An Overview Of Cystic Fibrosis
“Life is not measured by the number of breaths we take, but by the moments that take our breath away” (Angela). Cystic Fibrosis can be a life-threatening disease, but that does not limit the life of one affected by it. Cystic Fibrosis is a genetic disease that may cause mucus blockage in the lungs, pancreas, liver, gallbladder, intestines, sinuses and reproductive organs. At the moment, there are over 1,700 mutations discovered. As time goes on more and more research will be conducted to find a cure. To better understand Cystic Fibrosis, there are significant vital factors to learn about this chronic illness.
Knowing the history is essential to understand Cystic Fibrosis further. In the 1600s, some references described children who were possibly affected by CF. As time went on, medical professionals slowly discovered that CF was a distinct disease. The first time CF was acknowledged as a disease was in the 1930s. Most babies diagnosed would have died within the first six months of their life. CF has been long known as a recessive disease, but only the ones who have inherited a defective gene from each parent will unmistakably have the disease. Few doctors around this time had decided to discover more of this disease such as Dr. Guido Fanconi described “Cystic Fibrosis of the pancreas” and Dr. Dorothy Anderson had made the first report of CF being as a separate disease. During the 1950s, a heat weave struck New York City, and many of the patients affected by it had Cystic Fibrosis. Paul di Sant'Agnese, M. D and more doctors connect additional salt loss to the hidden cellular problem.
To further investigate the disease, Dorothy Andersen, M. D. , Paul di Sant'Agnese, M. D. , and Harry Shwachman, M. D founded the Cystic Fibrosis Foundation and eventually incorporated it as the National Cystic Fibrosis Research Foundation. The 1990s was a time when more medications and research programs were being created, thus extending the lifespan for people with this disease till adulthood. The 2000s had many new medications, clinical trials, different types of therapies, and many opportunities for each mutation to be destroyed. History plays an important role in being able to comprehend what Cystic Fibrosis is. Discovering how an individual can be diagnosed is essential to understand Cystic Fibrosis. Chorionic villus sampling has provided with an abundance of information to show Cystic Fibrosis in unborn children. With this type of treatment, there are risks such as infection, Rh sensitization, and miscarriage but these are a few of the risks that people are willing to take to diagnose their child early. After birth, there are several ways to diagnose a person for Cystic Fibrosis.
The most common way to be tested for CF is the sweat test. The sweat test is a simple test that sees how much chloride is in the sweat. A newborn will be tested between the first ten days and four weeks. If the sweat test meets at least an amount of 60 mmol/L that indicates that the person will most likely be diagnosed with Cystic Fibrosis. Another way a person may be tested for CF is a blood test checking the immunoreactive trypsinogen (IRT). IRT is a chemical released from the pancreas which in high levels of this chemical this could be a possible sign of CF. Lastly, if the sweat test comes back with uncertain or borderline for CF that could be a sign of CFTR-Related Metabolic Syndrome (CRMS). CRMS is a diagnosis that is not an indication of CF, but a person can have certain symptoms of Cystic Fibrosis such as severe stomach pain, coughing or wheezing for more than two weeks, loose stool, bad gas, constipation for more than two weeks. Knowing of individual symptoms of undiagnosed Cystic Fibrosis is vital to successfully diagnosis a person with Cystic Fibrosis. Being able to understand how Cystic Fibrosis affects the body is critical to know.
According to the article “Understanding Cystic Fibrosis” in Verywell, “Cystic Fibrosis interferes with the body's ability to carry salt and water to and from cells. This causes a buildup of thick mucus that clogs up the lungs and digestive organs”. Cystic Fibrosis is most known to affect the lungs rather than how much it can affect other parts of the body as well. As discussed earlier CF can cause mucus blockage in the lungs, pancreas, liver, gallbladder, intestines, sinuses and reproductive organs but that all depends on what type of mutations a person has. Just because there may be others with the same disease as one does not mean they will be affected the same way as each body is differently affected. Knowing how CF can affect the body can help those with the disease be aware of their own symptoms.
Learning ways to stay healthy with Cystic Fibrosis is important to know especially for ones affect by it. Benefits of exercise are the prevention of diabetes, heart disease, bone disease, cancer, more energy and clearing airways which helps have better overall health. Even adding simple exercises such as dancing and walking can make a huge difference in their health. Stay clear of germs is a key element to staying healthy mainly in Cystic Fibrosis. There are several methods such as washing hands regularly, wearing a mask, keeping a safe distance from others when they are sick and get vaccinated. Other care tactics are air clearance techniques such as coughing, huffing, chest physical therapy, medications, nebulizer and high-frequency chest wall oscillation. The use of a nebulizer is for inhaling medications that thin the mucus. Medications like hypertonic saline, mucolytics and dornase alfa. Also, the Vest is a machine which has two hoses that connect to a inflatable vest and an air-pulse generator which creates vibrations inside the lungs that breaks up mucus. There are so many ways a person can stay healthy but only if these methods are done. Finding ways to keep with those with CF can differ per person but is important to do them consistently.
As time goes on more research about medications and treatments that are important to CF patients are introduced. Ivacaftor (Kalydeco) and Lumacaftor + ivacaftor (Orkambi) both passed all three phases of the drug trial. These two medications are one of the biggest breakthroughs yet for Cystic Fibrosis. Only one complication with these medications is that they can only work patients with certain mutations. These medications restore normal functionality back to the genes only while the medication is being used. Researchers are continually testing new medications that will work for other mutations. A new treatment called the Monarch replaces the original vest by combining each component of the vest system. The inflatable vest and the air-pulse generator are put into a single compound and it is battery powered which allows the individual to move freely. It is important to stay up to date with the newest research as they are introduced so that a CF patient can know how to take care of their body the best way they can.
In summary, all the factors that were previously discussed should lead to a better understanding of Cystic Fibrosis. There is hope for a cure in the near future especially with all the latest developments in medicine. Until the day arrives it is important for CF patients to do all the needed treatments in order to keep their bodies as healthy as possible. The best to know more about CF is the Cystic Fibrosis Foundation website. Even though being the most common genetic disease in the world, most may not even know anyone who has it.
