Cystic Fibrosis Is an Invisible Disease

“I like to live an active lifestyle and not let my illness stop me from being a normal student,” was said by Jessica, diagnosed with Cystic Fibrosis when she was only a baby, and is currently attending Ohio State University as a freshman (Children’s Hospital). More than 300,000 people are living with Cystic Fibrosis in the United States today, and over 1,000 cases are diagnosed with Cystic Fibrosis every year. There is a one in four chance that a child will have Cystic Fibrosis, and a one in two chance that a child can be a carrier for this illness (cff.org). When people with Cystic Fibrosis tell others they have this illness, the people they tell would have never guessed that they were any different from them. Although a person would never be able to identify a patient with Cystic Fibrosis from a person who is healthy. Cystic Fibrosis does have a lot of restrictions and limitations that come with this illness.

Cystic Fibrosis is an invisible illness that continually causes insistent lung infections and gradually restricts the ability to breathe which can affect the pancreas, lungs, and other organs. The biggest concern for a person with Cystic Fibrosis is to have little to no contact with germs at all times, this is why people see most Cystic Fibrosis patients have surgical or medical face masks on. This also means that one person with Cystic Fibrosis is unable to talk face to face with another person with the illness due to the different lung infections that they could get from one another.

Although this is a genetic disease and has no cure thus far, many people with Cystic Fibrosis have found ways to cope with this illness and live their best lives. Cystic Fibrosis is a genetic disorder that is passed down through a family that is inherited by a specific gene.

“Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through through families. An autosomal recessive disorder means two copies of the abnormal gene must be present in order for the disease or trait to develop.” (medlineplus.gov). Cystic Fibrosis transmembrane regulator gene (CFTR) is what you would inherit from both of your parents, which is in charge of creating more CFTR proteins. If you only inherit one CFTR gene from one parent, you usually do not exhibit any characteristics of Cystic Fibrosis, but you will be a carrier of the illness. “In normal cells, the CFTR protein acts as a channel that allows cells to release chloride and other ions.” This gene is defective when people actually inherit this illness, and this makes the cell not be able to release chloride. Chloride or salt in your body helps maintain blood pressure, equals the right amount of fluids, and transports nutrients. This can lead to sticky or thick mucus build up in patients with Cystic Fibrosis which can cause difficulty breathing, bacteria to get clogged in airways, and could eventually lead to inflammation, cysts, and infections in or on your lungs. This could lead to indefinite lung damage in patients that have Cystic Fibrosis.

To actually be diagnosed with Cystic Fibrosis, the patient must go through a multistep procedure in which doctors take multiple tests to see if he or she actually has this illness. These steps include a newborn screening, a sweat test, and a carrier test. A newborn screening is done soon after he or she is born, they prick the newborns heel and take samples on what is called a guthrie card, this is then sent to the state laboratory where it is analyzed for multiple health conditions. Some States only test for certain things, therefore when someone sends in a guthrie card, it is important that the parents specify exactly what they want their child to be tested for. People with Cystic Fibrosis have an abnormal amount of salt or chloride in their sweat, a sweat test can only determine if a patient has Cystic Fibrosis, not for severe the illness may be. A sweat test is done by first cleaning the area where they are going to take the test, this is usually on the mid to upper arm, and then placing pilocarpine which is a drug that stimulates sweating, in the test taking area.

After the specialists place the pilocarpine on the patient’s skin, doctors take another piece of gauze, place it over the pilocarpine, and then place an electrode over the gauze. A mild current is then applied for five minutes, keeping in mind this is not painful at all, it is more warm and tingly. After five minutes, they place a dry piece of gauze where the electrodes were and let it collect sweat for thirty minutes. This test may be taken more than once and can only be done by a trained technician. Carrier testing is just determining parents likelihood of having children with Cystic Fibrosis. If both parents are carriers of Cystic Fibrosis, then the children have a 25% chance of getting Cystic Fibrosis. If one parent is a carrier, and the other parent has Cystic Fibrosis, the children have a 50% chance of getting Cystic Fibrosis.

Cystic Fibrosis is unique to every person that has it, some people may need more treatment than others, it’s not an uncommon thing. Patients all the time find ways to live their daily lives well still keeping themselves healthy, such as Betsy Sullivan said, “My doctor and I decided to come up with a plan that would work for me. We were able to negotiate a deal so that I was doing more treatment than I had been, but I wasn’t sitting at home hooked up to machines.” Things that Cystic Fibrosis patients use daily to keep them healthy are things such as an airway clearance that helps loosen up and get rid of a lot of mucus in the lungs, or antibiotics in the form of liquid or inhaled medicine that are used to fight off lung infections, or even a fitness plan to improve a person’s overall health. Moving on from treatments, the Cystic Fibrosis Foundation, founded in 1955, has an ultimate goal of finding a cure for Cystic Fibrosis, which they are working towards everyday. They also want to give all patients with Cystic Fibrosis long, and happy lives. Organ donors are what can keep an ill patient with Cystic Fibrosis alive. New lungs, liver, or pancreas is just what a patient with Cystic Fibrosis might need to survive.

Before the Cystic Fibrosis Foundation was created, there was little to no research or treatment for Cystic Fibrosis at all. The Foundation right now is just trying to expand our understanding of Cystic Fibrosis because there is still so much we do not know. In Lexington, Massachusetts, The Foundation has therapeutic laboratories that are on the verge of groundbreaking treatments for Cystic Fibrosis. Many people from all around the world come to work at the research centers and to share their own thoughts on the subject. The drug development pipeline can help people with Cystic fibrosis stay updated whenever a new treatment comes out that could really benefit them.

Angela DeStasio was diagnosed with Cystic Fibrosis when she was only three months old, she was transferred to the Cystic Fibrosis Center of Philadelphia later that year. She started tap and ballet when she was five years old, and by time she was ten years old she was dancing at regional competitions. Angela was accepted as a dance major at Marymount Manhattan College, after four years of college she was hospitalized three times due to Cystic Fibrosis and had to go back to school and administer all of her treatment by herself, which takes her about two hours every night. Angela uses a nebulizer, a therapy vest, and takes multiple antibiotics to keep her body healthy. Today, Angela is doing great with the same care team and is healthy and happy, and is ready to transfer over to Adult Care at the University of Pennsylvania.

All in all, Cystic Fibrosis is a genetic disease that is inherited from your parents. The Cystic Fibrosis Foundation has found almost all the treatments that we know of and are working to find more and learn more everyday. There are over 300,000 people in the United States living with Cystic Fibrosis, and they all have their own stories to tell. The invisible illness known as Cystic Fibrosis can affect your organs, such as your pancreas, and lungs. This illness has no cure thus far, but there are people all around the world fighting for it, and will not stop until they find a cure.