Shelby Eversole
10/30/13
Dr. Thompson
COM 4250

My interest with this topic began when I met Landon, a 6 year old boy who suffers from
Menkes disease. Menkes is a disease that primarily affects male infants through a defective gene that causes physical and mental disabilities because of the poor distribution of copper to the body. This disease is caused by a defective gene within the mother’s X chromosome. Most patients suffering from Menkes disease do not make it past their third birthday yet there's very little research on this disease and very few treatment options.
My research will be surrounded around three main themes; how menkes occurs, the effects it has on the family and the patients quality of life. I chose these themes because the patient suffering from Menkes disease is both mentally and physically handicap which means their is a large impact on the family and family structure. Also, because the disease is so rare, I am interested in learning more about the implication of this disease and how the families feel in regards to the child’s quality of life with this disease.
1) How Menkes Disease Occurs
The following sources address the topics of how menkes occurs and the involvement of the mother’s defective X chromosome. They also discuss the copper-replacement treatment option and its ability to decrease some of the symptoms in patients.
Desai, V. V., Donsante, A. A., Swoboda, K. J., Martensen, M. M., Thompson, J. J., & Kaler, S.
G. (2011). Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease. Clinical Genetics , 79 (2), 176-182.
Doctors at the National Institutes of Health and the University of Utah School of
Medicine compiled a report based on their research in regards to the correlation between

Menke’s disease genetic mutations and women carriers. They were able to compile detailed medical research on how the mutation occurs within the female carriers and how the affected X chromosome becomes active within the affected male infant. Their detailed results will allow me to explain the process of how Menke’s disease occurs and why it is commonly known that females are the carriers of the mutated gene.
Fernandes, J., Saudubra, J. M., & den Berghe, V. (Eds.). (2000). Inborn Metabolic Diseases.
Heidelberg, Germany: Springer.
These clinicians edited and updated the definitions, symptoms, and treatment options for a multitude of inborn metabolic diseases. They explain what Menkes disease and how the gene is effected through the mother and then passed on to the male child. A portion of this book explains the ways that the patients go through diagnostic testing which the Clinical Genetics article did not. I will be able to combine these two articles to compile a basis for what Menkes disease is and how it occurs.
Barrera, L., & Galindo, G. (2010). Ethical Aspects on Rare Diseases. Rare Diseases
Epidemiology , 686 493-511.
This book is a look into the challenges that patients and families face in regards to ethical and socio-economic implications. The information in this book will help with my research because it discusses the diagnosis and issues that come about with ethical problems. I will be able to find out more information in regards to the physicians mind-set of the challenges that arise in regards to rare diseases in children. The article “Copper-replacement treatment for symptomatic Menkes disease: ethical considerations,” gives specific examples of the ethical

implications that families of patients with Menkes disease goes through which directly relates to the information that was discussed in this book. This book will be able to tie into the above sources in regards to the treatment options that Menkes patients have and their ethical implications.
2) Family Effects
The following authors address the topic of how families are affected by Menkes disease in regards to the psychological and physical implications.
Anderson, M., Elliott, E. J., & Zurynski, Y. A. (2013). Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support.
Orphanet Journal Of Rare Diseases , 8 (1), 1-9.
Researchers in Australia conducted a survey for families attending the state-wide Genetic
Metabolic Disorders Service at the Children’s Hospital in regards to their overall experience with their children having rare diseases. They used the results and information already available to discuss the physical, psychological and emotional implications that these diagnoses can have on family members and what they feel is needed to improve future experiences. This study was done in Australia which implicates that the information may not be directly related to the feelings of parents in the United States but with it gives a basis for the general emotional and physical tolls that families go through when they learn of their children’s diagnosis of a rare disease.

Turnbull, A. P., Patterson, J. M., Behr, S. K., Murphy, D. L., Marquiz, J. G., & Blue-Banning M.
J. (1993). Cognitive Coping, Families, & Disability . Baltimore, MD: Paul H. Brookes
Publishing Co.
These professionals created a chapter in this book regarding a parent’s insight to having infants that need significant medical attention. They discuss how the family reacts to diagnosis, how they deal with this crisis and the long-term effects of dealing with these crises. The chapter emphasizes the parents need for control and focus on this aspect throughout the entire coping process. This book focuses more on the coping mechanisms that families go through while the researchers in Australia from the above article strictly analyzed and compiled research based on a survey they conducted.
Sheela, S. R., Latha, M. M., Liu, P. P., Lem, K. K., & Kaler, S. G. (2005). Copper-replacement treatment for symptomatic Menkes disease: Ethical considerations. Clinical Genetics ,
68 (3), 278-283.
Doctors from the Indira Gandhi Co-operative Hospital and the National Insitutes of
Health combined their knowledge from a specific case study on an infant male suffering from
Menke’s disease and his family to discuss the ethical implications of the most common copper treatment available for this disease. Their research was focused around the ideas of whether copper treatments should be used on this patient, who should decide this, what the timeline should be, how informed the parents are on their son’s diagnosis and how other family members are affected. They concluded that parents and a medical team together should decide whether the treatment is going to be viable to help decrease some of the difficult symptoms involved with this disease and that they family should be fully aware of the deathly diagnosis that occurs with

this disease. In the BMC Pediatrics case study, they stated that proper treatments can increase lifespan and this study is saying that there are no conclusive results satisfying this idea.
3) Quality of Life
The following authors discuss the quality of life that patients with Menkes disease have and whether the treatment options for Menkes patients will help or hurt them.
Rajmil, L., Perestelo-Perez, L., & Herdman, M. (2010). Quality of Life and Rare Diseases. Rare
Diseases Epidemiology , 686 251-272.
A group of four epidemiologists conducted research about rare diseases in regards to their implications on patient organization roles. They explain the impact of caring for someone with a rare disease and how one of the most important aspects of health care should be improving their quality of life. This will help with my research on Menkes disease and seeing the impact that it has on the family and its structure. Also I will be able to utilize the emphasis on improving a patient’s quality of life to understand how Menkes patients are impacted. This book’s information will be the basis of support for the information that was collected from Anderson,
Elliott, & Zurynski in their survey’s with families in Australia.
León-García, G., Santana, A., Villegas-Sepúlveda, N., Pérez-González, C., Henrríquez-Esquíroz,
J., de León-García, C., & ... Baeza, I. (2012). The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation. BMC Pediatrics , 12:150, 1-5.

A case study done by BMC Pediatrics allowed researchers to test the results of a specific medical treatment in order to increase the lifespan and quality of life for patients with Menke’s
Disease. From this testing of treatment, researchers were able to learn more about the genotype mutation and how there is a longer survival rate for patients who are diagnosed early and start treatment quickly. This information will help me to infer about Menke’s patients quality of life and how it can be improved through proper treatments. This article implies that treatments, especially when started early, can increase a children’s lifespan but the majority of other sources
I have read imply that these results are inconclusive.