{"id":4504,"date":"2022-12-20T11:11:22","date_gmt":"2022-12-20T16:11:22","guid":{"rendered":"https:\/\/itsyourepilepsy.com\/?p=4504"},"modified":"2022-12-21T11:02:44","modified_gmt":"2022-12-21T16:02:44","slug":"genetic-component-in-epilepsy-and-steps-to-getting-there","status":"publish","type":"post","link":"https:\/\/itsyourepilepsy.com\/es\/genetic-component-in-epilepsy-and-steps-to-getting-there\/","title":{"rendered":"Genetic Component in Epilepsy and Steps to Getting There"},"content":{"rendered":"\n

Blog article written and provided by Epilepsy Advocate Grace Witkowski<\/strong><\/p>\n\n\n\n

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\u201cYou have epilepsy,\u201d are the three words that would forever change my life. That couldn\u2019t be true. I\u2019ve never had a problem with flashing lights. Nobody had ever seen me fall to the ground. This had to have been a mistake. I was handed a printout of a part of my electroencephalogram (EEG), and there, clear as could be, was a seizure. <\/p>\n\n\n\n

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I started researching all the different types of seizures, which took a decent amount of time considering there are over 40 types, each with their own symptoms. I had to learn how to tell people \u201cI have epilepsy,\u201d and eventually stopped being ashamed of that sentence.<\/p>\n<\/blockquote>\n\n\n

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I changed neurologists due to medications not working as we wanted them to. My new neurologist wanted to do genetics testing to see if my epilepsy may have been caused by my genes. I had the conversation about this countless times with my family. \u201cI wonder how long I\u2019ve been having seizures\u201d. \u201cI wonder if this is why I would often get confused in elementary school\u201d. \u201cCould this be why I was always so clumsy?\u201d

So, after finding the right genetics lab, my mom, my dad, and I all swabbed our cheeks and sent our DNA away. It would be a few months before the results would be back. In the meantime, I kept a close eye on my number of seizures per month. On a new medication I had seen that number go from 30 seizures a month down to 3 or 4. <\/p>\n\n\n\n

Any drastic increase meant I had to increase my dosage, which meant I was closer to needing to do a stereo-EEG. My wedding is coming up. I did NOT want to be bald. I had a sinking feeling in my gut as I logged on for my telemedicine visit with the genetic neurologist. \u201cWhat if they found nothing?\u201d, \u201cWhat if they found something that will be detrimental to my future children?\u201d, \u201dWill we ever find out if my epilepsy has been with me for my whole life?\u201d Most importantly I wanted to know: what can this information tell me?<\/p>\n\n\n\n

I heard my doctor start to talk. \u201cWe found a gene mutation, and we believe that\u2019s what is causing your drug-resistant seizures,\u201d<\/strong> was the sentence that finally brought me (some) peace. No more wondering about whether or not I had always had epilepsy. <\/p>\n\n\n\n

This meant that we had gone 17 years without noticing it. 17 years of constantly missing time. 17 years of failing math or English because I missed important information. This is why I always felt \u201coff\u201d. <\/p>\n\n\n\n

This small mutation in my DNA is why I couldn\u2019t drive. Why I never drank. Why I had to go to sleep before everyone else. This small mutation made me who I am. Although it meant that my drug-resistant epilepsy was here to stay, and surgery would possibly not be an option, the test told me why I am the way that I am. And I am so grateful for that information.<\/p>\n\n\n\n

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Blog article on Drug-Resistant Epilepsy by Advocate Grace Witkowski.<\/p>\n","protected":false},"author":12,"featured_media":4558,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[10],"class_list":["post-4504","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-resources","generate-columns","tablet-grid-50","mobile-grid-100","grid-parent","grid-33"],"acf":[],"_links":{"self":[{"href":"https:\/\/itsyourepilepsy.com\/es\/wp-json\/wp\/v2\/posts\/4504","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/itsyourepilepsy.com\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/itsyourepilepsy.com\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/itsyourepilepsy.com\/es\/wp-json\/wp\/v2\/users\/12"}],"replies":[{"embeddable":true,"href":"https:\/\/itsyourepilepsy.com\/es\/wp-json\/wp\/v2\/comments?post=4504"}],"version-history":[{"count":0,"href":"https:\/\/itsyourepilepsy.com\/es\/wp-json\/wp\/v2\/posts\/4504\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/itsyourepilepsy.com\/es\/wp-json\/wp\/v2\/media\/4558"}],"wp:attachment":[{"href":"https:\/\/itsyourepilepsy.com\/es\/wp-json\/wp\/v2\/media?parent=4504"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/itsyourepilepsy.com\/es\/wp-json\/wp\/v2\/categories?post=4504"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}