I have never felt more helpless than when holding Adelaide during a seizure. As they were occurring I would be glancing from her, to the clock, to the pulse ox, with no control over any of them. This is why outside of these moments I’ve clung so fiercely to research. I mean it when I say that research gives me hope. Answers and cures out there, they are just waiting to be discovered. Which can also be a bit maddening when you realize how little is spent on epilepsy research per capita compared to other neurological diseases.

“We get it, you’re passionate about epilepsy research!” 

I hear you, I hear you, I do. But here’s the thing: 70% of people with epilepsy don’t know the cause. This statistic is bananas to me, what is even crazier is that for some reason the neurological community seems to have just shrugged and accepted this as a fact. Really? I am just supposed to be ok with this? Hard pass.

We cannot cure epilepsies (yes, plural) until we can determine their causes and current studies show that at least 50% of epilepsies are the result of genetics. So, when I connected with BioMarin and learned about https://www.canepilepsybegenetic.com/, I was intrigued. I was also incredibly skeptical. In my past experience with Pharma there had been a lot of talk about being patient focused but when I dug a little deeper their programs were little more than positive PR fronts. BioMarin was launching the website last summer, and was looking for patient advocates to help further the conversation around genetic testing for epilepsy. I’m no dummy, BioMarin does have an interest in advancing early diagnosis of CLN2, a rare genetic disorder, but I was pleasantly surprised that the website doesn’t push you toward a specific test. Instead it provides actionable information on genetic testing for epilepsy. When they invited me to attend a round table with other epilepsy patient organizations to discuss perceptions surrounding genetic testing in the epilepsy community I saw a company investing in our population.

I’ve been a proponent of genetic testing for epilepsy for some time now and have done a good amount of research on the topic. A few basic points though, to get us started:

• A person has epilepsy when they have two or more unprovoked seizures.

• Epilepsy and a seizure disorder are the same thing.

• If you or a loved one has some other diagnosis: autism, a specific gene mutation, brain injury - and seizures are a symptom - this is epilepsy.

• Genetic epilepsy doesn’t necessarily mean that it is inherited. It could also be caused by a spontaneous gene mutation.

Here is where BioMarin and I come together and what we both want the epilepsy community to know: genetic testing for epilepsy is no longer the cost prohibitive test it once was. There are programs out there that will cover the cost of genetic testing for young children with epilepsy and even most insurance will now cover the cost of basic epilepsy panels regardless of age - and why wouldn’t they? As I learned in a Seizing Life podcast episode, they are now cheaper than EEG’s! 

Full transparency, there is no guarantee that a genetic epilepsy panel will come back with a diagnosis. Adelaide is proof of that. And even if you do receive a genetic cause there is still no cure. So why bother? <unrolls lengthy list that bounces across the floor a la Santa Claus>.

Genetic tests are simple and either require a swab of your cheek or small blood sample. IF a genetic culprit can be found it comes with the potential for a more focused management plan, the possibility of a prognosis, and foresight of future symptoms - which may be able to be curtailed if not prevented. But perhaps most importantly, it comes with a community of other families walking the same path. 

This of course is the ideal, but what do you do if the test comes back ‘normal’ or with “variants of unknown significance”? There are actually other genetic tests that can be done, whole exome sequencing or whole genome sequencing. I’ll spare you the scientific breakdown of the various tests available and direct you back to my blog post “A True Diagnosis” for a refresher. But it is important to know that science is moving quickly and just because we have mapped the entire human genome does not mean that researchers have the faintest clue what all those genes do. But they are making discoveries DAILY. So, if you had a genetic test done four years ago, maybe it’s time to have another one done to see if anything new pops up. 

I also hear from so many teenagers and adults who have never had genetic testing because when they were going through their early diagnostic journey genetic testing wasn’t accessible - but it is now. Maybe it won’t change your prognosis, or management plan, but the more we know about epilepsy genetics the more likely we are to find cures in the future. If we don’t even know all the genes associated with epilepsy we can’t begin to cure it! It is up to the patients to create the data so researchers can find the answers. What if certain epilepsies aren’t as rare as we think they are? Let’s be real here, we live in capitalist society, which means Pharma is far more encouraged to spend time and money researching new treatments or cures if there are more patients to pay for said treatment. There is power in numbers here folks! But it is up to us to own that power.

Please, if genetic testing was not part of your or your loved ones early epilepsy diagnostic tests head to canepilepsybegenetic.com and learn more. They have print outs that you can take to your next clinic visit with your neurologist to help guide the conversation. If you always thought genetic testing wasn’t accessible to you due to cost, call your health insurance company and ask them! You just might be surprised. If you didn’t receive conclusive results from your genetic test, talk to your neurologist about getting another test done: whole exome sequencing or repeating an epilepsy panel test a few years later.

There is power in information and the more information we have as an epilepsy community the faster we can get our hands on cures. It is our responsibility to keep forcing science forward, no one else will ever care more about the damaging effects of seizures and medication side effects than we will. So, please, keep fighting for answers. We can’t settle for over two thirds of our epilepsy community not knowing why they have seizures. Genetic testing can help close that gap - but we have to get tested first.

Please visit www.canepilepsybegenetic.com to learn more.