Response to Case 1: Fabry disease.
Enzyme replacement refers to the medical treatment that is given to patients whose bodies lack particular enzymes. It involves replacement of the deficient enzymes. A patient is administered with intravenous (IV) infusion which contains the deficient enzyme. This procedure has currently been widely adopted in the treatment of various diseases associated with enzyme deficiency such as Fabry diseases, Gaucher diseases, MPS I, MPS IV and Glycogen Storage disease II (Cannon 3). An example of drug that could be administered against Fabry disease is Fabrazyme. The Fabrazyme infusion reduces the level of the substance known as globotriosylceramide (GL-3), which often forms on the lining of blood vessels such as those of the kidney.
The enzyme infusion has often been accompanied by lethal allergy cases. This has been evidenced in about one percent of the patients who receive the infusion. These allergies present themselves in the following forms: face swelling, low blood pressure, throat and mouth swelling, breathing problems, itching, swallowing difficulty and nasal congestion, among others (Lorne 3). Normally, patients who experience these receive treatments that include lung resuscitation, direct oxygen supply to the veins and even antihistamines injections to reduce the extent of allergy effects. Therefore during infusion, there should be availability of appropriate medical support to put at bay the allergic reactions. Other options treatment involves lifestyle approaches which aim at reducing the symptoms of Fabry disease as well as delay complications caused. Fabry disease can also be controlled through Kidney transplantation and insertion of Heart pacemaker.
The infusion of enzyme has been accompanied by death in some cases. This has involved cases such as cardiac arrest, sepsis, pneumonia, kidney failure, heart attack and even stroke. Farther more, the safety of most enzyme infusions is yet to be fully researched, especially concerning patients under the age of 10.
Just like other drugs in the market, the costs incurred during treatment involving this procedure are high. This is because the investments made in developing infusions are costly. This often calls for enzyme replacement therapy basing on recombinant DNA technologies as well as intensive labor and resources. This makes the drug relatively expensive. More so, the expensive nature of the drug is due to its rarity nature. Whereas patients requiring enzyme replacements are few, manufacturing costs of such drugs is solely under support of those who use them. The costs would be low if patients’ population was larger. As such, for patients to receive enzyme replacement therapy, it would cost about 20,000 dollars annually. Yet despite the fact that this therapy is expensive, I will recommend its use. This is because it has been cited as the most effective procedure of dealing with Fabry disease complications.
There are various web tools that can help one know more about enzyme replacement and Fabry disease management. For instance, one could access the information via Google. There are no much cultural implications involving enzyme replacement. But the implications may be felt where patients involved have mental problems and may require to be cancelled and advised more.
Response to case 2: Chronic Myeloid Leukemia (CML)
The differences in chemotherapeutic regimes in the treatments can be attributed to the fact that different patients respond differently to drugs. In this case that special attention is given to Gleevec, the therapy types vary depending on age, sex and pregnancy, among other factors (Ramos 10). Perhaps it could be due to the fact that L.C’s friend is sexually active or pregnant, a situation which calls for application of other procedures rather than Gleevec.
Having been approved by Food and Drug Administration (FDA) ten years back, GLEEVEC serves as a treatment to some cancer diseases. When taken, the drug aims at cancerous cells and destroys protein components that are responsible for the growth and multiplication of cancer cells. It is cited to be very effective against Philadelphia chromosome positive chronic myeloid leukemia (Ph+ CML). Gleevec can be administered in forms of tablets.
Most of the patients who use Gleevec have experienced allergies. This include: eye swelling, legs swelling, heart complications, and liver problems, reduced levels of thyroxin hormones, increased blood pressure, skin blistering, abdominal pain, muscle cramps, excess bleeding, vomiting, diarrhea, rash and nausea, among others. More so, Gleevec could cause death when administered to expectant women. It also has implications to mothers who are breastfeeding and to sexually active women who exercise birth control methods. Supportive care is very important in ensuring that the patients are not victims of the side effects. Therefore, before administering the drug, the nurses should keep this into consideration and inquire to get important details of the patient.
The educational information that could be given to the patient is that CML is characterized by formation large number of white blood cells. This disease rarely affects children. Usually, the bone marrow leads to the formation of immature blood cells. These immature cells are later differentiated into Myeploid or Lymphoid. As the Lymphoid matures to into white blood cells, the Myeploid matures into other blood cells. CML result if more white blood cells are formed. The white blood cells will keep on engulfing other blood cells such as red blood cells hence leading to anemia phenomenon.
This complication is treatable in various ways. However, the use of Gleevec has been cited as the standard way of treating it. It Costs about 32,000 to 98,000 dollars per annum for patient get access to Gleevec of Gleevec for treatment of CML. Information on the use of Gleevec is available at most websites. The patient can get more information through Google. There are no much cultural implications involving enzyme replacement. But the implications may be felt where patients involved have mental problems and may require to be cancelled and advised more.
Connoc, M., A. Buris, A. Sutton & D. Moore. The Clinical effectiveness and
Cost effectiveness of Enzyme replacement for Gauchers Diseases: A
Systematic Review. 2006. Web. 14 October, 2011,
Lorne, Clerk et al. Fabry disease: Recommendations for Diagnosis, Management
And Enzyme replacement in Canada. 2005. Web. 14 October, 2011,
Ramos, Joan. Gleevec Patient Assistance Programme USA: Patient Guide.
2004. Web. 14th October, 2011,