What is "Atypical Cystic Fibrosis"?
This page is intended to define the term atypical cystic fibrosis for my readers. It is being written because of an incident where I could not figure out the definition of a diagnosis used on Twitter, in spite of substantial searching and even finding myself on some "official" site for a non-profit for the condition.
Much of what I say here will not sound like what you typically hear about Cystic Fibrosis (CF) from popular or official sources, like Wikipedia or The CF Foundation. There are two reasons for that:
So it shouldn't surprise anyone that it contains my personal opinions about what my condition means to me and does not pretend to agree with official medical dogma in areas where I don't actually agree with such. If you want to know what official medical dogma says about Cystic Fibrosis, you will need to look that up somewhere else.
Cystic Fibrosis is a homozygous recessive genetic disorder. That means it requires a defective gene from both parents to cause the child to have the disorder.
A person with only one copy of the gene is a carrier. If they have children with either another carrier or a person with CF, they can produce a child with CF, but they don't actually have the condition themselves.
If two carriers have a child together, they have a 25 percent chance of having a child with CF, a 50 percent chance of having a child who is a carrier and a 25 percent chance of having a "normal" child who lacks the defective gene entirely.
If a carrier and a person with CF have a child together, there is a 50 percent chance the child will have CF and a 50 percent chance the child will be a carrier. There is no hope of a "normal" child being born to the couple.
If a person with CF has a child with a partner who has no CF genes at all, the child will be a carrier. If they have multiple children together, all of their children will be carriers. For someone with CF, the genes of their partner determine whether their offspring is a carrier or has CF because a person with CF is incapable of not passing on one of their two defective genes.
I was diagnosed with atypical CF in May 2001, just before I turned 36. The following month, they tested both my sons (who were 11 and 14 at the time). One son was also diagnosed with atypical CF. The other is a carrier.
Cystic Fibrosis actually causes substantial reproductive issues. I have had doctors express surprise that I had two biological children without any medical intervention in terms of fertility.
Years ago, I heard that 97 percent of men with classical CF lack a vas deferens, thus they have no means to deliver the sperm they produce without medical intervention. Women with CF also typically have trouble conceiving.
Understandably, the medical community tends to be somewhat reluctant to help people with CF successfully pass on their defective genes. Reproductive morality is a hot button topic in the CF community.
Some people feel a moral obligation to stop having children after having a child with CF because CF is classified as a dread disease. It is called that because what it does to your body and your life is horrifying in a "most people would not wish it on their worst enemy, much less their own child" kind of way.
Other than mostly dating low risk men during my divorce, I never personally wrestled with the questions of reproductive morality. I was spared that element of the disease because I did not have a diagnosis until well after I had children and already had no plans to have more.
I and my son were diagnosed based on sweat chloride results and medical history. Our sweat chloride results were both 41.
My understanding is that a score of 40 or below is considered "normal" and a score of 80 or more was historically considered to be Cystic Fibrosis. Historically, a score between 40 and 80 was an undefined grey zone.
At some point, they determined that people who scored in that grey zone had a milder form of CF. Articles I read around the time of my diagnosis indicated that people who got diagnosed with Atypical CF were usually incredibly relieved to finally have an answer after a lifetime of being treated like a hypochondriac, basically.
This was certainly true in my case. For me and my son, finally having the correct diagnosis has been incredibly empowering and we have grown a great deal healthier in the years since we were diagnosed.
"Asthma" is a common misdiagnosis for the condition. He and I both were given that label at one time. I always felt it was wrong, but I didn't argue it because it was getting us much-needed medical treatment. Because of the lung issues caused by CF, there is substantial overlap between treatment for asthma and treatment for CF.
But there is more to CF than just lung issues.
Cystic Fibrosis is best known as a deadly lung condition that accounts for about a third of all adult lung transplants in the US and about half of all pediatric lung transplants in the US. However, it significantly affects all mucous membranes and all epithelial tissues, not just the lungs.
Both of these classes of tissue include the lungs, but are not limited to the lungs. CF also very significantly impacts gut function, something the CF community is painfully aware of, but that gets relatively little press compared to the terrible lung issues it is known for.
About 85 percent of people with CF are dependent upon digestive enzymes to try to get adequate nutrition as CF causes malabsorption. As a rule of thumb, people with CF need 1.5 to 2 times as much of the standard RDA for any given nutrient.
My son and I were initially both prescribed digestive enzymes, but we have both gotten off of them by repairing our gut health so we no longer suffer such severe malabsorption.
People with CF are at high risk of developing a form of diabetes called Cystic Fibrosis Related Diabetes. I have been told this is neither Type 1 nor Type 2 Diabetes.
The root cause of CF is a defective cell channel called the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It is found in the outer membrane of the cell and it handles traffic into and out of the cell for specific molecules. The defect basically creates a bottleneck in the system at the cellular level.
People with Atypical CF have all the same issues as people with CF, but usually to a less severe degree. The fact that I lived for so long without a diagnosis and my condition is a relatively mild form of CF has given me latitude to gradually learn to manage my health with diet and lifestyle.
Standard treatment for CF involves a high level of maintenance drugs and also frequently involves various surgeries. For example, it is not uncommon for people with CF to lose their colon to an E. Coli infection due to both frequent and long-term use of often very harsh antibiotics.
I and my sons are currently drug free. We manage our condition with diet and lifestyle. (Yes, carriers also are known to have issues, such as Irritable Bowel Syndrome.)
Below is a copy-paste with minimal editing of a piece I wrote some years back of my mental model for CF. It is probably the clearest and most succinct explanation I can provide for how and why I see CF differently from other people and how this has been empowering for me and my children and helped us grow healthier.
It was originally titled The Roots of the Problem.
An illustration of my model for CF pathology:
Much of what I say here will not sound like what you typically hear about Cystic Fibrosis (CF) from popular or official sources, like Wikipedia or The CF Foundation. There are two reasons for that:
- I don't pretend to agree with popular notions of what CF is all about.
- Even for details I totally agree upon, their explanations tend to suck.
So it shouldn't surprise anyone that it contains my personal opinions about what my condition means to me and does not pretend to agree with official medical dogma in areas where I don't actually agree with such. If you want to know what official medical dogma says about Cystic Fibrosis, you will need to look that up somewhere else.
Cystic Fibrosis is a homozygous recessive genetic disorder. That means it requires a defective gene from both parents to cause the child to have the disorder.
A person with only one copy of the gene is a carrier. If they have children with either another carrier or a person with CF, they can produce a child with CF, but they don't actually have the condition themselves.
If two carriers have a child together, they have a 25 percent chance of having a child with CF, a 50 percent chance of having a child who is a carrier and a 25 percent chance of having a "normal" child who lacks the defective gene entirely.
If a carrier and a person with CF have a child together, there is a 50 percent chance the child will have CF and a 50 percent chance the child will be a carrier. There is no hope of a "normal" child being born to the couple.
If a person with CF has a child with a partner who has no CF genes at all, the child will be a carrier. If they have multiple children together, all of their children will be carriers. For someone with CF, the genes of their partner determine whether their offspring is a carrier or has CF because a person with CF is incapable of not passing on one of their two defective genes.
I was diagnosed with atypical CF in May 2001, just before I turned 36. The following month, they tested both my sons (who were 11 and 14 at the time). One son was also diagnosed with atypical CF. The other is a carrier.
Cystic Fibrosis actually causes substantial reproductive issues. I have had doctors express surprise that I had two biological children without any medical intervention in terms of fertility.
Years ago, I heard that 97 percent of men with classical CF lack a vas deferens, thus they have no means to deliver the sperm they produce without medical intervention. Women with CF also typically have trouble conceiving.
Understandably, the medical community tends to be somewhat reluctant to help people with CF successfully pass on their defective genes. Reproductive morality is a hot button topic in the CF community.
Some people feel a moral obligation to stop having children after having a child with CF because CF is classified as a dread disease. It is called that because what it does to your body and your life is horrifying in a "most people would not wish it on their worst enemy, much less their own child" kind of way.
Other than mostly dating low risk men during my divorce, I never personally wrestled with the questions of reproductive morality. I was spared that element of the disease because I did not have a diagnosis until well after I had children and already had no plans to have more.
I and my son were diagnosed based on sweat chloride results and medical history. Our sweat chloride results were both 41.
My understanding is that a score of 40 or below is considered "normal" and a score of 80 or more was historically considered to be Cystic Fibrosis. Historically, a score between 40 and 80 was an undefined grey zone.
At some point, they determined that people who scored in that grey zone had a milder form of CF. Articles I read around the time of my diagnosis indicated that people who got diagnosed with Atypical CF were usually incredibly relieved to finally have an answer after a lifetime of being treated like a hypochondriac, basically.
This was certainly true in my case. For me and my son, finally having the correct diagnosis has been incredibly empowering and we have grown a great deal healthier in the years since we were diagnosed.
"Asthma" is a common misdiagnosis for the condition. He and I both were given that label at one time. I always felt it was wrong, but I didn't argue it because it was getting us much-needed medical treatment. Because of the lung issues caused by CF, there is substantial overlap between treatment for asthma and treatment for CF.
But there is more to CF than just lung issues.
Cystic Fibrosis is best known as a deadly lung condition that accounts for about a third of all adult lung transplants in the US and about half of all pediatric lung transplants in the US. However, it significantly affects all mucous membranes and all epithelial tissues, not just the lungs.
Both of these classes of tissue include the lungs, but are not limited to the lungs. CF also very significantly impacts gut function, something the CF community is painfully aware of, but that gets relatively little press compared to the terrible lung issues it is known for.
About 85 percent of people with CF are dependent upon digestive enzymes to try to get adequate nutrition as CF causes malabsorption. As a rule of thumb, people with CF need 1.5 to 2 times as much of the standard RDA for any given nutrient.
My son and I were initially both prescribed digestive enzymes, but we have both gotten off of them by repairing our gut health so we no longer suffer such severe malabsorption.
People with CF are at high risk of developing a form of diabetes called Cystic Fibrosis Related Diabetes. I have been told this is neither Type 1 nor Type 2 Diabetes.
The root cause of CF is a defective cell channel called the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). It is found in the outer membrane of the cell and it handles traffic into and out of the cell for specific molecules. The defect basically creates a bottleneck in the system at the cellular level.
People with Atypical CF have all the same issues as people with CF, but usually to a less severe degree. The fact that I lived for so long without a diagnosis and my condition is a relatively mild form of CF has given me latitude to gradually learn to manage my health with diet and lifestyle.
Standard treatment for CF involves a high level of maintenance drugs and also frequently involves various surgeries. For example, it is not uncommon for people with CF to lose their colon to an E. Coli infection due to both frequent and long-term use of often very harsh antibiotics.
I and my sons are currently drug free. We manage our condition with diet and lifestyle. (Yes, carriers also are known to have issues, such as Irritable Bowel Syndrome.)
Below is a copy-paste with minimal editing of a piece I wrote some years back of my mental model for CF. It is probably the clearest and most succinct explanation I can provide for how and why I see CF differently from other people and how this has been empowering for me and my children and helped us grow healthier.
It was originally titled The Roots of the Problem.
For every thousand hacking at the leaves of evil, there is one striking at the root.
An illustration of my model for CF pathology:
- Infected lungs are not the root of the problem. They are the leaves (end result).
- Thus, you cannot cure the problem by treating the infected lungs. It is a crisis management approach. Yes, you must manage a crisis or it can kill you. But just as you cannot "borrow your way out of debt", you cannot crisis manage your way to good health.
- "Thick mucus" is not the root of the problem. It is at best a branch and at worst a completely erroneous concept.
- Recent research indicates that CF patients do not have "too much" mucus but in fact have too little. All that stuff people are coughing up is phlegm (infection), not mucus. This fits well with my personal experience that when I have more mucus, I have less infection and I cough up less crap. Taking extra sea salt goes a long way towards resolving this aspect of my condition.
- Inflammation is not the root of the problem. It is one of the branches.
- It is good that there is currently research into how to better control inflammation in CF patients. Reducing inflammation is known to reduce infection. But it is not a primary cause. It is tertiary. The primary cause of inflammation seems to largely be the misprocessing of sodium bicarbonate, which leads to excess acidity. It is the excess acidity which causes inflammation. Control the acidity and you control the inflammation.
- The real roots of the problem are at the cellular level.
- The cells of people with CF function differently. Two known differences are that we purge salt at high rates and we purge bicarbonate at high rates. These are the root causes of malfunction of all mucous membranes (sinus, lung, digestive tract, etc.) and pH imbalance which promotes inflammation and undoubtedly other problems.