As an infant, I was always susceptible to extremely high fevers. It was not unusual for a simple viral infection to cause an unusually high spike in my body temperature. It was not a surprise when, at the age of two, I experienced my first febrile seizure, a convulsion brought about by a fever when my temperature exceeded 104 degrees. Febrile seizures generally do not indicate serious health issues and are typically outgrown by the age of five. Unfortunately, that was not the case for me. My seizures continued with fevers and eventually began to occur when my body was at normal temperature. By the age of seven, I had experienced nearly two dozen seizures. The results of several tests soon indicated a diagnosis of epilepsy.
Epilepsy is a neurological disorder that occurs when certain nerve cells in your brain backfire, causing abnormality in brain activity. This disorder causes seizures that affect your behavior and the way you see your surroundings for a short period of time. Most epileptic seizures last from 30 seconds and 2 minutes. Any seizure lasting longer than 5 minutes is considered more dangerous and may often require hospital attention (Shafer, 2014). Over the years, I have fallen into both categories as the duration of my seizures is typically 3 to 10 minutes.
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The underlying causes of epilepsy vary greatly. Research has found that it can arise directly or indirectly from genetic disorders related to a specific gene, a combination of genetics, mutations in DNA, missing or mutated chromosomes, head trauma, infectious diseases, or even developmental disorders such as autism (Epilepsy, 2020). As studies continue to improve significantly, particularly as they pertain to the effects on multiple blood-related family members, researchers now estimate that hundreds of genes could possibly play a role in this disorder. Other factors in recent studies also revealed that nearly 70 percent of epileptic cases are believed to be due to one or more genetic factors: a parent with epilepsy due to a genetic cause has a risk factor somewhere between two to five percent of having a child with epilepsy, and a parent with epilepsy due to a disease that does not run in your family should not pose a risk factor to their children (Pietrangelo, 2018).
The likelihood of inheriting epilepsy differs if someone has a relative with a known genetic case of epilepsy. During such cases, the possibility of developing epilepsy strongly depends on the particular gene and inheritance pattern that is involved. Certain types of epilepsy run through families and are passed down from one generation to the next, while other types of epilepsy may be from inheritance due to genetic changes. An individual may also happen to have a relative who has experienced seizures without having any previous history of seizure activity in their family, which indicates that not all epilepsy cases are inherited (Schachter, 2013). Furthermore, many people who experience some form of genetic mutation may never develop the disorder. As you can see, causal variations of this disorder are many and often baffle neurologists as they are not always able to determine why it affects certain individuals and not others. In fact, they are unable to pinpoint the cause in approximately 30 percent of the cases.
In an effort to understand genetics and the role they play in the development of epilepsy, we must fully define exactly what genes are and how they affect our bodies. Genes are units of genetic information composed of deoxyribonucleic acid, otherwise known as DNA. They assist cells in reproducing themselves and building the proteins that are needed to sustain life. We have two copies of each gene, one inherited from the mother and the other from the father (NIH, 2020). Genes get passed down from each generation through the processes of mitosis, meiosis, and fertilization. Mitosis is when cells divide to create more cells and meiosis are reproductive cells. When these reproductive cells join to create a new individual, it is known as the process of fertilization. It has been stated that “every individual carries DNA variations that might predispose that person to serious physical disease or mental disorder, but not all individuals who carry a genetic disorder develop the disorder” (Santrock, 2014, p.59).
As mentioned earlier, I included certain medical circumstances a possibility that may induce seizure activity. Such was the case for my mother, who was diagnosed with epilepsy at the age of 16 when she experienced her first seizure shortly after suffering a head injury as a result of a bicycle accident. Even though she did not experience seizures as a child, as years have passed by, I cannot help but wonder whether or not this disorder was passed on to me from her. Some studies have indicated that those who develop epilepsy due to head trauma may be more likely to have a history of seizures in their family. In such a case, that family history would suggest it is easier for them to develop epilepsy at any age than for those with no genetic tendency. This particular situation most closely resembles the possibility of predetermining genetics and epilepsy in my family, however, it does not ring completely true for our entire circumstance. My mother was diagnosed in her teenage years, but no other members of her family have experienced any type of seizure activity; the same can be said for my father and his family. While my younger brother encountered febrile seizures as an infant, just as I did, he outgrew them by the age of five. He is now 22 years old and has not had any seizures since then. My mother has had two seizures since her diagnosis in 1984; however, her disease has been fully under control for over 26 years through the use of appropriate medications.
As for me, I have experienced over 40 seizures in my lifetime, from grand mal to partial. I am now 25 years old and had my last seizure about a month ago after having been seizure-free for nearly two years. Although I have learned quite a bit about epilepsy and genetics, I still feel as though I am in the category of the unknown. Six neurologists have studied my case over the years and none have been able to fully answer the question “Why?”. Over the years, I have endured magnetic resonance imaging (MRI), computed tomography (CT), and electroencephalogram (EEG) testing. Some results have indicated abnormalities, while others are completely normal. I have been on more combinations of medications than I care to count. None have been completely successful, however, my current medication continues to give me the most hope. While I battle with the fear of having a seizure every day, I am thankful for this medication because, for the most part, it keeps my seizures under control.
Although I have endured various methods of testing in my life, I have yet to undergo any type of genetic testing. As I grow older and continue to fight this disease, however, my curiosity grows stronger. I am nearing the next stage in my life where I am contemplating starting a family of my own. As doctors are unsure whether or not I inherited the epilepsy gene from my mother without genetics testing, I do not believe my medical treatment would change if such testing did, in fact, reveal a more accurate cause. I do, however, believe that any information I might obtain may improve the long-term outcome of family planning and reproductive risks that can clarify if and how epilepsy is inherited in my family. I also believe genetic testing may help better inform other of my family members of their own risks of epilepsy. Furthermore, this testing could lead to participating in research studies specific to a genetic diagnosis or even accessing other resources, such as advocacy groups (Wojcik, 2019).
In closing, as I continue to study and learn more about this disorder, I am grateful that most children of parents with epilepsy will not develop it, however, I understand that it is still a greater possibility. If I give birth to children genetically predisposed to epilepsy, I will continue to learn as much about the disease as possible and openly and honestly discuss it with them. If they should eventually experience a seizure or any type of continued seizure activity, I would want them to know that they can live a full and active life that includes school, friends, sports, and any activities they may want to safely participate in. Most of all, I would support them fully just as my parents have supported and encouraged me over the years. Living life with epilepsy may not be easy, but I can happily say that driving, college, career, marriage, and even raising a family are all possible for the vast majority of people who have to live with this disorder.
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