Why I Can’t Tell My Own StorySubmitted by Sallie Taylor, Kellie’s Mom
I'm thirteen years old, and I have Sanfilippo Syndrome Type IIIA – the worst kind. It’s a lysosomal storage disorder, but it really means that a few genes can’t make enough of a protein to break down long sugar molecules inside my cells – especially in my brain. I was born this way, but it took my parents and the doctors 4-1/2 years to figure out what was wrong.
Sanfilippo Syndrome is like being in a fight with your body everyday. You never know what part of your brain is still working – what you knew how to do yesterday you sometimes can’t do today. Every cell in my body, but mostly in my brain, is slowly, steadily dying.
I can’t really talk or eat by myself anymore. I need help getting dressed and combing my hair and walking. I choke a lot. When I get sick I stay sick for a long time, because my body can’t fight it off. I have a leak in my heart. My liver is stressed. I have scoliosis. But the worst thing is I can never settle my brain enough to go to sleep. Well, and when something’s wrong, I can’t say what’s wrong, so I yell. People don’t always understand.
I wasn’t always like this. When I was small I could say a few words! I used to downhill ski with tethers. I walked a 5K. I jumped and jumped on the trampoline. That may have been my favorite thing.
I’ve been to therapies forever – OT, PT, speech, art, music, hippotherapy, yoga, swimming, pilates, lymph drainage. At home we do whole-body vibration, melatonin, organic and gluten free food, tons of supplements, homeopathy, hiking, walking, jumping on a tramp, and stretching. Sometimes it’s too much, but sometimes it helps. And my parents say they will keep me walking and doing things that I like.
I hear people around me say I am not supposed to live much longer. I’m not sure what to think about that. So I don’t think about it and just keep trying to do everything I can do – and some things I don’t even want to do – because I am a fighter.
Here’s what I can do. I can walk with help. I love people – especially people who will talk to me and hold my hand. I love music. I’ve ridden horses since I was 1. And I am really good at backbends in yoga. What I think it feels like to be “normal” is how I feel when I’m on a hike, on my mat or on my horse. I feel calm, strong, balanced, and clear. Maybe it’s being outdoors, or the horse, or the pose. Whatever it is, it works, and afterward I’m content.
I don’t know why doctors can’t cure Sanfilippo Syndrome. But I do know that lots of people love me – especially my mom and dad and grandparents. I am Kellie Rey Taylor, and I will never give up.