Resources for atypical cases

[mom2lillian]

I have a mutation classified as 'atypical' with a 'dominant mild effect' in the literature. This year a girls father with the same mutation sought me out.

We have started a website for those of us with our mutation. We are trying to amass enough individuals from across the world to get a good representative sampling. THere is a doctor in the UK who is interested in studying us and writing research papers on us if we can get enough of us gathered up.

We are doing this in the hopes of showing exactly what a wide variety of symptoms there can be for someone even with the same 'dominant mild mutation' and those diagnosed in their 20, 30, and later. Currently many doctors diagnose you as 'atypical' if you dont foot the bill they are used to thinking of but others are diagnosing 'atypical' if oyou are diagnosed as an adult.

SHould someone who only finds out they have CF due to a missing vas def in their 30's be treated the same as someone like me who was diagnosed in their 20's after years of problems? It is hard to know, there is NO data out there, the CFF has no guidelines and truly many doctors have no idea what to do with us.

I have at times felt like I wasnt receiving the most proactive care that I could because I was 'so healthy'. Our hope is that the CFF will address this in the coming years because as was mentioned there is such a variety of ways to address this issue and it is so sad that now that our technology has advanced enough to diagnose us some are still 'failling through the cracks' in the system and not being treated appropriately or perhaps even at all until they are 'sick enough' to meet the bill.

ANd for those who are interested there is a WIDE vary of presentations for those of us with P67L ranging from transplant list to a virtual lack of sypmtoms well into life.

 

[mom2lillian]

I have a mutation classified as 'atypical' with a 'dominant mild effect' in the literature. This year a girls father with the same mutation sought me out.

We have started a website for those of us with our mutation. We are trying to amass enough individuals from across the world to get a good representative sampling. THere is a doctor in the UK who is interested in studying us and writing research papers on us if we can get enough of us gathered up.

We are doing this in the hopes of showing exactly what a wide variety of symptoms there can be for someone even with the same 'dominant mild mutation' and those diagnosed in their 20, 30, and later. Currently many doctors diagnose you as 'atypical' if you dont foot the bill they are used to thinking of but others are diagnosing 'atypical' if oyou are diagnosed as an adult.

SHould someone who only finds out they have CF due to a missing vas def in their 30's be treated the same as someone like me who was diagnosed in their 20's after years of problems? It is hard to know, there is NO data out there, the CFF has no guidelines and truly many doctors have no idea what to do with us.

I have at times felt like I wasnt receiving the most proactive care that I could because I was 'so healthy'. Our hope is that the CFF will address this in the coming years because as was mentioned there is such a variety of ways to address this issue and it is so sad that now that our technology has advanced enough to diagnose us some are still 'failling through the cracks' in the system and not being treated appropriately or perhaps even at all until they are 'sick enough' to meet the bill.

ANd for those who are interested there is a WIDE vary of presentations for those of us with P67L ranging from transplant list to a virtual lack of sypmtoms well into life.

 

[mom2lillian]

I have a mutation classified as 'atypical' with a 'dominant mild effect' in the literature. This year a girls father with the same mutation sought me out.

We have started a website for those of us with our mutation. We are trying to amass enough individuals from across the world to get a good representative sampling. THere is a doctor in the UK who is interested in studying us and writing research papers on us if we can get enough of us gathered up.

We are doing this in the hopes of showing exactly what a wide variety of symptoms there can be for someone even with the same 'dominant mild mutation' and those diagnosed in their 20, 30, and later. Currently many doctors diagnose you as 'atypical' if you dont foot the bill they are used to thinking of but others are diagnosing 'atypical' if oyou are diagnosed as an adult.

SHould someone who only finds out they have CF due to a missing vas def in their 30's be treated the same as someone like me who was diagnosed in their 20's after years of problems? It is hard to know, there is NO data out there, the CFF has no guidelines and truly many doctors have no idea what to do with us.

I have at times felt like I wasnt receiving the most proactive care that I could because I was 'so healthy'. Our hope is that the CFF will address this in the coming years because as was mentioned there is such a variety of ways to address this issue and it is so sad that now that our technology has advanced enough to diagnose us some are still 'failling through the cracks' in the system and not being treated appropriately or perhaps even at all until they are 'sick enough' to meet the bill.

ANd for those who are interested there is a WIDE vary of presentations for those of us with P67L ranging from transplant list to a virtual lack of sypmtoms well into life.

 

[mom2lillian]

I have a mutation classified as 'atypical' with a 'dominant mild effect' in the literature. This year a girls father with the same mutation sought me out.

We have started a website for those of us with our mutation. We are trying to amass enough individuals from across the world to get a good representative sampling. THere is a doctor in the UK who is interested in studying us and writing research papers on us if we can get enough of us gathered up.

We are doing this in the hopes of showing exactly what a wide variety of symptoms there can be for someone even with the same 'dominant mild mutation' and those diagnosed in their 20, 30, and later. Currently many doctors diagnose you as 'atypical' if you dont foot the bill they are used to thinking of but others are diagnosing 'atypical' if oyou are diagnosed as an adult.

SHould someone who only finds out they have CF due to a missing vas def in their 30's be treated the same as someone like me who was diagnosed in their 20's after years of problems? It is hard to know, there is NO data out there, the CFF has no guidelines and truly many doctors have no idea what to do with us.

I have at times felt like I wasnt receiving the most proactive care that I could because I was 'so healthy'. Our hope is that the CFF will address this in the coming years because as was mentioned there is such a variety of ways to address this issue and it is so sad that now that our technology has advanced enough to diagnose us some are still 'failling through the cracks' in the system and not being treated appropriately or perhaps even at all until they are 'sick enough' to meet the bill.

ANd for those who are interested there is a WIDE vary of presentations for those of us with P67L ranging from transplant list to a virtual lack of sypmtoms well into life.

 

[mom2lillian]

I have a mutation classified as 'atypical' with a 'dominant mild effect' in the literature. This year a girls father with the same mutation sought me out.

We have started a website for those of us with our mutation. We are trying to amass enough individuals from across the world to get a good representative sampling. THere is a doctor in the UK who is interested in studying us and writing research papers on us if we can get enough of us gathered up.

We are doing this in the hopes of showing exactly what a wide variety of symptoms there can be for someone even with the same 'dominant mild mutation' and those diagnosed in their 20, 30, and later. Currently many doctors diagnose you as 'atypical' if you dont foot the bill they are used to thinking of but others are diagnosing 'atypical' if oyou are diagnosed as an adult.

SHould someone who only finds out they have CF due to a missing vas def in their 30's be treated the same as someone like me who was diagnosed in their 20's after years of problems? It is hard to know, there is NO data out there, the CFF has no guidelines and truly many doctors have no idea what to do with us.

I have at times felt like I wasnt receiving the most proactive care that I could because I was 'so healthy'. Our hope is that the CFF will address this in the coming years because as was mentioned there is such a variety of ways to address this issue and it is so sad that now that our technology has advanced enough to diagnose us some are still 'failling through the cracks' in the system and not being treated appropriately or perhaps even at all until they are 'sick enough' to meet the bill.

ANd for those who are interested there is a WIDE vary of presentations for those of us with P67L ranging from transplant list to a virtual lack of sypmtoms well into life.

 

[Sakem]

Sakasusi:

I find it funny that you describe yourself as atypical in your signature line. Actually in the present time, I would say you are pretty typical of a 26 year old with CF. 6 IVs and resistent PA is pretty typical CF. After all you are still 10 years younger than the average life expectancy. There are several adults with CF doing as well or if not better than you nowdays, and I am sure as progress is made there will be plenty more that have less CF problems, until more into their 30s. Yeah there are still those severe CF cases, but for them, there are still cases that are mild, milder than yours.

I also find it funny that this thread had nothing to do w/ childhood classification of CF, but rather an adult who thought they are atypical and you wanted to bring parenting into this thread. But since you did....yes I do think a child born today with the right treatment and envoironment, can be atypical of the CF you were born into in the 80s. But then I guess it would not really be atypical, just CF as it is in todays time.

 

[Sakem]

Sakasusi:

I find it funny that you describe yourself as atypical in your signature line. Actually in the present time, I would say you are pretty typical of a 26 year old with CF. 6 IVs and resistent PA is pretty typical CF. After all you are still 10 years younger than the average life expectancy. There are several adults with CF doing as well or if not better than you nowdays, and I am sure as progress is made there will be plenty more that have less CF problems, until more into their 30s. Yeah there are still those severe CF cases, but for them, there are still cases that are mild, milder than yours.

I also find it funny that this thread had nothing to do w/ childhood classification of CF, but rather an adult who thought they are atypical and you wanted to bring parenting into this thread. But since you did....yes I do think a child born today with the right treatment and envoironment, can be atypical of the CF you were born into in the 80s. But then I guess it would not really be atypical, just CF as it is in todays time.

 

[Sakem]

Sakasusi:

I find it funny that you describe yourself as atypical in your signature line. Actually in the present time, I would say you are pretty typical of a 26 year old with CF. 6 IVs and resistent PA is pretty typical CF. After all you are still 10 years younger than the average life expectancy. There are several adults with CF doing as well or if not better than you nowdays, and I am sure as progress is made there will be plenty more that have less CF problems, until more into their 30s. Yeah there are still those severe CF cases, but for them, there are still cases that are mild, milder than yours.

I also find it funny that this thread had nothing to do w/ childhood classification of CF, but rather an adult who thought they are atypical and you wanted to bring parenting into this thread. But since you did....yes I do think a child born today with the right treatment and envoironment, can be atypical of the CF you were born into in the 80s. But then I guess it would not really be atypical, just CF as it is in todays time.

 

[Sakem]

Sakasusi:

I find it funny that you describe yourself as atypical in your signature line. Actually in the present time, I would say you are pretty typical of a 26 year old with CF. 6 IVs and resistent PA is pretty typical CF. After all you are still 10 years younger than the average life expectancy. There are several adults with CF doing as well or if not better than you nowdays, and I am sure as progress is made there will be plenty more that have less CF problems, until more into their 30s. Yeah there are still those severe CF cases, but for them, there are still cases that are mild, milder than yours.

I also find it funny that this thread had nothing to do w/ childhood classification of CF, but rather an adult who thought they are atypical and you wanted to bring parenting into this thread. But since you did....yes I do think a child born today with the right treatment and envoironment, can be atypical of the CF you were born into in the 80s. But then I guess it would not really be atypical, just CF as it is in todays time.

 

[Sakem]

Sakasusi:

I find it funny that you describe yourself as atypical in your signature line. Actually in the present time, I would say you are pretty typical of a 26 year old with CF. 6 IVs and resistent PA is pretty typical CF. After all you are still 10 years younger than the average life expectancy. There are several adults with CF doing as well or if not better than you nowdays, and I am sure as progress is made there will be plenty more that have less CF problems, until more into their 30s. Yeah there are still those severe CF cases, but for them, there are still cases that are mild, milder than yours.

I also find it funny that this thread had nothing to do w/ childhood classification of CF, but rather an adult who thought they are atypical and you wanted to bring parenting into this thread. But since you did....yes I do think a child born today with the right treatment and envoironment, can be atypical of the CF you were born into in the 80s. But then I guess it would not really be atypical, just CF as it is in todays time.

 

[Chaggie]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sakem</b></i>

Sakasusi:



I find it funny that you describe yourself as atypical in your signature line.</end quote></div>

It's sarcasm, I think you missed the second part of it.

 

[Chaggie]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sakem</b></i>

Sakasusi:



I find it funny that you describe yourself as atypical in your signature line.</end quote></div>

It's sarcasm, I think you missed the second part of it.

 

[Chaggie]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sakem</b></i>

Sakasusi:



I find it funny that you describe yourself as atypical in your signature line.</end quote></div>

It's sarcasm, I think you missed the second part of it.

 

[Chaggie]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sakem</b></i>

Sakasusi:



I find it funny that you describe yourself as atypical in your signature line.</end quote>

It's sarcasm, I think you missed the second part of it.

 

[Chaggie]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Sakem</b></i>

Sakasusi:



I find it funny that you describe yourself as atypical in your signature line.</end quote>

It's sarcasm, I think you missed the second part of it.

 

[wanderlost]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Pianist</b></i>

The only reason I say "atypical" is because when I asked my doctor a year ago about CF (because I noticed I had matching symptoms) he said you'd have clubbed fingers and you would've been very sick your whole life and would've died before you were 20.</end quote></div>

Well that's the thing. When I was born in 1977 the prognosis wasn't so good: life expectancy of 18: mist tents, PT, antibiotics, etc.

But I kep doing fine. Healthy as could be. So then the docs started saying I was "Mild" and "not the normal case" and we believed that -that I was somehow the lucky one.

Even when I had my gnene typing done and found I had Delta f508 and S549n I was told: well see, that one gene isn't very common, must be why you are so healthy.

Turns out both are class II mutations, so that second gene has nothing to do with why I was healthy. it was more good <i>other</i> genes and parents forcing me to be physically active and luck.

So my point is, I really agree with Amy that is misleading to say atypical as it gives a sense that perhaps that Cf doesn't need to be treated because it won't progress. Maybe it will, maybe it won't, but hate to find out too late if it does.

I wish that someone would have sat me down years ago and explained it to me in different terms instead of making me feel like my CF was "better" than everyone elses as it has been much harder to come to terms with as an adult.

as an aside, I do understand that there are a lot of adults being diagnosed these days and while an adult diagnosis is atypical (though less so now), the Cf isn't necessarily atypical, it just took longer to rear its (ugly) head.

 

[wanderlost]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Pianist</b></i>

The only reason I say "atypical" is because when I asked my doctor a year ago about CF (because I noticed I had matching symptoms) he said you'd have clubbed fingers and you would've been very sick your whole life and would've died before you were 20.</end quote></div>

Well that's the thing. When I was born in 1977 the prognosis wasn't so good: life expectancy of 18: mist tents, PT, antibiotics, etc.

But I kep doing fine. Healthy as could be. So then the docs started saying I was "Mild" and "not the normal case" and we believed that -that I was somehow the lucky one.

Even when I had my gnene typing done and found I had Delta f508 and S549n I was told: well see, that one gene isn't very common, must be why you are so healthy.

Turns out both are class II mutations, so that second gene has nothing to do with why I was healthy. it was more good <i>other</i> genes and parents forcing me to be physically active and luck.

So my point is, I really agree with Amy that is misleading to say atypical as it gives a sense that perhaps that Cf doesn't need to be treated because it won't progress. Maybe it will, maybe it won't, but hate to find out too late if it does.

I wish that someone would have sat me down years ago and explained it to me in different terms instead of making me feel like my CF was "better" than everyone elses as it has been much harder to come to terms with as an adult.

as an aside, I do understand that there are a lot of adults being diagnosed these days and while an adult diagnosis is atypical (though less so now), the Cf isn't necessarily atypical, it just took longer to rear its (ugly) head.

 

[wanderlost]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Pianist</b></i>

The only reason I say "atypical" is because when I asked my doctor a year ago about CF (because I noticed I had matching symptoms) he said you'd have clubbed fingers and you would've been very sick your whole life and would've died before you were 20.</end quote></div>

Well that's the thing. When I was born in 1977 the prognosis wasn't so good: life expectancy of 18: mist tents, PT, antibiotics, etc.

But I kep doing fine. Healthy as could be. So then the docs started saying I was "Mild" and "not the normal case" and we believed that -that I was somehow the lucky one.

Even when I had my gnene typing done and found I had Delta f508 and S549n I was told: well see, that one gene isn't very common, must be why you are so healthy.

Turns out both are class II mutations, so that second gene has nothing to do with why I was healthy. it was more good <i>other</i> genes and parents forcing me to be physically active and luck.

So my point is, I really agree with Amy that is misleading to say atypical as it gives a sense that perhaps that Cf doesn't need to be treated because it won't progress. Maybe it will, maybe it won't, but hate to find out too late if it does.

I wish that someone would have sat me down years ago and explained it to me in different terms instead of making me feel like my CF was "better" than everyone elses as it has been much harder to come to terms with as an adult.

as an aside, I do understand that there are a lot of adults being diagnosed these days and while an adult diagnosis is atypical (though less so now), the Cf isn't necessarily atypical, it just took longer to rear its (ugly) head.

 

[wanderlost]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Pianist</b></i>

The only reason I say "atypical" is because when I asked my doctor a year ago about CF (because I noticed I had matching symptoms) he said you'd have clubbed fingers and you would've been very sick your whole life and would've died before you were 20.</end quote>

Well that's the thing. When I was born in 1977 the prognosis wasn't so good: life expectancy of 18: mist tents, PT, antibiotics, etc.

But I kep doing fine. Healthy as could be. So then the docs started saying I was "Mild" and "not the normal case" and we believed that -that I was somehow the lucky one.

Even when I had my gnene typing done and found I had Delta f508 and S549n I was told: well see, that one gene isn't very common, must be why you are so healthy.

Turns out both are class II mutations, so that second gene has nothing to do with why I was healthy. it was more good <i>other</i> genes and parents forcing me to be physically active and luck.

So my point is, I really agree with Amy that is misleading to say atypical as it gives a sense that perhaps that Cf doesn't need to be treated because it won't progress. Maybe it will, maybe it won't, but hate to find out too late if it does.

I wish that someone would have sat me down years ago and explained it to me in different terms instead of making me feel like my CF was "better" than everyone elses as it has been much harder to come to terms with as an adult.

as an aside, I do understand that there are a lot of adults being diagnosed these days and while an adult diagnosis is atypical (though less so now), the Cf isn't necessarily atypical, it just took longer to rear its (ugly) head.

 

[wanderlost]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Pianist</b></i>

The only reason I say "atypical" is because when I asked my doctor a year ago about CF (because I noticed I had matching symptoms) he said you'd have clubbed fingers and you would've been very sick your whole life and would've died before you were 20.</end quote>

Well that's the thing. When I was born in 1977 the prognosis wasn't so good: life expectancy of 18: mist tents, PT, antibiotics, etc.

But I kep doing fine. Healthy as could be. So then the docs started saying I was "Mild" and "not the normal case" and we believed that -that I was somehow the lucky one.

Even when I had my gnene typing done and found I had Delta f508 and S549n I was told: well see, that one gene isn't very common, must be why you are so healthy.

Turns out both are class II mutations, so that second gene has nothing to do with why I was healthy. it was more good <i>other</i> genes and parents forcing me to be physically active and luck.

So my point is, I really agree with Amy that is misleading to say atypical as it gives a sense that perhaps that Cf doesn't need to be treated because it won't progress. Maybe it will, maybe it won't, but hate to find out too late if it does.

I wish that someone would have sat me down years ago and explained it to me in different terms instead of making me feel like my CF was "better" than everyone elses as it has been much harder to come to terms with as an adult.

as an aside, I do understand that there are a lot of adults being diagnosed these days and while an adult diagnosis is atypical (though less so now), the Cf isn't necessarily atypical, it just took longer to rear its (ugly) head.