mom2lillian
New member
I reside in "CF House
greatbay-I tihnk your doctor is being neglectful if he believes you are showing the CF symptoms --which you are! and he hasnt ordered a full panel screening. It is very possible you passed of the mutation that was able to be detected to your daughter and that you have an additional more rare mutation yourself (if this is the case after testing your children should also get a full panel). Anyway I woudl contact CF center immediately and demand testing, I will list the information for the test you need below and a contact #, if you fill out a pre-authorization form they will respond back to you or your doctor depending on who does it within 2 hours usually. If you are denied because Ambry is out of network then there may be a loophole (this happened to me) and in my case it is covered if I get it drawn at a hospital.
At my CF clinic the director is a female who lost her son to CF in the 70's. She became very involved in CF and was our director for a long long time. She had always had a bit of a cough and they had tested her for CF out of curiousity before with full panel and it was always negative. She fell ill with pneumonia and bronchitis a couple tiems in a year so our doc said well lets get a sputum on you and sure enoguh it came up with Pseudomona A and so they sent out for another full panel and sure enoguh she came up as having CF! She was in her early 60's! She has had to give up her position as director and does other wokr for clinic now but she is very happy to be dx.
This late dx is happening more and more and every year they are able to add more and more mutations that they find to the panel. My 2nd mutation was not able to be found so they dx me symptomatically and there is no reason they cannot do this for you as you are far worse than I was at dx, they did a full panel on me about 2-3 years alter and were able to come up with the 2nd one as it had just been found and classified as a CF mutation within past few years.
Take care and be your own advocate!
greatbay-I tihnk your doctor is being neglectful if he believes you are showing the CF symptoms --which you are! and he hasnt ordered a full panel screening. It is very possible you passed of the mutation that was able to be detected to your daughter and that you have an additional more rare mutation yourself (if this is the case after testing your children should also get a full panel). Anyway I woudl contact CF center immediately and demand testing, I will list the information for the test you need below and a contact #, if you fill out a pre-authorization form they will respond back to you or your doctor depending on who does it within 2 hours usually. If you are denied because Ambry is out of network then there may be a loophole (this happened to me) and in my case it is covered if I get it drawn at a hospital.
At my CF clinic the director is a female who lost her son to CF in the 70's. She became very involved in CF and was our director for a long long time. She had always had a bit of a cough and they had tested her for CF out of curiousity before with full panel and it was always negative. She fell ill with pneumonia and bronchitis a couple tiems in a year so our doc said well lets get a sputum on you and sure enoguh it came up with Pseudomona A and so they sent out for another full panel and sure enoguh she came up as having CF! She was in her early 60's! She has had to give up her position as director and does other wokr for clinic now but she is very happy to be dx.
This late dx is happening more and more and every year they are able to add more and more mutations that they find to the panel. My 2nd mutation was not able to be found so they dx me symptomatically and there is no reason they cannot do this for you as you are far worse than I was at dx, they did a full panel on me about 2-3 years alter and were able to come up with the 2nd one as it had just been found and classified as a CF mutation within past few years.
Take care and be your own advocate!