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!
L206w
- Thread starter 4hats
- Start date
G
GoryLori
Guest
Yes. Count me in as a proud owner of an L206W AND 591del19 mutation, which lucky for me, genetically programmed me to have CF.
The L206W mutation has a strong following in Canada amongst French, Catholic families where they tended to have MANY offspring.
I myself, and not affiliated with a French Catholic background but I am Canadian, eh.
I'd be hopeful we could email and share our CF stories.
Email on this website where I am logged in as a member under the user id of GoryLori.
R
rheamc
Guest
I have the L206W as well along with the DF508. I would love to hear what other people with this are experiencing, because I think in my area there is very little education on what the "lesser mutations" are and what symptoms they have. I was diagnosed about 4 years ago at the age of 45. I am 100 percent French Canadian and was told this was the origin of the L206w. My user name is rheamc and I would love to exchange emails.
I have 1 L206W and 1 unidentified gene. I was undiagnosed until age 38. I'm now 49. Until diagnosis, I was told I had asthma/allergies/bronchiectasis. I have a very mild case of CF, although I stayed pretty sick until getting diagnosed and getting CF meds and treatments. Now I stay very well 
What are your symptoms/experiences.
What are your symptoms/experiences.Hi, my name is Bekki, I live in Oregon, and I also have the L206W gene combined with R553X. I am 32 and was just diagnosed at the age of 31 last November while 8 months pregnant with my 3rd child. I didn't have any symptoms until I was 15, but once they started I was sick all the time. I was told for the longest time it was bronchiectasis. It is interesting to see other people with the same mutation having a late diagnosis as well. I assume this is because L206W carriers should all be pancreatic sufficient according to the database.
G
GoryLori
Guest
I too, am completely PS (Pancreatic Sufficient). My pancreas makes its own enzymes and does its job perfectly.
This seems to be a class characteristic of the L206W mutation, and it is fortunate for me.
I do NOT have any trouble holding weight, and I am obese, the opposite of sickly and skinny CFers I know.
There was a time where I was on enzymes because the doc said "EVERYONE with CF HAD to take enzymes", so I swollowed them but NOTHING positive happened, so after 6 months, I threw them all down the toilet.
I am colonized with both Pseudomonas aeruginosa and Burkholderia cepacia complex, type 3, which just complicates everything and scares the begeebees out of the CF clinic.
Unlike some, I was diagnosed at birth based on have siblings with CF, so it was a no brainer.
I live in the South and have a happy life.
Email me!
This seems to be a class characteristic of the L206W mutation, and it is fortunate for me.
I do NOT have any trouble holding weight, and I am obese, the opposite of sickly and skinny CFers I know.
There was a time where I was on enzymes because the doc said "EVERYONE with CF HAD to take enzymes", so I swollowed them but NOTHING positive happened, so after 6 months, I threw them all down the toilet.
I am colonized with both Pseudomonas aeruginosa and Burkholderia cepacia complex, type 3, which just complicates everything and scares the begeebees out of the CF clinic.
Unlike some, I was diagnosed at birth based on have siblings with CF, so it was a no brainer.
I live in the South and have a happy life.
Email me!