This year marks the 10th anniversary of Purple Day, an international grassroots effort to raise awareness and dispel myths about epilepsy. Did you know that 50 million people worldwide live with epilepsy? That’s 1 in 100 people! Did you know that epilepsy is not a disease and is not contagious? Julius Ceasar, Agatha Christie, and Thomas Edison all had epilepsy.
The normal pattern of brain activity is disturbed in epilepsy, which can cause unusual sensations, strange behaviors, convulsions, muscle spasms, and loss of consciousness- symptoms also known as seizures. Not all seizures are as eventful as those depicted on television. Epilepsy has many causes, including illness, fever, medication, and even sunlight. Triggers can be difficult to identify.
For many, seizures are caused by a genetic change, called a mutation. Some of these mutations result in more than just seizures. Some individuals may have a family history of epilepsy and some may not. These factors can make it difficult to determine what is causing a person’s seizures, but determining the cause is worth the effort. This is because some genetic causes of seizures alter the way a person is treated. For example, for those with a mutation in the gene called GLUT1, it is recommended they be placed on a ketogenic diet. A genetic finding may also alert the clinician to watch for other symptoms that are unrelated to epilepsy, but are still important to follow.
Even when a genetic diagnosis doesn’t alter clinical management, it can be useful. For clinicians, it may end the diagnostic odyssey, which spares their patient from other costly and time-consuming tests and procedures. For the patient and his/her family, it may facilitate personal empowerment or personal utility. The family draws peace from being able to answer the question, “why?” It could also open doors to research projects and gene-specific support networks. Some may also use the information to make reproductive decisions.
In the anniversaries to come, we hope even more will be known about epilepsy. Each year, we come closer to improving the lives and health of those individuals diagnosed with this condition.
If you have questions about genetic testing at Quest Diagnostics, please call 1.866.GENE.INFO (1.866.436.3463) to speak to a genetic counselor.