this just keeps dragging on....

[mikejw]

so i guess this started last novemeber, when my neurologist noticed i had clubbed fingers and told me i should get them checked out. So I did, had an endocardiogram and chest x-ray around that time, both came back perfectly normal.

so i let it slide a few months, and then i got the urge delve deeper, was just staring at my fingers for too long i guess.. Somewhere during that time I started thinking maybe cystic fibrosis... The thing is I'm 21, I was a college athlete (and in endurance sport nonetheless), and beyond sinus problems Ive never really had any lung issues. Ive actually been somewhat healthy. Now though, everyones telling me. "everyones cf is different." I mean, I am an ashkinaze jew, and I do have clubbed fingers, and I do have sinus issues, so i wouldnt be surprised if I did have it, but its just taking forever to find out. I just dont know what to do with myself.

some results:

-first sweat test was a 36, initially i was told that was a normal result, but hey doctors are bloody morons. two days ago my pulmonologist calls me and says now, eh, 36 is somewhat elevated for an adult (ha they dont tell u that the the under 40 thing is only normal for children!).... and yes i can feel the salt on my skin when im really sweating.

-pulmonary function test, apparently i did pretty well on this one, 109% on the diffusion thingy and more than 8 liters of volume. so my lungs, i guess are somewhat ok. great...

-other tests... well they took 3 vials of blood from me more than a week ago and a sputum sample... so far ive yet to hear anything on these. this tuesday I have a ct scan on my lungs, and wednesday I meet with my pulmonologist again, o and on monday or tuesday i go to get a dna screening. i argued for the full panel, but no dice. i really hate doctors. I just wish i could get an answer already.

 

[mikejw]

so i guess this started last novemeber, when my neurologist noticed i had clubbed fingers and told me i should get them checked out. So I did, had an endocardiogram and chest x-ray around that time, both came back perfectly normal.

so i let it slide a few months, and then i got the urge delve deeper, was just staring at my fingers for too long i guess.. Somewhere during that time I started thinking maybe cystic fibrosis... The thing is I'm 21, I was a college athlete (and in endurance sport nonetheless), and beyond sinus problems Ive never really had any lung issues. Ive actually been somewhat healthy. Now though, everyones telling me. "everyones cf is different." I mean, I am an ashkinaze jew, and I do have clubbed fingers, and I do have sinus issues, so i wouldnt be surprised if I did have it, but its just taking forever to find out. I just dont know what to do with myself.

some results:

-first sweat test was a 36, initially i was told that was a normal result, but hey doctors are bloody morons. two days ago my pulmonologist calls me and says now, eh, 36 is somewhat elevated for an adult (ha they dont tell u that the the under 40 thing is only normal for children!).... and yes i can feel the salt on my skin when im really sweating.

-pulmonary function test, apparently i did pretty well on this one, 109% on the diffusion thingy and more than 8 liters of volume. so my lungs, i guess are somewhat ok. great...

-other tests... well they took 3 vials of blood from me more than a week ago and a sputum sample... so far ive yet to hear anything on these. this tuesday I have a ct scan on my lungs, and wednesday I meet with my pulmonologist again, o and on monday or tuesday i go to get a dna screening. i argued for the full panel, but no dice. i really hate doctors. I just wish i could get an answer already.

 

[mikejw]

so i guess this started last novemeber, when my neurologist noticed i had clubbed fingers and told me i should get them checked out. So I did, had an endocardiogram and chest x-ray around that time, both came back perfectly normal.

so i let it slide a few months, and then i got the urge delve deeper, was just staring at my fingers for too long i guess.. Somewhere during that time I started thinking maybe cystic fibrosis... The thing is I'm 21, I was a college athlete (and in endurance sport nonetheless), and beyond sinus problems Ive never really had any lung issues. Ive actually been somewhat healthy. Now though, everyones telling me. "everyones cf is different." I mean, I am an ashkinaze jew, and I do have clubbed fingers, and I do have sinus issues, so i wouldnt be surprised if I did have it, but its just taking forever to find out. I just dont know what to do with myself.

some results:

-first sweat test was a 36, initially i was told that was a normal result, but hey doctors are bloody morons. two days ago my pulmonologist calls me and says now, eh, 36 is somewhat elevated for an adult (ha they dont tell u that the the under 40 thing is only normal for children!).... and yes i can feel the salt on my skin when im really sweating.

-pulmonary function test, apparently i did pretty well on this one, 109% on the diffusion thingy and more than 8 liters of volume. so my lungs, i guess are somewhat ok. great...

-other tests... well they took 3 vials of blood from me more than a week ago and a sputum sample... so far ive yet to hear anything on these. this tuesday I have a ct scan on my lungs, and wednesday I meet with my pulmonologist again, o and on monday or tuesday i go to get a dna screening. i argued for the full panel, but no dice. i really hate doctors. I just wish i could get an answer already.

 

[mikejw]

so i guess this started last novemeber, when my neurologist noticed i had clubbed fingers and told me i should get them checked out. So I did, had an endocardiogram and chest x-ray around that time, both came back perfectly normal.

so i let it slide a few months, and then i got the urge delve deeper, was just staring at my fingers for too long i guess.. Somewhere during that time I started thinking maybe cystic fibrosis... The thing is I'm 21, I was a college athlete (and in endurance sport nonetheless), and beyond sinus problems Ive never really had any lung issues. Ive actually been somewhat healthy. Now though, everyones telling me. "everyones cf is different." I mean, I am an ashkinaze jew, and I do have clubbed fingers, and I do have sinus issues, so i wouldnt be surprised if I did have it, but its just taking forever to find out. I just dont know what to do with myself.

some results:

-first sweat test was a 36, initially i was told that was a normal result, but hey doctors are bloody morons. two days ago my pulmonologist calls me and says now, eh, 36 is somewhat elevated for an adult (ha they dont tell u that the the under 40 thing is only normal for children!).... and yes i can feel the salt on my skin when im really sweating.

-pulmonary function test, apparently i did pretty well on this one, 109% on the diffusion thingy and more than 8 liters of volume. so my lungs, i guess are somewhat ok. great...

-other tests... well they took 3 vials of blood from me more than a week ago and a sputum sample... so far ive yet to hear anything on these. this tuesday I have a ct scan on my lungs, and wednesday I meet with my pulmonologist again, o and on monday or tuesday i go to get a dna screening. i argued for the full panel, but no dice. i really hate doctors. I just wish i could get an answer already.

 

[mikejw]

so i guess this started last novemeber, when my neurologist noticed i had clubbed fingers and told me i should get them checked out. So I did, had an endocardiogram and chest x-ray around that time, both came back perfectly normal.

so i let it slide a few months, and then i got the urge delve deeper, was just staring at my fingers for too long i guess.. Somewhere during that time I started thinking maybe cystic fibrosis... The thing is I'm 21, I was a college athlete (and in endurance sport nonetheless), and beyond sinus problems Ive never really had any lung issues. Ive actually been somewhat healthy. Now though, everyones telling me. "everyones cf is different." I mean, I am an ashkinaze jew, and I do have clubbed fingers, and I do have sinus issues, so i wouldnt be surprised if I did have it, but its just taking forever to find out. I just dont know what to do with myself.

some results:

-first sweat test was a 36, initially i was told that was a normal result, but hey doctors are bloody morons. two days ago my pulmonologist calls me and says now, eh, 36 is somewhat elevated for an adult (ha they dont tell u that the the under 40 thing is only normal for children!).... and yes i can feel the salt on my skin when im really sweating.

-pulmonary function test, apparently i did pretty well on this one, 109% on the diffusion thingy and more than 8 liters of volume. so my lungs, i guess are somewhat ok. great...

-other tests... well they took 3 vials of blood from me more than a week ago and a sputum sample... so far ive yet to hear anything on these. this tuesday I have a ct scan on my lungs, and wednesday I meet with my pulmonologist again, o and on monday or tuesday i go to get a dna screening. i argued for the full panel, but no dice. i really hate doctors. I just wish i could get an answer already.

 

[mikejw]

so i guess this started last novemeber, when my neurologist noticed i had clubbed fingers and told me i should get them checked out. So I did, had an endocardiogram and chest x-ray around that time, both came back perfectly normal.

so i let it slide a few months, and then i got the urge delve deeper, was just staring at my fingers for too long i guess.. Somewhere during that time I started thinking maybe cystic fibrosis... The thing is I'm 21, I was a college athlete (and in endurance sport nonetheless), and beyond sinus problems Ive never really had any lung issues. Ive actually been somewhat healthy. Now though, everyones telling me. "everyones cf is different." I mean, I am an ashkinaze jew, and I do have clubbed fingers, and I do have sinus issues, so i wouldnt be surprised if I did have it, but its just taking forever to find out. I just dont know what to do with myself.

some results:

-first sweat test was a 36, initially i was told that was a normal result, but hey doctors are bloody morons. two days ago my pulmonologist calls me and says now, eh, 36 is somewhat elevated for an adult (ha they dont tell u that the the under 40 thing is only normal for children!).... and yes i can feel the salt on my skin when im really sweating.

-pulmonary function test, apparently i did pretty well on this one, 109% on the diffusion thingy and more than 8 liters of volume. so my lungs, i guess are somewhat ok. great...

-other tests... well they took 3 vials of blood from me more than a week ago and a sputum sample... so far ive yet to hear anything on these. this tuesday I have a ct scan on my lungs, and wednesday I meet with my pulmonologist again, o and on monday or tuesday i go to get a dna screening. i argued for the full panel, but no dice. i really hate doctors. I just wish i could get an answer already.

 

[okok]

From an article i read published in the peer reviewed journal Thorax, any sweat chloride above 30 for diagnositic purposes should be considered borderlne for all ages. (my daughters sweat test results said any sweat chloride over 30 was considered borderline for childern/infants) In that thorax article, they discussed diagnostic algorithms for cf and atypical CF was classified as having a sweat chloride between 30-60 AND only 1 organ involvement. I read another article which said that 23% of people with a sweat chloride over 30 had two CFTR mutations. I think the population used in that study was mostly kids though....

It sounds to me as if you are in good hands. Your doctors may not order the ambry test right away but if the other testing turns out negative i'm sure they will order ambry or quest sequencing and deletion/duplication analysis (they ought to anyway). It is pretty typical for them to start with cheaper panels since many insurance companys are unwilling to pay for the expensive genetic testing when they know that your mutations will most likely to show up on a cheaper test. If you are 100% ashkenaze jewish then i think something like 96% of mutations occuring within that population are covered by the more basic (ie cheaper) panels. If your genetic testing does end up negative, you should push them for the ambry amplified testing which should detect 99% of mutations for all ethnicities. It sounds to me though that your doctors are being pretty responisible and would probably do that even if you didn't push them.

Maybe someday the insurance companies will become more enlightened... I know how frustrating the waiting is. It really sucks. I wish i could tell you if you had CF but i can't. It does sound like that could be a possibility though and i am glad to hear the doctors are investigating it. Let us know how it goes. Good luck.

 

[okok]

From an article i read published in the peer reviewed journal Thorax, any sweat chloride above 30 for diagnositic purposes should be considered borderlne for all ages. (my daughters sweat test results said any sweat chloride over 30 was considered borderline for childern/infants) In that thorax article, they discussed diagnostic algorithms for cf and atypical CF was classified as having a sweat chloride between 30-60 AND only 1 organ involvement. I read another article which said that 23% of people with a sweat chloride over 30 had two CFTR mutations. I think the population used in that study was mostly kids though....

It sounds to me as if you are in good hands. Your doctors may not order the ambry test right away but if the other testing turns out negative i'm sure they will order ambry or quest sequencing and deletion/duplication analysis (they ought to anyway). It is pretty typical for them to start with cheaper panels since many insurance companys are unwilling to pay for the expensive genetic testing when they know that your mutations will most likely to show up on a cheaper test. If you are 100% ashkenaze jewish then i think something like 96% of mutations occuring within that population are covered by the more basic (ie cheaper) panels. If your genetic testing does end up negative, you should push them for the ambry amplified testing which should detect 99% of mutations for all ethnicities. It sounds to me though that your doctors are being pretty responisible and would probably do that even if you didn't push them.

Maybe someday the insurance companies will become more enlightened... I know how frustrating the waiting is. It really sucks. I wish i could tell you if you had CF but i can't. It does sound like that could be a possibility though and i am glad to hear the doctors are investigating it. Let us know how it goes. Good luck.

 

[okok]

From an article i read published in the peer reviewed journal Thorax, any sweat chloride above 30 for diagnositic purposes should be considered borderlne for all ages. (my daughters sweat test results said any sweat chloride over 30 was considered borderline for childern/infants) In that thorax article, they discussed diagnostic algorithms for cf and atypical CF was classified as having a sweat chloride between 30-60 AND only 1 organ involvement. I read another article which said that 23% of people with a sweat chloride over 30 had two CFTR mutations. I think the population used in that study was mostly kids though....

It sounds to me as if you are in good hands. Your doctors may not order the ambry test right away but if the other testing turns out negative i'm sure they will order ambry or quest sequencing and deletion/duplication analysis (they ought to anyway). It is pretty typical for them to start with cheaper panels since many insurance companys are unwilling to pay for the expensive genetic testing when they know that your mutations will most likely to show up on a cheaper test. If you are 100% ashkenaze jewish then i think something like 96% of mutations occuring within that population are covered by the more basic (ie cheaper) panels. If your genetic testing does end up negative, you should push them for the ambry amplified testing which should detect 99% of mutations for all ethnicities. It sounds to me though that your doctors are being pretty responisible and would probably do that even if you didn't push them.

Maybe someday the insurance companies will become more enlightened... I know how frustrating the waiting is. It really sucks. I wish i could tell you if you had CF but i can't. It does sound like that could be a possibility though and i am glad to hear the doctors are investigating it. Let us know how it goes. Good luck.

 

[okok]

From an article i read published in the peer reviewed journal Thorax, any sweat chloride above 30 for diagnositic purposes should be considered borderlne for all ages. (my daughters sweat test results said any sweat chloride over 30 was considered borderline for childern/infants) In that thorax article, they discussed diagnostic algorithms for cf and atypical CF was classified as having a sweat chloride between 30-60 AND only 1 organ involvement. I read another article which said that 23% of people with a sweat chloride over 30 had two CFTR mutations. I think the population used in that study was mostly kids though....

It sounds to me as if you are in good hands. Your doctors may not order the ambry test right away but if the other testing turns out negative i'm sure they will order ambry or quest sequencing and deletion/duplication analysis (they ought to anyway). It is pretty typical for them to start with cheaper panels since many insurance companys are unwilling to pay for the expensive genetic testing when they know that your mutations will most likely to show up on a cheaper test. If you are 100% ashkenaze jewish then i think something like 96% of mutations occuring within that population are covered by the more basic (ie cheaper) panels. If your genetic testing does end up negative, you should push them for the ambry amplified testing which should detect 99% of mutations for all ethnicities. It sounds to me though that your doctors are being pretty responisible and would probably do that even if you didn't push them.

Maybe someday the insurance companies will become more enlightened... I know how frustrating the waiting is. It really sucks. I wish i could tell you if you had CF but i can't. It does sound like that could be a possibility though and i am glad to hear the doctors are investigating it. Let us know how it goes. Good luck.

 

[okok]

From an article i read published in the peer reviewed journal Thorax, any sweat chloride above 30 for diagnositic purposes should be considered borderlne for all ages. (my daughters sweat test results said any sweat chloride over 30 was considered borderline for childern/infants) In that thorax article, they discussed diagnostic algorithms for cf and atypical CF was classified as having a sweat chloride between 30-60 AND only 1 organ involvement. I read another article which said that 23% of people with a sweat chloride over 30 had two CFTR mutations. I think the population used in that study was mostly kids though....

It sounds to me as if you are in good hands. Your doctors may not order the ambry test right away but if the other testing turns out negative i'm sure they will order ambry or quest sequencing and deletion/duplication analysis (they ought to anyway). It is pretty typical for them to start with cheaper panels since many insurance companys are unwilling to pay for the expensive genetic testing when they know that your mutations will most likely to show up on a cheaper test. If you are 100% ashkenaze jewish then i think something like 96% of mutations occuring within that population are covered by the more basic (ie cheaper) panels. If your genetic testing does end up negative, you should push them for the ambry amplified testing which should detect 99% of mutations for all ethnicities. It sounds to me though that your doctors are being pretty responisible and would probably do that even if you didn't push them.

Maybe someday the insurance companies will become more enlightened... I know how frustrating the waiting is. It really sucks. I wish i could tell you if you had CF but i can't. It does sound like that could be a possibility though and i am glad to hear the doctors are investigating it. Let us know how it goes. Good luck.

 

[okok]

From an article i read published in the peer reviewed journal Thorax, any sweat chloride above 30 for diagnositic purposes should be considered borderlne for all ages. (my daughters sweat test results said any sweat chloride over 30 was considered borderline for childern/infants) In that thorax article, they discussed diagnostic algorithms for cf and atypical CF was classified as having a sweat chloride between 30-60 AND only 1 organ involvement. I read another article which said that 23% of people with a sweat chloride over 30 had two CFTR mutations. I think the population used in that study was mostly kids though....

It sounds to me as if you are in good hands. Your doctors may not order the ambry test right away but if the other testing turns out negative i'm sure they will order ambry or quest sequencing and deletion/duplication analysis (they ought to anyway). It is pretty typical for them to start with cheaper panels since many insurance companys are unwilling to pay for the expensive genetic testing when they know that your mutations will most likely to show up on a cheaper test. If you are 100% ashkenaze jewish then i think something like 96% of mutations occuring within that population are covered by the more basic (ie cheaper) panels. If your genetic testing does end up negative, you should push them for the ambry amplified testing which should detect 99% of mutations for all ethnicities. It sounds to me though that your doctors are being pretty responisible and would probably do that even if you didn't push them.

Maybe someday the insurance companies will become more enlightened... I know how frustrating the waiting is. It really sucks. I wish i could tell you if you had CF but i can't. It does sound like that could be a possibility though and i am glad to hear the doctors are investigating it. Let us know how it goes. Good luck.

 

[chrissyd]

I hope you get your answers...Keep us posted!!

I was diagnosed at 21. I was dx'd with asthma and cronic broncitus as a child. My mom asked my dr about CF...he laughed at her. And said, "If she had it she would be dead or dying"

That was back in 77 though! My PFT's were above 100% up unbtil a few years ago,. and although the have significantly dropped (88% as of April) I'm still in good shape. (Not as good as I'd like, but I can't complain)

<img src="i/expressions/rose.gif" border="0">

 

[chrissyd]

I hope you get your answers...Keep us posted!!

I was diagnosed at 21. I was dx'd with asthma and cronic broncitus as a child. My mom asked my dr about CF...he laughed at her. And said, "If she had it she would be dead or dying"

That was back in 77 though! My PFT's were above 100% up unbtil a few years ago,. and although the have significantly dropped (88% as of April) I'm still in good shape. (Not as good as I'd like, but I can't complain)

<img src="i/expressions/rose.gif" border="0">

 

[chrissyd]

I hope you get your answers...Keep us posted!!

I was diagnosed at 21. I was dx'd with asthma and cronic broncitus as a child. My mom asked my dr about CF...he laughed at her. And said, "If she had it she would be dead or dying"

That was back in 77 though! My PFT's were above 100% up unbtil a few years ago,. and although the have significantly dropped (88% as of April) I'm still in good shape. (Not as good as I'd like, but I can't complain)

<img src="i/expressions/rose.gif" border="0">

 

[chrissyd]

I hope you get your answers...Keep us posted!!

I was diagnosed at 21. I was dx'd with asthma and cronic broncitus as a child. My mom asked my dr about CF...he laughed at her. And said, "If she had it she would be dead or dying"

That was back in 77 though! My PFT's were above 100% up unbtil a few years ago,. and although the have significantly dropped (88% as of April) I'm still in good shape. (Not as good as I'd like, but I can't complain)

<img src="i/expressions/rose.gif" border="0">

 

[chrissyd]

I hope you get your answers...Keep us posted!!

I was diagnosed at 21. I was dx'd with asthma and cronic broncitus as a child. My mom asked my dr about CF...he laughed at her. And said, "If she had it she would be dead or dying"

That was back in 77 though! My PFT's were above 100% up unbtil a few years ago,. and although the have significantly dropped (88% as of April) I'm still in good shape. (Not as good as I'd like, but I can't complain)

<img src="i/expressions/rose.gif" border="0">

 

[chrissyd]

I hope you get your answers...Keep us posted!!

I was diagnosed at 21. I was dx'd with asthma and cronic broncitus as a child. My mom asked my dr about CF...he laughed at her. And said, "If she had it she would be dead or dying"

That was back in 77 though! My PFT's were above 100% up unbtil a few years ago,. and although the have significantly dropped (88% as of April) I'm still in good shape. (Not as good as I'd like, but I can't complain)

<img src="i/expressions/rose.gif" border="0">

 

[mikejw]

well i got the results from a bunch of other tests

-a little more on the pfts, my doc said some of the curves were "kind of" concave so she wasnt sure about the test but it was probably normal

-had the ct scan, that looked ok, except again my doc was slightly suspicious because the bronchi were slightly large. she told me it could be normal though and i should have them check in a year or so for comparison.

-the blood tests all came back somewhat normal, tho one was a little high, the A.C.E. test, I got a 78, i think it indicated sarcoids or something, but the doc said she really doubted i had sarcoids, i dont know tho, i may follow up on that.

sputum test still processing and, the dna scren should come back in a week or so.... right now i just wait... oo and i also had my fertility tested and the results were good, so that was really good news.

 

[mikejw]

well i got the results from a bunch of other tests

-a little more on the pfts, my doc said some of the curves were "kind of" concave so she wasnt sure about the test but it was probably normal

-had the ct scan, that looked ok, except again my doc was slightly suspicious because the bronchi were slightly large. she told me it could be normal though and i should have them check in a year or so for comparison.

-the blood tests all came back somewhat normal, tho one was a little high, the A.C.E. test, I got a 78, i think it indicated sarcoids or something, but the doc said she really doubted i had sarcoids, i dont know tho, i may follow up on that.

sputum test still processing and, the dna scren should come back in a week or so.... right now i just wait... oo and i also had my fertility tested and the results were good, so that was really good news.