This week I am going to do a little bit of Cystic Fibrosis Awareness support. Every year I try to do a little something as this is a condition that need a bit more attention. We are going to go into some history on Cystic Fibrosis and what is known about it today. The best way to support people with Cystic Fibrosis is to donate to the varies programs that support the people with it, which are often more based around research and development that work towards a cure. Through the many decades that mostly parents who are involved have worked towards this goal we have reached great strides, such as modulator drugs, that have change the course of out this condition operates.
Now, let’s move on to todays main topic.
What is the Cystic Fibrosis (CF) standard definition by the modern day medical establishment?
Cystic Fibrosis (SIS-tik fy-BROH-sis): A common hereditary disease in which exocrine (secretory) glands produce abnormally thick mucus. This mucus can cause problems in digestion, breathing, and body cooling. CF is caused by a change (mutation) in the gene that makes the cystic fibrosis transmembrane regulator (CFTR) protein.
To have CF, a baby must get two copies of the CF gene, one from each parent. CF is a progressive, genetic disease that affects the lungs, pancreas, and other organs. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.
In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, avoiding germs is a top concern for people with CF.
In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth.
In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.
People with CF can have a variety of symptoms, including:
• Very salty-tasting skin
• Persistent coughing, at times with phlegm
• Frequent lung infections including pneumonia or bronchitis
• Wheezing or shortness of breath
• Poor growth or weight gain in spite of a good appetite
• Frequent greasy, bulky stools or difficulty with bowel movements
• Nasal polyps
• Chronic sinus infections
• Clubbing or enlargement of the fingertips and toes
• Rectal prolapse
• Male infertility
Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene.
People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:
• 25 percent (1 in 4) the child will have CF
• 50 percent (1 in 2) the child will be a carrier but will not have CF
• 25 percent (1 in 4) the child will not be a carrier and will not have CF
The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.
Diagnosing cystic fibrosis is a multi-step process, and should include a:
• Newborn screening
• Sweat test
• Genetic or carrier test
• Clinical evaluation at a CF Foundation-accredited care center
Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis.
• There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries).
• Approximately 1,000 new cases of CF are diagnosed each year. • More than 75 percent of people with CF are diagnosed by age 2.
• More than half of the CF population is age 18 or older.
This is what Cystic Fibrosis is physically and scientifically speaking. Keep in mind that this is just what is defined by institutional standards. You will notice that the approved definition refers to CF as a disease. It is not really a disease. It is a progressive genetic condition that attracts disease to the body through environmental circumstance and long term medical treatment. What keeps you alive can also hold your health back physically.
CF varies in the individual in a multitude of ways. It can lead to other medical conditions such as diabetes, autoimmune diseases and cancers. Having to be on modern FDA approved drugs as a continuous treatment can also be the cause of other developing medical conditions as a side effect.
An example of this (that the medical institution will refuse to talk about) is that antibiotics can cause damage to the lymphatic system. The usual treatment for this complaint is a referral to a rheumatologist and/or opioids. This can be proven but you will be hard pressed to find any institutional doctor who will explore the topic.
I am not blaming those in the medical field who have chosen to pick a specialty and give their careers over to something that is almost impossible to handle. It is a field that the people who are treating it know there will never be a real solution. They know they are entering a field where they will watch children die. They know there will never be a cure in their lifetimes. All they can really do is make people more comfortable physically. Even if it means using Hell-World technology.
I would like to believe they do their best under the circumstances of Hell-World. Some can even see the real problem here. Some simply just trust in a system that gives the illusion of healthcare. After all, we are all living in invisible shackles.
The emotional and spiritual side of it are a different issue. In my experience dealing with the struggles of CF has only brought me closer to an understanding of the non-physical aspects of reality. It has showed me something that most people could never even grasp as their bodies and mind are firmly rooted in the physical. This book is something I am putting together to not just explain myself in this understanding but to also further understand my own growth process.
Even though the standard lifespan of an individual is short (averaging around 40 years if kept up my modern day medicine and technology), CF is a long, painful state of being. Luckily, the pain that is experienced is entirely physical.
The need to understand Cystic Fibrosis has never been a straight forward path. It has been well established in the modern day as something that just happens and specialists have been forced to expand their fields into the scientific education of this condition. Since the condition has hundreds of mutations that people can be born with each individual must be treated to their specific needs. The condition can cause a chaotic mess in the biology of the individual and can cause multiple medical issues on top of the underlying CFTR mutations.
In 1984 there were almost no one who studied the condition or even knew about it. The only people who would have known anything about CF were the people with CF and parents and the handful of doctors (if they were lucky enough to find someone who could properly diagnose it) who had had passing medical insight on the condition during their training or experiences practicing medicine. Often CF would be misdiagnosed as other conditions such as TB.
To be fair in this CF and TB do have a lot in common, however I do not think this sort of sloppy medical practice to be acceptable. That is merely my opinion on the topic.
Let’s review some history on the subject.
It was first recognized as a specific disease by Dorothy Andersen in 1938, with descriptions that fit the condition occurring at least as far back as 1595. The name “cystic fibrosis” refers to the characteristic fibrosis and cysts that form within the pancreas.
CF is supposed to have appeared about 3,000 BC because of migration of peoples, gene mutations, and new conditions in nourishment. Although the entire clinical spectrum of CF was not recognized until the 1930s, certain aspects of CF were identified much earlier.
Literature from Germany and Switzerland in the 18th century warned “Wehe dem Kind, das beim Kuß auf die Stirn salzig schmeckt, es ist verhext und muss bald sterben” which translates to “Woe to the child who tastes salty from a kiss on the brow, for he is cursed and soon must die”.
In the 19th century, Carl von Rokitansky described a case of fetal death with meconium peritonitis, a complication of meconium ileus associated with CF. Meconium ileus was first described in 1905 by Karl Landsteiner. In 1936, Guido Fanconi described a connection between celiac disease, cystic fibrosis of the pancreas, and bronchiectasis.
In 1938, Dorothy Hansine Andersen published an article, “Cystic Fibrosis of the Pancreas and Its Relation to Celiac Disease: a Clinical and Pathological Study”, in the American Journal of Diseases of Children. She was the first to describe the characteristic cystic fibrosis of the pancreas and to correlate it with the lung and intestinal disease prominent in CF. She also first hypothesized that CF was a recessive disease and first used pancreatic enzyme replacement to treat affected children. In 1952, Paul di Sant’Agnese discovered abnormalities in sweat electrolytes; a sweat test was developed and improved over the next decade.
The first linkage between CF and another marker (Paroxonase) was found in 1985 by Hans Eiberg, indicating that only one locus exists for CF. In 1988, the first mutation for CF, (Delta)ΔF508 was discovered by Francis Collins, Lap-Chee Tsui, and John R. Riordan on the seventh chromosome. Subsequent research has found over 1,000 different mutations that cause CF.
Because mutations in the CFTR gene are typically small, classical genetic techniques had been unable to accurately pinpoint the mutated gene. Using protein markers, gene-linkage studies were able to map the mutation to chromosome 7. Chromosome walking and chromosome jumping techniques were then used to identify and sequence the gene. In 1989, Lap-Chee Tsui led a team of researchers at the Hospital for Sick Children in Toronto that discovered the gene responsible for CF. CF represents a classic example of how a human genetic disorder was elucidated strictly by the process of forward genetics.
This is just the time in modern-day medical history where CF was being discovered as a distinctively separate condition that stands on its’ own. Since that time treatments and medicine have advanced at a steady rate to bringing greater, longer lives to those who are born with this condition. There are, however, times in history that people have recognized that CF existed though what they called it is another matter.
The first person to be recorded in history with CF (though this is not “official”) was Frédéric Chopin. He was born on March of 1810 and died in October of 1849. He was a Polish composer and virtuoso pianist of the Romantic period, who wrote primarily for solo piano. Chopin experienced poor health for the majority of his life. He had been diagnosed with tuberculosis, a condition that was often a misdiagnoses before the modern age of genetic medical science.
The oldest individual to date with CF is Marlene Pryson who is still currently alive and in her 80s. She was born in July of 1935. She is retired but has spent a lot of her time supporting the cause of finding a cure for CF.
Modern advancement in medicine and genetic science has been able to, eventually, produce what are now called modulator/corrector drugs. There are now several of these on the market. The great controversy about these drugs are that even though they ACTUALLY work they have been in many cases advertised as the ultimate solution to the problem of CF. In some ways they have been advertised giving the impression that they are some kind of cure. They DO work. They have CHANGED the lives of so many. They are NOT a cure. They are just more drugs, however life-changing that they are, that also have pros and cons. It is still a cover-up solution.
The same can be said for lung transplants for people with CF. This is a modern scientific technology that has been developed. It had been advertised the same way when transplants first started taking place. The solution to a problem! The cure! Also, a technology that has bettered and changed lives in many positive ways. Also, NOT a cure.
Allow me to go into detail regarding this.
On the subject of modulator/corrector drugs. Currently, there are four CFTR modulators:
• Kalydeco (ivacaftor)
• Orkambi (lumacaftor/ivacaftor)
• Symdeko (tezacaftor/ivacaftor)
• Trikafta (elexacaftor/tezacaftor/ivacaftor)
Most people are under the impression that this is all you need, however these only work for people with certain CFTR mutations and this drug is given to patients ON TOP of all current treatment the patient is already on. It is not a substitute for other treatments. Where other treatments for CF are all about maintenance the modulator/corrector drugs hit the target of correcting the mutations. Temporarily.
Since CF is progressive in nature the damage that occurs throughout a lifetime does not just go away. It is a never ending battle of constant maintenance and modern pharmaceutical drug abuse just to keep it at bay. Some days make you feel like a house hold appliance being maintained by having to shake out all the debris.
You have to be tested for what CFTR mutations you have to see if it is even possible for one to be on them. There is also a specific approval process to go through to be able to benefit from these drugs. They are not a regular prescription one takes to the pharmacy. They are manufactured by private companies. Not all insurance options will cover them either.
One could argue that having an approval process to put people who need this on the treatment is inhuman and I would not argue that point. There has been outrage over the years that people with CF were denied access to such drugs, even when the people are willing to pay for it out of pocket. Of course, if you know anything about the world of pharmaceutical business than you know that these private companies are going to make drugs like this well out of the financial reach of the common citizen. It has become somewhat of an ethical issue.
For example, I am currently on Trikafta starting from January of 2022. I have been on Kalydeco in the past. Trikafta is very expensive. I had to go through a process of approval from the company that makes it. I suppose I was interviewed and of course I had to have all the correct medical backing from specialized adult CF doctors. I will not deny that this drug has in almost every way “changed the game” for my treatment. It turned around for me what would certainly have been death. The cost for the drug is just somewhere over the $70,000 mark. Per month. Though this figure is subject to change.
Kalydeco was the first of these drugs to be invented and was initially approved in 2012 for treatment of people ages 6 and older with the gating mutation G551D, who make up about 4 percent of the 40,000 people with CF. In the U.S. approval was eventually expanded to babies ages 6 months and older with one of 38 mutations. It was developed by Vertex Pharmaceuticals Inc.
Peter Grootenhuis (March 1960 – August 2019) was a Dutch-American Medicinal Chemist. Grootenhuis was the Project Leader and CoInventor of Ivacaftor (VX-770), the first CFTR potentiator FDA approved drug to treat the underlying cause of Cystic Fibrosis in patients with certain mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene (primarily the G551D mutation.), who account for 4-5% of CF cases.
He also led the Vertex team to subsequent discovery of Orkambi, the combination of Ivacaftor and Lumacaftor(VX-809), approved to treat CF in people with two copies of the F508del mutation (~ 50% of CF patients). Most recently, Grootenhuis’s team discovered Tezacaftor (VX661) and Elexacaftor (VX-445), which in combination with Ivacaftor are the components of Trikafta, a drug approved by the FDA in 2019 to treat CF in more than 90% of CF patients.
For Grootenhuis’ contributions to the discovery of these compounds, he was awarded the 2018 IUPAC Richter Prize, the American Chemical Society’s 2013 Heroes of Chemistry Award, and inducted into the American Chemical Society Division of Medicinal Chemistry Hall of Fame.
On the subject of lung transplant.
Lung transplant has been a method of treating people with lung related conditions since 1963. Lung transplantation is a surgical option for people with end-of-life CF who have advanced lung disease. Diseased lungs are replaced with healthy ones from a deceased organ donor. Organ transplants are followed by a life-long secondary treatment plan using immunosuppressant drugs to try to fight chronic rejection. Chronic rejection is when the body starts rejecting the organ that is installed into the body due to the organ being initially treated as a “foreign” object not natural to the original body. Your body will treat it as a trespasser unless you can force it to comply to your personal biology.
Getting a lung transplant does not mean that the treatment used for the CF before transplant no longer applies. If one has CF and gets a lung transplant, one now has two medical conditions that must be maintained for the rest of the individuals lifespan. Lung transplant has benefited people with CF in many ways. Giving people a “new lease on life” and allows one to live longer than their body originally has the ability to last. That being said, lung transplant has not always been successful and in all cases have created extra disease in the body.
Today the institution of transplant is treated like more of a business rather than an eventual medical requirement. Policies and regulations have been stapled on over the years with and without science being involved. Including the now recent requirement that the individual must be fully vaccinated. Whether vaccines actually help in the process of fighting chronic rejection is still up for debate since up to this point no evidence has surfaced in regards to this. No studies have been done that I can currently find.
On June 11, 1963, James Hardy performed the first human lung transplant. The patient was a 58-year old male prisoner who had lung cancer involving the left main airway and obstructing distal airways resulting in lung collapse and recurrent pneumonia. The immunosuppressive regimen at that time consisted of azathioprine, prednisone, and cobalt radiation to the mediastinum and thymus. After the initial success, the patient developed progressive kidney failure and became increasingly malnourished. He was started on peritoneal dialysis but died only eighteen days after the transplant due to uncontrollable renal failure. An autopsy showed no evidence of rejection in the transplanted lung. Despite the ultimate outcome, this case encouraged the field of lung transplantation by demonstrating that the transplanted lung could function physiologically and rejection could be averted with the available immuno-suppressants, at least for a short time. There is no public record of this patient in any real detail including whether or not he was vaccinated.
No one really knows where CF comes from or what really causes it. There are theories that suggest that CF is caused by ancestral inbreeding. If one is the more adventurous sort one may even consider that it is yet another genetic flaw from “those who poorly engineered these Adom human bodies”. Maybe it is a problem with people who have Rh-Negative blood types. No matter the reason, it probably does not matter in the long scheme of things.
I want to make a final note that while these options are currently available and do have positive benefits in regards to the CF community and its prospects, there will never be a cure for CF unless the real sacrifices start being made. CF is a genetic mutation and the only way to cure a genetic mutation is to correct the mutation permanently. Modular drugs only temporarily correct the mutation and transplant only exchanges an old, broken part for a new part that may or may not add some extra years. Do not be distracted if and when new “solutions” come out that are parading around like a cure to CF.
A cure is something that has one treatment or a series of treatments that inevitably ends in no more treatment for the problem. This is what a real cure is. A cure is not a solution that you constantly have to maintain. If the problem is not gone entirely than you are not cured of the problem. If you have to “monitor” the problem for the rest of a person's lifespan to make sure it doesn’t come back than that is not a cure. If you get “cured” by any doctor but they also say in the same breath “we are going to continue this treatment because…maybe what if a dragon scenario” then you are either cured and the doctor in question is still wanting to bank off your illness or you have a doctor who is operating within their profession fearfully and with doubt. Either situation makes for a poor doctor.
In the Cystic Fibrosis community CF stands for Cure Found … not for Cure Forsaken. This chapter has been all about Cystic Fibrosis but know that this book is not about a girl who has suffered through an illness no one understands. I think we have enough books like that in the CF world. In this book I want to dive deeper than that. I want to explore what happens when a girl who has experienced very physical medical problems and instead of remaining trapped physiologically in medical slavery finds a path to her Highest Self and to personal sovereignty.
Now that we have explored some of the history and shared a little of myself let’s see if we can carve out a future that creates a better way to live. Maybe even one that includes a cure to CF.
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