PCDH19 Related Epilepsy
“We were thrilled when we learned we were having a baby girl – adding a little pink to the blue our toddler son brought to our family. Our daughter Amanda was around 7 months old when she had her first seizure, and the notion of “pink and blue” soon took on a new meaning. I’d wait for Amanda to “pink up” after having turned blue from not breathing during her seizures. Soon, our family got used to running in and out of hospitals trying one medication after another.
We worried that we were running out of new medications to try when Amanda would have “breakthrough” seizures during treatments. And the side effects of the medications weren’t pretty.
Amanda is now 28 years old. We call our daughter Amazing Amanda, quite simply… she IS. Her strength and tenacity wows me; she is my HERO! My great hope is that the beautiful girls with PCDH19 will not have to go through 17 years (or more) of seizures like she did. In fact, it is my greatest hope! As a parent, it is so challenging to watch as your child’s life is being taken, with days and weeks missed due to seizures and treatments. It’s true too that your life is taken away as a parent, or at least seems to be. But as with any great love, you adjust, manage, and learn to survive. Our daughter gives us strength and reminds us to always have great hope. I dwell in possibilities.”
– Denise Fabio, Mother to Amazing Amanda