Week 3 assignment instructions Genetics IIThis is a Doctoral ProgramI have attached the first case study - Case One Report: Duchenne Muscular DystrophyI have attached the rubricThis assignment is part

Case One Report: Duchenne Muscular Dystrophy

Kerry S. Murphy

Grand Canyon University

Emerging Areas of Human Health

DNP-810-O505

Dr. Amy Offret

May 23, 2018

Case One Report: Duchenne Muscular Dystrophy

Introduction

Duchenne Muscular Dystrophy (DMD) is a progressive form of muscular dystrophy muscle weakness and deterioration. DMD occurs in males more frequently and less in the females. This case study will discuss the prevalence of the disease, laboratory testings, guidelines and the reasonings behind Food and Drug Administration (FDA) regulations, the involvement of money and grants for scientific research, and the role of family members making decisions for those individuals who have Duchenne Muscular Dystrophy.

Guidelines and reasons behind the FDA regulations

The FDA was a Federal Regulatory Authority created in 1906 mainly focussed on the adulteration and misbranding of food and drugs. Today the FDA is in charge of protecting and promoting public health by regulating and supervising food safety, pharmaceuticals, dietary supplements, over-the-counter (OTC) drugs, blood transfusions, vaccines, and other associated and not directly related to drugs or food. The FDA regulatory framework is based on a pre-marketing testing process and some post-marketing tests. The FDA supervises sterile and non-sterile guidelines for the pharmaceutical industries, and the FDA guidelines are enforced in many countries worldwide. The FDA has changed its rule and regulation with the time. The reason behind the new guidelines is consumer protection and health of the public. The FDA wants to ensure drug safety, according to its proposed uses and the associated risks vs. benefits. The FDA controls the labeling of medicines related to the Duchesne's muscular dystrophy and supervises the manufacturing of the drugs and that the pharmaceutical companies follow the guidelines set by the FDA, including maintaining the purity and efficacy of the drug (Kesselheim & Avorn, 2016).

Scientific Advances: The Role of Grants and Money

In various scientific, innovative activities such as DMD, research money plays a vital role. In Healthcare money plays a crucial role. Constant healthcare improvements need scientific research, and scientific research carries a high price tag. Various open clinical trials and scientific research need a significant amount of money. Grant money plays a key role in DMD research. For example, Brent Dethlefs Executive Director of the Research Institute at Children’s Hospital of Orange County (CHOC) revealed that the hospital was facing problems that inhibited breakthroughs for cell-based therapies due to the unprecedented rates of the research needed and lack of funding. CHOC overcome this deficit through the use of grants from government agencies such as the National Institutes of Health and other funding companies (Myler, 2015). Maintaining a high level of research is helpful and supportive with a genetic disorder such as DMD. The grant funding is beneficial for the expanding and maintaining the quality of scientific research for Duchesne's Muscular Dystrophy.

Family Role and Involvement

The involvement of the family in the patient with DMD in making health care decisions is essential and associated with positive outcomes for the patient. Family members provide a crucial role in most of the cases; numerous evidence-based studies have shown that this interaction proved highly beneficial for the patients with DMD. For some of these patients, the decision of the family is the center of their medical care. Family members can identify the needs of the patient, and there is mutual trust among family members regarding the best interest of the individual with DMD. With the support of the family members, there is psychological, spiritual and physical support involved. Sometimes there is a critical decision about the patient that needs to be decided. The crucial decision regarding the patient can include choices about the medical treatments and if required when to start palliative care. For example, DMD affects and weakens the patient's respiratory muscles, and the life expectancy of patients with DMD is around 25 years of age. The importance of having these critical conversations regarding the decision making role the family plays is paramount. This is also a concern of care provider fatigue. In one interview revealed that family members of the patient feel very distressed, exhausted and depression about taking the health care decision (Nolan et al., 2008).

Describe, Prevalence, and Incidence

DMD is the form of muscular dystrophy, It is the most common type of muscular dystrophy and is a severe type. Generally, it starts at an early age and progressively worsens with time. It affects males and rarely females. Due to the progression of this disease, weakness, and loss of heart and skeletal muscles occur. The early symptoms of DMD are the inability to sit, stand, and walk. At the age of 3-4 years, the weakness of the muscular system starts to become noticeable. It also affects learning skills, and as the individual ages, DMD progression occurs more rapidly and the decline of muscular system increases. The estimated incidence of DMD is 1/3,300 births. The prevalence of DMD among Non-Hispanic and blacks are lower compared to Hispanics and Non-Hispanic whites. The gene, which is responsible for the DMD is located on the X chromosome; males contain only one sex chromosome X. Since males contain only one X chromosome, it has one copy of changed DMD genes, and the female has two X chromosomes, so it includes two copies of DMD gene. Male with one DMD genes have the symptoms, but female with only one copy of changed DMD genes become a carrier and does not contain any symptoms of DMD (Birnkrant, et al., 2018). If a female has both the copy of changed genes for the DMD, then a female will also contain the symptoms of the DMD.

Laboratory testing

The early symptoms appear at the age of 2-3 years; then pediatrician evaluates it. The diagnosis of the Duchenne muscular dystrophy is based on the DNA test or muscle biopsy. Generally, the average age for the diagnosis is five years (Birnkrant, et al., 2018). DMD can be detected with a 95% accuracy during prenatal genetic testing.

Conclusion

DMD is a form of muscular dystrophy, which is a severe type of muscular dystrophy. Diagnosis of DMD is based on the DNA test or muscle biopsy with prenatal genetic testing having a 95% accuracy rate. The FDA guidelines exist for consumer protection and to protect the health of the public.FDA guidelines supervise DMD research and medication safety. Family involvement is critical. With the support of family members, there is the psychological, spiritual and physical support involvement. The grant funding is beneficial for the expanding and improving the quality of scientific research for Duchesne's Muscular Dystrophy. With more funding, the hope is to enhance the quality of life for those individuals affected with DMD and to one-day eradicate this debilitating and lethal genetic disorder.

References

Birnkrant, D. J., Bushby, K., Bann, C. M., Apkon, S. D., Cripe, L., Poysky, J., . . . Poysky, J. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. THE LANCET, 445-455.

Kesselheim, A. S., & Avorn, J. (2016). Approving a Problematic Muscular Dystrophy DrugImplications for FDA Policy. JAMA Network, 2357-2358.

Nolan, M. T., Kub, J., Hughes, M. T., Terry, P. B., Astrow, A. B., Carbo, C. A., … Sulmasy, D. P. (2008). Family health care decision making and self-efficacy with patients with ALS at the end of life. Palliative & Supportive Care, 6(03). doi:10.1017/s1478951508000412

Myler, L. (2015, September). Healthcare Innovation: Show Me The Grant Money. Retrieved from A Forbes website: https://www.forbes.com

Practice Hours Completion Statement DNP-810

I, Kerry Murphy, verify that I have completed (10) clock hours in association with the goals and objectives for this assignment. I have also tracked said practice hours in the Typhon Student Tracking System for verification purposes and will be sure that all approvals are in place from my faculty and practice mentor.