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Is it possible to have MILD CF?
- Thread starter harvey
- Start date
It is not totally unreasonable. A while back we had an older gentleman that was tested after he grandchild was dx & he found out that he also had CF. Now that there is a family history, anything is possible. You do however fall into the small % of CF men who dotn need medical assistance to have kid. At least I am assuming that IF you test + for CF!
Scarlett81
New member
I just had this talk with my cf team recently!!
As there's different levels of cf, there's different levels of mild cf. If you just have sinus problems-obviously that's pretty stinkin mild! <img src="i/expressions/face-icon-small-smile.gif" border="0"> As to mild lung disease-PFTs that fall from (I'm pretty sure of this #, but around....) 30 or less is severe disease. 40-65 is moderate. 70 or higher is mild lung disease.
I was in moderate category for years, and just moved up to mild this past winter. I hit 70, and have gone up to 75 and held it!
So, that's the best explanation I can give.
As there's different levels of cf, there's different levels of mild cf. If you just have sinus problems-obviously that's pretty stinkin mild! <img src="i/expressions/face-icon-small-smile.gif" border="0"> As to mild lung disease-PFTs that fall from (I'm pretty sure of this #, but around....) 30 or less is severe disease. 40-65 is moderate. 70 or higher is mild lung disease.
I was in moderate category for years, and just moved up to mild this past winter. I hit 70, and have gone up to 75 and held it!
So, that's the best explanation I can give.
There was talk a while ago about some testing going on regarding "symptomatic carriers". Meaning that one doesn't have CF, they just carry one mutation (as in your case) BUT they are somewhat symptomatic. I'm not sure who was doing the testing or if it was ever done, but I know there was talk of it.
It is also possible that you could have CF. You could carry the mutation you know about plus a rare mutation... There are many on this site and in the world who have very mild CF. Slight sinus problems or slight digestive problems but nothing really severe.
Welcome to the site Harvey, I hope we can be of help to you and for your newly diagnosed gradson!!!!
It is also possible that you could have CF. You could carry the mutation you know about plus a rare mutation... There are many on this site and in the world who have very mild CF. Slight sinus problems or slight digestive problems but nothing really severe.
Welcome to the site Harvey, I hope we can be of help to you and for your newly diagnosed gradson!!!!
Hi Harey --
Pretty much I have to say "ditto" to everyone else -- yes it is possible you have a very mild case (read my blog about my kids if you feel like it - they are mild)
Also it is entirely possible that you have carrier symptoms -- many people have mentioned this and I have read a study talking about the Delta F508 carriers typically having more sinus issues than people without the gene. My husband also has a lot of sinus issues -- I'm guessing he is the one with the Df508, but don't know for sure ~ he doesn't want to pursue any testing.
I think it is entirely appropriate to mention it to your doctor.
Best wishes, and welcome to the site!
Pretty much I have to say "ditto" to everyone else -- yes it is possible you have a very mild case (read my blog about my kids if you feel like it - they are mild)
Also it is entirely possible that you have carrier symptoms -- many people have mentioned this and I have read a study talking about the Delta F508 carriers typically having more sinus issues than people without the gene. My husband also has a lot of sinus issues -- I'm guessing he is the one with the Df508, but don't know for sure ~ he doesn't want to pursue any testing.
I think it is entirely appropriate to mention it to your doctor.
Best wishes, and welcome to the site!
hi Harvey,
yes this is possible, when you get the gene scenario round your head, you will have a clearer understanding. I myself have two R117H genes so genetically you could say that i have CF, but I have absolutly no symptoms, have had recent tests, ct scan , lung function.. all normal. The doctor has not dx me as cf, basically for insurance purposes. He will continue to look at me for maybe a couple of years, but dose not invisage me having any problems. Should say that I also smoked for 22 years, recently given up, because of my sons Cf
yes this is possible, when you get the gene scenario round your head, you will have a clearer understanding. I myself have two R117H genes so genetically you could say that i have CF, but I have absolutly no symptoms, have had recent tests, ct scan , lung function.. all normal. The doctor has not dx me as cf, basically for insurance purposes. He will continue to look at me for maybe a couple of years, but dose not invisage me having any problems. Should say that I also smoked for 22 years, recently given up, because of my sons Cf
Now this is a subject I know a lot about; both of my daughters
would have been considered carriers just 10 years ago. What
they now know is that CF is not the clear cut recessive disease it
was once thought to be. Certain heterozygotes, like my
daughters, do develop CF and/or CF-related symptoms. These
can range from what you describe (sinusitis), to "mild"
CF, to very serious cases. This range is a result of
what the scientific literature calls "modifier genes";
these are other genes that interact with the gene that produces the
CFTR protein that, in people with CF, is defective.<br>
<br>
The research on people in this category is only beginning. We have
heard of a doctor in Boston that specializes in these kinds of
cases, but in general it seems largely something that is still on
the research level. One of our frustrations is that the
answers to most of our questions about it is "we just don't
know" or "we will only know in hindsight."<br>
<br>
What I can tell you with great certainty is that having only one of
the CF genes can, contrary to the old way of thinking,
impact health, especially in relation to respiratory and sinus
issues. However, it is also true that a very large number (I
would assume a very large majority) will not experience any
serious, life-shortening effects. There are a smaller number
who, due to the effects of various and largely unknown gene
modifiers, do develop significant health problems, consistent with
CF. For this reason, there has been discussion in some
medical research journals about a label for this 'in-between'
condition. Some use the term "mild", atypical,
abnormal, or non-classic CF. but since even homozygous
CFers can be "mild", the term CFTR-related seems to be
one emerging alternative. But this is really a discussion
that is just beginning at the research level. I was only able
to find a handful of research studies, and they were all in the
past 5 years or so.<br>
<br>
From what you describe, I would think you would be considered as a
good candidate for the CFTR-related conditions category.
would have been considered carriers just 10 years ago. What
they now know is that CF is not the clear cut recessive disease it
was once thought to be. Certain heterozygotes, like my
daughters, do develop CF and/or CF-related symptoms. These
can range from what you describe (sinusitis), to "mild"
CF, to very serious cases. This range is a result of
what the scientific literature calls "modifier genes";
these are other genes that interact with the gene that produces the
CFTR protein that, in people with CF, is defective.<br>
<br>
The research on people in this category is only beginning. We have
heard of a doctor in Boston that specializes in these kinds of
cases, but in general it seems largely something that is still on
the research level. One of our frustrations is that the
answers to most of our questions about it is "we just don't
know" or "we will only know in hindsight."<br>
<br>
What I can tell you with great certainty is that having only one of
the CF genes can, contrary to the old way of thinking,
impact health, especially in relation to respiratory and sinus
issues. However, it is also true that a very large number (I
would assume a very large majority) will not experience any
serious, life-shortening effects. There are a smaller number
who, due to the effects of various and largely unknown gene
modifiers, do develop significant health problems, consistent with
CF. For this reason, there has been discussion in some
medical research journals about a label for this 'in-between'
condition. Some use the term "mild", atypical,
abnormal, or non-classic CF. but since even homozygous
CFers can be "mild", the term CFTR-related seems to be
one emerging alternative. But this is really a discussion
that is just beginning at the research level. I was only able
to find a handful of research studies, and they were all in the
past 5 years or so.<br>
<br>
From what you describe, I would think you would be considered as a
good candidate for the CFTR-related conditions category.