On Becoming an Epilepsy Advocate


Years ago, when we were just starting on our journey with PCDH19, someone suggested that I work to raise awareness about epilepsy and Alyssa’s condition. At that point in my life, I was pretty mad at the world and I found suggestion that I become an advocate infuriating. I was fully aware of how this disorder was destroying our lives and stealing my child. I saw no point in making others more aware of our tragedy. More people clicking like on a Facebook photo wouldn’t save my little girl and I honestly didn’t see how it would benefit our lives.

Community Support

I found the Alliance website and Facebook group the day after we got the phone call with Alyssa’s diagnosis of PCDH19. I held back at first though because I didn’t want to be a member of this club. A month later we were back in our doctor’s office to find out what all these strange letters really meant. The appointment was devastating. I walked out of her office without an ounce of hope and melted down in the lobby. When I finally composed myself enough to type, I posted a message in the Alliance Facebook group. Immediately parents from around the globe were with me in that hospital offering a virtual shoulder to cry on and a glimmer of hope. That day I understood the power of our community and what the Alliance does for parents.

Awareness

As time went by, I noticed that when Alyssa wasn’t in a seizure cluster people assumed our lives had returned to normal. No one seemed to understand that the seizures and meds caused lasting damage or that the disorder itself causes behavioral and cognitive issues. I had to fight for her to get the education she deserved and the therapies she needed. I couldn’t count the number of times people assumed this was something she would just grow out of or that could be fixed with a pill. It was such a relief when the Alliance sent us a package of Ladybug cards. We shared them when people who acted judgmentally towards us or wanted more information about our fight. I started to understand how more awareness of her condition could benefit Alyssa and our family.

Research

This summer, Alyssa and I flew to San Francisco for the PCDH19 Symposium. We met with researchers from all around the world. They spoke about the amazing strides they have made in understanding this disorder and finding a cure. These scientists have started to untangle the genetic workings of PCDH19, the typical course of the disorder and possible treatments. These amazing researchers are devoting their careers to a rare disease. They are able to do that because of the financial support they receive from the PCDH19 Alliance. I also learned that genetic testing for the cause of epilepsy is still rare. This is devastating because we now believe as many as one in ten girls who have seizures before the age of three may have PCDH19. That means that thousands of children are not being tested for this disorder and they may not be getting the best treatment. I started to understand how raising funds is making a real difference for Alyssa and children like her.

I also learned that genetic testing for the cause of epilepsy is still rare. This is devastating because we now believe as many as one in ten girls who have seizures before the age of three may have PCDH19. That means that thousands of children are not being tested for this disorder and they may not be getting the best treatment.