This post is sponsored by Invitae. All opinions expressed here are my own. 

Exploring Possible Causes of Epilepsy: Invitae Genetic Testing

Most of my readers are aware that my 13 year old son Ayyoub has been battling epilepsy for most of his life. If you’re new to the blog, my teenage son was diagnosed with epilepsy at 3 years old. Some years have been easier than others to manage this chronic illness, but as he began to reach puberty, his seizures have ramped up and been difficult to control. He takes four different anti-epileptic medications daily along with a host of vitamins and supplements. He’s had a multitude of tests and hospital stays. If you’re following me closely on Instagram I’m sure you’ve witnessed a lot of our journey as I share there the most. We’ve been on a mission to find a cause, cure and specific treatments for his seizures. He has frontal lobe epilepsy, which means his seizures stem from the front of his brain. He has normal MRI’s and his EEG scans confirm nothing more than frontal lobe epilepsy. There are many parents like me who just want more answers to address this chronic illness. 

Invitae Genetic Epilepsy Testing

Recently we decided on genetic testing with Invitae. Invitae is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people like you and me. Invitae is creating a world where genetic information is accessible and affordable for everyone. They offer a genetic epilepsy test that is a non-invasive method to diagnose a genetic form of epilepsy in children and adults. Surprisingly some forms of epilepsy can have an up to 80% genetic basis.** Genetic test results could help confirm diagnosis, predict prognosis, guide treatment, and it encourages testing of other family members to determine risk. The Invitae Epilepsy Panel analyzes up to 290 genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures. 

**Shellhaas RA, Wusthoff CJ, Tsuchida TN, et al. Profile of neonatal epilepsies: Characteristics of a prospective US cohort. Neurology. 2017;89(9):893-899.

We got our Invitae genetic test in the mail quickly, and it’s easy to administer. There are step-by-step instructions included inside the test. You simply follow the instructions, label the test, and drop it back in the mail. It only takes a few minutes to do. If your child has trouble with following the instructions which involve putting saliva in a tube, you can also request a swab to make things easier. That works great for children with disabilities. The results are available online in a few weeks. Prior to testing we had a zoom call with a genetic counselor to walk us through the process and answer any questions that we had. After the test results are available, you simply schedule another call with a genetic counselor and they will go over the results with you, and the next steps to take whether it be more testing of family members, and speaking with your doctor. 

We were able to take the results from Ayyoub’s genetic testing and schedule an appointment with his neurologist to further discuss, and possibly come up with a more specific plan to treat his epilepsy. My husband and I are even considering the Invitae testing for us, as it’s no charge to parents who have their children tested, whose children have positive results, for further answers on our journey. I’m very grateful we went through the process as we put together the puzzle pieces to determine the best steps for my son’s health. 

To learn more about Invitae’s Genetic Epilepsy Testing please visit https://bit.ly/3fFiQsX