HUNTINGTON’S DISEASE: ORPHAN DISEASE
Dr. Kathleen Shannon is the spearhead of the Illinois Chapter of the Huntington's Disease Society of America. This article specifically is an interview with Dr. Shannon concerning a new treatment of one of the most traumatic symptoms of Huntington’s Disease (HD): chorea. Specifically, the drug tentrabenazine, which depletes the amount of dopamine in the nervous system, has been found to significantly help control the involuntary movements that severely impair the patient’s quality of life. Dr. Shannon is an extremely talented neurologist who is located in Chicago, IL. She has published numerous articles concerning movement disorders, with special attention to Parkinson’s and Huntington’s Disease. Because Huntington’s Disease is a hereditary disease it also effects the family’s quality of life. This is why research of this disorder is so important; its symptoms reach far past the patient themselves. There is a whole website dedicated to helping not only HD patients and their families. There are numerous stories of the struggles associated with having the disease and being a caregiver of someone who suffers from this disease. Despite Huntington’s Disease being an “orphan disease” ,which Dr. Shannon defines as a disease effecting less than 200,000 people, it deserves attention. Dr. Shannon also has a clip on youtube explaining how she became interested in neurology and why the study and treatment of movement disorders are important to her, which I hope also speaks to you as a neurology student. As a caregiver of someone who has this disease it is important to me to spread the word about what it is and who can help, and I appreciate anyone taking the time to learn about it.
Living with someone who has HD is an everyday trial. It is a battle to get them to do anything. The little parts of life that we all take for granted are lost to them; brushing one's teeth, eating a meal, even taking a drink of water becomes nearly impossible for the individual. Seeing a loved one go from a functioning, intelligent, and loving to an unpredictable enigma of their former self. My family member is in complete denial about their disease, which also makes it difficult to deal with. As Dr. Shannon mentioned, the patients do not usually notice their deficiencies until they look at them objectively. Once the disease became a reality, denial was the only option for my family member. This means tip-toeing around the issue while still trying to make sure she gets the best quality of life. I know many other stories of families struggling to take care of their loved one only to be met with opposition. Families often become fractured over the care of the diseased; the caregiver often comes to resent the family for having to face the most burden and it becomes a balancing game between reality and the chaos of Huntington's. Because the disease stretches past the patient and into the family and surrounding community, it becomes devastating. There are handfuls of articles that talk about the psychological problems that arise with genetic testing of family members and discovering if they have the gene (which may not even become active). Just seeing your family member turn from respected to helpless is enough to burden your psyche, let alone find out if it will happen to you in the future. Hopefully having an inside view of this disease in conjunction with clinical descriptions inspires in the Loyola neurological community.
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