Lungs Bronchiectasis) based on the CT, So I wonder why they just do not do a CT for a diagnose of CF to begin with? Other then My Lung functions for now, I do not know really how many more symptoms I could have which fall under the Older Adult with CF. Looking under the Wikipedia under the cystic Fibrosis, the health problem picture down on the right bottom, (well That is me) have everyone of those problems? http://en.wikipedia.org/wiki/Cystic_fibrosis

jaimers
05-31-2015, 07:19 AM
So your Ambry panel came back with two mutations, G576A and R668C, and with all the symptoms you have the doctor you're seeing still says absolutely no CF? I don't quite understand his reasoning. Is this the same doctor that has been giving you a hard time throughout this whole process, the one that at first refused to even test you for CF? I'm not sure he actually understands what CF is. I know travel is difficult for you but I can't encourage you strongly enough to contact an accredited CF center and explain this whole situation to them and try to get another opinion from a CF doctor that is willing to think outside the box and realize more people are being diagnosed later in life with atypical presentations of the disease.

jricci
05-31-2015, 11:15 AM
If you have had an elevated sweat test of 84 and 90, then you should have been diagnosed with CF. Sweat test gives the definitive diagnosis, not genetic testing. From CFF website: "The sweat test has been the “gold standard” for diagnosing cystic fibrosis (CF) for more than 50 years. When it is performed by trained technicians, and evaluated in an experienced, reliable laboratory, the sweat test is still the best test to diagnose CF."
It sounds like you definitely need to change doctors. This link will take you to CFF website to find an accredited center closest to you: http://www.cff.org/LivingWithCF/CareCenterNetwork/CFFoundation-accreditedCareCenters/
Once you get an official diagnosis and the appropriate treatment, you will start to feel much better form a pulmonary/sinus perspective. Unfortunately, pancreatitis is very difficult to treat; other than supportive measures such as pain meds and diet change, there's not much that can be done. When you go to the new CF center, they can refer you to a GI specialist that has some experience with CF related issues. I hope you start feeling better soon.

madmax33
05-31-2015, 06:55 PM
I keep hitting the wrong key and deleting my post! Thanks for the reply. Yes I am feed up, sick of being sick, sick of test that show crap, golden standard test, my symptoms always being ignored. I guess I am the one werido, that no matter what I have or how sick I get, and test that prove health issues, I am going to keep getting that one last dr who says, NOPE I dont think so. Sick of trying to prove my case. No treatment at this center. just min. at CRMS. Already said I do not have CF lungs. so nothing to treat. I should have walked away from the beginning, being told I was to old. I do not recall this Dr even asking me about my history, health issues etc when seeing him. He ruled it out when I walked in the door. Just need to go get a unbiased opinion somewhere else. Period. I just cannot even print all the stuff here, how this has went. Any other Adults either with CF Diagnose with good lung functions? I feel like I am going to go to my grave never knowing what i have. Also is the only way to check for CF Lungs by CT?? and if you have to have CF lungs, why is this not the golden standard for CF diagnose? I was told I am not correct that the sweat test is not the golden standard for CF? I must be on a other planet, and along with everyone else on here and ligitament sites where I have read a lot of CF info! Hugs

jaimers
06-01-2015, 01:43 PM
Well the problem with sweat tests is that some times they are "negative" or low even though the individual actually does have cf. there are people on the site here that were only diagnosed later through genetic testing because their initial sweat test results were below the standards for a cf diagnosis. That does not appear the be the case with you--you have higher sweat test #s AND two mutations found through genetic testing. With the addition of your symptoms it would seem to me the trifecta for diagnosis. Many of the older members here that were diagnosed later in life don't have typical "cf lungs" because their mutations result in more mild disease expression or have more pancreatic involvement than lung involvement. I know you've tried to be seen at another CF clinic and ran into some referral and travel difficulties but please please please keep fighting for yourself and get away from the doctor your currently seeing! Is there a local PCP that you could bring your medical records to with the genetic test and sweat test results and get them to refer you to the Cf clinic?

mom24dodd
06-02-2015, 12:08 PM
If you have two mutations and a positive Sweat Test - isn't that enough for a diagnosis? I don't understand who is refusing to diagnose CF but I would see another doctor if I were you - keep trying as Jaimers said.

wcherri
06-04-2015, 03:25 PM
Hi Madmax33,

I can relate to some of the things you are going thru...not everything.
I was diagnosed via sweat test when I was 4 yo and treated for CF ever since. I had about a dozen sweat tests when I was a young child (which seems uncommon). They were all positive for CF or "borderline" results. Recently, I have had my sweat tests done two more times (as an adult in my 40s) They were all negative for CF. My drs are all intrigued.
I have had full genetic testing done three times (Ambry, ARUP, Hopkins). Those results indicate one DF508 and one "unknown". I drove to Iowa to get an NPD (Nasal Potential Differential) test for further CF testing. This also came back negative.

All of this "unsure diagnosis" began a couple of years ago when I was "qualifying" for a trial/study. I have had testing done recently at three different hospitals (travel and time off expenses have been out of my own pocket). It can be frustrating. I changed my CF care to a different dr/clinic so that I can have proper support to dig further. My current CF doctor can not say 100% that I have CF; however, he does know that I have chronic lung infections that need to be treated. Fortunately, I am Pancreatic Sufficient (PS). At the moment, we are looking into other testing that may or may not lead to a PCD or Bronchietasis diagnosis.

Just know that there are still many CFTR mutations that are not known. So if the lab results do not come back on your genetic tests...it is still not conclusive that you do not have CF.

I hope this helps a little.

Wendy