Genetic Results In

[AbbysMama]

Jen,

I'm totally sorry that I seemed harsh in my post. I just get frustrated with those type of general sweeping statements. Even yearly check-ups with the CF clinic will be proactive in preventative care. They will help you develop a plan that will work best with your son and your son's projected prognosis.

You wouldn't be on the forums if you weren't already proactive in his care. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I do applaud you for your vigilance and proactiveness already.

Again, I reread my post and it was very harsh. I really do apologize.

Em

 

[AbbysMama]

Jen,

I'm totally sorry that I seemed harsh in my post. I just get frustrated with those type of general sweeping statements. Even yearly check-ups with the CF clinic will be proactive in preventative care. They will help you develop a plan that will work best with your son and your son's projected prognosis.

You wouldn't be on the forums if you weren't already proactive in his care. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I do applaud you for your vigilance and proactiveness already.

Again, I reread my post and it was very harsh. I really do apologize.

Em

 

[AbbysMama]

Jen,

I'm totally sorry that I seemed harsh in my post. I just get frustrated with those type of general sweeping statements. Even yearly check-ups with the CF clinic will be proactive in preventative care. They will help you develop a plan that will work best with your son and your son's projected prognosis.

You wouldn't be on the forums if you weren't already proactive in his care. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I do applaud you for your vigilance and proactiveness already.

Again, I reread my post and it was very harsh. I really do apologize.

Em

 

[AbbysMama]

Jen,

I'm totally sorry that I seemed harsh in my post. I just get frustrated with those type of general sweeping statements. Even yearly check-ups with the CF clinic will be proactive in preventative care. They will help you develop a plan that will work best with your son and your son's projected prognosis.

You wouldn't be on the forums if you weren't already proactive in his care. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I do applaud you for your vigilance and proactiveness already.

Again, I reread my post and it was very harsh. I really do apologize.

Em

 

[AbbysMama]

Jen,

I'm totally sorry that I seemed harsh in my post. I just get frustrated with those type of general sweeping statements. Even yearly check-ups with the CF clinic will be proactive in preventative care. They will help you develop a plan that will work best with your son and your son's projected prognosis.

You wouldn't be on the forums if you weren't already proactive in his care. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I do applaud you for your vigilance and proactiveness already.

Again, I reread my post and it was very harsh. I really do apologize.

Em

 

[Alyssa]

I am confused about the "complex carrier and the "benign variant" part (just never heard the terms before -- of course I know what the words mean, just not used in relation to a CF diagnosis) .... but I wanted to let you know what has happened with us so you would have it in your brain, in case you decide it is pertinent information:

My kids were a late diagnosis. They have Delta F508 and R117H. My daughter was clearly misdiagnosed at age 5 because of a sweat test number of 38. After genetic testing 8 years later at age 14 she was correctly diagnosed and treated.

Our son was genetically tested just because I wanted to see if he was a carrier - he had no symptoms at age 18. Turns out he has both genes that we found in his sister. The doctor didn't put the CF diagnosis on him right away since he did not have any symptoms. You can read the full story in my blog, but long story short at age 21 we did start seeing some symptoms that fortunately we could treat right away because we knew exactly what they were and how to treat them.

How old is your son? At 18 years old my son was not curious (and still is not) to find out if he has CBAVD or not. We have not pursued testing. Had I been given his diagnosis when he was younger I might have pursued testing just so I would know (assuming the doctors would allow it) I was told testing would be an ultrasound of the testicle area -- assuming that is correct and you are comfortable with doing it, I would think it would be better to know yourself now so you can inform him at whatever age you decide would be appropriate if he does not have the vas deferins - then you could just explain it without having to go through the testing and wondering at that point.

Best wishes

 

[Alyssa]

I am confused about the "complex carrier and the "benign variant" part (just never heard the terms before -- of course I know what the words mean, just not used in relation to a CF diagnosis) .... but I wanted to let you know what has happened with us so you would have it in your brain, in case you decide it is pertinent information:

My kids were a late diagnosis. They have Delta F508 and R117H. My daughter was clearly misdiagnosed at age 5 because of a sweat test number of 38. After genetic testing 8 years later at age 14 she was correctly diagnosed and treated.

Our son was genetically tested just because I wanted to see if he was a carrier - he had no symptoms at age 18. Turns out he has both genes that we found in his sister. The doctor didn't put the CF diagnosis on him right away since he did not have any symptoms. You can read the full story in my blog, but long story short at age 21 we did start seeing some symptoms that fortunately we could treat right away because we knew exactly what they were and how to treat them.

How old is your son? At 18 years old my son was not curious (and still is not) to find out if he has CBAVD or not. We have not pursued testing. Had I been given his diagnosis when he was younger I might have pursued testing just so I would know (assuming the doctors would allow it) I was told testing would be an ultrasound of the testicle area -- assuming that is correct and you are comfortable with doing it, I would think it would be better to know yourself now so you can inform him at whatever age you decide would be appropriate if he does not have the vas deferins - then you could just explain it without having to go through the testing and wondering at that point.

Best wishes

 

[Alyssa]

I am confused about the "complex carrier and the "benign variant" part (just never heard the terms before -- of course I know what the words mean, just not used in relation to a CF diagnosis) .... but I wanted to let you know what has happened with us so you would have it in your brain, in case you decide it is pertinent information:

My kids were a late diagnosis. They have Delta F508 and R117H. My daughter was clearly misdiagnosed at age 5 because of a sweat test number of 38. After genetic testing 8 years later at age 14 she was correctly diagnosed and treated.

Our son was genetically tested just because I wanted to see if he was a carrier - he had no symptoms at age 18. Turns out he has both genes that we found in his sister. The doctor didn't put the CF diagnosis on him right away since he did not have any symptoms. You can read the full story in my blog, but long story short at age 21 we did start seeing some symptoms that fortunately we could treat right away because we knew exactly what they were and how to treat them.

How old is your son? At 18 years old my son was not curious (and still is not) to find out if he has CBAVD or not. We have not pursued testing. Had I been given his diagnosis when he was younger I might have pursued testing just so I would know (assuming the doctors would allow it) I was told testing would be an ultrasound of the testicle area -- assuming that is correct and you are comfortable with doing it, I would think it would be better to know yourself now so you can inform him at whatever age you decide would be appropriate if he does not have the vas deferins - then you could just explain it without having to go through the testing and wondering at that point.

Best wishes

 

[Alyssa]

I am confused about the "complex carrier and the "benign variant" part (just never heard the terms before -- of course I know what the words mean, just not used in relation to a CF diagnosis) .... but I wanted to let you know what has happened with us so you would have it in your brain, in case you decide it is pertinent information:

My kids were a late diagnosis. They have Delta F508 and R117H. My daughter was clearly misdiagnosed at age 5 because of a sweat test number of 38. After genetic testing 8 years later at age 14 she was correctly diagnosed and treated.

Our son was genetically tested just because I wanted to see if he was a carrier - he had no symptoms at age 18. Turns out he has both genes that we found in his sister. The doctor didn't put the CF diagnosis on him right away since he did not have any symptoms. You can read the full story in my blog, but long story short at age 21 we did start seeing some symptoms that fortunately we could treat right away because we knew exactly what they were and how to treat them.

How old is your son? At 18 years old my son was not curious (and still is not) to find out if he has CBAVD or not. We have not pursued testing. Had I been given his diagnosis when he was younger I might have pursued testing just so I would know (assuming the doctors would allow it) I was told testing would be an ultrasound of the testicle area -- assuming that is correct and you are comfortable with doing it, I would think it would be better to know yourself now so you can inform him at whatever age you decide would be appropriate if he does not have the vas deferins - then you could just explain it without having to go through the testing and wondering at that point.

Best wishes

 

[Alyssa]

I am confused about the "complex carrier and the "benign variant" part (just never heard the terms before -- of course I know what the words mean, just not used in relation to a CF diagnosis) .... but I wanted to let you know what has happened with us so you would have it in your brain, in case you decide it is pertinent information:

My kids were a late diagnosis. They have Delta F508 and R117H. My daughter was clearly misdiagnosed at age 5 because of a sweat test number of 38. After genetic testing 8 years later at age 14 she was correctly diagnosed and treated.

Our son was genetically tested just because I wanted to see if he was a carrier - he had no symptoms at age 18. Turns out he has both genes that we found in his sister. The doctor didn't put the CF diagnosis on him right away since he did not have any symptoms. You can read the full story in my blog, but long story short at age 21 we did start seeing some symptoms that fortunately we could treat right away because we knew exactly what they were and how to treat them.

How old is your son? At 18 years old my son was not curious (and still is not) to find out if he has CBAVD or not. We have not pursued testing. Had I been given his diagnosis when he was younger I might have pursued testing just so I would know (assuming the doctors would allow it) I was told testing would be an ultrasound of the testicle area -- assuming that is correct and you are comfortable with doing it, I would think it would be better to know yourself now so you can inform him at whatever age you decide would be appropriate if he does not have the vas deferins - then you could just explain it without having to go through the testing and wondering at that point.

Best wishes

 

[jena]

An interesting side note (off-topic) about the CBAVD issue:
My son had to see a urologist a couple of weeks ago. This was regarding a totally non-cf issue (his uretha was too narrow and he ended up having a surgergy to correct it... not a big deal). After the doctor examined him, he made the comment "Oh, I forgot to see if he has a Vas. Oh well, I can check another time". I was very shocked at this statement and asked "You can tell that just by a physical examination?" And he said "Oh, yes. In fact I have referred several patients to the CF clinic when I find that they don't have a VAS".
Of course if he HAD examined him and found a Vas - that doesn't mean he's not infertile. Then, it would likely be blocked up. And I guess more complicated testing would be required for that. I panicked for a minute because I wasn't sure I was ready for a final verdict on that. Not sure if we need to let our son make that decision... or maybe it's better if he knows from the start. I just knew I wasn't prepared that minute for the answer. To be honest, I think I'm prepared but there are other familiy members that are clinging to the 2% hope. I told my MIL a while back that he would either need to adopt or go an invitro route if he wants children (I was positve and upbeat about it) and she about flipped out. She went into denial and said that he's going to be able to have his own children the regular way and didn't want to hear any more about it. She's all about things being done naturally and is all about genetics (biological children). I just hope she doesn't feel my son's head with that cr*p.
OK, this was just supposed to be an interesting side note and I find myself rambling!!!!
Jena
7 yr old w/cf
3 yr old no cf

 

[jena]

An interesting side note (off-topic) about the CBAVD issue:
My son had to see a urologist a couple of weeks ago. This was regarding a totally non-cf issue (his uretha was too narrow and he ended up having a surgergy to correct it... not a big deal). After the doctor examined him, he made the comment "Oh, I forgot to see if he has a Vas. Oh well, I can check another time". I was very shocked at this statement and asked "You can tell that just by a physical examination?" And he said "Oh, yes. In fact I have referred several patients to the CF clinic when I find that they don't have a VAS".
Of course if he HAD examined him and found a Vas - that doesn't mean he's not infertile. Then, it would likely be blocked up. And I guess more complicated testing would be required for that. I panicked for a minute because I wasn't sure I was ready for a final verdict on that. Not sure if we need to let our son make that decision... or maybe it's better if he knows from the start. I just knew I wasn't prepared that minute for the answer. To be honest, I think I'm prepared but there are other familiy members that are clinging to the 2% hope. I told my MIL a while back that he would either need to adopt or go an invitro route if he wants children (I was positve and upbeat about it) and she about flipped out. She went into denial and said that he's going to be able to have his own children the regular way and didn't want to hear any more about it. She's all about things being done naturally and is all about genetics (biological children). I just hope she doesn't feel my son's head with that cr*p.
OK, this was just supposed to be an interesting side note and I find myself rambling!!!!
Jena
7 yr old w/cf
3 yr old no cf

 

[jena]

An interesting side note (off-topic) about the CBAVD issue:
My son had to see a urologist a couple of weeks ago. This was regarding a totally non-cf issue (his uretha was too narrow and he ended up having a surgergy to correct it... not a big deal). After the doctor examined him, he made the comment "Oh, I forgot to see if he has a Vas. Oh well, I can check another time". I was very shocked at this statement and asked "You can tell that just by a physical examination?" And he said "Oh, yes. In fact I have referred several patients to the CF clinic when I find that they don't have a VAS".
Of course if he HAD examined him and found a Vas - that doesn't mean he's not infertile. Then, it would likely be blocked up. And I guess more complicated testing would be required for that. I panicked for a minute because I wasn't sure I was ready for a final verdict on that. Not sure if we need to let our son make that decision... or maybe it's better if he knows from the start. I just knew I wasn't prepared that minute for the answer. To be honest, I think I'm prepared but there are other familiy members that are clinging to the 2% hope. I told my MIL a while back that he would either need to adopt or go an invitro route if he wants children (I was positve and upbeat about it) and she about flipped out. She went into denial and said that he's going to be able to have his own children the regular way and didn't want to hear any more about it. She's all about things being done naturally and is all about genetics (biological children). I just hope she doesn't feel my son's head with that cr*p.
OK, this was just supposed to be an interesting side note and I find myself rambling!!!!
Jena
7 yr old w/cf
3 yr old no cf

 

[jena]

An interesting side note (off-topic) about the CBAVD issue:
My son had to see a urologist a couple of weeks ago. This was regarding a totally non-cf issue (his uretha was too narrow and he ended up having a surgergy to correct it... not a big deal). After the doctor examined him, he made the comment "Oh, I forgot to see if he has a Vas. Oh well, I can check another time". I was very shocked at this statement and asked "You can tell that just by a physical examination?" And he said "Oh, yes. In fact I have referred several patients to the CF clinic when I find that they don't have a VAS".
Of course if he HAD examined him and found a Vas - that doesn't mean he's not infertile. Then, it would likely be blocked up. And I guess more complicated testing would be required for that. I panicked for a minute because I wasn't sure I was ready for a final verdict on that. Not sure if we need to let our son make that decision... or maybe it's better if he knows from the start. I just knew I wasn't prepared that minute for the answer. To be honest, I think I'm prepared but there are other familiy members that are clinging to the 2% hope. I told my MIL a while back that he would either need to adopt or go an invitro route if he wants children (I was positve and upbeat about it) and she about flipped out. She went into denial and said that he's going to be able to have his own children the regular way and didn't want to hear any more about it. She's all about things being done naturally and is all about genetics (biological children). I just hope she doesn't feel my son's head with that cr*p.
OK, this was just supposed to be an interesting side note and I find myself rambling!!!!
Jena
7 yr old w/cf
3 yr old no cf

 

[jena]

An interesting side note (off-topic) about the CBAVD issue:
My son had to see a urologist a couple of weeks ago. This was regarding a totally non-cf issue (his uretha was too narrow and he ended up having a surgergy to correct it... not a big deal). After the doctor examined him, he made the comment "Oh, I forgot to see if he has a Vas. Oh well, I can check another time". I was very shocked at this statement and asked "You can tell that just by a physical examination?" And he said "Oh, yes. In fact I have referred several patients to the CF clinic when I find that they don't have a VAS".
Of course if he HAD examined him and found a Vas - that doesn't mean he's not infertile. Then, it would likely be blocked up. And I guess more complicated testing would be required for that. I panicked for a minute because I wasn't sure I was ready for a final verdict on that. Not sure if we need to let our son make that decision... or maybe it's better if he knows from the start. I just knew I wasn't prepared that minute for the answer. To be honest, I think I'm prepared but there are other familiy members that are clinging to the 2% hope. I told my MIL a while back that he would either need to adopt or go an invitro route if he wants children (I was positve and upbeat about it) and she about flipped out. She went into denial and said that he's going to be able to have his own children the regular way and didn't want to hear any more about it. She's all about things being done naturally and is all about genetics (biological children). I just hope she doesn't feel my son's head with that cr*p.
OK, this was just supposed to be an interesting side note and I find myself rambling!!!!
Jena
7 yr old w/cf
3 yr old no cf