I just got home after seeing my doc earlier today. I asked him if he would do a DNA test to see what mutations I have because everyone here seems to know. Is it necessary to know? Does it help with treatment? Also, is it routine to check the spouse in case you want kids? He said he would check with the insurance company but I would think that test ing the spouse for a carrier gene would be routine. I know fertility is an issue with men but I am fertile. Just wondering because he said we just treat the symptoms and there is no need to know the mutations you have.
MUTATIONS
- Thread starter beyerdug
- Start date
Emily65Roses
New member
It's not necessary to know what mutations you have, really. Some people like to know. I prefer to know simply because I like knowing all that random stuff, what my sweat test results were, my mutations, etc etc. And I wanted to learn my mutations because I'm getting them tattooed on me. But it doesn't help a whole lot with your care.
As for testing spouses, it is fairly routine, because you WILL give your child a CF gene, no questions asked. So the chances are much higher your child will have CF, if your spouse carries it. It's worth testing.
As for testing spouses, it is fairly routine, because you WILL give your child a CF gene, no questions asked. So the chances are much higher your child will have CF, if your spouse carries it. It's worth testing.
I agree with Emily, it's not necessary to know, although I definately think if you WANT to know, you should.
All of mark's childhood medical records said, "double delta F 508" but we couldn't find the actual lab anywhere. So we asked his CF doctor if they could do the genetic testing. It was't a problem.
Now we know, just for knowing's sake.
I'd indulge in your curiosity though if I were you.
All of mark's childhood medical records said, "double delta F 508" but we couldn't find the actual lab anywhere. So we asked his CF doctor if they could do the genetic testing. It was't a problem.
Now we know, just for knowing's sake.
I'd indulge in your curiosity though if I were you.
Hi Doug--
I think it is only natural to want to know what CF genes you carry and yes it makes perfect sense to have your wife tested. I hope the doctor was able to answer your questions about your lung infection and that you are satisfied with how he plans to treat it. The best to you.
I think it is only natural to want to know what CF genes you carry and yes it makes perfect sense to have your wife tested. I hope the doctor was able to answer your questions about your lung infection and that you are satisfied with how he plans to treat it. The best to you.
littledebbie
New member
I don't know mine and actually don't care. That's just me though <img src="i/expressions/face-icon-small-happy.gif" border="0">
Some genes will be treated earlier than others in terms of gene therapy. Count on it.
I know Allie told me that the Israeli's are working on treating a gene that is a "stop" mutation.
So if you know your gene type, and you have a nonsense mutation, you may get treatment soon.
Additionally, I know they're working on meds for Delta F 508 since it is the most common CF gene. You may eventually need to know if you carry that gene as well.
I know Allie told me that the Israeli's are working on treating a gene that is a "stop" mutation.
So if you know your gene type, and you have a nonsense mutation, you may get treatment soon.
Additionally, I know they're working on meds for Delta F 508 since it is the most common CF gene. You may eventually need to know if you carry that gene as well.
In case anyone thinks I'm blowing Pro-Israel smoke lol...
<a target=_blank class=ftalternatingbarlinklarge href="http://www.clinicaltrials.gov/ct/show/NCT00237380;jsessionid=E6D125DCE14EE86C6D08C04F8598EA15?order=8">Study at Hassadah in Israel</a>
For nonsense mutations like (W1282x)
<a target=_blank class=ftalternatingbarlinklarge href="http://www.clinicaltrials.gov/ct/show/NCT00237380;jsessionid=E6D125DCE14EE86C6D08C04F8598EA15?order=8">Study at Hassadah in Israel</a>
For nonsense mutations like (W1282x)
cearalaith
New member
It <b>is</b> routine to test spouses, and it will be covered by most insurances (even if your spouse isn't on your plan, the unborn child is, so they will pay to test her on behalf of the child). Your spouse does not have to be tested, but if she is and tests positive then you'll have the option of amnio to test the baby for CF. And you can make plans from there.
Additionally, your immediate family can get genetic testing and/or counselling when considering pregnancy, and their insurances should cover it. My sister has CF, which meant I was very likely a carrier, and my insurance paid to test me and my spouse when I was pregnant.
Hope that helps.
Additionally, your immediate family can get genetic testing and/or counselling when considering pregnancy, and their insurances should cover it. My sister has CF, which meant I was very likely a carrier, and my insurance paid to test me and my spouse when I was pregnant.
Hope that helps.
Hey Janet,
I cant figure out how to send a private message so I'll just tell you here. I guess that my doctor visit went well. He said that the infection is just part of my normal flora and nothing to worry about. He is keeping me on antibiotics for a month because I have mucus plugs that need to come out. He also gave me a perscription for pulmozine and is trying to get me a vest. Not really good news to me but seems pretty minor in the whole scope of things. I just haven't had to do all of this before so it will be an adjustment for me. I will have monthly checkups to see how I am doing and for him to get to know me and how I react to things. All of that is good. Also, he said that my pancreas is working just fine.
So tell me how it went for you and your son yesterday. I hope you are doing well.
I cant figure out how to send a private message so I'll just tell you here. I guess that my doctor visit went well. He said that the infection is just part of my normal flora and nothing to worry about. He is keeping me on antibiotics for a month because I have mucus plugs that need to come out. He also gave me a perscription for pulmozine and is trying to get me a vest. Not really good news to me but seems pretty minor in the whole scope of things. I just haven't had to do all of this before so it will be an adjustment for me. I will have monthly checkups to see how I am doing and for him to get to know me and how I react to things. All of that is good. Also, he said that my pancreas is working just fine.
So tell me how it went for you and your son yesterday. I hope you are doing well.
Hi Doug,
I wish I had someone next to me to figure out how to work all these private features and how to get my paragraphs seperated when I write a message. I do not have the patience or time to read through them now but one day I will figure it out. My son's surgery was long but went well. His cysts were extensive so his recovery will be longer than anticipated. My consult also went well. The specialist recommended a follow up in 6 months with some additional tests to be performed at that time. Then if everything looks the same we will continue to monitor. I am glad she is being cautious but attentive to the situation. So, I will put it on the back burner for 6 months then follow up with her then.
Did your doctor recommend hypertonic saline for you? It might be good for helping to cough out the mucus plugs. I recently went on it and it does help to make a productive cough. I especially find it helpful in the mornings. I know the pulmozyme thins the mucus and I have been on it for many years but the HS I found imeadiately beneficial.
Do you like your doctor? Is he a CF doctor? I hope I am not asking too many questions and answer just what you want and ignore the rest. One month of antibiotics is not a long time. You must be happy with that. It sounds like your sputum culture results were very good.
When you get The Vest you can use it while you are on the computer which is what I do. Finding time to incorporate all these new treatments can be a pain but the benefits are worth it so make a schedule and do your best to stick to it.
Good to hear that your pancreas it working fine and that you will be doing monthly checkups untill things get in a groove. This is really smart.
From what you wrote your news does sound very good but I understand it is also a new way of life for you and adjustments need to be made and that is a pain to get used to. But soon enough you will get used to them and what is most important is that you will be feeling overall healthier and that will make all this worth it. Thanks for updating me. Please keep in touch my friend. <img src="i/expressions/face-icon-small-smile.gif" border="0">
I wish I had someone next to me to figure out how to work all these private features and how to get my paragraphs seperated when I write a message. I do not have the patience or time to read through them now but one day I will figure it out. My son's surgery was long but went well. His cysts were extensive so his recovery will be longer than anticipated. My consult also went well. The specialist recommended a follow up in 6 months with some additional tests to be performed at that time. Then if everything looks the same we will continue to monitor. I am glad she is being cautious but attentive to the situation. So, I will put it on the back burner for 6 months then follow up with her then.
Did your doctor recommend hypertonic saline for you? It might be good for helping to cough out the mucus plugs. I recently went on it and it does help to make a productive cough. I especially find it helpful in the mornings. I know the pulmozyme thins the mucus and I have been on it for many years but the HS I found imeadiately beneficial.
Do you like your doctor? Is he a CF doctor? I hope I am not asking too many questions and answer just what you want and ignore the rest. One month of antibiotics is not a long time. You must be happy with that. It sounds like your sputum culture results were very good.
When you get The Vest you can use it while you are on the computer which is what I do. Finding time to incorporate all these new treatments can be a pain but the benefits are worth it so make a schedule and do your best to stick to it.
Good to hear that your pancreas it working fine and that you will be doing monthly checkups untill things get in a groove. This is really smart.
From what you wrote your news does sound very good but I understand it is also a new way of life for you and adjustments need to be made and that is a pain to get used to. But soon enough you will get used to them and what is most important is that you will be feeling overall healthier and that will make all this worth it. Thanks for updating me. Please keep in touch my friend. <img src="i/expressions/face-icon-small-smile.gif" border="0">
Janet,
Good to hear about your son and you. It all sounds encouraging.
I do like my doctor but he is not a cf doctor, he does have experience with cf however. He didn't mention the saline, just pulmozine and albulerol. My cough is pretty productive as it is so maybe that is the reason. I do think it is important for him to get to know my body better because his view of my condition is bleaker than reality. He said that I will have more limitations than the average person but I disagree. I can still ride my bike 50 miles or more at a time and I have a normal average speed for an average biker. I have always pushed myself and my limits and I think that is part of the reason I have been so healthy for so long. I truely am a work horse. I just have to watch myself so I don't overheat and throw off my electrolytes here in the heat of Texas. I know my body well though and take time to recharge when I need it.
I hope you keep me up to date with the events of your life and health. Your friend, Doug
Good to hear about your son and you. It all sounds encouraging.
I do like my doctor but he is not a cf doctor, he does have experience with cf however. He didn't mention the saline, just pulmozine and albulerol. My cough is pretty productive as it is so maybe that is the reason. I do think it is important for him to get to know my body better because his view of my condition is bleaker than reality. He said that I will have more limitations than the average person but I disagree. I can still ride my bike 50 miles or more at a time and I have a normal average speed for an average biker. I have always pushed myself and my limits and I think that is part of the reason I have been so healthy for so long. I truely am a work horse. I just have to watch myself so I don't overheat and throw off my electrolytes here in the heat of Texas. I know my body well though and take time to recharge when I need it.
I hope you keep me up to date with the events of your life and health. Your friend, Doug
Biking 50 miles! Awesome Doug! I'm a treadmill girl myself but the longest I have walked is only 12 miles. I like walking inside because I have air-conditioning. The heat really gets to me over a period of time. Texas has got to be hot so good to hear you are careful. Thanks for caring Doug. Stay active and cool! <img src="i/expressions/face-icon-small-cool.gif" border="0">
Woops, I forgot to finish typing before I posted.
This feature is above every single poster's thread/response (except on anonymous posters). Find a post from the person you want to PM, click on this feature and it will open up a window where you can write to them.
Janet, have you talked to Bill about the spacing????
Have you tried double spacing your responses? Just an idea, thought i'd toss it out.
This feature is above every single poster's thread/response (except on anonymous posters). Find a post from the person you want to PM, click on this feature and it will open up a window where you can write to them.
Janet, have you talked to Bill about the spacing????
Have you tried double spacing your responses? Just an idea, thought i'd toss it out.