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What if you knew you could lose who you are? Your memories?

Updated: Jun 14, 2023

By Melanie Cruz


Life as we know it as young people is taken for granted so often, making memories that are supposed to last forever. People who have a large family history of Alzheimer's Disease, the most common cause of dementia, know they cannot. Three sisters from the Blue Ridge Mountains of North Carolina know this firsthand. "Your grandmother has it, your mom has it, your uncle has it, your aunts have it, your cousin has it. I always assumed that I would have it," one of the sisters Karen Douthitt explains. After years of never knowing exactly why their family was haunted by the disease, the sisters discovered that their cousin who developed Alzheimer’s in her 50s carried one of three mutations that typically cause Alzheimer's to appear in middle age, called presenilin 1. These three mutations make it certain that a person will develop Alzheimer’s, while other genes such as the apolipoprotein E (APOE) gene just increase the chance of a person developing it usually after 65. The news finally explained why many people in the sisters' family, including their mother, developed Alzheimer’s so early, but it also presented a new dread. This meant that the sisters could carry the gene as well, since they are children of a parent who has the mutation, they have a 50% chance of inheriting the gene. After learning of their new situation, they all decided to participate in the drug trials to create a better future for those who develop Alzheimer’s and eventually all of them decided to get tested for the gene. Karen, the youngest, was the first to get tested and her results were negative. June, the middle sister, waited a couple of months after Karen and was unfortunately positive. Susie, the oldest, didn’t want to get tested for many years but ultimately decided it was better to know and she was unfortunately also positive. In the aftermath, the sisters describe life living with genes. Susie feels overwhelming sadness over the future events she will not be able to remember and sadness for her grandchildren who “won’t know her as a healthy person.” Karen says that when Susie was diagnosed, one of the main orders of business was to make a will. June tries to find comfort in participating in drug trials that she knows probably won’t help her but will most likely make a difference for the younger members of her family. Just the anticipation of developing the disease or fear of having the gene that has affected several family members can be devastating and not easy to live with. However, when the disease begins to develop, a person’s health becomes affected in many ways.


There are three stages of Alzheimer’s: early, middle, and late or sometimes known as mild, moderate, and severe in a medical context. Some of the early signs of Alzheimer’s are actually a little common, instances that happen to all of us. For example, during the early stage, some people may forget the names of new people, not be able to come up with the right word or name, have difficulty performing tasks in social settings, forget information that was just read, lose valuable belongings, or experience increased trouble with organizing. As Alzheimer’s progresses, the symptoms get more severe and harmful. Some of the middle stage symptoms include forgetting events and even personal history like their address or college they attended, not knowing where they are or what day it is, needing help to choose the proper clothing for the weather or occasion, having trouble controlling their bowels and bladders, having odd sleep patterns like sleeping during the day and being restless at night, becoming lost and wandering often, and showing changes in personality and behavior. This stage can last for years and patients usually require assistance with daily tasks and the almost constant presence of caregivers. The final stage of Alzheimer’s is where the symptoms are most severe. They require around-the-clock assistance with daily personal care, lose awareness of recent experiences as well as of their surroundings, go through changes in physical abilities, like walking, sitting, and eventually swallowing, have difficulty communicating, and become vulnerable to infections, especially pneumonia. Family members may use hospice care for their loved ones in the final stages of Alzheimer’s. While there is no cure, there are treatments such as Aducanumab and Lecanemab which slows the progress of Alzheimer’s Disease. These treatments are not covered by insurance however and cost around over $2000 dollars a month, money some don’t have. Living with Alzheimer’s is extremely difficult, family members slowly lose a person and that person slowly loses their memories, sense of self, and way of life.


In conclusion, living with Alzheimer's Disease and the knowledge of carrying the gene can be a devastating and challenging experience for individuals and their families. The story of the three sisters from the Blue Ridge Mountains of North Carolina highlights the impact of genetic inheritance and the profound effects of the disease on their lives. The sisters' journey reflects the fragility of memory and the weight of the unknown future that Alzheimer's brings. The impact of genetic inheritance and the profound effects of the disease on their lives are evident. Understanding the stages of Alzheimer's and the progressive loss of cognitive abilities and physical functioning helps us grasp the difficulties and fears faced by those with the gene or a diagnosis. The emotional toll on both affected individuals and their loved ones is immense as they witness the gradual decline of memories, identity, and quality of life. While treatments like Aducanumab and Lecanemab offer hope in slowing disease progression, the high costs and limited accessibility add further burdens to those already facing the challenges of Alzheimer's. Ultimately, these challenges underscore the importance of continued research, clinical trials, and strong support systems in shaping a better future for individuals with Alzheimer's and their families.


References:

NIH National Institute on Aging. (2023, April 5). Alzheimer’s disease fact sheet. https://www.nia.nih.gov/health/alzheimers-disease-fact-sheet


Hamilton, J. (2022, September 12). With early Alzheimer’s in the family, these sisters decided to test for the gene. NPR. https://www.npr.org/sections/health-shots/2022/09/12/1121848232/early-alzheimers-gene-test-experimental-treatment


Mayo Clinic Staff, M. C. (2022, May 7). Learn how Alzheimer’s is diagnosed. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/in-depth/alzheimers/art-20048075


Alzheimer’s Association. (2023). Stages of Alzheimer’s. Alzheimer’s Disease and Dementia. https://www.alz.org/alzheimers-dementia/stages

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