By: Andrea, parent of Payton, a child with a SYNGAP1 genetic change
“Finding the Normal Button”
“We love her for everything she does and is and wouldn’t change anything other than this genetic mutation.”
Around age 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’s going on with Payton. Started with the pediatric doctor and neurologist, genetics and metabolic. Around age two and half, maybe 3, an EEG revealed she was having seizures, which broke our hearts. Many more tests were done all of which uncovered nothing. Until last October 2014 (age 6). When we got a call from metabolics indicting they found what Payton has, SYNGAP1! What is that I asked and she briefly told me it is the cause for intellectual disability and seizures. Wow! No cure as of today, but maybe there will be one day. This was hard to hear, but in the same breath, we had a label an answer as to what is going on with Payton. How does this effect her? She is slower than most children her age. She has apraxia of speech, so she doesn’t talk smooth 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 either due to her medication or her condition. She has low muscle tone and has many accidents and falls from time to time.
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. 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 ability not to have seizures intrude on her capacity to learn and grow. The power to increase her intelligence and grow up and have a career and a family and to 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 for not giving up for our family and many others…