Newly diagnosed

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nikkig

New member
Rob
I am new to all of this too...my niece was diagnosed with cf about 3 months ago. She had all the symptoms, but we were just unaware of the disease. She was given a sweat test and from my understanding her level was 100 and anything over 40 is cf...I could be wrong...I am also curious to know now if she had the gene test I am really curious now that I read everyones, and would like to know what her mutations are. I also thought I asked my dad about there being mild cases and I remembering him saying if you have it you have it...there is no better or worse cf...maybe just symptoms?....or maybe he meant if your sweat test came bak 60 or 100 it is still cf?... like I said I am still confused about everything too, but I would definitally go to a cf specialtist my niece was sick for since she was born...her regular doctor didn't even send her to the specialists...it wasn't until she was rushed to the hospital because she was having trouble breathing that they finally decided she was doing any better thay were sending her for tests...and that also told us don't worry she doesn't have, this is just to rule out the bad things. My sister was not worried at all and she did have it after all....Bottom line I don't regular doctors know to much about cf....especially because most peditrtions are getting old and never learned anything about this...if they did my niece would have been going for these tests sooner. Good Luck and let us know how you are doing. ok.

Nicole 23 w/o cf
Alexis 13 months w/cf
 
N

nikkig

New member
<img src="i/expressions/face-icon-small-happy.gif" border="0"> sorry about all the spelling errors it's still early...haha
 
B

beyerdug

New member
Rob,

You need to take care of yourself if you have symptoms or not. I was diagnosed with cf when I was 7 because my sister was diagnosed. That was almost 34 years ago and I just now am starting to have symptoms. I went into denial about the disease when I became an adult because I was very healthy and never had symptoms. My sister suffered miserably and in my mind I thought there was no way I had cf. That was before the genetic testing and I am out dated with my knowledge. The bottom line is that I went into denial and didn't take care of myself and I feel like that is why I am now having symptoms at 40 for the first time. Take care of yourself, see a cf specialist, and if you have cf, confront it now. Best of luck!
 
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anonymous

New member
Rob,
My husband was diagnosed at age 32, and your case sounds a lot like his. Please email me at cfwife@excite.com and I will share our story.

Nancy
 
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julie

New member
Rob, In dittoing what others have said about the infertility doc (where does he get off telling you that you don't have CF anyways???!?!) I will say that there are people out there who do have 2 mutations (and ANYTIME you have 2 mutations, YOU DO have CF) who have lived life symptom free. They do go in for periodic check ups (chest xray once a year, sputum culture once or twice a year) just to be sure that there isn't a very very or later in life progression. This "type" of CF may not be new. but disvovering the 5T variant and the "dormant" mutations are and there is still a lot that is unknown about the whole situation. you are a very lucky man though <img src="i/expressions/face-icon-small-smile.gif" border="0">!

As craig mentioned, it does have something to do with the 5T variant, which they are researching further right now, and being that you don't have the 5T variant is good for you (good according to what's known now, that 5T is a trigger for classic CF symptoms).

I would encourage you to go in to a CF center though.
 
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Rob9874

New member
Thanks everyone. I am definitely going to a CF center, and want to get regular checkups, just to monitor everything. But I realize I am very lucky having the mutations that I have, and no 5T variant. I feel like I know as much about CF now as most doctors (and obviously more than my infertility doctor).

Everything I've read pretty much says the same thing. This website sums everything up pretty well: <a target=_blank class=ftalternatingbarlinklarge href="http://sciencedaily.mediwire.com/main/Default.aspx?P=Content&ArticleID=139654">http://sciencedaily.mediwire.c...ntent&ArticleID=139654</a>

<div class="FTQUOTE"><begin quote>The same concepts are useful for understanding congenital absence of the vas deferens. Men with CBAVD have normal pulmonary and pancreatic function; their only clinical similarity to CF is vasal agenesis. The first recognition of their condition may be when they present as the male partner in an infertile marriage. Although they are free of most symptoms of CF, 65% to 80% of men with CBAVD have at least one detectable mutation or abnormality in their CF alleles. This is obviously higher than the known carrier frequency in the general population and demonstrates that many cases of CBAVD are mild phenotypic expressions of CFTR dysfunction. </end quote></div>

Thanks again for all your support and advice.
 
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julie

New member
Rob, are you and your wife going to pursue infertility treatment?

Lisa, is the 7T variant like the 5T where it is sort of a trigger as well? Just curious.
 
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Alyssa

New member
My kids are both 7T (R117H) and when the doctor explained what that meant to me, I said it back to him and this is how I understood it -- I said
"so they have a screwed up gene that causes things to not function right, but of the different T things, 7 is the best you can have because it allows that screwed up gene to function as close to normal as possible" he said "yes" So that is my understanding -- not very scientific I know :)

At the time I thought I understood that there was a 5T & 7T and 7T meant is was "higher functioning" meaning working better -- years later I think he said something about a 9T also being possible, (for people to have - not that my kids had it, we are sure they are 7T) so I don't know if 7 is the highest or not.

Clear as mud yet?
 
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JennifersHope

New member
this place is so full of information.. I learn something new everyday,, Now if only ppl would post about what was on my test tomorrow, I am sure I would ace it...

oh I was posting.. no yelling at me for not studying.. everyone who just banned me from chat to do homework because my CF nurse just emailed me She kicks butt... and in her email she was saying about my new job etc and that I had an a-typical cf gene type too

I am part of the atypical group


Okay night
 
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anonymous

New member
Hmmm..well I know I have the Delta F508 and the R117H, but I have no idea if I am a 5T, 7T, or 9T. In fact, I never knew those existed until yesterday! (Unless you told me about them before Alyssa, but I can't remember). I think I just might have to call the CF clinic tomorrow and find out. Very interesting!
 
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julie

New member
Ok, that makes sense to me. I just find all this stuff about the mutationsso very interesting. I hope they get on with these modifier and variant genes research because I want to know all of this.... it is just so fascinating.
 
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Rob9874

New member
FYI, for those who want to know more about the F508/R117H and 5T & 7T details. This site was very informative (and detailed). <a target=_blank class=ftalternatingbarlinklarge href="http://www.findarticles.com/p/articles/mi_qa4085/is_200401/ai_n9407607">http://www.findarticles.com/p/.../is_200401/ai_n9407607</a>

<div class="FTQUOTE"><begin quote>Most men with CF are infertile because of obstructive azoospermia due to bilateral absence of the vas deferens. Mutations in CFTR are also common in otherwise healthy men with congenital bilateral absence of the vas deferens (CBAVD) presenting with infertility. In addition, the 5-thymidine (5T) variant of the CFTR intron 8 polypyrimidine T-tract length is frequently present in men with CBAVD. The 5T variant causes less efficient splicing of CFTR exon 9 compared with the more common variants 7T and 9T, resulting in reduced CFTR expression. Thus, it has been suggested that CBAVD may represent a mild form of CF.</end quote></div>
 
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kitramirez79

New member
Well I'm glad for you that you've never had any problems, etc.. But what the doctor told you about your parents, that's not even so...The CF clinic where I take my boys too...The social worker told me that their doctor is 60 yrs and has cf....and their doctor will tell you, that the age thing about how long people will live...That's ONLY a number...they are only guessing...and actually the way I look at it..No doctor can or ever will be able to tell you how long any one person has to live...There is only one person that knows that, and he's right up stairs.....
I wish you all the best....
 
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kitramirez79

New member
Well I'm glad for you that you've never had any problems, etc.. But what the doctor told you about your parents, that's not even so...The CF clinic where I take my boys too...The social worker told me that their doctor is 60 yrs and has cf....and their doctor will tell you, that the age thing about how long people will live...That's ONLY a number...they are only guessing...and actually the way I look at it..No doctor can or ever will be able to tell you how long any one person has to live...There is only one person that knows that, and he's right up stairs.....
I wish you all the best....
 
K

kitramirez79

New member
Well I'm glad for you that you've never had any problems, etc.. But what the doctor told you about your parents, that's not even so...The CF clinic where I take my boys too...The social worker told me that their doctor is 60 yrs and has cf....and their doctor will tell you, that the age thing about how long people will live...That's ONLY a number...they are only guessing...and actually the way I look at it..No doctor can or ever will be able to tell you how long any one person has to live...There is only one person that knows that, and he's right up stairs.....
I wish you all the best....
 
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