Diagnosed at age 50

just1more · Jun 18, 2011

Ok, Harriett's article cites at mutation rate of 4.9% and I found a study last year that put the rate in Chile of 3.3%; both citing a tie to Spanish descent.

Either way, likely there are several hundred patients with this mutation in the US. It's rarity is more likely tied to the relative lack of severity because there are many patients, like LTA, that just don't know they have the mutation.

just1more · Jun 18, 2011

Ok, Harriett's article cites at mutation rate of 4.9% and I found a study last year that put the rate in Chile of 3.3%; both citing a tie to Spanish descent.

Either way, likely there are several hundred patients with this mutation in the US. It's rarity is more likely tied to the relative lack of severity because there are many patients, like LTA, that just don't know they have the mutation.

just1more · Jun 18, 2011

Ok, Harriett's article cites at mutation rate of 4.9% and I found a study last year that put the rate in Chile of 3.3%; both citing a tie to Spanish descent.
 
 Either way, likely there are several hundred patients with this mutation in the US. It's rarity is more likely tied to the relative lack of severity because there are many patients, like LTA, that just don't know they have the mutation.

hmw · Jun 19, 2011

Actually, as the article states, it's worldwide prevalence is less than .1% (and this is the case for nearly all mutations, from mild to severe- only a small handful have higher prevalence) ...it's higher prevalence is only found in certain populations, as is seen with a few others. However, that really is neither here nor there... it's the mutation *this* member has, and hopefully the info given re. what kind and how it affects those that have it has been helpful. <img src="i/expressions/face-icon-small-smile.gif" border="0">

hmw · Jun 19, 2011

Actually, as the article states, it's worldwide prevalence is less than .1% (and this is the case for nearly all mutations, from mild to severe- only a small handful have higher prevalence) ...it's higher prevalence is only found in certain populations, as is seen with a few others. However, that really is neither here nor there... it's the mutation *this* member has, and hopefully the info given re. what kind and how it affects those that have it has been helpful. <img src="i/expressions/face-icon-small-smile.gif" border="0">

hmw · Jun 19, 2011

Actually, as the article states, it's worldwide prevalence is less than .1% (and this is the case for nearly all mutations, from mild to severe- only a small handful have higher prevalence) ...it's higher prevalence is only found in certain populations, as is seen with a few others. However, that really is neither here nor there... it's the mutation *this* member has, and hopefully the info given re. what kind and how it affects those that have it has been helpful. <img src="i/expressions/face-icon-small-smile.gif" border="0">

Simba15 · Jun 21, 2011

Thank you for this information! It seems my rarity is a good thing.

On another note I filled out FMLA papers and the director of HR immediately began harrassing me. The good thing is she did it in writing. I spoke to my lawyer who will jump in when needed but he advised me to write her back and cc her boss. he said if he got involved too early it would escalate it too fast. i am not happy at all at work...to be treated in such and uncaring manner. is it illegal...yes...but who wants to go thru the cr*p of documeting, watching your peas and q's and filing as law suit? don't get me wrong, i WILL do it if i have to but i have other things to think about ...like my health. if needed i will ask my doctor to write a letter to her boss. he seems like the kind of guy who would not mince words.

so basically it sounds like little is known about my mutation but that more people get dx older and the CF is not a "severe." what is PA? the article mentioned that.

Simba15 · Jun 21, 2011

Thank you for this information! It seems my rarity is a good thing.

On another note I filled out FMLA papers and the director of HR immediately began harrassing me. The good thing is she did it in writing. I spoke to my lawyer who will jump in when needed but he advised me to write her back and cc her boss. he said if he got involved too early it would escalate it too fast. i am not happy at all at work...to be treated in such and uncaring manner. is it illegal...yes...but who wants to go thru the cr*p of documeting, watching your peas and q's and filing as law suit? don't get me wrong, i WILL do it if i have to but i have other things to think about ...like my health. if needed i will ask my doctor to write a letter to her boss. he seems like the kind of guy who would not mince words.

so basically it sounds like little is known about my mutation but that more people get dx older and the CF is not a "severe." what is PA? the article mentioned that.

Simba15 · Jun 21, 2011

Thank you for this information! It seems my rarity is a good thing.
 
 On another note I filled out FMLA papers and the director of HR immediately began harrassing me. The good thing is she did it in writing. I spoke to my lawyer who will jump in when needed but he advised me to write her back and cc her boss. he said if he got involved too early it would escalate it too fast. i am not happy at all at work...to be treated in such and uncaring manner. is it illegal...yes...but who wants to go thru the cr*p of documeting, watching your peas and q's and filing as law suit? don't get me wrong, i WILL do it if i have to but i have other things to think about ...like my health. if needed i will ask my doctor to write a letter to her boss. he seems like the kind of guy who would not mince words.
 
 so basically it sounds like little is known about my mutation but that more people get dx older and the CF is not a "severe." what is PA? the article mentioned that.

Simba15 · Jun 21, 2011

oh and i broke 2 teeth from clenching my teeth - gee i wonder why! grrrr. >_<

Simba15 · Jun 21, 2011

oh and i broke 2 teeth from clenching my teeth - gee i wonder why! grrrr. >_<

Simba15 · Jun 21, 2011

oh and i broke 2 teeth from clenching my teeth - gee i wonder why! grrrr. >_<

hmw · Jun 21, 2011

PA= pseudomonas aeruginosa.

The lungs of those with CF can become colonized with many different pathogens. PA is the most common and most with CF eventually become colonized with it. Depending on your health at the time, it is treated with various combinations of antibiotics. Did you give a sputum culture at the time of your dx? If so, you will find out what bugs, if any, grew out and how the dr plans to treat them. If you have not given one yet, you should. Some bugs- like PA, are very specific to CF. Others, like staph, are not seen only in the lungs of those with CF but the diseased state of CF lungs provide an exceptionally hospitable environment for them to thrive and they cause much more of a problem than they would for the average person.

Yes, it appears your rare mutation is generally associated with a milder disease course. It must be noted that EVERY individual with this disease presents differently though, even those with the same mutation- so that is one reason the database is so valuable- they can get the information on everyone and see how they present. But there is so much variation. However, being able to go so long without a dx (even if ill quite often) does support a much milder course. I hope now that you KNOW, and can start treatment appropriate to those with cf, you can see health that is improved over what you've been going through.

I am sorry you are going through this trouble at work. I hope you can get things worked out without having to go to great lengths legally.

hmw · Jun 21, 2011

PA= pseudomonas aeruginosa.

The lungs of those with CF can become colonized with many different pathogens. PA is the most common and most with CF eventually become colonized with it. Depending on your health at the time, it is treated with various combinations of antibiotics. Did you give a sputum culture at the time of your dx? If so, you will find out what bugs, if any, grew out and how the dr plans to treat them. If you have not given one yet, you should. Some bugs- like PA, are very specific to CF. Others, like staph, are not seen only in the lungs of those with CF but the diseased state of CF lungs provide an exceptionally hospitable environment for them to thrive and they cause much more of a problem than they would for the average person.

Yes, it appears your rare mutation is generally associated with a milder disease course. It must be noted that EVERY individual with this disease presents differently though, even those with the same mutation- so that is one reason the database is so valuable- they can get the information on everyone and see how they present. But there is so much variation. However, being able to go so long without a dx (even if ill quite often) does support a much milder course. I hope now that you KNOW, and can start treatment appropriate to those with cf, you can see health that is improved over what you've been going through.

I am sorry you are going through this trouble at work. I hope you can get things worked out without having to go to great lengths legally.

hmw · Jun 21, 2011

PA= pseudomonas aeruginosa.
 
 The lungs of those with CF can become colonized with many different pathogens. PA is the most common and most with CF eventually become colonized with it. Depending on your health at the time, it is treated with various combinations of antibiotics. Did you give a sputum culture at the time of your dx? If so, you will find out what bugs, if any, grew out and how the dr plans to treat them. If you have not given one yet, you should. Some bugs- like PA, are very specific to CF. Others, like staph, are not seen only in the lungs of those with CF but the diseased state of CF lungs provide an exceptionally hospitable environment for them to thrive and they cause much more of a problem than they would for the average person.
 
 Yes, it appears your rare mutation is generally associated with a milder disease course. It must be noted that EVERY individual with this disease presents differently though, even those with the same mutation- so that is one reason the database is so valuable- they can get the information on everyone and see how they present. But there is so much variation. However, being able to go so long without a dx (even if ill quite often) does support a much milder course. I hope now that you KNOW, and can start treatment appropriate to those with cf, you can see health that is improved over what you've been going through.
 
 I am sorry you are going through this trouble at work. I hope you can get things worked out without having to go to great lengths legally.

Simba15 · Jun 22, 2011

Thank you. I did not give a sputum culture yet. How is that done? Do you have to cough up mucos? what if there is not to cough up? my entire life i could not cough up mucos. TONS comes out of my sinuses though. i see the doc in july.

does anyone think it is important to wear a medic altert bracelet?

Simba15 · Jun 22, 2011

Thank you. I did not give a sputum culture yet. How is that done? Do you have to cough up mucos? what if there is not to cough up? my entire life i could not cough up mucos. TONS comes out of my sinuses though. i see the doc in july.

does anyone think it is important to wear a medic altert bracelet?

Simba15 · Jun 22, 2011

Thank you. I did not give a sputum culture yet. How is that done? Do you have to cough up mucos? what if there is not to cough up? my entire life i could not cough up mucos. TONS comes out of my sinuses though. i see the doc in july.
 
 does anyone think it is important to wear a medic altert bracelet?

xin · Jun 23, 2011

<div class="FTQUOTE"><begin quote>Originally posted by: LTA

 Everything
I have read about my mutations is medical jargon and really i don't know
anything about it. If anyone can help, please do.

Thanks,
I have alot to read here.</end quote></div> I can't help, per se, but I can tell you that you and I share the same (known) mutations associated with CF. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Like you, I'm pancreatic sufficient. I'm 34, and I was diagnosed earlier this year. The only reason it was discovered was wife and I were having trouble making a baby. My urologist ordered test after test (all of which came back perfect), until we got to the CF test - voila! (I've got a whole thread on this, somewhere under the Newly Diagnosed section.) Although it's a shock, try not to be scared. Be thankful that you have a diagnosis, and that you can work with (competent) CF medical professionals going forward. Exercise the s--- out of your body, and don't give up. Buy yourself all the time you can by eating well and exercising often.

xin · Jun 23, 2011

<div class="FTQUOTE"><begin quote>Originally posted by: LTA

 Everything
I have read about my mutations is medical jargon and really i don't know
anything about it. If anyone can help, please do.

Thanks,
I have alot to read here.</end quote> I can't help, per se, but I can tell you that you and I share the same (known) mutations associated with CF. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Like you, I'm pancreatic sufficient. I'm 34, and I was diagnosed earlier this year. The only reason it was discovered was wife and I were having trouble making a baby. My urologist ordered test after test (all of which came back perfect), until we got to the CF test - voila! (I've got a whole thread on this, somewhere under the Newly Diagnosed section.) Although it's a shock, try not to be scared. Be thankful that you have a diagnosis, and that you can work with (competent) CF medical professionals going forward. Exercise the s--- out of your body, and don't give up. Buy yourself all the time you can by eating well and exercising often.

Diagnosed at age 50

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