The Normal Progression of Cystic Fibrosis
Cystic Fibrosis is a genetic disorder and a phrase I learned on CF lists years ago was the normal progression of CF. That means you get steadily worse until it kills you, usually at a fairly young age.
And that's not what happened with me. I got diagnosed in my mid thirties with a relatively mild form of that they labeled Atypical Cystic Fibrosis and I've been getting better for the past twenty years.
So the nutshell version is that I believe the normal progression of CF is a positive feedback loop (AKA a vicious cycle).
On October 25, 2006, I began searching the internet trying to understand why a particular supplement I was taking was such a big deal. That led me down a major rabbit hole and those notes are here.
That supplement was gifted to me by a friend who had a medical background. She was instrumental in helping set me on a path to recovery.
It was a glyconutrient and it made a big impact on me. I took like one teaspoonful a day and it soon became apparent that if I missed a single dose, I was immediately on a downward spiral.
So I was wondering why that was. What was it about this nutrient that made such a big difference to my ability to function?
I started off looking at glycoproteins. I learned that these structures play a large role in the immune system and then I began looking at protein folding, which I wasn't familiar with.
Your DNA is a template that stamps out strings of proteins coded in a particular sequence. Once the string of proteins has been sequenced, it typically folds up into a particular shape. These little strings of proteins that get folded up are the tools the body uses to make things happen at the cellular level.
The CFTR -- the defective cell channel that is the root cause of all the havoc for people with CF -- is one of those folded up little proteins. It gets folded into a shape that the body uses to sort molecules and decide which ones to let through, into or out of the cell.
Protein sequences can misfold under certain conditions or fail to fold. Two primary conditions that cause protein misfolding are high acidity and salt derangement in the cell.
These are both significant issues for people with CF. Ergo, you can assume that protein misfolds are an important part of the pathology of CF and my experience suggests this issue is reversible if you treat those specific chemical imbalances at the cellular level.
So you get a string of proteins that the body planned to use as a wrench and now it's basically a hunk of melty junk metal, so to speak. It's useless. It can't perform its function.
Now the body has to expend additional energy to "melt down" this useless hunk of junk cluttering up the very busy cell interior -- to separate all the building blocks and re-use them.
Some proteins can be refolded if conditions improve and some cannot.
Some drugs used to treat CF get results by simply increasing the number of CFTR protein channels the body produces. So my impression is that we pretty well know that the body makes fewer and fewer of them over time as you get sicker and sicker and that reversing that helps reverse your symptoms and stabilize your health.
So part of what I have done is reversed the high acidity of my body and addressed the salt derangement. And I did that in part by taking $300/month of supplements for some years.
I thought I would ALWAYS need to take hundreds of dollars per month of supplements, but that's a good deal compared to the hundreds or even thousands of dollars per month worth of drugs people with CF typically take. It at least didn't have drug side effects and I was actually healthier that way, not just doing symptom management.
To my surprise, my symptoms actually began to reverse. My health became more stable and I stopped needing so many supplements and eventually stopped using supplements altogether.
So I think what happens is that the defect in the CFTR promotes high acidity and salt derangement, those two factors promote protein misfolds, now you have fewer functional CFTRs which makes the acidity and salt derangement worse which makes more proteins misfold etc.
AKA Positive Feedback Loop AKA Vicious Cycle.
So if you reverse the acidity and salt derangement, you at least don't misfold the CFTR proteins that your body is producing. Your CFTR is still defective, so you still have a bottleneck in the system, but it isn't getting steadily narrower and more gunked up. So you can escape the vicious cycle where the sicker you get, the sicker you get.
If you can live life such that you don't overwhelm that bottleneck and create a bunch of problems, you don't have to suffer the normal progression of CF. You can learn to do things that don't involve the body trying to shove tons more stuff through that narrow bottleneck than has any hope of ever passing through it while that bottleneck grows narrower and narrower and narrower.
How easily and how well you can potentially do that will depend in part on the exact mutations you have. Some mutations are sort of the CF equivalent of being an albino: Some people with CF outright lack a CFTR channel entirely. I imagine that's a whole different ballgame from what I am dealing with.
I'm much healthier than I used to be but the price is I can't do just whatever I want. I have permanent dietary and lifestyle restrictions that I must abide by in order to stay off the drugs that I used to take and which are the norm with CF.
I sort of think of it as living like a kosher Jew. I can't do what other "normal" people do, but that doesn't mean I can't have a full life.
I don't resent those restrictions. It's better than the way I had.
And that's not what happened with me. I got diagnosed in my mid thirties with a relatively mild form of that they labeled Atypical Cystic Fibrosis and I've been getting better for the past twenty years.
So the nutshell version is that I believe the normal progression of CF is a positive feedback loop (AKA a vicious cycle).
On October 25, 2006, I began searching the internet trying to understand why a particular supplement I was taking was such a big deal. That led me down a major rabbit hole and those notes are here.
That supplement was gifted to me by a friend who had a medical background. She was instrumental in helping set me on a path to recovery.
It was a glyconutrient and it made a big impact on me. I took like one teaspoonful a day and it soon became apparent that if I missed a single dose, I was immediately on a downward spiral.
So I was wondering why that was. What was it about this nutrient that made such a big difference to my ability to function?
I started off looking at glycoproteins. I learned that these structures play a large role in the immune system and then I began looking at protein folding, which I wasn't familiar with.
Your DNA is a template that stamps out strings of proteins coded in a particular sequence. Once the string of proteins has been sequenced, it typically folds up into a particular shape. These little strings of proteins that get folded up are the tools the body uses to make things happen at the cellular level.
The CFTR -- the defective cell channel that is the root cause of all the havoc for people with CF -- is one of those folded up little proteins. It gets folded into a shape that the body uses to sort molecules and decide which ones to let through, into or out of the cell.
Protein sequences can misfold under certain conditions or fail to fold. Two primary conditions that cause protein misfolding are high acidity and salt derangement in the cell.
These are both significant issues for people with CF. Ergo, you can assume that protein misfolds are an important part of the pathology of CF and my experience suggests this issue is reversible if you treat those specific chemical imbalances at the cellular level.
So you get a string of proteins that the body planned to use as a wrench and now it's basically a hunk of melty junk metal, so to speak. It's useless. It can't perform its function.
Now the body has to expend additional energy to "melt down" this useless hunk of junk cluttering up the very busy cell interior -- to separate all the building blocks and re-use them.
Cool video that can help you envision proteins being sequenced and so forth, but utterly misrepresents cells as lots of open space and things going in slow motion. In reality, they are very crowded and small molecules whiz around at 250 miles per hour inside a microscopically small space.
Some proteins can be refolded if conditions improve and some cannot.
Some drugs used to treat CF get results by simply increasing the number of CFTR protein channels the body produces. So my impression is that we pretty well know that the body makes fewer and fewer of them over time as you get sicker and sicker and that reversing that helps reverse your symptoms and stabilize your health.
So part of what I have done is reversed the high acidity of my body and addressed the salt derangement. And I did that in part by taking $300/month of supplements for some years.
I thought I would ALWAYS need to take hundreds of dollars per month of supplements, but that's a good deal compared to the hundreds or even thousands of dollars per month worth of drugs people with CF typically take. It at least didn't have drug side effects and I was actually healthier that way, not just doing symptom management.
To my surprise, my symptoms actually began to reverse. My health became more stable and I stopped needing so many supplements and eventually stopped using supplements altogether.
So I think what happens is that the defect in the CFTR promotes high acidity and salt derangement, those two factors promote protein misfolds, now you have fewer functional CFTRs which makes the acidity and salt derangement worse which makes more proteins misfold etc.
AKA Positive Feedback Loop AKA Vicious Cycle.
So if you reverse the acidity and salt derangement, you at least don't misfold the CFTR proteins that your body is producing. Your CFTR is still defective, so you still have a bottleneck in the system, but it isn't getting steadily narrower and more gunked up. So you can escape the vicious cycle where the sicker you get, the sicker you get.
If you can live life such that you don't overwhelm that bottleneck and create a bunch of problems, you don't have to suffer the normal progression of CF. You can learn to do things that don't involve the body trying to shove tons more stuff through that narrow bottleneck than has any hope of ever passing through it while that bottleneck grows narrower and narrower and narrower.
How easily and how well you can potentially do that will depend in part on the exact mutations you have. Some mutations are sort of the CF equivalent of being an albino: Some people with CF outright lack a CFTR channel entirely. I imagine that's a whole different ballgame from what I am dealing with.
I'm much healthier than I used to be but the price is I can't do just whatever I want. I have permanent dietary and lifestyle restrictions that I must abide by in order to stay off the drugs that I used to take and which are the norm with CF.
I sort of think of it as living like a kosher Jew. I can't do what other "normal" people do, but that doesn't mean I can't have a full life.
I don't resent those restrictions. It's better than the way I had.
