Genes DF508+384910 kb

jaimers · Nov 17, 2008

hey emer i'm jaime, 23 f from NC and i have the same mutations as you! and you too brea!

I'm a little different b/c i'm PI and was diagnosed at birth (failure to thrive). currently my lung function at my best is between ~58%-60%. i culture PA and a couple kinds of staph, not MRSA though....but i can't remember what type right off the top of my head.

I'm pretty stable right now after a rough 1.5 years of frequent exacerbations and IVs (about every 2-3 months). because of all the IVs over the years (first time was at age 6) my veins are totally shot for PICC lines so i now have a port while i LOVE. its so easy when i need IVs!

Thankfully my PFTs still rebound pretty well but never get higher than 60%. when i'm having a flareup of some bacteria or pneumonia or something like that my pfts drop pretty fast into the low 50s or high 40s.
Now my doc has started me on the every other month Tobi cycle but i do the compounded mix of tobramycin for the e-flow. that seems to be helping me keep the pft's more stable.

i'm in pretty good nutritional health. no g-tube or anything like that and my weight is good and stable--probably could lose a couple pounds actually <img src="i/expressions/face-icon-small-wink.gif" border="0">
I do take ADEKs and nexium for acid reflux and lots of other vitamins as well as pancreatic enzymes.

i've recently started getting back into working out which does wonders for me but i've been a slacker about that for the past few years.

right now i'm living in Italy as a nanny until May 2009 and LOVE it!!

I'm excited to meet some other people with the same mutations and glad to hear yall are doing pretty well!

jaimers · Nov 17, 2008

hey emer i'm jaime, 23 f from NC and i have the same mutations as you! and you too brea!

I'm a little different b/c i'm PI and was diagnosed at birth (failure to thrive). currently my lung function at my best is between ~58%-60%. i culture PA and a couple kinds of staph, not MRSA though....but i can't remember what type right off the top of my head.

I'm pretty stable right now after a rough 1.5 years of frequent exacerbations and IVs (about every 2-3 months). because of all the IVs over the years (first time was at age 6) my veins are totally shot for PICC lines so i now have a port while i LOVE. its so easy when i need IVs!

Thankfully my PFTs still rebound pretty well but never get higher than 60%. when i'm having a flareup of some bacteria or pneumonia or something like that my pfts drop pretty fast into the low 50s or high 40s.
Now my doc has started me on the every other month Tobi cycle but i do the compounded mix of tobramycin for the e-flow. that seems to be helping me keep the pft's more stable.

i'm in pretty good nutritional health. no g-tube or anything like that and my weight is good and stable--probably could lose a couple pounds actually <img src="i/expressions/face-icon-small-wink.gif" border="0">
I do take ADEKs and nexium for acid reflux and lots of other vitamins as well as pancreatic enzymes.

i've recently started getting back into working out which does wonders for me but i've been a slacker about that for the past few years.

right now i'm living in Italy as a nanny until May 2009 and LOVE it!!

I'm excited to meet some other people with the same mutations and glad to hear yall are doing pretty well!

jaimers · Nov 17, 2008

hey emer i'm jaime, 23 f from NC and i have the same mutations as you! and you too brea!

I'm a little different b/c i'm PI and was diagnosed at birth (failure to thrive). currently my lung function at my best is between ~58%-60%. i culture PA and a couple kinds of staph, not MRSA though....but i can't remember what type right off the top of my head.

I'm pretty stable right now after a rough 1.5 years of frequent exacerbations and IVs (about every 2-3 months). because of all the IVs over the years (first time was at age 6) my veins are totally shot for PICC lines so i now have a port while i LOVE. its so easy when i need IVs!

Thankfully my PFTs still rebound pretty well but never get higher than 60%. when i'm having a flareup of some bacteria or pneumonia or something like that my pfts drop pretty fast into the low 50s or high 40s.
Now my doc has started me on the every other month Tobi cycle but i do the compounded mix of tobramycin for the e-flow. that seems to be helping me keep the pft's more stable.

i'm in pretty good nutritional health. no g-tube or anything like that and my weight is good and stable--probably could lose a couple pounds actually <img src="i/expressions/face-icon-small-wink.gif" border="0">
I do take ADEKs and nexium for acid reflux and lots of other vitamins as well as pancreatic enzymes.

i've recently started getting back into working out which does wonders for me but i've been a slacker about that for the past few years.

right now i'm living in Italy as a nanny until May 2009 and LOVE it!!

I'm excited to meet some other people with the same mutations and glad to hear yall are doing pretty well!

jaimers · Nov 17, 2008

hey emer i'm jaime, 23 f from NC and i have the same mutations as you! and you too brea!

I'm a little different b/c i'm PI and was diagnosed at birth (failure to thrive). currently my lung function at my best is between ~58%-60%. i culture PA and a couple kinds of staph, not MRSA though....but i can't remember what type right off the top of my head.

I'm pretty stable right now after a rough 1.5 years of frequent exacerbations and IVs (about every 2-3 months). because of all the IVs over the years (first time was at age 6) my veins are totally shot for PICC lines so i now have a port while i LOVE. its so easy when i need IVs!

Thankfully my PFTs still rebound pretty well but never get higher than 60%. when i'm having a flareup of some bacteria or pneumonia or something like that my pfts drop pretty fast into the low 50s or high 40s.
Now my doc has started me on the every other month Tobi cycle but i do the compounded mix of tobramycin for the e-flow. that seems to be helping me keep the pft's more stable.

i'm in pretty good nutritional health. no g-tube or anything like that and my weight is good and stable--probably could lose a couple pounds actually <img src="i/expressions/face-icon-small-wink.gif" border="0">
I do take ADEKs and nexium for acid reflux and lots of other vitamins as well as pancreatic enzymes.

i've recently started getting back into working out which does wonders for me but i've been a slacker about that for the past few years.

right now i'm living in Italy as a nanny until May 2009 and LOVE it!!

I'm excited to meet some other people with the same mutations and glad to hear yall are doing pretty well!

jaimers · Nov 17, 2008

hey emer i'm jaime, 23 f from NC and i have the same mutations as you! and you too brea!
 
 I'm a little different b/c i'm PI and was diagnosed at birth (failure to thrive). currently my lung function at my best is between ~58%-60%. i culture PA and a couple kinds of staph, not MRSA though....but i can't remember what type right off the top of my head.
 
 I'm pretty stable right now after a rough 1.5 years of frequent exacerbations and IVs (about every 2-3 months). because of all the IVs over the years (first time was at age 6) my veins are totally shot for PICC lines so i now have a port while i LOVE. its so easy when i need IVs!
 
 Thankfully my PFTs still rebound pretty well but never get higher than 60%. when i'm having a flareup of some bacteria or pneumonia or something like that my pfts drop pretty fast into the low 50s or high 40s.
 Now my doc has started me on the every other month Tobi cycle but i do the compounded mix of tobramycin for the e-flow. that seems to be helping me keep the pft's more stable.
 
 i'm in pretty good nutritional health. no g-tube or anything like that and my weight is good and stable--probably could lose a couple pounds actually <img src="i/expressions/face-icon-small-wink.gif" border="0">
 I do take ADEKs and nexium for acid reflux and lots of other vitamins as well as pancreatic enzymes.
 
 i've recently started getting back into working out which does wonders for me but i've been a slacker about that for the past few years.
 
 right now i'm living in Italy as a nanny until May 2009 and LOVE it!!
 
 I'm excited to meet some other people with the same mutations and glad to hear yall are doing pretty well!

Juliet · Nov 17, 2008

It looks like there are a few variants of 3849 mutations in the sick kids database.
<a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=518
">http://cvs.genet.sickkids.on.c...lPage.external?sp=518
</a>
If you go to the search box (text search) and put in 3849 a bunch of other variants will come up too. ~Juliet

Juliet · Nov 17, 2008

It looks like there are a few variants of 3849 mutations in the sick kids database.
<a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=518
">http://cvs.genet.sickkids.on.c...lPage.external?sp=518
</a>
If you go to the search box (text search) and put in 3849 a bunch of other variants will come up too. ~Juliet

Juliet · Nov 17, 2008

It looks like there are a few variants of 3849 mutations in the sick kids database.
<a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=518
">http://cvs.genet.sickkids.on.c...lPage.external?sp=518
</a>
If you go to the search box (text search) and put in 3849 a bunch of other variants will come up too. ~Juliet

Juliet · Nov 17, 2008

It looks like there are a few variants of 3849 mutations in the sick kids database.
<a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=518
">http://cvs.genet.sickkids.on.c...lPage.external?sp=518
</a>
If you go to the search box (text search) and put in 3849 a bunch of other variants will come up too. ~Juliet

Juliet · Nov 17, 2008

It looks like there are a few variants of 3849 mutations in the sick kids database.
 <a target=_blank class=ftalternatingbarlinklarge href="http://cvs.genet.sickkids.on.ca:8080/penguin/MutationDetailPage.external?sp=518
">http://cvs.genet.sickkids.on.c...lPage.external?sp=518
</a> 
 If you go to the search box (text search) and put in 3849 a bunch of other variants will come up too. ~Juliet

emerenta18 · Nov 17, 2008

Gina, I also really believe MRSA is the cause of my drop in lung function, the doctors are puzzled by it, insisting it isn't MRSA and have put me on meds for acid reflux, checked my sinuses, I'm having a bronchoscopy this month to see if im growing anything else because of the frequent IVs, but i think it is the MRSA causing these problems, I was given linezolid (brand name zyvox) which is an oral antibiotic for mrsa, I'm just finishing my third (two week) course of this, but it hasn't eradicated the MRSA, that is very interesting about the allicin, i will look into it, thanks for mentioning it and I'm glad it seems to be benefitting Breanna, Hi Jaime! Nice to meet you, things are a bit different it seems for you, I have heard some people with our mutation are insufficient,I can't absorb vitamins so i don't know will i become insufficient one day, that's great you seem to be recovering from the past year and a half, and starting to exercise again, and wow, being a nanny in Italy, that must be very exciting! Thanks for the link Juliet, it was very interesting! the replies have been much appreciated xx

emerenta18 · Nov 17, 2008

Gina, I also really believe MRSA is the cause of my drop in lung function, the doctors are puzzled by it, insisting it isn't MRSA and have put me on meds for acid reflux, checked my sinuses, I'm having a bronchoscopy this month to see if im growing anything else because of the frequent IVs, but i think it is the MRSA causing these problems, I was given linezolid (brand name zyvox) which is an oral antibiotic for mrsa, I'm just finishing my third (two week) course of this, but it hasn't eradicated the MRSA, that is very interesting about the allicin, i will look into it, thanks for mentioning it and I'm glad it seems to be benefitting Breanna, Hi Jaime! Nice to meet you, things are a bit different it seems for you, I have heard some people with our mutation are insufficient,I can't absorb vitamins so i don't know will i become insufficient one day, that's great you seem to be recovering from the past year and a half, and starting to exercise again, and wow, being a nanny in Italy, that must be very exciting! Thanks for the link Juliet, it was very interesting! the replies have been much appreciated xx

emerenta18 · Nov 17, 2008

Gina, I also really believe MRSA is the cause of my drop in lung function, the doctors are puzzled by it, insisting it isn't MRSA and have put me on meds for acid reflux, checked my sinuses, I'm having a bronchoscopy this month to see if im growing anything else because of the frequent IVs, but i think it is the MRSA causing these problems, I was given linezolid (brand name zyvox) which is an oral antibiotic for mrsa, I'm just finishing my third (two week) course of this, but it hasn't eradicated the MRSA, that is very interesting about the allicin, i will look into it, thanks for mentioning it and I'm glad it seems to be benefitting Breanna, Hi Jaime! Nice to meet you, things are a bit different it seems for you, I have heard some people with our mutation are insufficient,I can't absorb vitamins so i don't know will i become insufficient one day, that's great you seem to be recovering from the past year and a half, and starting to exercise again, and wow, being a nanny in Italy, that must be very exciting! Thanks for the link Juliet, it was very interesting! the replies have been much appreciated xx

emerenta18 · Nov 17, 2008

Gina, I also really believe MRSA is the cause of my drop in lung function, the doctors are puzzled by it, insisting it isn't MRSA and have put me on meds for acid reflux, checked my sinuses, I'm having a bronchoscopy this month to see if im growing anything else because of the frequent IVs, but i think it is the MRSA causing these problems, I was given linezolid (brand name zyvox) which is an oral antibiotic for mrsa, I'm just finishing my third (two week) course of this, but it hasn't eradicated the MRSA, that is very interesting about the allicin, i will look into it, thanks for mentioning it and I'm glad it seems to be benefitting Breanna, Hi Jaime! Nice to meet you, things are a bit different it seems for you, I have heard some people with our mutation are insufficient,I can't absorb vitamins so i don't know will i become insufficient one day, that's great you seem to be recovering from the past year and a half, and starting to exercise again, and wow, being a nanny in Italy, that must be very exciting! Thanks for the link Juliet, it was very interesting! the replies have been much appreciated xx

emerenta18 · Nov 17, 2008

Gina, I also really believe MRSA is the cause of my drop in lung function, the doctors are puzzled by it, insisting it isn't MRSA and have put me on meds for acid reflux, checked my sinuses, I'm having a bronchoscopy this month to see if im growing anything else because of the frequent IVs, but i think it is the MRSA causing these problems, I was given linezolid (brand name zyvox) which is an oral antibiotic for mrsa, I'm just finishing my third (two week) course of this, but it hasn't eradicated the MRSA, that is very interesting about the allicin, i will look into it, thanks for mentioning it and I'm glad it seems to be benefitting Breanna, Hi Jaime! Nice to meet you, things are a bit different it seems for you, I have heard some people with our mutation are insufficient,I can't absorb vitamins so i don't know will i become insufficient one day, that's great you seem to be recovering from the past year and a half, and starting to exercise again, and wow, being a nanny in Italy, that must be very exciting! Thanks for the link Juliet, it was very interesting! the replies have been much appreciated xx

ymikhale · Jan 28, 2009