You notice your mother has been having harder time controlling her movements than usual. She has been more irritable and forgetful than usual, and has had jerky, uncontrolled movements on her arms and face. When you speak to her doctor, he diagnoses her with a specific disorder, one that is known for being highly heritable. He asks whether you would like to be tested to see if you too have the gene for this disorder. Not only do you have to grapple with the fact that your mother has this disease, but now you also need to consider the fact that you might also be carrying the mutation for this disease. Seems like a stressful situation? For family member’s with Huntington Disease, this is the situation that they find themselves in.
Huntington disease is a neurological disorder that causes motor difficulty, specifically involuntary jerking and twitching, as well as emotional and cognitive difficulties. The disease is progressive, meaning that once the initial symptoms set in, they tend to become considerably worse over time. Typically, individuals with adult-onset Huntington disease live for 15 to 20 years after they begin to show symptoms.
What makes Huntington disease very unique is the fact that it is known to be highly heritable, with a well documented genetic mutation that has been known about since 1993. This mutation is an autosomal dominant trait, meaning that if a parent has this disease and passes the gene down to you, you would almost certainly develop the disease at some point during your lifetime.
Though a lot is known about the genetic causes of Huntington’s disease, unfortunately, the reasoning for why this mutation causes can be so devastating not as clear. This means that there is not a current cure for the disease, nor is there a way to slow down the progression of the disease. There are drugs that are available to help with symptom management, specifically mood stabilizers and muscle relaxers, but these can not minimize all of an individual’s suffering. There is a lot of research that is being done about Huntington’s disease. Hopefully, this research that will lead to a solution to cure or slow down the progression of the disease, but as of right now, while there has been promising studies in other organisms, there are no drugs that are currently available for human subjects.
What would you do if you were in this position? Would you want to know if it is likely for you to develop the disorder and try to get treatment to manage your symptoms early? Doing this would allow you to make plans about your future, and plan for what you like to happen when you start developing this disease. Or, would you rather live in a state of ignorant bliss, and handle the disease whenever you begin to notice the symptoms? A positive test result can mean a lot of things emotionally, and also can impact your insurance and employment. Whether you would decide to take the test or not, the decision is not an easy one, and one that an individual should not take lightly. Since this is such a recent field, there is still a lot of confusion as to what the results of a genetic test like this could mean. Any type of genetic testing involves many ethical considerations, especially in regards to who can be allowed to view the results of the test.
Works Cited:
Huntington disease – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/huntington-disease#statistics
Huntington’s Disease. (n.d.). Retrieved from https://www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/huntington-s-disease
Huntington’s disease. (2018, May 16). Retrieved from https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/drc-20356122
Learning About Huntington’s Disease. (n.d.). Retrieved from https://www.genome.gov/10001215/learning-about-huntingtons-disease/
Vonsattel, J. P., MD, & DiFiglia, M., PhD. (1998). Huntington Disease. Journal of Neuropathology and Experimental Neurology, 57(5), 369-384.
