Questions about adult diagnosis

beleache · Jul 13, 2008

Hi Sarah and welcome to the site..

I was dxd at 44 y/o, my sister ws 50 y/o when we got dxd..

I would just like to say that your allergist sounds amazing.. So many drs have their heads up their butts but yours seems on the ball. Sounds like a keeper to me.

I don't have anymore to add, just want to welcome you and i hope your puzzle gets figured out soon.

Take care and keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0"> joni

beleache · Jul 13, 2008

Hi Sarah and welcome to the site..

I was dxd at 44 y/o, my sister ws 50 y/o when we got dxd..

I would just like to say that your allergist sounds amazing.. So many drs have their heads up their butts but yours seems on the ball. Sounds like a keeper to me.

I don't have anymore to add, just want to welcome you and i hope your puzzle gets figured out soon.

Take care and keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0"> joni

beleache · Jul 13, 2008

Hi Sarah and welcome to the site..

I was dxd at 44 y/o, my sister ws 50 y/o when we got dxd..

I would just like to say that your allergist sounds amazing.. So many drs have their heads up their butts but yours seems on the ball. Sounds like a keeper to me.

I don't have anymore to add, just want to welcome you and i hope your puzzle gets figured out soon.

Take care and keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0"> joni

beleache · Jul 13, 2008

Hi Sarah and welcome to the site..

I was dxd at 44 y/o, my sister ws 50 y/o when we got dxd..

I would just like to say that your allergist sounds amazing.. So many drs have their heads up their butts but yours seems on the ball. Sounds like a keeper to me.

I don't have anymore to add, just want to welcome you and i hope your puzzle gets figured out soon.

Take care and keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0"> joni

beleache · Jul 13, 2008

Hi Sarah and welcome to the site..
 
 I was dxd at 44 y/o, my sister ws 50 y/o when we got dxd..
 
 I would just like to say that your allergist sounds amazing.. So many drs have their heads up their butts but yours seems on the ball. Sounds like a keeper to me.
 
 I don't have anymore to add, just want to welcome you and i hope your puzzle gets figured out soon.
 
 Take care and keep us posted. <img src="i/expressions/face-icon-small-smile.gif" border="0"> joni

mom2lillian · Jul 13, 2008

Sarah-if it is of any help/consulation I was diagnosed by symptoms so that is possible too. Even if they are not sure whether it is CF or not they progress more every year so for instance when I was diagnosed it was by symptoms as they could not even detect my 2nd mutation but now they can and have *proved* I have CF. Thus I guess what I am trying to say is if you found out you had CF by accident and enver had a symptom then maybe that would be one thing but you are symptomatic and thus I say it doesnt matter if its black or white as to what this mutation combo does it is based on your personal case.

I also think this doc sounds great.

Additionally, the 2nd mutation I have P67L is one that infers a 'dominant mild effect' according to the literature. Those of us with this mutation get SUCH variability as to recommendations and most docs are really at a loss as to how to treat those of us adult dx that dont fit the norm. So we have made a website and are helping to amass data and folks with this mutation. We have found some docs who would like to study us a bit. Our hope is that they will discover more about our mutation that might be helpful but moreso that we can show the wide array of possibilities associated with one mutation and that doctors will have some sort guidance as to treatment of those who present atypically.

I urge you not to discount being diagnosed even if it is an option. Perhaps you will get away for 10 more years without issue but with proper treatment you can extend that amount of time. Perhaps the best idea is to just read around here a bit and see what you decide, only you know your case best.

good luck

mom2lillian · Jul 13, 2008

Sarah-if it is of any help/consulation I was diagnosed by symptoms so that is possible too. Even if they are not sure whether it is CF or not they progress more every year so for instance when I was diagnosed it was by symptoms as they could not even detect my 2nd mutation but now they can and have *proved* I have CF. Thus I guess what I am trying to say is if you found out you had CF by accident and enver had a symptom then maybe that would be one thing but you are symptomatic and thus I say it doesnt matter if its black or white as to what this mutation combo does it is based on your personal case.

I also think this doc sounds great.

Additionally, the 2nd mutation I have P67L is one that infers a 'dominant mild effect' according to the literature. Those of us with this mutation get SUCH variability as to recommendations and most docs are really at a loss as to how to treat those of us adult dx that dont fit the norm. So we have made a website and are helping to amass data and folks with this mutation. We have found some docs who would like to study us a bit. Our hope is that they will discover more about our mutation that might be helpful but moreso that we can show the wide array of possibilities associated with one mutation and that doctors will have some sort guidance as to treatment of those who present atypically.

I urge you not to discount being diagnosed even if it is an option. Perhaps you will get away for 10 more years without issue but with proper treatment you can extend that amount of time. Perhaps the best idea is to just read around here a bit and see what you decide, only you know your case best.

good luck

mom2lillian · Jul 13, 2008

Sarah-if it is of any help/consulation I was diagnosed by symptoms so that is possible too. Even if they are not sure whether it is CF or not they progress more every year so for instance when I was diagnosed it was by symptoms as they could not even detect my 2nd mutation but now they can and have *proved* I have CF. Thus I guess what I am trying to say is if you found out you had CF by accident and enver had a symptom then maybe that would be one thing but you are symptomatic and thus I say it doesnt matter if its black or white as to what this mutation combo does it is based on your personal case.

I also think this doc sounds great.

Additionally, the 2nd mutation I have P67L is one that infers a 'dominant mild effect' according to the literature. Those of us with this mutation get SUCH variability as to recommendations and most docs are really at a loss as to how to treat those of us adult dx that dont fit the norm. So we have made a website and are helping to amass data and folks with this mutation. We have found some docs who would like to study us a bit. Our hope is that they will discover more about our mutation that might be helpful but moreso that we can show the wide array of possibilities associated with one mutation and that doctors will have some sort guidance as to treatment of those who present atypically.

I urge you not to discount being diagnosed even if it is an option. Perhaps you will get away for 10 more years without issue but with proper treatment you can extend that amount of time. Perhaps the best idea is to just read around here a bit and see what you decide, only you know your case best.

good luck

mom2lillian · Jul 13, 2008

Sarah-if it is of any help/consulation I was diagnosed by symptoms so that is possible too. Even if they are not sure whether it is CF or not they progress more every year so for instance when I was diagnosed it was by symptoms as they could not even detect my 2nd mutation but now they can and have *proved* I have CF. Thus I guess what I am trying to say is if you found out you had CF by accident and enver had a symptom then maybe that would be one thing but you are symptomatic and thus I say it doesnt matter if its black or white as to what this mutation combo does it is based on your personal case.

I also think this doc sounds great.

Additionally, the 2nd mutation I have P67L is one that infers a 'dominant mild effect' according to the literature. Those of us with this mutation get SUCH variability as to recommendations and most docs are really at a loss as to how to treat those of us adult dx that dont fit the norm. So we have made a website and are helping to amass data and folks with this mutation. We have found some docs who would like to study us a bit. Our hope is that they will discover more about our mutation that might be helpful but moreso that we can show the wide array of possibilities associated with one mutation and that doctors will have some sort guidance as to treatment of those who present atypically.

I urge you not to discount being diagnosed even if it is an option. Perhaps you will get away for 10 more years without issue but with proper treatment you can extend that amount of time. Perhaps the best idea is to just read around here a bit and see what you decide, only you know your case best.

good luck

mom2lillian · Jul 13, 2008

Sarah-if it is of any help/consulation I was diagnosed by symptoms so that is possible too. Even if they are not sure whether it is CF or not they progress more every year so for instance when I was diagnosed it was by symptoms as they could not even detect my 2nd mutation but now they can and have *proved* I have CF. Thus I guess what I am trying to say is if you found out you had CF by accident and enver had a symptom then maybe that would be one thing but you are symptomatic and thus I say it doesnt matter if its black or white as to what this mutation combo does it is based on your personal case.
 
 I also think this doc sounds great.
 
 Additionally, the 2nd mutation I have P67L is one that infers a 'dominant mild effect' according to the literature. Those of us with this mutation get SUCH variability as to recommendations and most docs are really at a loss as to how to treat those of us adult dx that dont fit the norm. So we have made a website and are helping to amass data and folks with this mutation. We have found some docs who would like to study us a bit. Our hope is that they will discover more about our mutation that might be helpful but moreso that we can show the wide array of possibilities associated with one mutation and that doctors will have some sort guidance as to treatment of those who present atypically.
 
 I urge you not to discount being diagnosed even if it is an option. Perhaps you will get away for 10 more years without issue but with proper treatment you can extend that amount of time. Perhaps the best idea is to just read around here a bit and see what you decide, only you know your case best.
 
 good luck

smccanl · Jul 13, 2008

Yes, my allergist is a keeper! She's the first doctor I've ever been to who looked at the big picture of my history and suggested there might be an explanation for it. Thanks for responding; I will keep you all posted when I hear more.

smccanl · Jul 13, 2008

Yes, my allergist is a keeper! She's the first doctor I've ever been to who looked at the big picture of my history and suggested there might be an explanation for it. Thanks for responding; I will keep you all posted when I hear more.

smccanl · Jul 13, 2008

Yes, my allergist is a keeper! She's the first doctor I've ever been to who looked at the big picture of my history and suggested there might be an explanation for it. Thanks for responding; I will keep you all posted when I hear more.

smccanl · Jul 13, 2008

Yes, my allergist is a keeper! She's the first doctor I've ever been to who looked at the big picture of my history and suggested there might be an explanation for it. Thanks for responding; I will keep you all posted when I hear more.

smccanl · Jul 13, 2008

Yes, my allergist is a keeper! She's the first doctor I've ever been to who looked at the big picture of my history and suggested there might be an explanation for it. Thanks for responding; I will keep you all posted when I hear more.

DarbSkull · Jul 13, 2008