What's new
By:
Filters
Cystic Fibrosis Forum (EXP)

This is a sample guest message. Register a free account today to become a member! Once signed in, you'll be able to participate on this site by adding your own topics and posts, as well as connect with other members through your own private inbox!

Mutation N1303K

C

cfgf28

Guest
Does anyone know anything about this mutation? or if there are any new drugs that help with this one in combinantion with Delta f508?? I haven't found much out there about this one.
 
C

cfgf28

Guest
Does anyone know anything about this mutation? or if there are any new drugs that help with this one in combinantion with Delta f508?? I haven't found much out there about this one.
 
A

Anomie

New member
My daughter has those two mutations. They're both class 2 mutations meaning the protein doesn't make it to the cell surface due to improper folding. We were basically told by the doctors that you can't rely on genotype to try to predict how the disease will progress and all I found online about this gene is that its related to severe pancreatic insufficiency. The good news for us is that vertex just modified their vx770/809 trials to include people with only one deltaf508 gene! Vx661 is starting clinical trials soon and according to the director at our clinic, people with delta f508 may need all 3 vertex drugs. Two to fix each of the misfoldings in the protein and the 770 to get it through the gate.
Cheers and best of luck to you!
 
A

Anomie

New member
My daughter has those two mutations. They're both class 2 mutations meaning the protein doesn't make it to the cell surface due to improper folding. We were basically told by the doctors that you can't rely on genotype to try to predict how the disease will progress and all I found online about this gene is that its related to severe pancreatic insufficiency. The good news for us is that vertex just modified their vx770/809 trials to include people with only one deltaf508 gene! Vx661 is starting clinical trials soon and according to the director at our clinic, people with delta f508 may need all 3 vertex drugs. Two to fix each of the misfoldings in the protein and the 770 to get it through the gate.
Cheers and best of luck to you!
 
M

MCGrad2006

Guest
I have those two also!! I have an appointment with my doctor on Feb. 9, I will definitely be asking him. Anomie...that sounds like good news!!
 
M

MCGrad2006

Guest
I have those two also!! I have an appointment with my doctor on Feb. 9, I will definitely be asking him. Anomie...that sounds like good news!!
 
C

cfgf28

Guest
Caitlin, can you let me know what the tell you about the new drugs, and these mutations?
 
C

cfgf28

Guest
Caitlin, can you let me know what the tell you about the new drugs, and these mutations?
 
1

1woodswoman

Guest
I also have the N1303K gene that has severely affected my pancreas, & is also affecting my digestive system. They have not identified the other gene.
I just posted some information about this gene on the "Newly Diagnosed" forum, if you want to check it out.
If you go to the NIH website, along with other gov't & nonprofit research websites, you'll find a lot of info on this gene.
Right now, the only meds that have given me some relief are pancreatic enzymes (1st Creon, then swithced to Zenpep), lomotol for symptons, & Prandin oral med for CFR Diabetes. But I'm still having digestive problems that the Dr's haven't figured out yet.
If at all possible, find a GI w/pancreas & CF experience.
 
1

1woodswoman

Guest
I also have the N1303K gene that has severely affected my pancreas, & is also affecting my digestive system. They have not identified the other gene.
I just posted some information about this gene on the "Newly Diagnosed" forum, if you want to check it out.
If you go to the NIH website, along with other gov't & nonprofit research websites, you'll find a lot of info on this gene.
Right now, the only meds that have given me some relief are pancreatic enzymes (1st Creon, then swithced to Zenpep), lomotol for symptons, & Prandin oral med for CFR Diabetes. But I'm still having digestive problems that the Dr's haven't figured out yet.
If at all possible, find a GI w/pancreas & CF experience.
 
M

MCGrad2006

Guest
I will definitely keep everyone posted! This is exciting stuff!
 
M

MCGrad2006

Guest
I will definitely keep everyone posted! This is exciting stuff!
 
C

cfgf28

Guest
My bf has this mutation but he has not had many dgestive problems, he does have to take enzymes with everything he eats, as a baby he wasn't gaining weight, whih led to his diagnosis. The only other thing he takes for digestion is prilosec, and has had his gall bladder removed, Im pretty sure due to gall stones, but they weren't really bothering him.
 
C

cfgf28

Guest
My bf has this mutation but he has not had many dgestive problems, he does have to take enzymes with everything he eats, as a baby he wasn't gaining weight, whih led to his diagnosis. The only other thing he takes for digestion is prilosec, and has had his gall bladder removed, Im pretty sure due to gall stones, but they weren't really bothering him.
 
1

1woodswoman

Guest
Bill-
Thanks for the tip. I've tried increasing the enzymes, along with being more careful with what I eat. Staying away from fried foods, hard to digest raw vegetables, & simple sugars has helped a lot. I've really changed my diet in the last month, tracked exactly what I eat, & it's helped also.
 
1

1woodswoman

Guest
Bill-
Thanks for the tip. I've tried increasing the enzymes, along with being more careful with what I eat. Staying away from fried foods, hard to digest raw vegetables, & simple sugars has helped a lot. I've really changed my diet in the last month, tracked exactly what I eat, & it's helped also.
 
You must log in or register to reply here.
Top