Many infants with CF are pretty healthy early on, their lungs are actually in good shape then. This is a progressive illness with so many grey areas. Your daughter has tested positive genetically? What are the mutations may I ask? I only ask because there are genotypes that are indicative of classic CF. Of course, no two CF'ers are alike, even with the same mutations. There are alot of different factors involved with this disease...there are folks who are in their 50's and doing reasonably well, yet there are young kids as young as 6 getting lung transplants because their lungs are so damaged. Some CF'ers don't require enzymes most do...so you see, lots of variations.
I am a CF'er...diagnosed at 33 but have had issues all my life, just not "classic" symptoms. I have had my share of pneumonia etc. You need to know that a doctor looks at many things when diagnosing CF. Sweat tests aren't used exclusively for diagnosing CF...In my case, my sweat test was borderline, not clearly positive but high enough to warrant a full work up, including genetics. I have atypical CF, I have one rare-ish mutation and a variant from what I understand. I am just writing this because there are just so many variables to CF, it isn't a shirt size fit all type of disease. I was diagnosed because the doc looked at the whole picture and did perform tests to rule out other diseases that might mimic some CF symptoms...they were quite thorough.
As far as meds go, docs tend to be aggressive because we progress to very serious infections rapidly without intervention, especially once the lungs have suffered irreversible damaged and are a bit more fragile. I have learned this lesson at a high price, I put off treatment one time, thinking it would ride itself out and was hospitalized for nearly two months as a result because by the time I was treated, I was very very ill and could have died because the bacteria had found its way into my blood.
Our lungs are like petri dishes, very thick mucous because of our faulty sodium chloride channels. Bacteria have a field day in there...think about it, dark, damp and warm with plenty of food source....a bacteria's dream. The thick mucous doesn't just stay in the lungs, it is in the pancreas too with most CF'ers which is why most need enzymes with their meals because their digestive enzymes (lipase, amylase and protease) can't get to the food to break it down so it just passes through. If your daughter has multiple, foul smelling frothy stools, that is an indication of pancreatic insufficiency. There are a few tests that can diagnose that, such as fecal fat test and the elastace (sp?) test, google both if you want to know more about them.
There are other tests that aren't performed routinely at CF centers but if abnormal, are indicative specifically for CF such as the nasal potential difference test, google it if you wish. Definitely take your daughter to other centers to redo these tests if you wish or to look for other causes for elevated sweat tests. If place after place says CF, then it more than likely is CF.
I really do wish the best for you and your daughter, please follow up and repeat tests that you have in question and do ask many questions. This is a very serious disease if she does indeed have it that requires life long aggressive therapies. The great thing is there are new drugs that are extremely promising for kids today. Of course there are alternative medicines that are used in adjunct with traditional medicine that are helpful too....
Jenn 39 w/CF
I am a CF'er...diagnosed at 33 but have had issues all my life, just not "classic" symptoms. I have had my share of pneumonia etc. You need to know that a doctor looks at many things when diagnosing CF. Sweat tests aren't used exclusively for diagnosing CF...In my case, my sweat test was borderline, not clearly positive but high enough to warrant a full work up, including genetics. I have atypical CF, I have one rare-ish mutation and a variant from what I understand. I am just writing this because there are just so many variables to CF, it isn't a shirt size fit all type of disease. I was diagnosed because the doc looked at the whole picture and did perform tests to rule out other diseases that might mimic some CF symptoms...they were quite thorough.
As far as meds go, docs tend to be aggressive because we progress to very serious infections rapidly without intervention, especially once the lungs have suffered irreversible damaged and are a bit more fragile. I have learned this lesson at a high price, I put off treatment one time, thinking it would ride itself out and was hospitalized for nearly two months as a result because by the time I was treated, I was very very ill and could have died because the bacteria had found its way into my blood.
Our lungs are like petri dishes, very thick mucous because of our faulty sodium chloride channels. Bacteria have a field day in there...think about it, dark, damp and warm with plenty of food source....a bacteria's dream. The thick mucous doesn't just stay in the lungs, it is in the pancreas too with most CF'ers which is why most need enzymes with their meals because their digestive enzymes (lipase, amylase and protease) can't get to the food to break it down so it just passes through. If your daughter has multiple, foul smelling frothy stools, that is an indication of pancreatic insufficiency. There are a few tests that can diagnose that, such as fecal fat test and the elastace (sp?) test, google both if you want to know more about them.
There are other tests that aren't performed routinely at CF centers but if abnormal, are indicative specifically for CF such as the nasal potential difference test, google it if you wish. Definitely take your daughter to other centers to redo these tests if you wish or to look for other causes for elevated sweat tests. If place after place says CF, then it more than likely is CF.
I really do wish the best for you and your daughter, please follow up and repeat tests that you have in question and do ask many questions. This is a very serious disease if she does indeed have it that requires life long aggressive therapies. The great thing is there are new drugs that are extremely promising for kids today. Of course there are alternative medicines that are used in adjunct with traditional medicine that are helpful too....
Jenn 39 w/CF