My nephew goes in for more testing this week and hopefully we will get more information. It is just so hard waiting. My sister has two boys, the one with CF and another. The second doesn't want to be tested even though he too shows similar signs. Ignorance can be somewhat calming. He is 21 and isn't ready to face things.
I have posted questions on other boards but read your notes about your nephew diagnosed at the age of 22. I was wondering what his symptoms were that lead to his diagnosis?
I am 29 and have had lung problems all my life, ranging from pnuemonia at pre-school through to infections that have caused me to be hospitalised over 20 times, requiring IV amonophylene and antibiotics plus sabutamol nebules. It was always believed that I had asthma although I now doubt this as I never have attacks just chest/ sinus infections every month. I also have hardly any allergies. I had sinus surgery last year and they found nasal polyps but the surgery has helped very little.
I have suffered with constipation all my life since a baby and also have chronic Acid Reflux. I was first admitted into hospital for failing to thrive as a 2 week old and have been small and underweight all my life.
I am now trying to press for a diagnosis in case this could be mild CF but am actually quite scared to mention it!
Can you tell me how your nephew was diagnosed so I know what tests to ask for?
My doc said I could have bronchiectasis but a low resolution scan did not reveal this.
Hi there Smith,
I know of 2 other tests you should be able too ask for.
The first is the sweat test, people with CF sweat 100% more salt than the average human, making a sweat test very accurate in diagnosis.If the concentration of chloride is >60 mEq/L, the test is positive; 40-60 mEq/L is borderline; <40 mEq/L is negative.
The second is a blood test. I believe this is less accurate. It involves taking blood and looking for the 2 copies of the CF gene. However there are many different mutations of the gene, and they can only actually spot like half of them too date.
Some of your symptoms do sound similar too symptoms of CF. However, it could just be that you've had bad luck,and had all the symptoms, yet don't have CF itself. Bad luck-because it obviously makes treating you a lot more difficult. Sinuses I know of a few people with CF who have has nasal polyps, and have had too have an op. Pnumonia-not heard of too many people with CF getting it. We were once advised too get the vaccine as we were more at risk, but since it's being decided it's the same risk as "normal" people. Acid reflux can be a CF symptom, but then, I think most people can get it anyway.
The one symptom I would say sounds least likely, is the constipation. Because it most people with CF, the chloride channels are blocked in the pancreas, meaning mucous builds up there, the same way as it would in the lungs. This blocks important enzymes getting through, meaning food cannot be digested, meaning it passes straight through. More likely causing very bad diorrhea, with greasy and floaty stools. You will find most people with CF, are on an enzyme supplement, like Creon. These put the enzymes in there, so food can be digested. I know personaly if I miss one dose of creon with a high calorie meal. I end up paying for it, by spending the next day running too the toilet.
However you could be one of the few that are pancreatic sufficient, meaning you don't have a blocked up pancreas so enzymes in your body work. The constipation thing could be another problem entirley.
You're right in thinking the best thing to do, is too mention your concerns and ask for testing. The earlier you are diagnosed with CF, the quicker you can be put on meds too make you feel more comfortable.
Concerned aunt/mom- How have the tests gone, have the results come back yet? I hope things have gone ok, and it turns out none of your family has CF. Hope you're all doing well!
Best Wishes to you both!
Post Edited (Darkies Gem) : 6/19/2008 12:10:06 AM (GMT-6)