mutations

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wanderlost

New member
I was wondering if people might give me a brief list of their mutations and a health assessment (like: have had transplant; PFTS are in this range; have B. cepacia or pseudenomas; etc.) . I ask for a few reasons: 1) curiosity; 2) I know I am delta f508 and that my other mutation (I think) is an S something - like S517, but I can't remember, so I thought someone might have the same to jog my memory. Thanks <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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anonymous

New member
Mutation: Double delta f508
Although the rumor is its the worst, this is not so in my daughters case.
Lynsey - mom to Avery 2yrs. w/CF and Rhett 7 mos. no CF
 
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anonymous

New member
Mutation: Double delta f508
Although the rumor is its the worst, this is not so in my daughters case.
Lynsey - mom to Avery 2yrs. w/CF and Rhett 7 mos. no CF
 
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anonymous

New member
DeltaF508/1898+1G>A

I have pseudenomas, as well as ABPA.
PFTs are quite good considering the amount of infections I get - between 60%-80%.

Laura
 
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EmilysMom

New member
Laura,
I think you have talked to Emily about this, but you have the same mutations that she does.
She has (I think) three strains of pseudomonas right now and the doc just put her on Tobi and Cipro yesterday (I think those are the meds)

Her health right now sort of sucks. She is not going to school this semester so she can try to get healthier again to go back to school in the Spring.
 
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anonymous

New member
<blockquote>Quote<br><hr><i>Originally posted by: <b>EmilysMom</b></i><br>Laura,

I think you have talked to Emily about this, but you have the same mutations that she does.

She has (I think) three strains of pseudomonas right now and the doc just put her on Tobi and Cipro yesterday (I think those are the meds)



Her health right now sort of sucks. She is not going to school this semester so she can try to get healthier again to go back to school in the Spring.<hr></blockquote>


Hi
I'm not sure how many strains I have at the moment - but I've just started on TOBI too (last week) and I've just finished a course of IVs (ceftaz and meropenem).
I'm moving away to university on sunday - I'm hoping I can keep well - I'm getting some support (non-medical helper, desktop computer for my room...) so I'm just going to take it easy and try and enjoy it!
Does Emily get a lot of infections? I normally need IVs every 6-8 weeks.

Laura xxx
 
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ClashPunk82

New member
My mutations are double copies of E60X. My brother has the same also since my parents have double copies of it. My mom always said she married my dad for a reason! <img src="i/expressions/face-icon-small-tongue.gif" border="0"> And my PFT's are in the low 20's and I am in the process of being evaluated for a lung TX. I grow Staff, Pseudomonas and I have MRSA. Woo Hoo! <img src="i/expressions/face-icon-small-happy.gif" border="0">
 
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Emily65Roses

New member
Blah de blah blah.
My mom was right, I'm on Cipro and Tobi, but I'm on IV Tobi, not inhaled.
My mutations are the same as Laura's, yes. Delta F508 and 1898+1G>A.
My PFTs tend to hover right around 70%.
I grow 3 or 4 pseudomonas, staph sometimes, and I had MRSA a few years back (they still isolate me for it... but I haven't cultured it since 01, so I never know whether or not to include it haha).

Oh and I go on IVs roughly twice a year. Last year was June and August, this year was June and September.
 
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ClashPunk82

New member
Twice a year that's pretty good Emily. I go in maybe 5-6 times a year. BLAH! <img src="i/expressions/face-icon-small-tongue.gif" border="0">
 
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ccflewallen

New member
The only mutation I am aware that I have is Delta F508. Does everyone have more than one mutation? You guys know way more about this stuff than I do. Guess I need to read up more. Most recent PFTs were in the 90's but dont remember exactly. No transplants, no tune ups, no cepacia, nine days od antibiotics in"02 for coughing up blood. Had pneumonia when I was two. I am 26 now and I know if I do not get my butt in gear and exercise more, my PFTs won't be that good next time.

By the way, does it get on anyones nerves when a "healthy" CFer shares their CF experience. I can see why it would, however, for a very young person with CF (and thats what I do, work with children and teenagers) I hope to encourage them. It can be tough and depressing for a young CFer to hear about all this if all they hear is cepacia, transplant, cathaport, TOBI, blood, pseudamonas, etc. I realize that I am fortunate and want other youngsters to be positive about their future. I have got to be getting on Mockingbirds nerves by now so I will stop.

Please dont assume that because I talk a good talk that I havent had my share of troubles with CF and other stuff. Again, for me, having a positive outlook has been one of my strengths (among many many weaknesses).



ccflewallen
 
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EB24

New member
Delta f508 is the most common among caucasions. I read that.
I have that one and can't remember the other.
 
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wuffles

New member
I have double delta F508.
FEV1 around 100%.
Have cultured pseudemonas for a few years, but nothing else <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
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Emily65Roses

New member
"The only mutation I am aware that I have is Delta F508. Does everyone have more than one mutation?"
If you have CF, you have two mutations. In order to be born with CF, you must receive one mutation from your mother and one from your father. They can be the same mutation, but then you have two copies.
 
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ccflewallen

New member
Another brain freeze on my part. So mutation and gene are interchangeable terms in this instance. Duhh! Well, my wife informed me that I have the double F508, which by the way I do not think is the worst one to have. If I were to guess, having two different mutations probably causes the most complications. Just my guess.

ccflewallen
 
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serendipity730

New member
I am a double delta F508 (which, it has recently been brought to my attention, sounds like a plane flight) Right now, my pft's are in the 80's, after a recent boost for hypertonic saline. Before that they were in the low 70's. I grow pseudomonas, S. maltophilia, and used to grow aspergillus.
 
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anonymous

New member
actually if you have two different mutations the less severe of the two wins out. so if you have delta F508 which is usually pancreatic insufficient and a different mutation that is pancreatic sufficient your pancreas will be sufficient.
 
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