My mutations..
- Thread starter nocode
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M
MCGrad2006
Guest
I have n1303K!!!! thats so wierd, ive never talked to anyone. All I know is that its pancreatic INSUFFICIENT. I also have Delta f 508, so I dont really know. I have always been pretty healthy. I, like I said am pancreatic insufficient, so I take enzymes. My lung disease hasnt been all that bad. I get hospitalized one to two times a year and colonize Psuedomas and MRSA (three kinds aparently). My PFT's are typically high 70's to low 80's. I think its more of what the combination of your two mutations that complete teh whole disease. I dunno, thats my thoughts. What do you know about our common mutation? How is your disease? I think that the book I have says there are less than 1.3% of people with this mutation, so its quite rare. PM if you wanna chat. 
hello mutation sister. i actually don't have pancreatic insufficience(although i've always been quite thin) and my lungs have been relatively ok, i have only been hospitalized once when i was 17 , i was only diagnosed at age 15, but had had the symptoms since i was 9! so my health was very bad back in those years because i wasn't being medicated, since then it's been well, even improving. I know nothing about mutations, only that the d508 is the most common. my doctor has said that my mutations were ok ones.. i have lived in ireland in the past for a year,which as you probably know, has a very high rate of cf cases, and they had never met any patients there with these mutations, so you might be right, it must be kind of rare.. they said in ireland as well that normally the least common mutations are the mildest ones, but its not a rule. where are you from? maybe we have the same dad or mum... (ahah bad joke..)
Vera, 23.
Your friendly neighborhood genetics nerd here...
N1303k is a class 2, more often associated with a severe phenotype, especially in the reign of pancreatic sufficiency.
HOWEVER, your second mutation is associated with a less severe form of CF, so the actual phenotype of the two will probably be somewhere in the middle. R334w is a class 4 mutation.
N1303k is a class 2, more often associated with a severe phenotype, especially in the reign of pancreatic sufficiency.
HOWEVER, your second mutation is associated with a less severe form of CF, so the actual phenotype of the two will probably be somewhere in the middle. R334w is a class 4 mutation.
M
MCGrad2006
Guest
WIERD!!! no offense! I'm gonna PM you!
cysticfibrosisgirl
New member
~hey~
i have two ^f508's and i have bad lungs. and need allot of enzymes.
It's very hard for me to have normal stools. Soon I will need to start on oxgen at night soon due to issues breathing at night when laying down.
The funny thing is that my sweat test was normal and yet I have 2 F508's!?
I hate the sweat test is just does not seem to work well so meany people have had issues with it and there is people dieing from not knoing what is wrong just becuase there (Sweat test was normal)
I get lung infections sooo much. I am always on meds for that.
19/w CF 2# F508's
i have two ^f508's and i have bad lungs. and need allot of enzymes.
It's very hard for me to have normal stools. Soon I will need to start on oxgen at night soon due to issues breathing at night when laying down.
The funny thing is that my sweat test was normal and yet I have 2 F508's!?
I hate the sweat test is just does not seem to work well so meany people have had issues with it and there is people dieing from not knoing what is wrong just becuase there (Sweat test was normal)
I get lung infections sooo much. I am always on meds for that.
19/w CF 2# F508's
Hum..i had no idea what the story was with the mutations, sometimes i preffer to "stay in the dark" when it comes to knowing too much about cf, you know guys, every case is unique and we could feel very down by reading statistics etc..
Allie, thanks for you information, is there any way to explain why i don't have pancreatic insufficiency,if i have that class 2 mutation? Could it be because it's combined with the other mild one?
Thanks.
Allie, thanks for you information, is there any way to explain why i don't have pancreatic insufficiency,if i have that class 2 mutation? Could it be because it's combined with the other mild one?
Thanks.
nocode,
how do you know you your pancreas is working completely? Have you recently had a fecal fat test? If you eat a low fat diet you could very well not experience belly aches and such. Being that you are thin is a huge sign things could maybe not be working. Where do you live? Its very rare in the US (I think) for people to not be on enzymes....ever.
Also, have you had an Oral Glucose Tolerance Test? The CFF says that everyone over 14 should be getting it yearly.
how do you know you your pancreas is working completely? Have you recently had a fecal fat test? If you eat a low fat diet you could very well not experience belly aches and such. Being that you are thin is a huge sign things could maybe not be working. Where do you live? Its very rare in the US (I think) for people to not be on enzymes....ever.
Also, have you had an Oral Glucose Tolerance Test? The CFF says that everyone over 14 should be getting it yearly.
Hang in there Anika ! (BTW I like your name)
Caitlin and Chris, weird thing is I too have N1303 and df508. It can't be that uncommon!
I'm a 41 year-old female. I can't honestly say it's been a breeze reaching this age. I think I've had some good fortune to pull me through.
Anyhow one's gene mutations don't necessarily reflect one's prognosis. You might reach 41 in much better condition than I am in now (and I hope you do)... but then again you might fair worse... There are too many non-CF-gene factors that weigh heavily...
We each kinda have to wing it with our own individual bag of dealt cards.
Best of luck to all of you!
Caitlin and Chris, weird thing is I too have N1303 and df508. It can't be that uncommon!
I'm a 41 year-old female. I can't honestly say it's been a breeze reaching this age. I think I've had some good fortune to pull me through.
Anyhow one's gene mutations don't necessarily reflect one's prognosis. You might reach 41 in much better condition than I am in now (and I hope you do)... but then again you might fair worse... There are too many non-CF-gene factors that weigh heavily...
We each kinda have to wing it with our own individual bag of dealt cards.
Best of luck to all of you!
nocode,
how do you know you your pancreas is working completely? Have you recently had a fecal fat test? If you eat a low fat diet you could very well not experience belly aches and such. Being that you are thin is a huge sign things could maybe not be working. Where do you live? Its very rare in the US (I think) for people to not be on enzymes....ever.
Also, have you had an Oral Glucose Tolerance Test? The CFF says that everyone over 14 should be getting it yearly.</end quote></div>
Hi, i understand your doubts but i did get a fecal test done recently and it accused that i don't have pancreatic insufficiency, as well as all the others i got done in the last 4 /5 years. Maybe i'm naturally thin. Also, read up Allie's reply and that might be another explanation,that my milder mutation covers the other one.
Anyway, i don't live in the U.S. i, I live in Portugal, and over here they prefer to not come on too strong medication wise, unless the person needs a certain treatment/medication, they NORMALLY (not always) wouldn't give it to you "just in case".Another thing that i notice is that over here, doctors don't base their decisions so much on numbers, but mostly on the way the person's feeling. Let's say,if i accuse a certain bacteria in my lungs at a certain time, but if i feel great (not tired,not coughing, with appetite etc) they would choose not to put me on an antibiotic (it happened on my last appointment), and the bacteria eventually fades (it has happened too).
It's been working out fine for me.
how do you know you your pancreas is working completely? Have you recently had a fecal fat test? If you eat a low fat diet you could very well not experience belly aches and such. Being that you are thin is a huge sign things could maybe not be working. Where do you live? Its very rare in the US (I think) for people to not be on enzymes....ever.
Also, have you had an Oral Glucose Tolerance Test? The CFF says that everyone over 14 should be getting it yearly.</end quote></div>
Hi, i understand your doubts but i did get a fecal test done recently and it accused that i don't have pancreatic insufficiency, as well as all the others i got done in the last 4 /5 years. Maybe i'm naturally thin. Also, read up Allie's reply and that might be another explanation,that my milder mutation covers the other one.
Anyway, i don't live in the U.S. i, I live in Portugal, and over here they prefer to not come on too strong medication wise, unless the person needs a certain treatment/medication, they NORMALLY (not always) wouldn't give it to you "just in case".Another thing that i notice is that over here, doctors don't base their decisions so much on numbers, but mostly on the way the person's feeling. Let's say,if i accuse a certain bacteria in my lungs at a certain time, but if i feel great (not tired,not coughing, with appetite etc) they would choose not to put me on an antibiotic (it happened on my last appointment), and the bacteria eventually fades (it has happened too).
It's been working out fine for me.
KristenDean
New member
This may be kind of scientific, but there is a website called genetests.org. If you click on "GeneReviews" at the top, you can then type in "cystic fibrosis", and select the "reviews" tab next to it.
It will give you a lot of information, but it tailored for health professionals more than patients.
But it does have information regarding some of the different mutations...
-Kristen
It will give you a lot of information, but it tailored for health professionals more than patients.
But it does have information regarding some of the different mutations...
-Kristen
Catherine Wyatt
New member
Both of your mutations are rare at less that 1% occurrence.
R334W .05%
N1303K .49%
I got this information for http://www.cfmedicine.com The genetics of Cystic Fibrosis
I am a carrier for R334 W. My husband is a carrier of delta F508. My baby was tested via amnio and I am waiting on the results.
R334W .05%
N1303K .49%
I got this information for http://www.cfmedicine.com The genetics of Cystic Fibrosis
I am a carrier for R334 W. My husband is a carrier of delta F508. My baby was tested via amnio and I am waiting on the results.