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Mutation L997F

A

anonymous

New member
My daughter is diagnosed with CF so far with only one mutation a very rare one L997F, anyone else have this mutation???? Thanks, Joan
 
A

anonymous

New member
Sorry, I haven't heard of that one, but I will keep my eyes open for info about it. Does your daughter have a double L997F?
 
A

anonymous

New member
No my daughter has only the one mutation to date. They cant find a second one and she has had multiple genetic testing. Thanks.
 
M

momofsinus

Guest
Hi! I know you posted this awhile ago but I was doing a search on this mutation and your post came up.
My son, now 26, has the same mutation. The CF center near Chicago considers him a carrier. They told him carriers can have "minor" symptoms. His problems first manifested when he was 19 when he was in college. He started having terrible sinus issues - repeated infections and polyps. After 3 surgeries and repeated cleanings form ENT, things on that front have calmed down. He has had three respiratory (lung) infections, one each in the last 3 years.
My question is how is your child's cf showing itself and how did the doctors decide it was cf if only one mutation was found? I'm figuring that there are already so many possible mutations identified that researchers keep discovering more and they had not discovered the "other" one that my son has when he had the full Ambry panel done in 2008. Thanks for any perspective you have on this. Good luck.
Patrice
 
M

momofsinus

Guest
Hi! I know you posted this awhile ago but I was doing a search on this mutation and your post came up.
My son, now 26, has the same mutation. The CF center near Chicago considers him a carrier. They told him carriers can have "minor" symptoms. His problems first manifested when he was 19 when he was in college. He started having terrible sinus issues - repeated infections and polyps. After 3 surgeries and repeated cleanings form ENT, things on that front have calmed down. He has had three respiratory (lung) infections, one each in the last 3 years.
My question is how is your child's cf showing itself and how did the doctors decide it was cf if only one mutation was found? I'm figuring that there are already so many possible mutations identified that researchers keep discovering more and they had not discovered the "other" one that my son has when he had the full Ambry panel done in 2008. Thanks for any perspective you have on this. Good luck.
Patrice
 
J

JustDucky

New member
It is entirely possible that he has an unknown mutation along with L997F, there are people on this board who have been diagnosed with CF with one mutation but who have enough symptoms to warrant a diagnosis of CF. It might be helpful for you to go to another CF center to get input on this. Opinions vary from one clinic to another. Do you happen to know if he had sweat tests done? Even if he is borderline (less than 60, greater than 30), I wouldn't rule CF out. My sweats are 48 and 50, yet I have CF. I have a variant and one known mutation, but have enough problems to get a CF diagnosis. This is important because I now get appropriate treatment that I know has helped me, such as nebulized antibiotics, Pulmozyme, Hypertonic saline etc.....I was diagnosed 7 years ago at 33.
Either way, it sounds like your son could benefit from some of these treatments if he is getting sick this often. There are also additional tests out there that can help doctors diagnose CF , such as nasal potential testing. I know of a few people on this board who have had that test done and could possibly point you to a center that performs them closest to you. This test isn't performed by many centers, but if your son's CF status is in question, it might be worth the trip to get this test done.

Good luck,
Jenn 40 w/CF
 
J

JustDucky

New member
It is entirely possible that he has an unknown mutation along with L997F, there are people on this board who have been diagnosed with CF with one mutation but who have enough symptoms to warrant a diagnosis of CF. It might be helpful for you to go to another CF center to get input on this. Opinions vary from one clinic to another. Do you happen to know if he had sweat tests done? Even if he is borderline (less than 60, greater than 30), I wouldn't rule CF out. My sweats are 48 and 50, yet I have CF. I have a variant and one known mutation, but have enough problems to get a CF diagnosis. This is important because I now get appropriate treatment that I know has helped me, such as nebulized antibiotics, Pulmozyme, Hypertonic saline etc.....I was diagnosed 7 years ago at 33.
Either way, it sounds like your son could benefit from some of these treatments if he is getting sick this often. There are also additional tests out there that can help doctors diagnose CF , such as nasal potential testing. I know of a few people on this board who have had that test done and could possibly point you to a center that performs them closest to you. This test isn't performed by many centers, but if your son's CF status is in question, it might be worth the trip to get this test done.

Good luck,
Jenn 40 w/CF
 
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momofsinus

Guest
Yes, he had the sweat test at the CF clinic - 22 - well within the normal range. Thanks for your insight. The key is to have him take responsibility for his health. He feels SO much better now that the sinus issues are under control. I don't think he is in a good place to really look into the reality of CF.
 
M

momofsinus

Guest
Yes, he had the sweat test at the CF clinic - 22 - well within the normal range. Thanks for your insight. The key is to have him take responsibility for his health. He feels SO much better now that the sinus issues are under control. I don't think he is in a good place to really look into the reality of CF.
 
P

Printer

Active member
L997F is a major contributor to CF related pancreatitis. Having been there and having lost the production of my pancreatic enzymes, I would strongly suggest that not take this lightly.

He had better "look into the reality of CF" and keep looking into it.

Bill
 
P

Printer

Active member
L997F is a major contributor to CF related pancreatitis. Having been there and having lost the production of my pancreatic enzymes, I would strongly suggest that not take this lightly.

He had better "look into the reality of CF" and keep looking into it.

Bill
 
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