We're in the process of getting my dad genetically tested. We're pushing for sequencing but it's like pulling teeth to get the medical community to agree. He's 60 and any symptoms he has they chalk up to his age. Both of my mutations are common so they started with a small panel (against my wishes) and found out he carries DF508. Next they will sweat test. Then I can only imagine he'll have to demand sequencing if the sweat comes out negative. Who knows if he'll follow through with all this. I can't make my dad do it. Of course I'd just like him to be sequenced but we do have a more important reason to do it and that is because of recurring pneumonia. That is his motivation. He is following my lead.
Funny he was in the genetic office and there was some confusion so the geneticist and he called me. I spoke with her - she was intrigued by my arguement to sequence him but wouldn't agree to just jump to doing it. She felt she needed to work up to it. Turns out it struck home. She herself carries DF508 and I was the one that made her realize that just because she doesn't have symptoms doesn't mean she doesn't have cf. I told her basically yeah look you might be sitting where my dad is when you're 60. Some level of preventative care now could extend your life. I get sort of direct and agressive with docs sometimes...their know it all attitude can get under my skin.
And the attitude is not because insurance won't cover it. If you research this subject you'll find medical journal articles that basically all agree that testing for the sake of testing is not a good idea because - - and get ready for this - - because it causes undue stress for the person and the family involved should they find a second mutation. And as my husband was recently told when we were pursuing sequencing on him, "If we turn up a second mutation on you (DH), it is very likely to be one that there's no clinical data on (since he has no symptoms). What good is that going to do anyone." WTF isn't it our call how we are going to handle the news? We were terrified by this and insisted on sequencing. Seemed like negligence to me but then I did the reading of journal articles and saw where this train of thinking came from. "We told them thanks for sharing there reasons but that we'll take the full test (meaning sequencing) then we'll do what WE want with OUR results."
What ever happened to 'knowledge is power?'
I reckon very few of you know for sure that your parents don't have cf. In fact, I'd guess very few of your parents have even had a very basic - less than 30 mutation - panel test. Heck some of us haven't even been genetically tested (but the majority of us have failed the sweat test).
I believe there's a large part of the population that has cf (may even have no symptoms). Maybe you say what does it matter if they don't need treatment?
1) Wouldn't a larger cf population mean more money for research? (Of course, the "face of cf" would change drastically since the severely symptomatic would probably be the minority).
2) Wouldn't researchers learn something by studying these a symptomatic population that could apply to the more symptomatic population? For example, I would think trends regarding diet and more info on modifier genes could be gathered more readily with a bigger population to pull from.
Kind of makes you wonder if that 1:29 caucasians is a carrier is a load of BS doesn't it? Heck kind of makes me wonder if the 30K people with cf in the US, 50K internally is just a random number (especially given it hasn't changed ever since I can remember). I can't get a straight answer from the CFF about this. My guess most of their employees don't have a clue. They just accept the numbers that are dished out to them. No I'm not bitter I love the CFF and do all my fundraising for them but I just wonder if there's a conspiracy. Do they not agree that finding out out about this "shade of gray of cf" in our society could benefit them? My guess is no since their approach is still to play up the ill.
I hope I got someone thinking. Post whatever you want. I hope it develops a good dialogue / debate.
Funny he was in the genetic office and there was some confusion so the geneticist and he called me. I spoke with her - she was intrigued by my arguement to sequence him but wouldn't agree to just jump to doing it. She felt she needed to work up to it. Turns out it struck home. She herself carries DF508 and I was the one that made her realize that just because she doesn't have symptoms doesn't mean she doesn't have cf. I told her basically yeah look you might be sitting where my dad is when you're 60. Some level of preventative care now could extend your life. I get sort of direct and agressive with docs sometimes...their know it all attitude can get under my skin.
And the attitude is not because insurance won't cover it. If you research this subject you'll find medical journal articles that basically all agree that testing for the sake of testing is not a good idea because - - and get ready for this - - because it causes undue stress for the person and the family involved should they find a second mutation. And as my husband was recently told when we were pursuing sequencing on him, "If we turn up a second mutation on you (DH), it is very likely to be one that there's no clinical data on (since he has no symptoms). What good is that going to do anyone." WTF isn't it our call how we are going to handle the news? We were terrified by this and insisted on sequencing. Seemed like negligence to me but then I did the reading of journal articles and saw where this train of thinking came from. "We told them thanks for sharing there reasons but that we'll take the full test (meaning sequencing) then we'll do what WE want with OUR results."
What ever happened to 'knowledge is power?'
I reckon very few of you know for sure that your parents don't have cf. In fact, I'd guess very few of your parents have even had a very basic - less than 30 mutation - panel test. Heck some of us haven't even been genetically tested (but the majority of us have failed the sweat test).
I believe there's a large part of the population that has cf (may even have no symptoms). Maybe you say what does it matter if they don't need treatment?
1) Wouldn't a larger cf population mean more money for research? (Of course, the "face of cf" would change drastically since the severely symptomatic would probably be the minority).
2) Wouldn't researchers learn something by studying these a symptomatic population that could apply to the more symptomatic population? For example, I would think trends regarding diet and more info on modifier genes could be gathered more readily with a bigger population to pull from.
Kind of makes you wonder if that 1:29 caucasians is a carrier is a load of BS doesn't it? Heck kind of makes me wonder if the 30K people with cf in the US, 50K internally is just a random number (especially given it hasn't changed ever since I can remember). I can't get a straight answer from the CFF about this. My guess most of their employees don't have a clue. They just accept the numbers that are dished out to them. No I'm not bitter I love the CFF and do all my fundraising for them but I just wonder if there's a conspiracy. Do they not agree that finding out out about this "shade of gray of cf" in our society could benefit them? My guess is no since their approach is still to play up the ill.
I hope I got someone thinking. Post whatever you want. I hope it develops a good dialogue / debate.