Today Sonya had a "routine" EEG (yes, similar to our oldest having a routine dance class-it's just part of the schedule) and during the 45 minutes I was holding her, thoughts sporadically entered my mind. I started to think about the fact that I was raising awareness for CDKL5. A genetic disorder I never even knew existed just 7 weeks ago. A genetic disorder that is so rare, it is known by its genetic makeup because no one has laid claim to it. A genetic disorder that is robbing me of my long anticipated perfectly healthy 4th child.
Sonya was breastfeeding on and off during the testing, and when she wasn't eating she was attempting to sleep in my lap. I couldn't help but wonder, what outward characteristics would Sonya display if she did not have a mutation on her CDKL5 gene. Would she be spunky like her sassy sister, sensitive like her brother, have a contagious laugh like her oldest sister? Would she still love music, fall asleep in a swing, in her carseat on the go? Would she smile all day long and be one of those overly happy babies or more like her oldest sister who until she was beyond a year would rather give the stink eye?
When you are bringing awareness, you have to be experiencing the cause. In order to educate, you have to have first hand knowledge. You have to relate to the topic in some manner to truly have a passion for your purpose. With every fiber of my being I want to know Sonya. I want to know her likes and dislikes. I want to know her favorite color and if she prefers Minnie Mouse or Elsa. I want to hear her first word. I want to beg her to go to sleep because she is reading 18 books in her bed. I want her to fight with her siblings. For all of these reasons and so many more I am begging you all to help raise awareness. HELP US FIND A CURE. Help us give ALL parents with children who suffer from a CDKL5 mutation answers to these questions and so many others we wonder on a daily basis.
We are small in number. It is impossible to do this with the less than 600 members in our Facebook support group. But with each of YOU it is possible. Share Sonya's Story. Participate in the push-up challenge Sam and I started (#cdkl5challenge). Spread your knowledge of CDKL5 to everyone you know.