treehugger
New member
44 years old. Delta F508 and a rare one 875 G to C (only 2 others with it as far as we can tell). Lisa
Are you over the median age (36.8)?
- Thread starter LouLou
- Start date
CFHockeyMom
New member
I'm glad this made it's way back to the top. I missed it the first time.
A while back I posted a question inquiring about mutation class and where I could find out about them so I was glad to see this info, LouLou. Where did you dig it up at?
As glad as I am to see it, I'm a little bummed because Sean is a DeltaF508 (ClassII) and a 711+1G>T (ClassI). That sucks <img src="i/expressions/face-icon-small-sad.gif" border="0">
A while back I posted a question inquiring about mutation class and where I could find out about them so I was glad to see this info, LouLou. Where did you dig it up at?
As glad as I am to see it, I'm a little bummed because Sean is a DeltaF508 (ClassII) and a 711+1G>T (ClassI). That sucks <img src="i/expressions/face-icon-small-sad.gif" border="0">
thelizardqueen
New member
I'm sure I'll make it to the median age (don't want to toot my own horn). I'm 24, and still have for the most part mild involvement in my lungs - IVs only twice before. And I'm double delta f508.
CFHockeyMom and others interested in learning more about classes of mutation, etc. see post
CF MUTATIONS
there's a lot of good links.
please those 36.8 or older - please keep posting - let's see if we can determine any patterns. thanks to all those that have posted.
liz, I have no doubt you'll make it past the median - I'm proud of the way you've handled your latest health challenges. now get busy and stay out of trouble!
CF MUTATIONS
there's a lot of good links.
please those 36.8 or older - please keep posting - let's see if we can determine any patterns. thanks to all those that have posted.
liz, I have no doubt you'll make it past the median - I'm proud of the way you've handled your latest health challenges. now get busy and stay out of trouble!
thelizardqueen
New member
But making trouble could be fun Lauren. I think me pushing for IVs made my doc think that I was making trouble, but he finally broke down. I think it says in my chart: "Patient very vocal about health. Seems' to think that she knows more then I, a great doctor. She is a trouble maker, wanting to improve her health." lol.
irishdavid
New member
Michelle you and your family have an amazing story. Lots of twists and turns and you've managed to come through the lot!
I know I shouldn't be posting (I haven't reached the median yet <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) but had to say that I really don't believe that particular mutations have much of an influence on your health compared to other factors (as SeanDavis mentioned). I definatly have one deltaf508 not sure about the second one it could be the same. I'm 22 and have 33% fev1 on a good day. My brother is 2 years younger and has fev1 in the 80's. He has more sinus issues I have more lung. Both have digestive.
I know that you can't take stats from a sample of 2 but I have heard of many other cases of siblings whose cf seems completely different.
Oh and I'm confident (today anyway <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) that I'll get past the 38 mark.
David
I know I shouldn't be posting (I haven't reached the median yet <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) but had to say that I really don't believe that particular mutations have much of an influence on your health compared to other factors (as SeanDavis mentioned). I definatly have one deltaf508 not sure about the second one it could be the same. I'm 22 and have 33% fev1 on a good day. My brother is 2 years younger and has fev1 in the 80's. He has more sinus issues I have more lung. Both have digestive.
I know that you can't take stats from a sample of 2 but I have heard of many other cases of siblings whose cf seems completely different.
Oh and I'm confident (today anyway <img src="i/expressions/face-icon-small-smile.gif" border="0"> ) that I'll get past the 38 mark.
David
thelizardqueen
New member
Its good to know, if ever you decide you want to have kids you will have to be typed.
P
perl
Guest
Don't know my mutation/s, but plan on asking at my next clinic visit. 
Are there other benefits of knowing your mutation besides having children?
Are there other benefits of knowing your mutation besides having children?thelizardqueen
New member
Its interesting that you don't know of anyone with that mutation Amy, as that one is in the same category as delta f508. Both are class twos.
I agree that mutations don't tell the story of your health. I had a sister that died at age 12 from cf and I am 40. I'm not an expert at genetics but I assume that we have the same mutations seeing as we have the same parents. She was only 3 years older than me so we grew up at the same time with the same medical treatments. It is all so individual.
I just turned 36 this month and I was diagnosed at the end of 2001. I am a mother of 4, one (my oldest, just turned 12) was found to have CF about a year ago (he has one copy of DF508 from me and a very rare mutation from my husband, S1426P). My mutations are DF508 and 5T(TG12). Here is a bit about my mutations.....
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in ?10% of
individuals in the general population. When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, or a normal phenotype. To test whether the number of TG repeats adjacent to 5T influences disease penetrance, we determined TG repeat number in 98 patients with male infertility due to congenital absence of the vas deferens, 9 patients with nonclassic CF, and 27 unaffected individuals (fertile men). Each of the individuals in this study had a severe CFTR mutation on one CFTR gene and 5T on the other. Of the unaffected individuals, 78% (21 of 27) had 5T adjacent to 11 TG repeats, compared with 9% (10 of 107) of affected individuals. Conversely, 91% (97 of 107) of affected individuals had 12 or 13 TG repeats, versus only 22% (6 of 27) of unaffected individuals (P<.00001). Those individuals with 5T adjacent to either 12 or 13 TG repeats were substantially more likely to exhibit an abnormal phenotype than those with 5T adjacent to 11 TG repeats (odds ratio 34.0, 95% CI 11.1 - 103.7, P<.00001). Thus, determination of TG repeat number will allow for more accurate prediction of benign versus pathogenic 5T alleles.
I grew up with asthma, allergies, lung infections that would just seem to not go away and chronic constipation. After my 4th child was born I became very ill with pneumonia and it was at that time that the bronchiectasis was discovered, and thus the testing for "why" began. Besides the bronchiectasis I also have severe GERD, sinus problems, (still) chronic constipation, GI and chest pain, problems with gaining weight, and most recently a fatty liver diagnosis. I have been colonized with stenotrophomonas maltophilia for about 2 1/2 years. I had cultured pseudomonas one time before the steno and now my doc thinks the steno is keeping the pseudo at bay. I am lucky enough so far to have stayed out of the hospital (came close last Dec.) and only have had to take oral antibiotics.
It is really interesting to see all of the different mutations and the ages ...I hope this thread keeps going!
Jen 36 w/cf
Mom of 4, one w/cf
An abbreviated tract of five thymidines (5T) in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is found in ?10% of
individuals in the general population. When found in trans with a severe CFTR mutation, 5T can result in male infertility, nonclassic cystic fibrosis, or a normal phenotype. To test whether the number of TG repeats adjacent to 5T influences disease penetrance, we determined TG repeat number in 98 patients with male infertility due to congenital absence of the vas deferens, 9 patients with nonclassic CF, and 27 unaffected individuals (fertile men). Each of the individuals in this study had a severe CFTR mutation on one CFTR gene and 5T on the other. Of the unaffected individuals, 78% (21 of 27) had 5T adjacent to 11 TG repeats, compared with 9% (10 of 107) of affected individuals. Conversely, 91% (97 of 107) of affected individuals had 12 or 13 TG repeats, versus only 22% (6 of 27) of unaffected individuals (P<.00001). Those individuals with 5T adjacent to either 12 or 13 TG repeats were substantially more likely to exhibit an abnormal phenotype than those with 5T adjacent to 11 TG repeats (odds ratio 34.0, 95% CI 11.1 - 103.7, P<.00001). Thus, determination of TG repeat number will allow for more accurate prediction of benign versus pathogenic 5T alleles.
I grew up with asthma, allergies, lung infections that would just seem to not go away and chronic constipation. After my 4th child was born I became very ill with pneumonia and it was at that time that the bronchiectasis was discovered, and thus the testing for "why" began. Besides the bronchiectasis I also have severe GERD, sinus problems, (still) chronic constipation, GI and chest pain, problems with gaining weight, and most recently a fatty liver diagnosis. I have been colonized with stenotrophomonas maltophilia for about 2 1/2 years. I had cultured pseudomonas one time before the steno and now my doc thinks the steno is keeping the pseudo at bay. I am lucky enough so far to have stayed out of the hospital (came close last Dec.) and only have had to take oral antibiotics.
It is really interesting to see all of the different mutations and the ages ...I hope this thread keeps going!
Jen 36 w/cf
Mom of 4, one w/cf