My grandfather Jimmy and me.
Alzheimer’s Disease
My mother’s father, who we call Jimmy, has Alzheimer’s disease. Jimmy began showing signs or symptoms of Alzheimer’s in 2014 when he was 73 years old and he was officially diagnosed with Alzheimer’s in 2016 at age 75. Alzheimer’s is a devastating disease that destroys memory and thinking skills and prevents people from accomplishing simple tasks. At first, Jimmy became quiet at family gatherings. We thought he needed a hearing aid. Later, Jimmy, who was an attorney, began needing assistance with his cases. At this point, Jimmy met with his primary care physician and eventually with a neurologist. For two years, he was not diagnosed, but then, a cognitive test was performed and during a very sad meeting, the neurologist informed Jimmy and my grandmother that Jimmy had Alzheimer’s. For a few years, Jimmy seemed fine and we learned that he was in the early stage of the disease. He asked the same question a few times and became slightly disoriented. Now, however, Jimmy has progressed to the middle stage of Alzheimer’s. He is no longer sure of who his daughters or his family members are. He also cannot follow simple directions. For example, he does not have the ability to take the garbage out to the garage from the kitchen. He also is unable to unlock the doors in the car and he becomes trapped. In addition, Jimmy cannot put on jackets because his brain now prevents him from deciphering the sleeves.
Chart Depicting the Early, Middle, and Late Stages of Alzheimer’s.
Diagram of a Brain With and Without Alzheimer’s.
While watching Jimmy suffer from Alzheimer’s is very depressing, we as a family try to maintain some normalcy and positivity. I spoke to my grandfather last weekend and he remembered that he played lacrosse in college and that he used a long stick on defense (just like me), but during the same conversation, he became confused and asked my mother the names of her parents. To be honest, Alzheimer’s is a cruel disease and I am curious as to the chances that I may develop it. My mother and I are hoping for a cure one day, which will alleviate the stress of wondering if we will develop the disease.
There are two forms of Alzheimer’s: early-onset and late-onset Alzheimer’s. Early-onset Alzheimer’s usually occurs before the age of 60. If a person’s parent has early-onset Alzheimer’s, there may be a genetic test for this disease. Some people with early-onset Alzheimer’s have autosomal dominant Alzheimer’s disease (ADAD). This form of Alzheimer's is relatively rare: only about 1% of Alzheimer's patients have ADAD. These individuals have a mutation in at least one allele of their APP, PSEN1, or PSEN2 genes. The disease is autosomal dominant, which means only one of a person’s two alleles for the gene must have the mutation. This means that if one of your parents has a copy of the mutated allele, you have a 50% chance of inheriting that allele. The mutation in these genes causes the production of a bad protein, which builds up plaque in the brain and makes the brain less effective. In a clinical setting, doctors are unable to diagnose early-onset Alzheimer’s more easily than late-onset Alzheimer’s. However, people who test positive for the mutant APP, PSEN1, and PSEN2 alleles have a very strong probability of developing early-onset Alzheimer’s. By having a genetic test, family members may eventually be provided with drugs to help them delay the progression of the disease, especially if researchers can find new drugs to treat the disease.
Diagram of the Inheritance Pattern of the Gene APOE e4.
Parkinson’s Disease
My grandfather Rich is my father’s father. He has Parkinson’s disease, which is a disorder that affects the part of a person’s brain that controls movement. It starts with mild symptoms, such as tremors or shaking, and eventually a person’s limbs become rigid or stiff and his or her balance or gait is affected.
My grandfather Rich and his grandchildren.
Diagram of a Brain With and Without Parkinson’s.
Rich was diagnosed with Parkinson’s around 2012 when he first started showing symptoms, such as his hands shaking. Over time, Rich lost more and more control of his body. Three years ago, Rich could still walk around and attend my soccer games. Now, however, he can only walk with the help of a walker and he can no longer get up and down stairs. Rich now mainly sits in a chair. He also needs assistance shaving and getting in and out of bed. Rich and my grandmother were very active travelers, visiting China and Australia, and other exotic places. It is sad that they are no longer able to travel and in addition to the physical condition, Rich is depressed because he feels confined to his home and to his chair. Again, I have recently begun to wonder about developing Parkinson’s.
Rich in his chair.
The genetic links with Parkinson’s are less clear than with Alzheimer’s. Only 15% of people with Parkinson’s have a family history of the disease. As a result, only for some people can it be assumed that there is a genetic risk. Researchers, though, have identified a number of genes that are linked to an increased risk for developing Parkinson’s. Specifically, a person who has a mutation in the SNCA, PARK2, PARK7, PINK1, and LRRK2 genes may be more at risk. These genes code for different things, but the combination of the genes provides a link to developing Parkinson’s. The genes linked to Parkinson’s can be either autosomal dominant or autosomal recessive. If a person has a mutation in the LRRK2 or SNCA gene, then there is an autosomal dominant pattern. However, if a person develops a mutation in the PARK2, PARK7, or PINK1 gene, then it is autosomal recessive. My grandfather is unsure what mutation he possesses (if any), so it is unclear if I have an increased risk of developing the disease.
Diagram Reflecting the Inheritance Pattern in Parkinson’s.
Alzheimer’s: https://www.alz.org/nca/donate.
Parkinson’s: https://www.michaeljfox.org/donate/donate-parkinsons-disease-research.
Very informative, Jonas! :D
ReplyDeleteI really learned a lot from this post, thank you for sharing this about your family. Genetics really intrigues me and it is very interesting how it can affect your future entirely, whether you decide to be tested or not.
ReplyDeleteThis was a really interesting read, and I think that the way you tied your family ties into the article made it a more personal article to read. I also have wondered a lot about genetics.
ReplyDeleteI really enjoyed reading this, and I liked the personal touch that you added. My late great aunt also had Parkinson's, and I think it's super interesting to learn what caused her and your grandfather to have impaired mobility. Thank you for sharing!
ReplyDeleteThank you for sharing this, I learned a a lot! My late grandfather had Parkinson's disease as well. I am hopeful that there will be a cure to these two diseases sometime in the future.
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