www.dup15q.org

I am sitting on the edge of the tub, watching my boy splash in the water, making the most beautiful noise. He adores music, and although he doesn’t say much, he can hum in perfect pitch nearly any song, after only hearing it once or twice. His favorite for the week is “London Bridge.” He makes my heart hurt in all the best ways. I am blissfully grateful for this quiet, normal night and this perfectly normal bath. 

Yesterday, our Samuel had his first seizure. And, although I knew it may and probably would happen at some point, there is not a thing that can prepare a mother or father for the dread that comes to fruition. I have versed myself diligently on the various seizures that children with Duplication15q can and do have. I have studied. I have become a student of all things chromosome and autism related. But, when he became unresponsive and paralyzed in his car seat, en route to therapy, I freaked out.  That is probably the best way I can describe it. I looked into the “mom” mirror, after he became suddenly silent. He was frighteningly still, with an unblinking gaze. He did not move. I was at a red light, and I shifted the car into park and unbuckled my seatbelt, with more panic than I knew what to do with. I shook his legs, and called his name. Nothing. No sound, no motion. I moved my hand quickly to his face. No flinching, no blinking, no motion. I screamed his name with such guts, but my throat felt closed. I checked for breathing. Breath. Precious, precious, breath. And, I said aloud, “Help him!” And then- a whimper. And then- a blink. And then- a look of confusion. And then- normalcy. 

Cars were passing by on either side of us, and it took a moment for me to remember what to do. My brain wouldn’t work. It was as if I had experienced it with him- as him. I slugglishly came back to reality. I put the car in drive, and I cried. Of course I cried. I sobbed my mama eyes out. And he hummed. This time “The Wheels on the Bus.”  And, I breathed. 

His neurologist sent him to the hospital. He was okay. He didn’t eat for the majority of the day, but by evening his apetite had picked up. 

He has been ordered another 24 hour EEG, and the hospital should call anytime to let us know when it will be.  He had a petit mal seizure, also known as an absence seizure. It lasted roughly 25 seconds. They were the longest 25 seconds of my 38 years. I am certain of this. I think I may have aged a decade in those seconds. Some dup kids have hundreds of shorter absence seizures daily. Some have a few. Some have them every few years. Because the population of Dup15q kids is so small, the variant is wide. Every child is different. Some have them so quickly that they may even go undetected for some time. 

Around 10 last night, I am assuming that the shock and fear of the day began to take its toll. My neck, head, hands, shoulders, and lower back felt like I had been in an accident. And, really, hadn’t I?  My muscles were like rocks, and I could feel my pulse thumping in my scalp. I did not sleep a wink last night. I prayed. I prayed. I prayed. This is our reality, so all I can do is pray. Lord, please don’t let it happen again. Lord, please help him. Lord, thank you that he is okay. Lord, carry me through this. Lord, I am so sad and scared. Lord..Lord…Lord. I call out to You. I carry You in my soul. I know You are there. You will always be here. Thank You, Lord. 

Please, please support research and awareness for this Duplication. Rare Disease Day is Monday. Wear blue for Sam.  Wear blue for these children and adults who deserve research. I implore you. Be a teacher. Tell others.  

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