Hyperekplexia

He is just six years old but he’s lived quite the adventure thus far. He is a tenacious child with a magnanimous smile. He is sensitive to the world around him. He worries. He has a thirst for knowledge and an excellent vocabulary. He’s practical and creative. He will pull you in and captivate you. He has been challenging me since 20 weeks gestation. One day I will chronical our journey. Just not today. Today I need to write about him and his falls.

He falls a lot. And to no fault of his own. Mostly. Like when we wants to look backward while walking forward. That’s totally his fault. But generally speaking, he isn’t clumsy. In fact, he is quite intentional with his movements and at times, highly agile. Other times not so much. He has a genetic neuromuscular disease/disorder/condition. Different literature uses different terms. I hate them all. They are all such negative words. But it is what it is. He is who he is.

There is no greater guilt I have. I feel terribly guilty for having given him that defected gene. It’s in my blood line. The chances were 50/50. And he got the 50. It comes from my father and his mother and her mother and so on.

Hyperekplexia.

It is categorized as a rare disorder. According to NORD, Hyperekplexia affects 1 in 40,000 here in the US. Based on today’s population, I should be able to find approximately 8,000 comrades here but I only know of those who share my genes.

His genetic testing confirmed familial suspicions in April 2010. His mutation resides in the gene GLRA1 on exon 7. He also has a defect on exon 9. The 9 is unknown.

NORD describes the defect in the gene as follows:

“The genes that cause Hyperekplexia are involved in the production of the glycine protein Glycine diminishes the action of nerve cells in the brain and spinal cord. It is known as an “inhibitor transmitter”. If the glycine receptors are interfered with in some way or damaged, the nerve cells lack their inhibitions and thus react to stimuli too easily and excessively.”

In regular people words – he falls a lot and when he does he falls hard. If he is startled, much like any other person, he will react but his reaction is more severe. He will describe it as a little painful, like everything inside his body stops for a second. The start of a fall is just like a startle – everything stops for a second – and in that second he cannot adjust his body to avoid an object, he can’t put his hands out. His muscles are flexed, frozen in time. His body cannot loosen and absorb the blow. He. Hits. Hard.

He is just a regular everyday kid to me. Until he falls or startles and then I remember.

He fell yesterday. He got 4 stitches and a busted nose. As we were checking in at the registration desk the nursed asked him what he hit his head on and he said “table”. She said “ok, head vs table”. And  he eagerly replied with “yeah and I’ve already had head vs concrete and head vs pole and head vs wall”. We all chuckled, his delivery was comical. He enthusiastically told the doctor his friends and teachers call him “bruiser”. He has a decent public disposition about his condition. He knows he has it. He can pronounce it and explain what it is in normal people words. But when it’s just us, on a day that he’s had a fall in front of people other than his family, he will disclose that it weighs on him and that it frustrates him. That it embarrasses him.

That is what cuts deeps. That’s the guilt I have. I want to fix it. I can’t.

I remember breaking down after confirming the diagnosis. It was the first time I had really cried about him and all he’d been through in his 7 months of life. I was heartbroken and I feared for his future self. I worried and cried about his potential tolerance (or lack thereof) for shitty kids who tease relentlessly. Fear of the unknown.

And it’s weighing on him now. All I can do is reiterate how we’re all different. And to not worry about the other kids. No one at school, to my knowledge, has teased him for it. So far, it’s been compassion and worry for his safety when he has a fall. I can only hope it will stay that way.

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5 thoughts on “Hyperekplexia

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  1. I remember one time your brother fell in the playground at elementary school. I don’t know if he’d remember it like I do because it was a fairly common occurrence for him, yet the first time I had been there to see it. (It was one of the times he hit his chin). The whole thing still bothers me today when I think of it.

    I remember seeing him trip, falling stiff as a board, and I was helpless to stop it. Even though I was with him, I was just not quick enough or close enough. I remember the blood and bits of the blacktop gravel imbedded in his skin. I remember wanting to stay with him, but knowing I couldn’t do anything. The teacher on duty finally got to us, helping him as best she could. Then I ran inside as fast as I could to get help. I remember thinking as I ran that I hadn’t made sure I had permission to leave the playground. It’s ridiculous for a kid to think about the rules in that type of situation, but you know I was always the “good girl.”

    As I write this I’m realizing that I’m not really adding anything insightful, but I wanted to share. It certainly affected me. I mean, I still remember it like it was yesterday.

    I don’t know how your brother truly feels about having hyperekplexia. We never had a deep conversation about it, but he seems to be having a happy life. I’d hope that your son would see his uncle and realize he isn’t alone and that you can have a good life with these genes.

    And think of it this way, there’s always some quote that states, “Life is meant to be a challenge because challenges make you grow” or “If it doesn’t challenge you it doesn’t change you.” I know. It still sucks. It’s only natural to want the best for your kids. But I get the feeling that you’re an awesome mom and that he’ll be fine.

    Liked by 1 person

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