Finding the Normal Button

At 2, we knew something was going on with our little Payton. She wasn’t talking as much as her sister. It took her almost 17 months to walk. We always called her our quiet child. During this time, we started looking into tests and procedures to uncover what was happening with Payton—beginning with the pediatric doctor and neurologist, genetics, and metabolic. Around age two and a half, maybe 3, an EEG revealed she was having seizures, which broke our hearts. We moved on to more tests were done and all of which uncovered nothing. Until last October 2014 (age 6). When we got a call from metabolic indicating they found what Payton has, Syngap1!

What is that, I asked? And she briefly told me it is the cause of intellectual disability and seizures. Wow! No cure as of today, but maybe, there will be one day. The news was hard to hear. But in the same breath, we had an answer. An answer as to what was going on with Payton. How will this affect her? She is slower than most children her age. She has apraxia of speech, so she doesn’t talk smoothly like everyone else. She has to stop and think about what she wants to say. Payton is like a drunken sailor. She is off balance due to her medication or condition, low muscle tone, accidents, and falls occasionally. She works hard to fit in and wants to be accepted. She is loved by many, and her smile lights up the room. She is amazing to me with her determination to try hard and stubbornness to be independent.

We have tried cheerleading but couldn’t keep up with the routine. Swimming, but wasn’t accepted on the swim team. Softball, which we never got to hit the ball and be on 1st base. Now in soccer and trying hard to find a sport of her own. Her ability to not have seizures intrude on her ability to learn and grow. She loves to create and color and paint. She might be an artist at heart. We love her for everything she does and is and wouldn’t change anything other than this genetic mutation. If we could give her anything in life, it would be to have all the abilities that the rest of us have. The power to increase her intelligence, grow up, have a career and a family, be loved and appreciated, and give back to the world in a way that she would enjoy. I pray that continued research finds solutions to help us find the normal button. Thank you for reading our story and not giving up on our family and many others.