Are there still unknown mutations?

H

hmw

New member
Emily and her cousin both have CF. Both have one known and one unknown mutation, and both have symptoms that have resulted in a definitive dx despite not knowing both mutations. Her and her cousin, in an extremely generalized way, have had similar symptoms too- more GI issues vs. lung disease.

Fortunately in Emily's case, not knowing both hasn't resulted in anyone waffling over whether to treat her as it has for some. She was clearly very ill by the time she was dx'ed, her sweat test was definitive (108) and treatment has clearly benefited her. Thank God.
 
H

hmw

New member
Emily and her cousin both have CF. Both have one known and one unknown mutation, and both have symptoms that have resulted in a definitive dx despite not knowing both mutations. Her and her cousin, in an extremely generalized way, have had similar symptoms too- more GI issues vs. lung disease.

Fortunately in Emily's case, not knowing both hasn't resulted in anyone waffling over whether to treat her as it has for some. She was clearly very ill by the time she was dx'ed, her sweat test was definitive (108) and treatment has clearly benefited her. Thank God.
 
H

hmw

New member
Emily and her cousin both have CF. Both have one known and one unknown mutation, and both have symptoms that have resulted in a definitive dx despite not knowing both mutations. Her and her cousin, in an extremely generalized way, have had similar symptoms too- more GI issues vs. lung disease.

Fortunately in Emily's case, not knowing both hasn't resulted in anyone waffling over whether to treat her as it has for some. She was clearly very ill by the time she was dx'ed, her sweat test was definitive (108) and treatment has clearly benefited her. Thank God.
 
H

hmw

New member
Emily and her cousin both have CF. Both have one known and one unknown mutation, and both have symptoms that have resulted in a definitive dx despite not knowing both mutations. Her and her cousin, in an extremely generalized way, have had similar symptoms too- more GI issues vs. lung disease.

Fortunately in Emily's case, not knowing both hasn't resulted in anyone waffling over whether to treat her as it has for some. She was clearly very ill by the time she was dx'ed, her sweat test was definitive (108) and treatment has clearly benefited her. Thank God.
 
H

hmw

New member
Emily and her cousin both have CF. Both have one known and one unknown mutation, and both have symptoms that have resulted in a definitive dx despite not knowing both mutations. Her and her cousin, in an extremely generalized way, have had similar symptoms too- more GI issues vs. lung disease.
<br />
<br />Fortunately in Emily's case, not knowing both hasn't resulted in anyone waffling over whether to treat her as it has for some. She was clearly very ill by the time she was dx'ed, her sweat test was definitive (108) and treatment has clearly benefited her. Thank God.
<br />
<br />
 
A

Alyssa

New member
It's pretty likely that your "unknown" gene is now a known gene. If it were me, I'd see if your doctor will order genetic testing for you to find out both mutations. There are treatments (either out now, or coming down the pipeline) that will work on only specific gene types, so you have a valid case for needing to know if your unknown gene has now been identified.
 
A

Alyssa

New member
It's pretty likely that your "unknown" gene is now a known gene. If it were me, I'd see if your doctor will order genetic testing for you to find out both mutations. There are treatments (either out now, or coming down the pipeline) that will work on only specific gene types, so you have a valid case for needing to know if your unknown gene has now been identified.
 
A

Alyssa

New member
It's pretty likely that your "unknown" gene is now a known gene. If it were me, I'd see if your doctor will order genetic testing for you to find out both mutations. There are treatments (either out now, or coming down the pipeline) that will work on only specific gene types, so you have a valid case for needing to know if your unknown gene has now been identified.
 
A

Alyssa

New member
It's pretty likely that your "unknown" gene is now a known gene. If it were me, I'd see if your doctor will order genetic testing for you to find out both mutations. There are treatments (either out now, or coming down the pipeline) that will work on only specific gene types, so you have a valid case for needing to know if your unknown gene has now been identified.
 
A

Alyssa

New member
It's pretty likely that your "unknown" gene is now a known gene. If it were me, I'd see if your doctor will order genetic testing for you to find out both mutations. There are treatments (either out now, or coming down the pipeline) that will work on only specific gene types, so you have a valid case for needing to know if your unknown gene has now been identified.
 
J

Jana

New member
Thank you! You all answered my question well in spite of its interesting wording =)

Actually, I was only curious, but it sounds like it's definitely worth checking into.

Obviously at the time of my diagnosis they were just going by sweat tests. Mine was actually repeated several times. Long story, but I was first given a diagnosis by a doctor in Indonesia (where my parents were--still are, in fact--missionaries). We had been in the country only 3 days when I had to be hospitalized with pneumonia and dehydration. I didn't start getting well or continue to grow after that, so finally the doctor who was treating me (the only one in the hospital who spoke English) just began reading through medical books until he came up with a diagnosis that seemed to fit. He treated me for CF, and it worked very well. Sweat tests in Indonesia and Singapore both showed me as positive. At 5, when we returned to the US for a year, the doctors here initially thought I was much too healthy for CF, but the resulting sweat test must have been conclusive. For the same reason, they repeated the test at 11, when we once again spent a year here, but again the results were the same.

The genetic testing was done when I was in college--apparently in the earlier stages of that testing! I actually hadn't realized they use it for diagnosis these days--just hadn't thought about it.

Nobody is doubting my diagnosis any more, but since it appears updated testing could matter, I definitely want to check into it now.

Thanks for all your help on this and other issues--this site has really been a help to me in the short time I've been on it.
 
J

Jana

New member
Thank you! You all answered my question well in spite of its interesting wording =)

Actually, I was only curious, but it sounds like it's definitely worth checking into.

Obviously at the time of my diagnosis they were just going by sweat tests. Mine was actually repeated several times. Long story, but I was first given a diagnosis by a doctor in Indonesia (where my parents were--still are, in fact--missionaries). We had been in the country only 3 days when I had to be hospitalized with pneumonia and dehydration. I didn't start getting well or continue to grow after that, so finally the doctor who was treating me (the only one in the hospital who spoke English) just began reading through medical books until he came up with a diagnosis that seemed to fit. He treated me for CF, and it worked very well. Sweat tests in Indonesia and Singapore both showed me as positive. At 5, when we returned to the US for a year, the doctors here initially thought I was much too healthy for CF, but the resulting sweat test must have been conclusive. For the same reason, they repeated the test at 11, when we once again spent a year here, but again the results were the same.

The genetic testing was done when I was in college--apparently in the earlier stages of that testing! I actually hadn't realized they use it for diagnosis these days--just hadn't thought about it.

Nobody is doubting my diagnosis any more, but since it appears updated testing could matter, I definitely want to check into it now.

Thanks for all your help on this and other issues--this site has really been a help to me in the short time I've been on it.
 
J

Jana

New member
Thank you! You all answered my question well in spite of its interesting wording =)

Actually, I was only curious, but it sounds like it's definitely worth checking into.

Obviously at the time of my diagnosis they were just going by sweat tests. Mine was actually repeated several times. Long story, but I was first given a diagnosis by a doctor in Indonesia (where my parents were--still are, in fact--missionaries). We had been in the country only 3 days when I had to be hospitalized with pneumonia and dehydration. I didn't start getting well or continue to grow after that, so finally the doctor who was treating me (the only one in the hospital who spoke English) just began reading through medical books until he came up with a diagnosis that seemed to fit. He treated me for CF, and it worked very well. Sweat tests in Indonesia and Singapore both showed me as positive. At 5, when we returned to the US for a year, the doctors here initially thought I was much too healthy for CF, but the resulting sweat test must have been conclusive. For the same reason, they repeated the test at 11, when we once again spent a year here, but again the results were the same.

The genetic testing was done when I was in college--apparently in the earlier stages of that testing! I actually hadn't realized they use it for diagnosis these days--just hadn't thought about it.

Nobody is doubting my diagnosis any more, but since it appears updated testing could matter, I definitely want to check into it now.

Thanks for all your help on this and other issues--this site has really been a help to me in the short time I've been on it.
 
J

Jana

New member
Thank you! You all answered my question well in spite of its interesting wording =)

Actually, I was only curious, but it sounds like it's definitely worth checking into.

Obviously at the time of my diagnosis they were just going by sweat tests. Mine was actually repeated several times. Long story, but I was first given a diagnosis by a doctor in Indonesia (where my parents were--still are, in fact--missionaries). We had been in the country only 3 days when I had to be hospitalized with pneumonia and dehydration. I didn't start getting well or continue to grow after that, so finally the doctor who was treating me (the only one in the hospital who spoke English) just began reading through medical books until he came up with a diagnosis that seemed to fit. He treated me for CF, and it worked very well. Sweat tests in Indonesia and Singapore both showed me as positive. At 5, when we returned to the US for a year, the doctors here initially thought I was much too healthy for CF, but the resulting sweat test must have been conclusive. For the same reason, they repeated the test at 11, when we once again spent a year here, but again the results were the same.

The genetic testing was done when I was in college--apparently in the earlier stages of that testing! I actually hadn't realized they use it for diagnosis these days--just hadn't thought about it.

Nobody is doubting my diagnosis any more, but since it appears updated testing could matter, I definitely want to check into it now.

Thanks for all your help on this and other issues--this site has really been a help to me in the short time I've been on it.
 
J

Jana

New member
Thank you! You all answered my question well in spite of its interesting wording =)
<br />
<br />Actually, I was only curious, but it sounds like it's definitely worth checking into.
<br />
<br />Obviously at the time of my diagnosis they were just going by sweat tests. Mine was actually repeated several times. Long story, but I was first given a diagnosis by a doctor in Indonesia (where my parents were--still are, in fact--missionaries). We had been in the country only 3 days when I had to be hospitalized with pneumonia and dehydration. I didn't start getting well or continue to grow after that, so finally the doctor who was treating me (the only one in the hospital who spoke English) just began reading through medical books until he came up with a diagnosis that seemed to fit. He treated me for CF, and it worked very well. Sweat tests in Indonesia and Singapore both showed me as positive. At 5, when we returned to the US for a year, the doctors here initially thought I was much too healthy for CF, but the resulting sweat test must have been conclusive. For the same reason, they repeated the test at 11, when we once again spent a year here, but again the results were the same.
<br />
<br />The genetic testing was done when I was in college--apparently in the earlier stages of that testing! I actually hadn't realized they use it for diagnosis these days--just hadn't thought about it.
<br />
<br />Nobody is doubting my diagnosis any more, but since it appears updated testing could matter, I definitely want to check into it now.
<br />
<br />Thanks for all your help on this and other issues--this site has really been a help to me in the short time I've been on it.
 
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