For over a decade we did not know the root cause of our daughter Allie's seizure disorder. Having the why unanswered was incredibly difficult, to say the least. I felt like an erratic mother bear searching to no end on everything as to why her brain was broken. Desperately scraping surfaces for any clues. I could not rest well without knowing. Negative on both sides of family history for mental illness, chronic conditions or any seizure disorder. Baffled. I was fishing in ponds of medical guesses, and mentally I was running out of bait.
September 2014, around midnight, Allie age 11, sleeping in her bedroom just down the hall from us. I was in my dark bedroom Googling down a rabbit hole about pediatric epilepsy as I have done a thousand times before. I came across the PCDH19 Alliance website and in one paragraph I was introduced to PCDH19 epilepsy. As I read further the bullet points listing out symptoms were Allies. My eyes opened wide, and my heart was pounding as I read:
What Are The Symptoms Associated
With PCDH19 Epilepsy?
I never heard about this kind of epilepsy. I continued to read the entire site. Feeling excited and scared all at once.
“THIS IS ALLIE!” I said to my husband lying next to me.
What stood out the most while reading posts from other families. A small detail, but a genuine trait of our daughter, was that these children loved swimming just like Allie.
I immediately messaged the website explaining who Allie is and the similarities with other children with the gene mutation. Delighted and shocked to receive a message back at that hour from the admin.
“It sounds like your daughter has PCDH19 epilepsy. Have you ever had an epilepsy gene panel done for her?” From that message, our lives changed.
"No, we have not heard of that. But I will have the doctor order it." I wrote back. Finally, our first solid clue and it was a big one. My mind racing. Could all this be the result of a gene mutation? Could we have an answer from a simple blood test? It was more than I could fathom.
I was mad, outraged, happy and sad all at the same time. My extreme emotions ran through me hours into the night. Why hadn't our neurologist offered this simple test before? I needed that epilepsy gene panel ordered for Allie.
4 o’clock in the morning, exhausted after reading all I could about genetics and PCDH19 epilepsy, I collapsed in a deep sleep. I woke at 9 a.m. called the doctor's office at the Children's Hospital Neurology Clinic explaining that I needed a specific gene tested. I was directed to the genetics department shortly after and was then assigned a genetics counselor. They did their administrative work behind the scenes to get the test ordered and ultimately it was paid for by insurance.
Seven long weeks after Allie's blood was taken, my phone rang. It was the genetic counselor. Her words echo still to this day.
"Joni, you were right, she IS positive for the PCDH19 gene mutation.” I ugly sobbed in the middle of her sentence — the rest of the day a blur.
A bittersweet feeling afterward as our family finally had an answer. Heartbroken, as there is no cure for my daughter's rare gene mutation. The medical treatments are no different. After all, it's only words on a piece paper: important words, no doubt along with a crucial diagnosis.
The fact remains, Allie is who she is and that never changes; however, I am grateful for the unanswered question that was finally answered after ten years of not knowing the WHY. It changed me on the inside. A calm had entered my psyche. My motherly instincts now verified.
Social media; take the good the bad and ugly from it, I chose to take the good from it, and I now use it as an educational tool.
Joni Brown writes about her life raising her daughter that lives with PCDH-19 epilepsy, autism, anxiety and OCD.