Diagnosed at age 50

[Simba15]

Thanks. Yes it is the R334W that is rare. My pulmonologist has consutled with the CF center at Yale. Quite frankly i am not impressed with Yale at all. I am impressed with my doctor who works at yale. the R334W is what is throughing them all for a loop. Really there are only a few of us in the country?
<br />
<br />I am not a carrier. I have CF. I am glad to see i am not alone. I will IM the CT person who posted here. Thank you.

 

[Ratatosk]

At least with a definitive diagnosis, they'll be able to identify the bugs you may be culturing via a sputum sample at regular CF clinic appointments and treat them accordingly. When the culture results come back, it'll indicate what antibiotic the bugs are sensitive to. Some people with more extensive sinus issues use a sinus nebulizer or use antibiotic sinus rinses, too.

 

[Ratatosk]

At least with a definitive diagnosis, they'll be able to identify the bugs you may be culturing via a sputum sample at regular CF clinic appointments and treat them accordingly. When the culture results come back, it'll indicate what antibiotic the bugs are sensitive to. Some people with more extensive sinus issues use a sinus nebulizer or use antibiotic sinus rinses, too.

 

[Ratatosk]

At least with a definitive diagnosis, they'll be able to identify the bugs you may be culturing via a sputum sample at regular CF clinic appointments and treat them accordingly. When the culture results come back, it'll indicate what antibiotic the bugs are sensitive to. Some people with more extensive sinus issues use a sinus nebulizer or use antibiotic sinus rinses, too.

 

[hmw]

If you aren't impressed with Yale, I'd encourage you to to give Hartford's center a try. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I take my daughter to the ped side of the clinic up there and can't say enough good things about them. There is another member here who also goes to Hartford's adult clinic and I believe she is quite happy with her care (she has known the dr she sees there for a long time.) I'll message her and direct her to this thread.

Wishing you the best for improved health now that you know what you are dealing with... appropriate treatment goes a lonnnng way!

 

[hmw]

If you aren't impressed with Yale, I'd encourage you to to give Hartford's center a try. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I take my daughter to the ped side of the clinic up there and can't say enough good things about them. There is another member here who also goes to Hartford's adult clinic and I believe she is quite happy with her care (she has known the dr she sees there for a long time.) I'll message her and direct her to this thread.

Wishing you the best for improved health now that you know what you are dealing with... appropriate treatment goes a lonnnng way!

 

[hmw]

If you aren't impressed with Yale, I'd encourage you to to give Hartford's center a try. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I take my daughter to the ped side of the clinic up there and can't say enough good things about them. There is another member here who also goes to Hartford's adult clinic and I believe she is quite happy with her care (she has known the dr she sees there for a long time.) I'll message her and direct her to this thread.
<br />
<br />Wishing you the best for improved health now that you know what you are dealing with... appropriate treatment goes a lonnnng way!

 

[LouLou]

Hi everyone! I am Lauren 32 with cf. DF508 and G551D. I followed Dr. McArdle from Yale to Hartford along with 30 (I believe) of his patients from Yale. I have not been in-patient at either hospital but I believe I will be much happier at Hartford for many reasons.

He is a wonderful doctor. I have lived in 9 states and been seen at over a dozen clinics and I can say Dr. McArdle is very thorough, has excellent bedside manners, very knowledgeable about research, cutting edge with his treatment plans yet bases everything on a rigorous, methodical approach, patient, caring, good at explaining things and optimistic! Having all of these traits makes him one in a hundred in the cf doctor world.


Dr. Knauft and Dr. Pope are also with this practice are wonderful too. Even if you decide to stay at Yale I would head to Hartford for a consult if for nothing else just to see what is around the corner as a care option for you as well as to build your breadth of knowledge. I find I learn something new about cf at every appt practically & I've been living this disease for 30+ years.

I was diagnosed in 1980 at the age of 30 months.

 

[LouLou]

Hi everyone! I am Lauren 32 with cf. DF508 and G551D. I followed Dr. McArdle from Yale to Hartford along with 30 (I believe) of his patients from Yale. I have not been in-patient at either hospital but I believe I will be much happier at Hartford for many reasons.

He is a wonderful doctor. I have lived in 9 states and been seen at over a dozen clinics and I can say Dr. McArdle is very thorough, has excellent bedside manners, very knowledgeable about research, cutting edge with his treatment plans yet bases everything on a rigorous, methodical approach, patient, caring, good at explaining things and optimistic! Having all of these traits makes him one in a hundred in the cf doctor world.


Dr. Knauft and Dr. Pope are also with this practice are wonderful too. Even if you decide to stay at Yale I would head to Hartford for a consult if for nothing else just to see what is around the corner as a care option for you as well as to build your breadth of knowledge. I find I learn something new about cf at every appt practically & I've been living this disease for 30+ years.

I was diagnosed in 1980 at the age of 30 months.

 

[LouLou]

Hi everyone! I am Lauren 32 with cf. DF508 and G551D. I followed Dr. McArdle from Yale to Hartford along with 30 (I believe) of his patients from Yale. I have not been in-patient at either hospital but I believe I will be much happier at Hartford for many reasons.
<br />
<br />He is a wonderful doctor. I have lived in 9 states and been seen at over a dozen clinics and I can say Dr. McArdle is very thorough, has excellent bedside manners, very knowledgeable about research, cutting edge with his treatment plans yet bases everything on a rigorous, methodical approach, patient, caring, good at explaining things and optimistic! Having all of these traits makes him one in a hundred in the cf doctor world.
<br />
<br />
<br />Dr. Knauft and Dr. Pope are also with this practice are wonderful too. Even if you decide to stay at Yale I would head to Hartford for a consult if for nothing else just to see what is around the corner as a care option for you as well as to build your breadth of knowledge. I find I learn something new about cf at every appt practically & I've been living this disease for 30+ years.
<br />
<br />I was diagnosed in 1980 at the age of 30 months.

 

[vivsmom]

Lauren,
Thank you for confirming what I said earlier about Hartford Hospital. Dr Pope is my physician and is absolutely wonderful. He thought "outside the box" after my condition perplexed him the past couple years. I was hospitalized the end of March with a bacteria that was highly resistant to antibiotics. During that time, he ordered the genetic test.

I am so very excited to go to my first clinic tomorrow. I've read a lot and have started on new medications but I am looking forward to learning more.
Karen
diagnosed at 55, F508 and A347 mutations

 

[vivsmom]

Lauren,
Thank you for confirming what I said earlier about Hartford Hospital. Dr Pope is my physician and is absolutely wonderful. He thought "outside the box" after my condition perplexed him the past couple years. I was hospitalized the end of March with a bacteria that was highly resistant to antibiotics. During that time, he ordered the genetic test.

I am so very excited to go to my first clinic tomorrow. I've read a lot and have started on new medications but I am looking forward to learning more.
Karen
diagnosed at 55, F508 and A347 mutations

 

[vivsmom]

Lauren,
<br />Thank you for confirming what I said earlier about Hartford Hospital. Dr Pope is my physician and is absolutely wonderful. He thought "outside the box" after my condition perplexed him the past couple years. I was hospitalized the end of March with a bacteria that was highly resistant to antibiotics. During that time, he ordered the genetic test.
<br />
<br />I am so very excited to go to my first clinic tomorrow. I've read a lot and have started on new medications but I am looking forward to learning more.
<br />Karen
<br /> diagnosed at 55, F508 and A347 mutations

 

[twodogstudio2]

Apparenty there are 141 registered CF patients worldwide with that mutation. This is out of 45000 CF patients registered. Pretty rare. It is a class 4 mutation which allows for the production of correct mRNA but limits the amount of it that can be active at the cell surface. But it is not so rare as to not be included in most CF mutation screening panels. Good luck to you and I hope now that they know what is going on they can help with your health going forward.

 

[twodogstudio2]

Apparenty there are 141 registered CF patients worldwide with that mutation. This is out of 45000 CF patients registered. Pretty rare. It is a class 4 mutation which allows for the production of correct mRNA but limits the amount of it that can be active at the cell surface. But it is not so rare as to not be included in most CF mutation screening panels. Good luck to you and I hope now that they know what is going on they can help with your health going forward.

 

[twodogstudio2]

Apparenty there are 141 registered CF patients worldwide with that mutation. This is out of 45000 CF patients registered. Pretty rare. It is a class 4 mutation which allows for the production of correct mRNA but limits the amount of it that can be active at the cell surface. But it is not so rare as to not be included in most CF mutation screening panels. Good luck to you and I hope now that they know what is going on they can help with your health going forward.

 

[kgfrompa]

Hi I also was diagnosed at the age of 50 I am now 55. I have rare mutations 3849+10kbC>T R66BC. I to am sick more often than feeling good and have very limted energy. But I think for me its better to know what is wrong with me than to not know

 

[kgfrompa]

Hi I also was diagnosed at the age of 50 I am now 55. I have rare mutations 3849+10kbC>T R66BC. I to am sick more often than feeling good and have very limted energy. But I think for me its better to know what is wrong with me than to not know

 

[kgfrompa]

Hi I also was diagnosed at the age of 50 I am now 55. I have rare mutations 3849+10kbC>T R66BC. I to am sick more often than feeling good and have very limted energy. But I think for me its better to know what is wrong with me than to not know

 

[Simba15]

OMG!!!! Twp dogs where did you find this info?

Apparenty there are 141 registered CF patients worldwide with that mutation. This is out of 45000 CF patients registered. Pretty rare. It is a class 4 mutation which allows for the production of correct mRNA but limits the amount of it that can be active at the cell surface. But it is not so rare as to not be included in most CF mutation screening panels. Good luck to you and I hope now that they know what is going on they can help with your health going forward.