Questions about adult diagnosis

M

mom2lillian

New member
I was diagnosed at 21 years of age, if you would like ot read regarding my diagnosis journey it is in my blog under 'my stuff' category.

I would urge you to be proactive with a therapy regimen and consider yourself TO have CF no matter what any doctor may say. If you are referred to a doc who wants to do a wait and see I woudl leave and go to another center for a 2nd opinion.

With your course thus far it seems likely that with a bit of routine maintenance and preventative care you will do very well.

I am now 28 years old and do very well, am married, work full time, and have 1 child.
 
M

mom2lillian

New member
I was diagnosed at 21 years of age, if you would like ot read regarding my diagnosis journey it is in my blog under 'my stuff' category.

I would urge you to be proactive with a therapy regimen and consider yourself TO have CF no matter what any doctor may say. If you are referred to a doc who wants to do a wait and see I woudl leave and go to another center for a 2nd opinion.

With your course thus far it seems likely that with a bit of routine maintenance and preventative care you will do very well.

I am now 28 years old and do very well, am married, work full time, and have 1 child.
 
M

mom2lillian

New member
I was diagnosed at 21 years of age, if you would like ot read regarding my diagnosis journey it is in my blog under 'my stuff' category.

I would urge you to be proactive with a therapy regimen and consider yourself TO have CF no matter what any doctor may say. If you are referred to a doc who wants to do a wait and see I woudl leave and go to another center for a 2nd opinion.

With your course thus far it seems likely that with a bit of routine maintenance and preventative care you will do very well.

I am now 28 years old and do very well, am married, work full time, and have 1 child.
 
M

mom2lillian

New member
I was diagnosed at 21 years of age, if you would like ot read regarding my diagnosis journey it is in my blog under 'my stuff' category.

I would urge you to be proactive with a therapy regimen and consider yourself TO have CF no matter what any doctor may say. If you are referred to a doc who wants to do a wait and see I woudl leave and go to another center for a 2nd opinion.

With your course thus far it seems likely that with a bit of routine maintenance and preventative care you will do very well.

I am now 28 years old and do very well, am married, work full time, and have 1 child.
 
M

mom2lillian

New member
I was diagnosed at 21 years of age, if you would like ot read regarding my diagnosis journey it is in my blog under 'my stuff' category.
<br />
<br />I would urge you to be proactive with a therapy regimen and consider yourself TO have CF no matter what any doctor may say. If you are referred to a doc who wants to do a wait and see I woudl leave and go to another center for a 2nd opinion.
<br />
<br />With your course thus far it seems likely that with a bit of routine maintenance and preventative care you will do very well.
<br />
<br />I am now 28 years old and do very well, am married, work full time, and have 1 child.
<br />
<br />
 
S

smccanl

New member
I picked up a hard copy of my lab results this morning and now I can see why my doctor sounded confused. I have ONE Cf mutation - G551D, and ONE CF variant, which is R75Q. This is not classified as an actual mutation and the lab interpretation says it could be a benign polymorphism or it could be a very mild CF mutation.

Looking through the archives here I see a couple of people who have gotten diagnoses based on a similar combination of R75Q plus a CF mutation, but I also see that Steve at Ambry has said that he does not consider it a disease-causing mutation.

I had no idea I would need a degree in genetics to figure out this diagnosis.

So I guess I am in limbo. It seems totally arbitrary at this point - like the CF guy will decide one way or the other whether this is my diagnosis, but really nobody knows? I can't say I'd be thrilled to have CF, but I would like to get an answer one way or the other. My allergist's other big idea was to get tested for primary ciliary dyskinesia, which seems even more unlikely to me and no better a diagnosis, so at this point I can't even hope one way or the other.

If anyone knows anything about this CF variant, please let me know.

(By the way, the test doesn't even determine whether they are on the same chromosome or not. That's really a big help, huh?)

Sarah
 
S

smccanl

New member
I picked up a hard copy of my lab results this morning and now I can see why my doctor sounded confused. I have ONE Cf mutation - G551D, and ONE CF variant, which is R75Q. This is not classified as an actual mutation and the lab interpretation says it could be a benign polymorphism or it could be a very mild CF mutation.

Looking through the archives here I see a couple of people who have gotten diagnoses based on a similar combination of R75Q plus a CF mutation, but I also see that Steve at Ambry has said that he does not consider it a disease-causing mutation.

I had no idea I would need a degree in genetics to figure out this diagnosis.

So I guess I am in limbo. It seems totally arbitrary at this point - like the CF guy will decide one way or the other whether this is my diagnosis, but really nobody knows? I can't say I'd be thrilled to have CF, but I would like to get an answer one way or the other. My allergist's other big idea was to get tested for primary ciliary dyskinesia, which seems even more unlikely to me and no better a diagnosis, so at this point I can't even hope one way or the other.

If anyone knows anything about this CF variant, please let me know.

(By the way, the test doesn't even determine whether they are on the same chromosome or not. That's really a big help, huh?)

Sarah
 
S

smccanl

New member
I picked up a hard copy of my lab results this morning and now I can see why my doctor sounded confused. I have ONE Cf mutation - G551D, and ONE CF variant, which is R75Q. This is not classified as an actual mutation and the lab interpretation says it could be a benign polymorphism or it could be a very mild CF mutation.

Looking through the archives here I see a couple of people who have gotten diagnoses based on a similar combination of R75Q plus a CF mutation, but I also see that Steve at Ambry has said that he does not consider it a disease-causing mutation.

I had no idea I would need a degree in genetics to figure out this diagnosis.

So I guess I am in limbo. It seems totally arbitrary at this point - like the CF guy will decide one way or the other whether this is my diagnosis, but really nobody knows? I can't say I'd be thrilled to have CF, but I would like to get an answer one way or the other. My allergist's other big idea was to get tested for primary ciliary dyskinesia, which seems even more unlikely to me and no better a diagnosis, so at this point I can't even hope one way or the other.

If anyone knows anything about this CF variant, please let me know.

(By the way, the test doesn't even determine whether they are on the same chromosome or not. That's really a big help, huh?)

Sarah
 
S

smccanl

New member
I picked up a hard copy of my lab results this morning and now I can see why my doctor sounded confused. I have ONE Cf mutation - G551D, and ONE CF variant, which is R75Q. This is not classified as an actual mutation and the lab interpretation says it could be a benign polymorphism or it could be a very mild CF mutation.

Looking through the archives here I see a couple of people who have gotten diagnoses based on a similar combination of R75Q plus a CF mutation, but I also see that Steve at Ambry has said that he does not consider it a disease-causing mutation.

I had no idea I would need a degree in genetics to figure out this diagnosis.

So I guess I am in limbo. It seems totally arbitrary at this point - like the CF guy will decide one way or the other whether this is my diagnosis, but really nobody knows? I can't say I'd be thrilled to have CF, but I would like to get an answer one way or the other. My allergist's other big idea was to get tested for primary ciliary dyskinesia, which seems even more unlikely to me and no better a diagnosis, so at this point I can't even hope one way or the other.

If anyone knows anything about this CF variant, please let me know.

(By the way, the test doesn't even determine whether they are on the same chromosome or not. That's really a big help, huh?)

Sarah
 
S

smccanl

New member
I picked up a hard copy of my lab results this morning and now I can see why my doctor sounded confused. I have ONE Cf mutation - G551D, and ONE CF variant, which is R75Q. This is not classified as an actual mutation and the lab interpretation says it could be a benign polymorphism or it could be a very mild CF mutation.
<br />
<br />Looking through the archives here I see a couple of people who have gotten diagnoses based on a similar combination of R75Q plus a CF mutation, but I also see that Steve at Ambry has said that he does not consider it a disease-causing mutation.
<br />
<br />I had no idea I would need a degree in genetics to figure out this diagnosis.
<br />
<br />So I guess I am in limbo. It seems totally arbitrary at this point - like the CF guy will decide one way or the other whether this is my diagnosis, but really nobody knows? I can't say I'd be thrilled to have CF, but I would like to get an answer one way or the other. My allergist's other big idea was to get tested for primary ciliary dyskinesia, which seems even more unlikely to me and no better a diagnosis, so at this point I can't even hope one way or the other.
<br />
<br />If anyone knows anything about this CF variant, please let me know.
<br />
<br />(By the way, the test doesn't even determine whether they are on the same chromosome or not. That's really a big help, huh?)
<br />
<br />Sarah
 
L

LisaV

New member
You should also be tested for alpha-1 anti-trypsin deficiency (see <a target=_blank class=ftalternatingbarlinklarge href="http://www.alphaone.org/">http://www.alphaone.org/</a> ). It is recommended that anyone who has emphysema, chronic obstructive pulmonary disease (COPD), chronic bronchitis
or <b>asthma that is incompletely reversible after
aggressive treatment</b> be tested.

Both CF and alpha-1 run in my late husband's family and both have caused difficulty
 
L

LisaV

New member
You should also be tested for alpha-1 anti-trypsin deficiency (see <a target=_blank class=ftalternatingbarlinklarge href="http://www.alphaone.org/">http://www.alphaone.org/</a> ). It is recommended that anyone who has emphysema, chronic obstructive pulmonary disease (COPD), chronic bronchitis
or <b>asthma that is incompletely reversible after
aggressive treatment</b> be tested.

Both CF and alpha-1 run in my late husband's family and both have caused difficulty
 
L

LisaV

New member
You should also be tested for alpha-1 anti-trypsin deficiency (see <a target=_blank class=ftalternatingbarlinklarge href="http://www.alphaone.org/">http://www.alphaone.org/</a> ). It is recommended that anyone who has emphysema, chronic obstructive pulmonary disease (COPD), chronic bronchitis
or <b>asthma that is incompletely reversible after
aggressive treatment</b> be tested.

Both CF and alpha-1 run in my late husband's family and both have caused difficulty
 
L

LisaV

New member
You should also be tested for alpha-1 anti-trypsin deficiency (see <a target=_blank class=ftalternatingbarlinklarge href="http://www.alphaone.org/">http://www.alphaone.org/</a> ). It is recommended that anyone who has emphysema, chronic obstructive pulmonary disease (COPD), chronic bronchitis
or <b>asthma that is incompletely reversible after
aggressive treatment</b> be tested.

Both CF and alpha-1 run in my late husband's family and both have caused difficulty
 
L

LisaV

New member
You should also be tested for alpha-1 anti-trypsin deficiency (see <a target=_blank class=ftalternatingbarlinklarge href="http://www.alphaone.org/">http://www.alphaone.org/</a> ). It is recommended that anyone who has emphysema, chronic obstructive pulmonary disease (COPD), chronic bronchitis
<br />or <b>asthma that is incompletely reversible after
<br />aggressive treatment</b> be tested.
<br />
<br />Both CF and alpha-1 run in my late husband's family and both have caused difficulty
 
H

hopesiris

Guest
Hi Sarah,

I was diagnosed last year at age 36 with one severe mutation (Delta F508) and one variant (5T/TG12). The combination usually causes mild to moderate CF. My CF is presenting extremely mildly at this point. I live a mostly normal life, my treatment takes about 25 minutes a day and I exercise/eat right. Yes, I cough and do have to work harder to not get sick but overall I'm doing very well. I'm 100% compliant with treatment, I never skip a day. My cough has lessened significantly, that part of doing treatments is fantastic and makes it well worth the effort. I do mine in the evening and find I sleep better.

This site has been the best source of info on CF for me but I do now spend less time here. It took a year for the diagnosis to sink in and for me to feel comfortable with my knowledge on this disease. I'm just going on with my life though, taking care of myself and enjoying my husband and my 9 month old daughter (no CF).

Bonnie
 
H

hopesiris

Guest
Hi Sarah,

I was diagnosed last year at age 36 with one severe mutation (Delta F508) and one variant (5T/TG12). The combination usually causes mild to moderate CF. My CF is presenting extremely mildly at this point. I live a mostly normal life, my treatment takes about 25 minutes a day and I exercise/eat right. Yes, I cough and do have to work harder to not get sick but overall I'm doing very well. I'm 100% compliant with treatment, I never skip a day. My cough has lessened significantly, that part of doing treatments is fantastic and makes it well worth the effort. I do mine in the evening and find I sleep better.

This site has been the best source of info on CF for me but I do now spend less time here. It took a year for the diagnosis to sink in and for me to feel comfortable with my knowledge on this disease. I'm just going on with my life though, taking care of myself and enjoying my husband and my 9 month old daughter (no CF).

Bonnie
 
H

hopesiris

Guest
Hi Sarah,

I was diagnosed last year at age 36 with one severe mutation (Delta F508) and one variant (5T/TG12). The combination usually causes mild to moderate CF. My CF is presenting extremely mildly at this point. I live a mostly normal life, my treatment takes about 25 minutes a day and I exercise/eat right. Yes, I cough and do have to work harder to not get sick but overall I'm doing very well. I'm 100% compliant with treatment, I never skip a day. My cough has lessened significantly, that part of doing treatments is fantastic and makes it well worth the effort. I do mine in the evening and find I sleep better.

This site has been the best source of info on CF for me but I do now spend less time here. It took a year for the diagnosis to sink in and for me to feel comfortable with my knowledge on this disease. I'm just going on with my life though, taking care of myself and enjoying my husband and my 9 month old daughter (no CF).

Bonnie
 
H

hopesiris

Guest
Hi Sarah,

I was diagnosed last year at age 36 with one severe mutation (Delta F508) and one variant (5T/TG12). The combination usually causes mild to moderate CF. My CF is presenting extremely mildly at this point. I live a mostly normal life, my treatment takes about 25 minutes a day and I exercise/eat right. Yes, I cough and do have to work harder to not get sick but overall I'm doing very well. I'm 100% compliant with treatment, I never skip a day. My cough has lessened significantly, that part of doing treatments is fantastic and makes it well worth the effort. I do mine in the evening and find I sleep better.

This site has been the best source of info on CF for me but I do now spend less time here. It took a year for the diagnosis to sink in and for me to feel comfortable with my knowledge on this disease. I'm just going on with my life though, taking care of myself and enjoying my husband and my 9 month old daughter (no CF).

Bonnie
 
H

hopesiris

Guest
Hi Sarah,
<br />
<br />I was diagnosed last year at age 36 with one severe mutation (Delta F508) and one variant (5T/TG12). The combination usually causes mild to moderate CF. My CF is presenting extremely mildly at this point. I live a mostly normal life, my treatment takes about 25 minutes a day and I exercise/eat right. Yes, I cough and do have to work harder to not get sick but overall I'm doing very well. I'm 100% compliant with treatment, I never skip a day. My cough has lessened significantly, that part of doing treatments is fantastic and makes it well worth the effort. I do mine in the evening and find I sleep better.
<br />
<br />This site has been the best source of info on CF for me but I do now spend less time here. It took a year for the diagnosis to sink in and for me to feel comfortable with my knowledge on this disease. I'm just going on with my life though, taking care of myself and enjoying my husband and my 9 month old daughter (no CF).
<br />
<br />Bonnie
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