The Patient's Guide to ...
What is Cystic Fibrosis?
Cystic Fibrosis (CF) is a genetic disease in which mucus thickens in the body and obstructs the lungs and airways that enable a person to breathe. This disease also affects other organs such as the liver, pancreas, and sinuses.
How does someone get this disease? How can it be diagnosed?
Since this is a genetic disease, the defective gene that carries CF must be present in one of the parents for the child to inherit it. CF can be diagnosed at all ages since there is no determined time period where it decides to display obvious signs in the body, that can also be shown through symptoms. These symptoms can range from a persistent cough, frequent lung infections, poor weight gain and growth, wheezing making it difficult to breathe, and strained bowel movements. There are two tests that determine whether someone has CF and that is through the genetic and sweat test. Genetic testing is given before a child is born by taking cells from both parents with a gentle swabbing of their cheeks, and the sweat test measures the concentration of salt in a person’s sweat which is more reliable to find a definitive result.
Life can drastically change after diagnosis, creating limitations on freedom on the person. Many with cystic fibrosis live long and full lives whereas others can be shortened to an expectancy of 37 years depending on its severity. Due to the lung complications, there must be no smoking or be near any sort of “toxic” fumes, no high rollercoasters, avoid being around someone who is sick, and do not share food with others.
What are treatments for it?
Medications are given to help treat lung infections along with thinning the mucus since it is most common and to help absorb food better. Lung transplants can be an option for some who have more severe problems with breathing, but it sometimes results in death due to strokes from blood clots. This transplant helps those to live at least 10 or even 20 more years than expected. This does not cure cystic fibrosis seeing as the person already has the gene which cannot be erased from DNA.
Treatments that those with CF receive must continuously work on their breathing, while using either a nebulizer or a therapy vest which shakes the chest back and forth to clear out the blocked-up mucus. Enzyme supplements also allow someone with CF to gain the necessary nutrients to absorb vitamins, digest food in their lower intestine, and maintain/gain a healthy amount of weight.
Frequent hospital visits are also part of the normal routine that comes with an important rule – all patients that have cystic fibrosis must maintain a distance of 6 feet apart from each other at all times. This rule must be followed to avoid cross examination between other patient’s bacteria which can kill both who have cystic fibrosis. Spacing 6 feet apart also avoids any germs that can become airborne when someone sick sneezes or even coughs.
Although there is no cure for CF at the moment, there are therapies for its symptoms. A new form of medication therapy for this disease is called Trikafta, which currently is only approved for certain people over the age 6 years who carry specific mutation of the F508del gene which are responsive based on lab data. Those who have been prescribed to it said there is a 14% increase in their lung function after taking it for multiple months.
What is Skin Cancer?
Skin cancer is the unusual or untypical formation of skin cells under the layers of the epidermis (upper layer) and the dermis (lower layer of skin). Areas of skin that are exposed to the sun and its ultraviolet (UV) rays have a greater chance of developing cancer such as arms, legs, scalp, and neck or anywhere is exposed, it can even form under fingernails or toenails. There are three types of cells where this type of cancer forms starting on the epidermis in squamous cells, then basal cells, and melanocytes that create melanin which gives pigment to the skin are detected in the dermis. Each cell that begins to develop cancer each take on a different look and or formation on the body.
Common types of skin cancer
Squamous and basal cell skin cancers manifest on the top layer of the skin, greatly exposed to the sun. American Cancer Society explains that squamous cell carcinomas are diagnosed about 2 out of 10 skin cancers. This form of skin cancer is usually seen as a small, scaly red bumps that appears crusted. Basal cell carcinomas are brown and pearly bumps, that never fully heals correctly and repeatedly comes back.
According to Mayo Clinic, Melanoma is highly dangerous and the most common type of cancer within the United States. This type of cancer evolves in the cells (melanocytes) that create melanin which gives pigment to the skin. It is rare that this forms inside the body but rather on the top layer of the epidermis. First symptoms to look for is the change to an existing mole and the new pigmentation of an unusual color growth on the skin. They also tend to grow in unseen areas such as nail beds, soles of feet, and the palms of hands. There is a system to follow called ABCDE to detect melanomas such as;
A= Asymmetrical shape in moles
B= Irregular borders of moles (notches, scalloped)
C= Change in color on body growths or uneven distribution of color
D= Diameter in size of a growth or mole
E= Evolving over time (itching or bleeding)
If a mole or nodule (squamous and basal) is suspected of skin cancer, doctors with numb the area, cut, biopsy and stage the skin spot. Depending on the stage of cancer which can be stage I, II, III different therapies are advised by an oncologist along with MRI, CAT scan, X-ray and bloodwork.
Emily Conenna is a senior at Kutztown University of Pennsylvania with a major in Public Relations and a minor in Professional Writing. She has devoted much volunteer time to raising awareness about Cystic Fibrosis and other major diseases through her writing and social media work. Emily is the editor of the Patient Guide series.
May 2022 page 7