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gunelle
11-13-2009, 11:49 AM
Hi all, I am curious to hear from people who share my mutations F508del/R117C, to see how you cope with life in general, and where you are in your life. I know that not all with the same mutations share the same symptoms, but I am curious nevertheless.

I am in my 30s, working, living with my partner in Spain. No children yet. I have a "mild" cf, meaning occasional problems with my lungs, sinusis and recently I am beginning to think I have artritish also. I do breathing excercised daily, and take medication with my nebulizer.

Hope to hear from you soon, thank. <img src="i/expressions/face-icon-small-smile.gif" border="0">

gunelle
11-13-2009, 11:49 AM
Hi all, I am curious to hear from people who share my mutations F508del/R117C, to see how you cope with life in general, and where you are in your life. I know that not all with the same mutations share the same symptoms, but I am curious nevertheless.

I am in my 30s, working, living with my partner in Spain. No children yet. I have a "mild" cf, meaning occasional problems with my lungs, sinusis and recently I am beginning to think I have artritish also. I do breathing excercised daily, and take medication with my nebulizer.

Hope to hear from you soon, thank. <img src="i/expressions/face-icon-small-smile.gif" border="0">

gunelle
11-13-2009, 11:49 AM
Hi all, I am curious to hear from people who share my mutations F508del/R117C, to see how you cope with life in general, and where you are in your life. I know that not all with the same mutations share the same symptoms, but I am curious nevertheless.

I am in my 30s, working, living with my partner in Spain. No children yet. I have a "mild" cf, meaning occasional problems with my lungs, sinusis and recently I am beginning to think I have artritish also. I do breathing excercised daily, and take medication with my nebulizer.

Hope to hear from you soon, thank. <img src="i/expressions/face-icon-small-smile.gif" border="0">

gunelle
11-13-2009, 11:49 AM
Hi all, I am curious to hear from people who share my mutations F508del/R117C, to see how you cope with life in general, and where you are in your life. I know that not all with the same mutations share the same symptoms, but I am curious nevertheless.

I am in my 30s, working, living with my partner in Spain. No children yet. I have a "mild" cf, meaning occasional problems with my lungs, sinusis and recently I am beginning to think I have artritish also. I do breathing excercised daily, and take medication with my nebulizer.

Hope to hear from you soon, thank. <img src="i/expressions/face-icon-small-smile.gif" border="0">

gunelle
11-13-2009, 11:49 AM
Hi all, I am curious to hear from people who share my mutations F508del/R117C, to see how you cope with life in general, and where you are in your life. I know that not all with the same mutations share the same symptoms, but I am curious nevertheless.
<br />
<br />I am in my 30s, working, living with my partner in Spain. No children yet. I have a "mild" cf, meaning occasional problems with my lungs, sinusis and recently I am beginning to think I have artritish also. I do breathing excercised daily, and take medication with my nebulizer.
<br />
<br />Hope to hear from you soon, thank. <img src="i/expressions/face-icon-small-smile.gif" border="0">

smarra
02-27-2010, 05:02 PM
Hi,

My daughter has been diagnosed with deltaF508 and R117C. Her R117C gene has a 7T, do you know what yours is? She's only 18 months old so I can't help you out, but we are very curious of what to expect for her. She has no symptoms currently, she was only diagnosed due to a newborn screening test.

How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.

smarra
02-27-2010, 05:02 PM
Hi,

My daughter has been diagnosed with deltaF508 and R117C. Her R117C gene has a 7T, do you know what yours is? She's only 18 months old so I can't help you out, but we are very curious of what to expect for her. She has no symptoms currently, she was only diagnosed due to a newborn screening test.

How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.

smarra
02-27-2010, 05:02 PM
Hi,

My daughter has been diagnosed with deltaF508 and R117C. Her R117C gene has a 7T, do you know what yours is? She's only 18 months old so I can't help you out, but we are very curious of what to expect for her. She has no symptoms currently, she was only diagnosed due to a newborn screening test.

How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.

smarra
02-27-2010, 05:02 PM
Hi,

My daughter has been diagnosed with deltaF508 and R117C. Her R117C gene has a 7T, do you know what yours is? She's only 18 months old so I can't help you out, but we are very curious of what to expect for her. She has no symptoms currently, she was only diagnosed due to a newborn screening test.

How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.

smarra
02-27-2010, 05:02 PM
Hi,
<br />
<br />My daughter has been diagnosed with deltaF508 and R117C. Her R117C gene has a 7T, do you know what yours is? She's only 18 months old so I can't help you out, but we are very curious of what to expect for her. She has no symptoms currently, she was only diagnosed due to a newborn screening test.
<br />
<br />How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.

saveferris2009
02-27-2010, 08:38 PM
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>smarra</b></i>



How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.</end quote></div>

Please please please realize that the same genes don't mean the same clinical outcome.

And being PROACTIVE with this disease (doing tets and treatments BEFORE symptoms) will lead to a longer life. Please listen to your doctors.

saveferris2009
02-27-2010, 08:38 PM
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>smarra</b></i>



How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.</end quote></div>

Please please please realize that the same genes don't mean the same clinical outcome.

And being PROACTIVE with this disease (doing tets and treatments BEFORE symptoms) will lead to a longer life. Please listen to your doctors.

saveferris2009
02-27-2010, 08:38 PM
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>smarra</b></i>



How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.</end quote></div>

Please please please realize that the same genes don't mean the same clinical outcome.

And being PROACTIVE with this disease (doing tets and treatments BEFORE symptoms) will lead to a longer life. Please listen to your doctors.

saveferris2009
02-27-2010, 08:38 PM
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>smarra</b></i>



How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.</end quote>

Please please please realize that the same genes don't mean the same clinical outcome.

And being PROACTIVE with this disease (doing tets and treatments BEFORE symptoms) will lead to a longer life. Please listen to your doctors.

saveferris2009
02-27-2010, 08:38 PM
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>smarra</b></i>
<br />
<br />
<br />
<br />How old were you when your symptoms started and what types of problems do you have? Our doctors here are suggesting all these tests, but I'm reluctant to put her through this when she has no symptoms and she is so young.</end quote>
<br />
<br />Please please please realize that the same genes don't mean the same clinical outcome.
<br />
<br />And being PROACTIVE with this disease (doing tets and treatments BEFORE symptoms) will lead to a longer life. Please listen to your doctors.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.

I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).

I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a>
My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.

My symptoms are mainly sinuses and "mild" lung issues.

So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.

Take care.

G.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.

I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).

I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a>
My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.

My symptoms are mainly sinuses and "mild" lung issues.

So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.

Take care.

G.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.

I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).

I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a>
My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.

My symptoms are mainly sinuses and "mild" lung issues.

So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.

Take care.

G.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.

I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).

I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a>
My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.

My symptoms are mainly sinuses and "mild" lung issues.

So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.

Take care.

G.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.
<br />
<br />I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).
<br />
<br />I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a><br />
<br />My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.
<br />
<br />My symptoms are mainly sinuses and "mild" lung issues.
<br />
<br />So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.
<br />
<br />Take care.
<br />
<br />G.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.

I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).

I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a>
My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.

My symptoms are mainly sinuses and "mild" lung issues.

So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.

Take care.

G.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.

I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).

I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a>
My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.

My symptoms are mainly sinuses and "mild" lung issues.

So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.

Take care.

G.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.

I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).

I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a>
My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.

My symptoms are mainly sinuses and "mild" lung issues.

So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.

Take care.

G.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.

I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).

I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a>
My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.

My symptoms are mainly sinuses and "mild" lung issues.

So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.

Take care.

G.

gunelle
03-01-2010, 02:18 PM
Hi Smarra, I am not sure what my R117C gene has, I can try to look at my papers to see.
<br />
<br />I can recomend you to have your daughter take those tests the doctor is recomending, because sooner or later, your daughter will begin to show symptons of the illness. And I think it's better for her to be on treatment in order to be protected against the bugs and mucus, rather than cure them when they arrive (if that makes sense?).
<br />
<br />I have written a blog about my CF story, which you can read if you are interested, where I explain my course with the illness. <a target=_blank class=ftalternatingbarlinklarge href="http://blogs.cysticfibrosis.com/index.cfm
">http://blogs.cysticfibrosis.com/index.cfm
</a><br />
<br />My CF really broke out when I was around 30. But I have been sick all my life. I just didn't know what it was. I have had pneumonias and sinus infections as a child and as an adult.
<br />
<br />My symptoms are mainly sinuses and "mild" lung issues.
<br />
<br />So, bottom line, I recomend that your daughter gets treatment, because CF is progressive, and sooner or later, she will show signs of CF.
<br />
<br />Take care.
<br />
<br />G.

smarra
03-21-2010, 12:32 AM
Thanks for your reply. It really helps to talk to someone like yourself. I wish you all the best.

smarra
03-21-2010, 12:32 AM
Thanks for your reply. It really helps to talk to someone like yourself. I wish you all the best.

smarra
03-21-2010, 12:32 AM
Thanks for your reply. It really helps to talk to someone like yourself. I wish you all the best.

smarra
03-21-2010, 12:32 AM
Thanks for your reply. It really helps to talk to someone like yourself. I wish you all the best.

smarra
03-21-2010, 12:32 AM
Thanks for your reply. It really helps to talk to someone like yourself. I wish you all the best.

smarra
03-21-2010, 01:12 AM
I read your blog and I found it very helpful. It will help me look out for things happening with my daughter. She has some good doctors and they are keeping on top of things. As you mentioned in your blog you were shocked when you found out and I think I am still feeling that way about my daughter's case (and scared) b/c at this point she is totally healthy. She doesn't have any excess mucuous and has only had one cold which she handled fine so far.

I can only imagine how frustrating it must have been for you going through all those tests before finally being diagnosed with CF. I guess I am fortunate my daughter has been diagnosed so soon, at least we know what she is dealing with.

You have a good attitude about it all and I think that's great. Thanks for sharing your story, as you probably know there's not a lot of information out there for this gene combination, so it's a relief to have found someone with her genes (even though they say two cases are not always similiar). It makes me a bit less scared knowing its a more mild case. The only people I knew with CF all died in their early twenties so I was very devastated when she was diagnosed.


Take care,
Sandy

smarra
03-21-2010, 01:12 AM
I read your blog and I found it very helpful. It will help me look out for things happening with my daughter. She has some good doctors and they are keeping on top of things. As you mentioned in your blog you were shocked when you found out and I think I am still feeling that way about my daughter's case (and scared) b/c at this point she is totally healthy. She doesn't have any excess mucuous and has only had one cold which she handled fine so far.

I can only imagine how frustrating it must have been for you going through all those tests before finally being diagnosed with CF. I guess I am fortunate my daughter has been diagnosed so soon, at least we know what she is dealing with.

You have a good attitude about it all and I think that's great. Thanks for sharing your story, as you probably know there's not a lot of information out there for this gene combination, so it's a relief to have found someone with her genes (even though they say two cases are not always similiar). It makes me a bit less scared knowing its a more mild case. The only people I knew with CF all died in their early twenties so I was very devastated when she was diagnosed.


Take care,
Sandy

smarra
03-21-2010, 01:12 AM
I read your blog and I found it very helpful. It will help me look out for things happening with my daughter. She has some good doctors and they are keeping on top of things. As you mentioned in your blog you were shocked when you found out and I think I am still feeling that way about my daughter's case (and scared) b/c at this point she is totally healthy. She doesn't have any excess mucuous and has only had one cold which she handled fine so far.

I can only imagine how frustrating it must have been for you going through all those tests before finally being diagnosed with CF. I guess I am fortunate my daughter has been diagnosed so soon, at least we know what she is dealing with.

You have a good attitude about it all and I think that's great. Thanks for sharing your story, as you probably know there's not a lot of information out there for this gene combination, so it's a relief to have found someone with her genes (even though they say two cases are not always similiar). It makes me a bit less scared knowing its a more mild case. The only people I knew with CF all died in their early twenties so I was very devastated when she was diagnosed.


Take care,
Sandy

smarra
03-21-2010, 01:12 AM
I read your blog and I found it very helpful. It will help me look out for things happening with my daughter. She has some good doctors and they are keeping on top of things. As you mentioned in your blog you were shocked when you found out and I think I am still feeling that way about my daughter's case (and scared) b/c at this point she is totally healthy. She doesn't have any excess mucuous and has only had one cold which she handled fine so far.

I can only imagine how frustrating it must have been for you going through all those tests before finally being diagnosed with CF. I guess I am fortunate my daughter has been diagnosed so soon, at least we know what she is dealing with.

You have a good attitude about it all and I think that's great. Thanks for sharing your story, as you probably know there's not a lot of information out there for this gene combination, so it's a relief to have found someone with her genes (even though they say two cases are not always similiar). It makes me a bit less scared knowing its a more mild case. The only people I knew with CF all died in their early twenties so I was very devastated when she was diagnosed.


Take care,
Sandy

smarra
03-21-2010, 01:12 AM
I read your blog and I found it very helpful. It will help me look out for things happening with my daughter. She has some good doctors and they are keeping on top of things. As you mentioned in your blog you were shocked when you found out and I think I am still feeling that way about my daughter's case (and scared) b/c at this point she is totally healthy. She doesn't have any excess mucuous and has only had one cold which she handled fine so far.
<br />
<br />I can only imagine how frustrating it must have been for you going through all those tests before finally being diagnosed with CF. I guess I am fortunate my daughter has been diagnosed so soon, at least we know what she is dealing with.
<br />
<br />You have a good attitude about it all and I think that's great. Thanks for sharing your story, as you probably know there's not a lot of information out there for this gene combination, so it's a relief to have found someone with her genes (even though they say two cases are not always similiar). It makes me a bit less scared knowing its a more mild case. The only people I knew with CF all died in their early twenties so I was very devastated when she was diagnosed.
<br />
<br />
<br />Take care,
<br />Sandy

ladybird
09-29-2014, 02:46 PM
Hi Gunelle and Smara

I wanted to say thanks for sharing your experience with Fdelta508 and R117C. I have the same gene combo, and have no stomach or digestive issues but have severe lung disease. FEV1 is 41% of predicted, and I am 38. I just wanted to stay in touch so we could possibly help each other in the future. I am interested in possible use of Kalydeco, as it seems that some people are using Kalydeco to treat mutations such as ours, which have residual function.

Thanks,

ladybird