Our world is filled with a myriad of different diseases, victimizing a multitude of people. Diseases can range from severe to mild and can affect people of all ages. Over the past several decades, there have been an abundant of advances in the medical field, many in which further along our understanding and the process of finding the best cures and treatments for the vast number of different diseases we have encountered over the many years. Although we continue to advance day in, and day out, there are still many diseases in which still stay as an enigma to us; this includes the Creutzfeldt-Jakob disease. The Creutzfeldt-Jakob disease, also known as CJD, affects around 250 unlucky Americans each year (Creutzfeldt-Jakob), typically between the ages of 50-75 (Prusiner). It is a rare disease, only affecting one in one million people (Creutzfeldt-Jakob), but nonetheless, it is important we are educated and continue to learn more about it. Since Creutzfeldt-Jakob disease is so rare, there are numerous symptoms in which the patient first experiences to be considered for this disease. In the early stages, symptoms will include weakness; changes in sleep patterns; weight loss; and a loss in appetite and/or sex drive (Creutzfeldt-Jakob Disease 902-906).
Creutzfeldt-Jakob disease is a very fast developing disease and does not take long for symptoms to worsen. Soon patients of CJD are likely to experience myoclonus (muscle spasms); ataxia (balance and coordination disturbances); stiffness and trouble moving, much like Parkinson’s; and visual disturbances, i.e. double vision, blurry vision, and a partial loss of vision (Creutzfeldt-Jakob Disease 902-906). Another possible symptom includes fatal familial insomnia, which is insomnia that continues to worsen to the point of hallucinations, delirium, and states of confusion (Creutzfeldt-Jakob).
Alongside these symptoms, CJD is most commonly characterized by dementia. Dementia is the loss of brain function that occurs with certain diseases; it affects memory, thinking, language, judgment, and behavior. If someone were to have these symptoms, they would need to seek medical attention to be properly diagnosed. In order to be diagnosed with Creutzfeldt-Jakob disease, a clinical neurological exam and an electroencephalography (EEG) would need to be done (Creutzfeldt-Jakob Disease 902-906). Along with these tests, an MRI or a CT and a lumbar puncture (spinal tap) should be done as well to cancel out all other possibilities (Creutzfeldt-Jakob Disease 902-906).
With the results of these tests, doctors are given a very good idea on whether or not the patient has Creutzfeldt-Jakob disease. It is not until the patient is deceased when the final diagnosis can be declared. After the passing of the patient, an autopsy of the brain must be done in order to have a concrete diagnosis (Creutzfeldt-Jakob Disease 902-906). After being diagnosed with Creutzfeldt-Jakob disease, it is crucial to understand what exactly is taking place inside of the body and how the afflicted human came about the disease in the first place. Creutzfeldt-Jakob disease can happen sporadically, taking up 85% of cases; be hereditary, 10% of cases; or it can also be acquired, taking up a mere 1% of CJD cases (Lerner). There is no definite cause to this disease, but the “prion hypothesis” is most accepted cause as of now. Before the prion hypothesis, scientists believed Creutzfeldt-Jakob disease was a virus, but after further review, they realized CJD does not spread like a virus would. In the prion hypothesis, a prion is the altered form of a normal brain protein.
The difference between the prion and the normal protein is that in the normal protein, there is a helical shape along part of its side, and in the prion form, a sheet structure replaces the helix. When that single prion interacts with other normal, healthy proteins, the normal form’s helical part then converts to a sheet, so that the normal protein transforms into the prion form. This process continues, causing more and more normal proteins to convert into the toxic, prion form. This causes clumps of abnormal proteins, which then causes the degeneration of brain cells (Lerner). The brain of an afflicted individual looks much different than a healthy individual’s. One of Creutzfeldt-Jakob disease’s main characteristics is the brain’s sponge-like appearance. The abnormal formation leads to many fluid filled spaces in the brain, which gives it this look (Creutzfeldt-Jakob). Unfortunately, once afflicted with CJD, there isn’t any way getting out.
Creutzfeldt-Jakob disease is one of many diseases without a cure and unfortunately, also without any medical treatments to slow down the progress of the disease. In sporadic cases there is no way of prevention and if the disease is hereditary, there is no telling who will inherit it (Creutzfeldt-Jakob Disease 902-906). Although such few cases are acquired in modern times, there are ways to prevent it. Special precautions must be set in place in medical areas, especially when it comes to coming in contact with highly infective tissues in people with CJD. This includes the eyes, spinal, and brain tissue (Lerner). Another way to prevent acquired cases of CJD is by the food regulations (Lerner). In the United Kingdom during the 1990s, there was an outbreak of Creutzfeldt-Jakob disease, which affected people in their teens and 20’s in the United Kingdom.
In 1996, British experts announced that these cases may have been caused by eating beef from cattle with Mad Cow disease (Prusiner). Since this discovery and the increased sanitation in medical areas, the amount of acquired cases has decreased to almost none. An afflicted individual on average only has about eight months to live, and only 5% of CJD patients live longer than two years (Creutzfeldt-Jakob). Due to the fast pace of progress in the disease, many do not see benefits to any drug therapy or nursing care available to make life more comfortable. Those who have slower progressing CJD may see more benefit, rather than those with a faster progressing case (Creutzfeldt-Jakob Disease 902-906). Those with Creutzfeldt-Jakob disease do not have much luck and experience a hopeless death. As there continues to be so many scientific discoveries and advancements, there is no doubting we are further along in our knowledge of this disease than we were 50 years ago.
Since scientists now have the prion hypothesis, although only a hypothesis, it is more knowledge on what is going on inside of our bodies, giving patients peace in understanding what is happening to them. As time goes on, I believe the amount of acquired cases will continue to decrease so that they are no longer present. Also, once the prion hypothesis is confirmed it may be easier to find a cure once the disease is more understood. If I were to be diagnosed with Creutzfeldt-Jakob disease, I would undergo as many tests as possible in order to rule out the other possibilities and I would receive the emotional support needed to help me cope with my sudden destruction. Also, I would seek out the best medical care to help me live as comfortably as possible. I would do what I could to make this miserable death slightly less miserable.
“Creutzfeldt-Jakob disease.” World of Health. Gale, 2007. Student Resources in Context. Web. 26 Mar. 2014. “Creutzfeldt-Jakob Disease.” Gale Encyclopedia of Nursing and Allied Health. 3rd ed. Detroit: n.p., 2013. 902-06. Health and Wellness Resource Center. Web. 26 Mar. 2014. . The Gale Encyclopedia of Science. Ed. K. Lee Lerner and Brenda Wilmoth Lerner. 4th ed. Detroit: Gale, 2008. From Student Resources in Context. Prusiner, Stanley B. “Creutzfeldt-Jakob disease.” World Book Advanced. World Book, 2014. Web. 26 Mar. 2014