When a Case Study is Not Hypothetical
(Note: Each week we post a case study that illuminates an ethical quandary related to genetics. The majority of these are hypothetical, and it is interesting to dissect the merits of the cases using academic principles and reasoning. However, we must remember that these cases are not hypothetical for everyone. Real people struggle with the difficult issues we highlight. At Genetics Generation, we think it is important that our readers occasionally have the opportunity to "meet" exceptional individuals directly impacted by ethical issues in genetics. We suggest you review the most recent case study, if you haven't already, before reading the following interview.)
Interview by Andrea Tunnard
The best way to understand the tremendous impact a debilitating genetic disease can have on a family is to speak with those affected firsthand. To this end, I interviewed Mrs. Jean Basua, whose family has been devastated by familial Amyotrophic Lateral Sclerosis (ALS), commonly known as "Lou Gehrig's Disease". People with this debilitating neurological disease have a life expectancy of 2-5 years from the time symptoms begin. ALS causes the gradual loss of motor neuron function. Many people have difficulty swallowing, speaking, and eventually breathing. The age of onset of symptoms ranges from 20 to 60, but it can affect people outside that range. About 5,600 people are diagnosed with ALS every year, making it a rare disease. Between five and ten percent of all ALS cases are considered "familial ALS" and are caused by an autosomal dominant mutation. Jean is a member of an ALS family, and she graciously shared her story with me in the hopes that her experience will help other families cope with the difficulties of illness and loss.
Florence was diagnosed at age 61, when Jean was 28. The family first noticed that Florence experienced leg cramps while she was walking, and she began falling down. Jean said of her mother's diagnosis with ALS: "it was like an enormous tidal wave that came crashing down..... I felt sad for my mother to become a prisoner in her own body. My parents loved us children and each other unconditionally..... Everything seemed so normal until this devastating news landed like a rock." She said that before the diagnosis, the Taylors were a "normal, happy family of six". When Florence got sick, everyone in the family made sacrifices to care for her, but the thought of "who is next?" was always present. At the age of 28, Jean was a young mother with two children and a husband. She helped her three siblings and father, who took an early retirement, care for her mother for two and a half years until she passed away at age 63.
In the years following Florence's death, all three of Jean's siblings died from ALS. Her brother, Frank Lloyd, died at age 37. Frank was an athlete, and he first noticed weakness while he was running. Her brother John Craig was diagnosed next and died at age 40, one year after Frank. His first symptom was muscle twitching. Jean's fraternal twin sister, Jane, died at age 53 and first noticed symptoms when she started tripping and falling. Despite the enormous suffering, Jean expressed that she was grateful that everyone in her family retained their ability to communicate verbally throughout the progression of the illness, making it possible to have lucid conversations with those she loved. She said she counts that as a blessing.
Families affected by familial ALS are of great value to researchers. It is possible to investigate the genetic cause(s) of the disease, and it is likely that similar genes become defective in people with sporadic (non-inherited) ALS since the symptoms overlap. Also, understanding the affected genes makes it more likely that a treatment can be found. Jean's family had been part of a study conducted by Dr. Teepu Siddique, who was affiliated with Duke University at the time. Through Dr. Siddique, Frank received an experimental treatment, but it was not effective in managing his symptoms. Both Frank and John were treated by Dr. Siddique in hopes of finding the gene responsible for ALS in the Taylor family. To date over 15 different ALS- associated gene mutations have been identified. Unfortunately, the gene mutation causing ALS in Jean's family has not been identified. Still, Jean said that at this point in her life, she would consider having the test if one becomes available. Jean has a 50% chance of carrying the mutation. When she was younger, she did not want to know if her life was going to be cut devastatingly short. But now, Jean feels that "maybe [she] would make some different choices" if she knew ALS was in her future. If she were to test positive, she would not disclose the results of the test to her children, because of the implications it carries for their futures. She plans on donating her organs to ALS research and hopes that her genetic information could be useful in the search for a cure. Jean would also like for ALS to be better understood by the public as a neurological disease that falls under a large umbrella of diverse and devastating neurological conditions. At 59, Jean has outlived all of her siblings and is approaching the age at which her mother was diagnosed. Thankfully, she is healthy and shows no symptoms of the disease.
The amount of loss and suffering associated with familial ALS is unimaginable for most of us who take our health for granted and rarely think about what is hidden in our genes. For some families, like Jean's, lives are shaken by inherited conditions. It's easy to imagine that someone who has experienced so much pain and lost so many loved ones would be exhausted or angry, but Jean seemed exactly the opposite to me. Throughout our conversation, she found numerous aspects of her family's experience with ALS that she counts as blessings; from the simple act of conversation to the relationships she did have with her siblings. Jean agreed that her experience was a significant hardship, but quickly told me that she is "still hopeful" and has "so much to live for". She said that her heart goes out to "all families who are suffering or losing loved ones to heritable diseases", and that the sadness she felt when her family members died is "no different than anyone else feels for their family", whether or not they struggle with ALS.
Has our interview changed your thoughts on the previous case study? Would you be tested if you were in Jean's situation? Do you have any questions or comments for Jean? Please let us know by using the comments section below.
References:
ALS Research Collaboration. ARC at the University of Miami
Les Turner ALS Research Initiative. Les Turner Foundation.
National Institute of Neurological Disorders and Stroke. National Institues of Health.
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ZAR – Rand
CHF – Swiss Franc
CNY – Chinese Yuan Renminbi
MYR – Malaysian Ringgit
THB – Thai Baht
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skype id....... live:willibroaddocumentation
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skype id....... live:willibroaddocumentation
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