March heart that I report that our beautiful

March 1, 2016

“It is with the heaviest
heart that I report that our beautiful Amanda gained her angel wings this
morning surrounded by her family and friends. Her incredible soul is splashing
around the waters of heaven, holding hands with her grandmother, uncle, and CF friends
who met their fate too soon as well. Thank you all for your love and support.”

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            This was the post uploaded on the early afternoon of
March 1st, 2016 on the “Prayers for Amanda Sue” Facebook page.

Amanda Dooley was 22 years old when she passed away from complications for
Cystic Fibrosis, just 11 days before her 23rd birthday. Amanda was
the best friend of a friend of mine in high school, from back when my friend
still lived in Oregon. Her being from Oregon, I never actually met Amanda, but
learned a lot about her through my friend and through following her journey on
her Facebook page. Her story touched a lot of people and was a very inspirational
one as she fought so bravely and mightily through 2 double lung transplants
within a span of a year and a half. I too was touched by her incredible story
and her bravery, along with those who endure this fight alongside her. This
became my inspiration to do my research on this horrible disease that stole
this beautiful young woman’s life far too early, in an effort to learn more
about the disease and to help spread awareness in hope that someday, this
disease will sufficient treatment.

            Cystic Fibrosis is a recessive autosomal genetic disorder
caused by a mutation in both copies of the Cystic Fibrosis Transmembrane Conductance
Regulator (CFTR) (McIntosh and Elaine K. Luo, 2017)

This protein is very
important in the secretory glands that are involved in the production and
secretion of sweat, digestive fluids and mucus’s. When the gene is affected
with the mutation and the protein is not functioning normally the secretions
are thick and sticky rather than thin and fluid as they should be. These viscous
secretions can cause issues all throughout the body in a CF patient, including the
gastrointestinal system, pancreas, lungs, and can also lead to infertility.

            Within the GI tract, the Pancreas is responsible for creating
the digestive juices intended to help break down foods to allow the body to
absorb its nutrients. The issue that persists with these thick secretions is
that the fluids can cause blockages with in the digestive tracts and inhibit
the absorption of macro and micro nutrients, this is known as malabsorption. These blockages also can
lead to severe and irreversible damages to the pancreas and other digestive
organs. These damages lead to adverse effects such as malnutrition and possible,
pancreatic or liver failure. Another complication with the damages to the
pancreas are a special type of diabetes that is specific to cystic fibrosis patient’s
due to the inability to create insulin if the islets of Langerhans within the
pancreas are damaged.

            According to the Cystic Fibrosis Foundation,
approximately 97% of males with cystic fibrosis are infertile due to blockage
or absence of the sperm canal. This is known as congenital absence of the vas
deferens. About 20% of female CF patients have fertility complications due to thickened
cervical mucus and/or from malnutrition.

            While the CF mutation affects all parts of the body, the
most notable and often the main cause of severe complications and death are
within the lungs of the patient. As with the secretions in the other parts of
the body described before, the secretions within the lung are thick and accumulate
causing a lot of issues within the respiratory tract.

            Within normal airway passages a thin mucus lining, known
as epithelial lining fluid (ELF), is present along the epithelium. This thin
mucus helps to keep the airways lubricated, as well as trapping pathogens and
other particulates from entering further into the body. On the epithelial tissue
within this mucus layer are small cilia (hair shaped structures) that help to
move this mucus along in a fluid motion directing the fluid and the particles
that it has trapped into position to be coughed up or spit out. (Wikipedia,
2017)

            In patients with cystic fibrosis however, this fluid is
very thick and heavy. The heavy mucus inhibits the cilia from being able to
move freely and transport the mucus along. This causes the mucus to build up more
and more in the lungs and airways, leading to difficulties in pulmonary
function and an inability to get rid of the excess mucus. The stagnant moist
environment becomes an ecosystem in which the bacteria caught within the mucus
can multiply and flourish out of control. (Wikipedia, 2017) This leads to all
kinds of bacterial infections and pneumonias to constantly develop within the
lungs of the patient. The thick, heavy buildup within the airways along with
the perpetual infections leads to premature respiratory failure in most CF
patients. Such was the case with Amanda who at the age of 21 required a double
lung transplant in order to continue breathing on her own.

            Along with the complications found within the lungs,
these thick mucus secretions are also found within, and negatively affect the paranasal
sinuses. The build-up can cause breathing difficulties, infections and nasal
polyps.

            The signs and symptoms of cystic fibrosis can vary
greatly, and even be non-existent in some patients until adolescence or even
early adulthood.  There are some telltale
signs and symptoms to look for in those patients who are displaying the typical
signs. These are:

·     
Unusually salty skin

·     
Persistent cough with
thick sputum

·     
Difficulty breathing

·     
Poor exercise stamina

·     
Multiple lung infections

·     
Inflamed nasal passages

·     
Poor growth/ low body mass

·     
Constipation

·     
Foul smelling/ greasy
defecations

 

            Today in all 50 states of the US a screening is performed
on all newborn infants to test for CF.  (Mayoclinic,
2017) This has led to early detection, sometimes even before symptoms are
displayed. Potential parents can also get their gene sequence tested to see if
they are carriers of the gene mutation, allowing them to make informed
decisions on whether their child will be at risk for inheriting the CF
mutation.

As of now there is no known cure for cystic fibrosis. However
there has been major strides in the quality of treatments to help create a more
comfortable life for a patient with CF. The most commonly thought of treatment
for CF patients is chest therapy. This therapy consists of clapping onto the
front and back of the upper chest area in order to help loosen up the thick
mucus in the airways, allowing for a productive cough to clear themselves of
the mucus’ and the infection causing bacteria with it. Now there are also
specially made vests that the patients can wear that mechanically massage and
loosen these blockages as well. Many times, while undergoing these physical
therapy treatments an inhaled breathing treatment will also be administered to
help further loosen the and clean the inner airways. Other procedures CF
patients commonly undergo are the removal of nasal polyps that can obstruct
nasal passage breathing, oxygen therapies to boost O2 saturations,
antibiotic injections to help fight off the bacterial infections common with
CF, and suctioning of excess mucus through the upper airways.

 Aside from these day
to day treatment there are also some other more advanced treatments that can
help prolong life when the patient’s body starts to deteriorate. Temporary
feeding tubes may be able to help combat malnutrition and low body mass due to
complications in the digestive system. Surgery is also an option to help the
patient live longer and healthier. GI surgeries, such as removal of blockages
in the bowels are common, as are lung transplant surgeries for CF patients. In
most cases CF does not reappear in transplanted lungs, but the other
complications of CF can all still be prevalent and cause problems continually. (Mayoclinic,
2017)

The most promising treatment for CF patients however that is
very recent and still a long way from being completely understood and perfected
is gene mutation therapy. In 2001 a study was done by a group of doctors and
researchers in London, in which a normal copy of the mutated strand of genes in
able to be inhaled by the patient. The normal copy enters the body and begins
to make copies replacing the affected cells. According to Eric Alton, the coordinator
of the UK Cystic Fibrosis Gene Therapy Consortium, the effects were modest and
variable, but also promising as they did see some improvement in many
individuals that were in the clinical trial. (Boseley, 2017)

In the last 2 decades
there has been a significant increase in knowledge pertaining to gene mutation
therapy; this has led to the life expectancy of CF patients to raise from 14
years in 1980 to 37 years in 2012. (Firth et al., 2017)

            I found the potential of gene therapy and alteration to
be very exciting for the future of care for Cystic Fibrosis. I really hope that
someday with continued strides in gene therapy and stem cell research that a
more permanent treatment can be found to help to not only further raise the
life expectancy, but to also improve the quality of life for the patients in
the years that they do have. Through following Amanda’s journey in her last
years of her battle and by conducting the research for this paper, I have
learned a lot about the disease and would really like to see this disease be a
thing of the past at some time in my lifetime. I hope to try and get involved
to help see that happen with awareness spreading and attending a CF fundraiser
event. I also have been inspired to have my DNA sequence read to see if I may
be a carrier of the gene as well.