L206w

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GoryLori

Guest
Anyone else out there have the L206w mutation?

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.
 
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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.
 

rtorres25

Member
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.

Anyone else out there have the L206w mutation?
 

4hats

New member
Thank you GoryLori, rheamc and rtorres25 for responding. I've sent you all a Private Message on this forum. Check your inbox.
 

bekki44

New member
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.
 
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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!
 
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