M
Mommafirst
Guest
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Juliet</b></i>
Heather, Have you a prior digital spirometry reading to compare with? I tend to agree that it's not likely very accurate in terms of absolute numbers, but to get changes in the percentage it might be more believable.
I went undiagnosed for 43 years because I am pancreatic sufficient, about 40 lbs overweight, tested borderline normal on sweat tests and was basically considered "too healthy, fat and old" to possibly have CF. I never got over colds without them first going to my chest. When Ambry tested me (full panel) they found DF508, one mutation that was seen only ONCE before and they found a third mutation (2 are on one chromosome) that had never been seen before. Technically that third one is a "novel variant".
There might be a way to discern some information from your children's genetic results. Do Reese and Richie share the same CF mutation? Do you know which mutation your husband is carrying? For example, say you had CF with mutations A+B and your hubby was a carrier of C. Alyssa with CF could have A+C or B+C. Reese and Richie could only be carriers if they had either A or B (but not C). If however you are a carrier and have only mutation A and your husband (as before) is a carrier with C, then Reese and Richie as carriers could have either A or C. In the second scenario B doesn't exist, so Alyssa would have to have A+C to have CF. ~Juliet</end quote></div>
My daughter has W1282X and Y1032C. My boys both carry Y1032C. I carry W1282X. So basically, if I do have CF -- so do my boys. So yes, it is POSSIBLE. I guess I need to continue to look into all this.
Heather, Have you a prior digital spirometry reading to compare with? I tend to agree that it's not likely very accurate in terms of absolute numbers, but to get changes in the percentage it might be more believable.
I went undiagnosed for 43 years because I am pancreatic sufficient, about 40 lbs overweight, tested borderline normal on sweat tests and was basically considered "too healthy, fat and old" to possibly have CF. I never got over colds without them first going to my chest. When Ambry tested me (full panel) they found DF508, one mutation that was seen only ONCE before and they found a third mutation (2 are on one chromosome) that had never been seen before. Technically that third one is a "novel variant".
There might be a way to discern some information from your children's genetic results. Do Reese and Richie share the same CF mutation? Do you know which mutation your husband is carrying? For example, say you had CF with mutations A+B and your hubby was a carrier of C. Alyssa with CF could have A+C or B+C. Reese and Richie could only be carriers if they had either A or B (but not C). If however you are a carrier and have only mutation A and your husband (as before) is a carrier with C, then Reese and Richie as carriers could have either A or C. In the second scenario B doesn't exist, so Alyssa would have to have A+C to have CF. ~Juliet</end quote></div>
My daughter has W1282X and Y1032C. My boys both carry Y1032C. I carry W1282X. So basically, if I do have CF -- so do my boys. So yes, it is POSSIBLE. I guess I need to continue to look into all this.