Kia,
Thank you for providing such a detailed explanation of Cystic Fibrosis (CF). As you mentioned
Cystic Fibrosis is a defect or (mutation) in the gene inherited from parents. It is so unfortunate the
devastating impact this disease has on individuals and their families and caregivers. I am so sorry to hear
about your friend having this disease as you mentioned the prevalence rates and how this horrible
disease can impact any person no matter their race or gender. Although I have heard of Cystic Fibrosis I
had no idea of the impact it has from a biochemical aspect on individuals. After researching my ability to
respond to your discussion prompt I learned that individuals with Cystic Fibrosis have a defective gene
that causes secretions to become sticky and thick so in hindsight instead of acting as lubricants, the
secretions plug up tubes, and ducts, and passageways in the lungs and pancreas.1 This is extremely
unfortunate as we know how greatly important the lungs and pancreas are to one's overall health and
well-being. Another interesting piece of Cystic Fibrosis is its early onset. It is noted that in the U.S.
Because of newborn screening, Cystic Fibrosis can be diagnosed within the first month of life before they
even develop symptoms.1 This is so rewarding to hear as it gives families hope for a successful life as well
as allows the newborn's care team to develop a care plan that allows them to have a better quality of life
they may not otherwise have before an early detection and diagnosis. Interestingly enough early on in
the class, we discussed genomics concerning genetic testing. Something that I found even more
intriguing is that there is the option for genetic testing as a means of prevention for this disease. Many
doctors will recommend genetic testing as the test will test samples of blood from both parents to help
determine the risk of having a child with Cystic Fibrosis.1 I believe with so many genetic diseases
impacting the quality of life of millions of people globally genetic testing not only provides answers but
also allows parents to make an informed decision regarding their future child's health and their health as
well. It was a pleasure engaging, I wish you continued success in your future endeavors.
Reference:
1. Davis SD, Rosenfeld M, Chmiel J. Cystic Fibrosis : a Multi-Organ System Approach. Humana
Press; 2020.
