WTF, Why are we all so different?

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Blue

New member
So, I'm really curious if any of you have thoughts on this. I've been searching the forum lately looking at genotype and age compaired to FEV and we appear to be ALL OVER the place. I read about an older gentleman in his 50's who's FEV is 100 (or so) and his brother with CF died in the 70's. What did he do that his brother didn't? Some 20 year olds with FEV in the 20's and some 50 year olds with FEV's in the 100! By the way, I'm 30 and my FEV is right around 50% I have double DF508 - I also had 2 children.

Granted, some of us do our treatments a little more often than others, or perhaps some excersize more regularly, possibly take more vitamins...but really, the differences in our FEV's shouldn't be that different at any given age, should they? All the docs are dosing out the same drugs and recommendations and we're all pretty anal about doing whatever it takes to beat this at the same time balancing that with life.

Will some of us just decline faster. period? Do some of us know how to fool the machine?

Thoughts?

Really, I might just want all you with FEV nearing 100% to tell me your secret!
 
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welshwitch

Guest
This is a question that I have grappled with all of my life. I have asked doctors, researched, etc. and never came up with a solid answer.

The only way that I can think about it now, is this:

CF is a spectrum. Yes, it is a genetic condition, but (now time for the cliche!) it affects everyone differently. Modifier genes also play a role. Access to health care. Compliance.

But the core question, "why are we all so different" continues to bother me today. When you have a disease like CF , it is extremely confusing. Growing up, I have gotten so many mixes messages. From, "You won't live to see 30" to "You will be an old lady." I asked my doctor point blank how many years I will live, and he couldn't give me a straight answer.

I live my life on a tentative timeline. The way things are going now, I still plan on getting married, having kids, working until I retire, buying a house, etc. But, things may change, and I'm trying to accept whatever my body has in store for me.
 
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Valerie Keith

New member
I'm not sure what to say but i thank u both, umm, i dont have CF, but my son does, and i know it is different for everybody. i as a new mom to CF dont no what to think, but to hear and listin to u all it make me feel better bout my son. Hes 10 weeks old and has never left the hosp because of his intestines. His lungs r doing great, not a prob anywhere.
 
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jbrandyn

New member
I could spend hours talking about this. I will not. I will say that we have our humanity in common; an inalienable dignity and worth to each of us and a sense of caring and compassion for others despite our cf we are human and thus have very similar experiences. It get really complicated really fast when we get into the hows and whys of it though. lol.
 
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BikerEd

Guest
I don’t have an answer for you. My younger brothers both passed young. Timothy was sick from birth, fought four years. Mathew always under weight, and hated eating (didn’t help) made 8 years; fluke virus took him out. They both would have been better men, than me. I was sick a lot as a kid (birth to 12) then it slowed to once a year (12 to 19) waaay slowed in my twenties to thirties, and went almost ten years without an admit or home IV. Recently turned 40 FEV where in the trashcan just before , weight way down, got on Kaly, things shifted back again. Have heard of people that where kalydeco did’nt do jack for them. It could be determination, it cold be genitics, and it could be a combo. I’ve meet guys that have great health; in two years were gone, I’ve meet guys that where told they had two years and did all sorts of stuff on their own and have made it ten past. Nobody gets in their car for work in the morning and say’s “Oh this is the day a Tractor trailer runs over me”. Well I’m rambling so I’ll just put this way. It’s a Sh#tty F$%king Disease that doesn’t make sense no matter the science, I just make the decision to fight I may lose but I will fight.
Best of Luck
Ed
 
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JENNYC

New member
Wow Ed!! I had no idea!! I am sorry to hear about your brothers!! Your poor parents, luckily they have you. And just from what I have learned through your post you seem to be quite the comedian! Glad to hear the Kaly is working for you!!

I also wonder if attitude has anything to do with how healthy you are? You know the saying it takes more energy to frown than to smile. :) Just a thought.
 
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Ratatosk

Administrator
Staff member
Always thought it had to do with age of diagnosis, proactive vs. reactive treatments/clinics, whether you culture a certain bug, whether you get the flu or some other virus... Unfortunately it's the luck of the draw. Locally there's a child who's a year older than mine, same mutations, has always been active in sports, relatively healthy, religious about vest treatments and he's just been listed for a double lung transplant.
 
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Twistofchaos

New member
It's kind of a chaos theory thing. The CF is there but when actual damage is triggered or how something manifests is dependant on one million other factors (^2) and impossible to predict. The whole rest of your whole genepackage (certain bodytypetraits would be more susceptible to CF influence than another etc.) , conditions when growing up, catching that detrimental flu that year or not, so many things. Ofcourse treatment is a factor but it's far from the whole story.
 
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Printer

Active member
There are approximatly 1800 known mutations and it takes 2 mutations to have CF. If we multiply 1800 X 1800 we find that there are 3,240,000 possible combinations of mutations. Allowing for common combinations, say that the field was only 10% of possible known mutations, there would still be 324,000 variations of CF. Now add situations where twins having the same combinations and are raised in the same enviroment (food, medical care etc) have a different effect and even a different lifespan, if is amazing that any two of us are the same.

Bill
 
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Melissa75

Administrator
Here is one way to look at it:
My sweat test is 9 or 11 (I can't remember). No CF. Yet, my whole life my BMI has been close to underweight despite heavy eating (complete with the accusations of bulimia from high school counselors). I have had serious environmental allergies since I was a young kid, asthma, repeated pneumonias, and by my late twenties, the bronchiectasis diagnosis.

Now, imagine with this digestive and autoimmune and inflammatory profile, I also happened to have two CF mutations. I'm pretty sure I would simply do significantly worse than someone with the exact same mutations, exercise, diagnosis age and adherence.
 
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albino15

New member
This is one question it seems nobody can answer right now, I know that some doctors are looking into this whole genetic modifiers thing (the idea that some other mutation controls or influences the severity of CF in some people.) when I found this site I realized that CF is a strange disease and there must be something that the experts just haven't figured out yet.

That being said, it seems that there is variability in every illness because every person is built a little different.
 
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BreathinSteven

Guest
Hey Blue!!!

This is one of those situations where everyone is right... Printer spoke of 1800 mutations, and 3+ million combinations of those mutations... welshwitch spoke of a spectrum and different modifiers... ratatosk spoke of reactive vs proactive treatment... and Twistofchaos brought up chaos theory and Jenny introduced attitude... Our differences, I'm pretty sure, also have a lot to do with the paths we take in life...

I was diagnosed on my 13th birthday... My path was wildly different than so many of the other CFers I knew -- they were much more social with one another than I was -- and looking back, I can see that their infections became quite social too... I was incredibly lucky -- I had my share of infections, but not as many as some of the other CFers I knew and I managed to make it to 35-36 before I crashed & burned... And looking back -- I know there were acquaintences that were MUCH more proactive and attentive towards their health than I was, and they didn't make it through their teens or twenties -- and there were other CFers that were much less attentive than I was, and they're still chugging along -- it DOES seem baffling...

Sometimes it seems a matter of what bugs we catch, and where are immune systems are at that particular moment -- and how well we fight them off and gain strength for the next attack... And whether so many of the other potential complications do impact us, or we seem to dodge them... You and I can have the exact same mutations/modifiers/whatevers -- the same attitude, motivations, and very similar environments -- but one little difference, one little exposure to a minor bug, or one situations that notches our immune system down -- and we're spinning wildly down a different path...

And yes -- some of us will decline faster, while others of us stay stronger -- and for others, we might be able to fool or game the machines into appearing to look healthier... While others might not be giving 100% effort and appear to be more compromised than we actually are...

I don't think I was EVER around 100% FEV1 -- it would be a wonderful thing to be there with CF lungs, and I'm aware of some that are -- I went down on a pretty steady course until I was somewhere around 25% in my early 30s, followed by a couple of bad collapsed lungs that quickly took me down to 15%-10% in my mid 30s and then listed for transplant... I don't even know if it's something we can easily predict. I'm 52 now, and have watched a LOT of my fellow CFers -- and I've seen people in a tail-spin I never dreamed would pull out, and weeks later they're darn near back to normal... And people who seemed like they didn't even have CF, and months later I learn they've passed away -- WTF is right...

There are a LOT of suggestions that I did not heed -- that might have greatly delayed my getting a transplant... And there were probably lots of actions I took that helped matters greatly... All we can do is deal with what we're presented and hope for the best... Do everything you can to stay healthy, maintain weight and nutrition -- but also, don't forget to have fun, and rest when you're exhausted -- and live life in the best way you know how -- and try not to worry about what the future is bringing, until it's resting on your doorstep... I hope you're as lucky in life as I've been...

Love, Steve
 
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NoelA

New member
I heard of two sisters with CF. Their mother kept them in a bubble. She sanitized, homeschooled, was hyper-vigilant about their care in every way possible. One sister passed away at 9. The second sister was incredibly dissatisfied with her life and her mother decided that there wasn't much that she could do but let the living sister LIVE. That sister did everything that she could do to make herself happy. She did her treatments, but she also lived her life. She raised horses, she met a man and was married. She did the opposite of her younger sister and lived MUCH longer. Same genetics, different bodies.
It's annoying because we all want answers. "How long?" "What's the best way to deal with cystic fibrosis"? I think it all depends on what's best for you. CF is weird, draining, and just stupid. There aren't any cut-and-dry answers. Just little ways to tailor care to each individual's needs. Maybe a lot is based on the immune function, maybe the inflammatory response, maybe different med's, maybe genetics, or more likely, a combination of all of the above. We all walk a fine line between quality vs. quantity of life and those decisions are scary and so disheartening when we feel we made the wrong decision. "Do I go to the party when someone there might be sick?" "Do I send my child with CF to school?" "What did I do wrong? Why do I stay sick more than others?" Those questions are ALWAYS there for me. Always. To me, that's the beauty of this group. We can ask these questions of each other and get advice. Help the worry, heal the hurt. I don't post often, but I read your posts everyday and you all have helped me SO much. Thank you for that.
 
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Blue

New member
JENNYC - How did you convince the Dr's to let you try Kalydeco? Is it because Kalydeco been show to help with that mutation 2585delT? I have double DF508 and I begged to try it (because you never know, right?) and was told no.
 
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Blue

New member
Steve, your post was a great summation and very encouraging! And you're 52, well done my friend!
 
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Aboveallislove

Super Moderator
Blue,
I don't think a doctor would ever prescribe to a ddf508. The label expressly states it doesn't work for them. Now, if you were pancreatic sufficient or have a very low SC (less than 80), you might have a shot because then there is something else going on. Our son is ddf508 and I too I debated pushing too, but realized as much as I want it to work for ddf508, it isn't going too. And given label says doesn't work for ddf508 no insurance company will cover. Have you tried to get into any of the 809/661 studies???
 
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kgfrompa

Guest
I also have wonder why we are so different ,My take on it is God made me the way I am and I am supposed to be here as long as it takes for the journey to be complete what ever that this entails.We all have a battle with Cystic Fibrosis,I am blessed to know I am not the only one who has CF.I am Grateful for Today.
 
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CrisDopher

New member
In Newsweek a couple of issues ago, there was a short article on the recent discovery of what all our "dark matter" DNA does. About 85% of our DNA has been assumed to be junk - inactive, unimportant, filler material; leftovers from several billion years of evolution. But it isn't unimportant after all - it appears to be a large middle management system. DNA that tells the working DNA how and when to work. I am assuming that in the next twenty years, we'll learn so much more about how our basic CF genes are affected by all the dark matter DNA that the variability in symptoms will be easily explained, if not fixable.
 
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stephen

Guest
The Clinical and Functional Translation of CFTR (CFTR2) website http://www.cftr2.org/index.php is the product of Johns Hopkins and the CF Foundation. It contains statistics about many of the CFTR mutations and their combinations. (The information comes from those of us who gave our CF centers permission to share our data.)

The data shows that individuals with the same two mutations can have very different CF experiences. Obviously there are a lot more factors effecting CF than just the two mutations we have. I have found the site extremely interesting and educational. The data presented consistent with my mutations and experiences.

As is evident, genetic conditions like CD are extremely complex. We are only at the very beginning of understanding their genetic factors.

Stephen
70 Y/O with CF (G542X, D1152H) and Bronchiectasis
 
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