M
madmax33
Guest
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