We should develop an anecdotal CFTR mutation database. In one way or another I can relate to each response. I am heterozygous S1235r and have M470V 7T/7T polymorphism. It is ambiguous, even after talking with the geneticist who performed the test whether my '70- was heterozygous or homozygous. My test was performred in 2000 and right now have no reason to repeat the test. I was diagnosed clinically diagnosed, at the age of 50, with CF prior to genetic testing. Even at 50 my sweat test was positive and my pancreatic function test was a North American record. The wording of my genetic test are precious. I just love that word "Atypical", like iit's like a veiled insult purposely obfuscating the joke. At the time of my test, 30% of CFTR mutations were unknown and others Weeks M470V, no CF symptoms are known to be caused by this anomaly. Maybe you haven't looked, we all might ask? Like most in this forum, I define ear and sinus infections as the brief time between the next infection. My official genetic status according to the S1235R, I am a carrier. M470V polymorphism by definition is mono ... or as we hear so often, two copies of the M470V. I stopped being hospitalized with my many bouts of pneumonia in 6th grade. We knew the drill and though tetracycline was about as hot as they get. Oxygen was the only thing we needed to complete home respiratory care. My CF specialist looks at my now 62 year old frame, runs me through the standard lung function, patiently listens to my complaints, looking nervously at his watch. On the plus side of his humoring me when he knows his next patient is waiting on a double lung transplant. Momofmia summed up so much so well for all of us. Genetically I am a CF carrier, therefore I exhibit no symptoms. All of us are proof to the contrary. Are the researchers blindfolded each touching a piece of the elephant, confidently describing this beast? Ya think?
As to M470V or my single copy s1235r, what I don't know is which if either is killing me. My pancreas has been overlooked for the first 50 years of my life. Very little remains but the pain from pancreatic autodigestion is epic. I don't know if my renal cysts and dozen plus really big jack type kidney stones have anything to do with CF, but if passing an 8mm kidney stone without sedation is to be compared to pancreatic autodigestion, I give the stone a 6 to leave room for the 10 of pancreatitis. Some M470V folks had more GI misery than others. From as young as I remember it started with vomiting a fatty meal right after eating it, sometimes a little sooner. By 12 I had ulcers, diarrhea, major constipation, stomach aches in the 8 for pain catagory which usually was followed by house call and a shot that knocked me out. I have been pancreatic insufficient all my life with a childhood gall bladder curse. My stool went from white to tarry black. As an adult, some expensive tests have traced a lifetime of malnutrition. My lungs are xray opaque my osteoporotic bones aren't.
I have just layed out more than anyone really wants to know. There is method here, for all of you who could have gone on, I would like to see a more comprehensive list. Maybe some with M470V who didn't respond may see something familiar and respond.
A final obvious note, like all of you, I am not dead and with a median lifespan of 37, my CF is less aggressive.
