My friend and I were taking over lunch at school one day. As we were munching down some of the bad school cafeteria food and pushed it down with a glass of soda, we were finally able to satisfy our hunger. Then, I noticed that my friend was silent the whole time. I asked him what was bothering him. He hesitated to answer my question, so I sensed that the matter could be too personal and coercing him to speak up would be violating his privacy. After several minutes of silence, he broke the news of having diagnosed with a genetic disorder, more specifically Phenyketonuria or PKU.
My friend was so shocked that he did not even understand what the doctor told him during his check-ups. Genetic disorders are diseases and impairments caused by an abnormality on the genetic make-up of an individual. Such abnormalities may be due to a modified single gene or an alteration on the chromosomes of a person The University of Utah, Genetic Science Learning Center, 2008). I suddenly remembered what we have discussed in our biology class. We tackled the different types of genetic disorders. My friend broke into silent sobs for not knowing what to do.
He said that he was frightened by the name of the disease as it sounded serious. Still, he said that he felt normal and healthy, so he asked me the impacts of the disorder to his life. I comforted him by explaining to him what I have learned in my biology class. I told him that his disease is caused by a lack of enzyme phenylalanine hydroxylase, an enzyme that processes the amino acid phenylalanine. The lack of that particular enzyme will result in an abundance of amino acids in the body system that causes phenylketonuria (Balch, 2006). The body cannot break down phenylalanine, causing it to accumulate in proportions in the body.
Phenylalanine hydroxylase converts phenylalanine to another type of amino acid called tyrosine. Since there are insufficient amounts of the particular enzyme, the phenylalanine accumulates in the blood stream and can cause damage on the brain of a person (Youngson, 2005). I told him that the disorder is normally a congenital or inherited disorder. His parents could have the lineage or history of phenylketonuria that can be passed on to generations (Youngson, 2005). I told him that diagnosing the disorder at an early stage is a positive sign.
It means that the disease can be treated to prevent further complications and progressions of the disorder. If the disease was left untreated, it can further develop to severe mental retardation, seizures, unusual posture, aggressive behavior and other psychological disturbances (Balch, 2006). I suggested to him to undergo treatment to cure the disorder before it progresses and renders its effects. When I was on my way home, I walked along with another friend of mine whom I told the scenario a while ago at the cafeteria. She also recounted a newborn relative who was diagnosed with another type of genetic disorder called Tay Sachs Disease.
She did not know what the disease is all about and asked me if I knew. Tay Sachs disease is attributed to two medical practitioners, Warren Tay and Bernard Sachs, who significantly contributed their knowledge about this particular genetic disorder. Tay Sachs disease is an inherited genetic disorder marked by a particular defect. It makes the body unable to break down or dispose the waste products of the cells. Tay Sachs disease is transmitted to an offspring if both parents are carrier of the single recessive gene. If one parent is affected of Tay Sachs there is no chance of producing an offspring with Tay Sachs.
The disorder is mostly common on Eastern European Jewish origin (Gromley, 1989). Patients diagnosed with Tay Sachs disease appear normal at birth, but after a certain period of time, an obvious muscle weakness can be seen. Patients normally go blind because of the cherry spot in the retina of the patient (Youngson, 2005). She nodded in agreement on what I have said. She said that her aunt told her that the baby will never witness the beauty of the outside world. We parted ways when she reached the street where she lived. As soon as I got home, the phone rang. Tired of the day’s events, I refused to answer it acting like nobody was at home.
However, the caller was persistent, so I I had to no but to answer it. I was surprised to learn that on the other end was my old friend from high school. We chatted for a while to catch up for lost times. Then, he shared that his father was diagnosed with Huntington’s disease. He sounded weird but sad. Just like my friend whom I had lunch a while ago, he seemed lost and confused. I comforted him and again recounted what learned from my biology class. I told my high school friend that Huntington’s disease is a rare genetic disorder just like Parkinson’s disease wherein a person loses control on his neural activity.
The onset of the disease is during 35th to 55th year of a person’s life. The disease is produced by a particular gene. Nevertheless, there are no great advances on how the product of this gene caused the disease (Freed, 2000). The disease involves abrupt, involuntary movements of the muscle, as well as rigidity, dystonia, and difficulty in speaking and swallowing. Patients may also develop changes in personality and may show psychological symptoms like depression (Freed, 2000). After talking for quite a while, he hung up because he still had a class to attend. Thinking of the day’s events, I could not help smiling.
I was really amazed at myself for learning so much in my biology class, although I just stared out of the window most of the time.
References
Balch, P. A. (2006). Prescription for Nutritional Healing. New York: Avery. Freed, W. J. (2000). Neural Transplantation: An Introduction. Cambridge, MA: Massachussetts Institute of Technology. The University of Utah, Genetic Science Learning Center. (2008). What are genetic disorders?. Genetic Disorders Library. Retrieved July 11, 2008 from http://learn. genetics. utah. edu/units/disorders/whataregd/. Youngson, R. M. (2005). Encyclopedia of Family Health. Tarrytown, NY: Marshall Cavendish.