A few weeks ago I had the opportunity to participate at an event hosted by the United Mitochondrial Disease Foundation. It was a Patient-Focused Drug Development Meeting, which is a complicated way of saying it's a forum where rare disease patients and families share their stories with members of the FDA to help explain the burden of living with a rare condition.
At these events, families share their stories about living with a rare disease. The aim is to add real-world experiences to the conversation to help shape the development of treatments and therapies that can improve the quality of life for patients and families. It's a relatively new phenomenon, as only about 25 of these meetings have been held, despite the fact that there are nearly 8,000 rare diseases!
I chose to share our story through the eyes of Carson at the meeting. He and Chase can't speak, but they see, hear, and understand everything going on around them, and I thought it was important to provide a point of view and a voice from their perspective. To give them a voice that, at the moment, they don't have, but someday will.
A link to a video of the statement is below, along with the full text. Many thanks to UMDF for the opportunity to participate. We'll continue to do everything we can to create more awareness for MEPAN, help get research projects going, and engage with rare and mitochondrial disease communities as best we are able.
Video link: https://youtu.be/Iv7Ww-V2zyA
My name is Danny Miller. I live in Corte Madera, CA, with my wife Nikki and our two sons Carson and Chase, ages 7 and 6. Carson and Chase have MEPAN Syndrome, an ultra-rare condition that results in impaired mitochondrial fatty acid synthesis, presents with dystonia and ataxia and has rendered them unable to walk, move independently or talk. MEPAN is a neurodegenerative condition that spares cognition, but their physical symptoms will likely worsen, and eventually they may suffer severe vision loss. Every day, my wife and I and their aides and caregivers at home and school do nearly everything for Carson and Chase from the time they wake up to the time they go to bed. What I am sharing today is told through the eyes of our older son Carson.
My body doesn’t work like it should, and it’s hard for my brother and me to move like other kids. I tell my brain I want to move my arms and legs, but they don’t listen.I used to be able to crawl a little bit, but not anymore. At night when I’m sleeping my body hurts because I can’t roll over onto my back or side. I can yelp for my mom or dad to wake them up to come and roll me over, but they don’t always hear me, and I have to just lay there and hurt. My dad gets me and my brother dressed in the morning for school because we can’t open and close our hands. We have to wake up extra early because my dad has to change our diapers, put our clothes on for us and get our AFOs on while mom makes us breakfast. I’m 7, but I can’t feed myself, so Mom feeds me and dad gets us into our wheelchairs and down the ramp next to our house and into our van to go to school. We have a special van that kneels, and lots of special equipment in our house, like standers, walkers, therapy benches and bath and potty chairs.
Chase and me get to our classrooms at school and our helpers get us out of the van and set up in class. We have a lot of helpers. I have a helper at school named Jason who is with me every day and helps me move around the classroom in my wheelchair. I can’t sit with the other kids on the floor because I will fall over if I try to sit by myself. When I was 3, I used to be able to sit on my own but I can’t anymore. My hands don’t work very well either and I can’t hold a pencil so Jason has to write for me, but I am learning to use a computer that works with my eyes to help me talk. It’s really hard to use because my eyes get tired, they don’t always look where they’re supposed to, and the rest of my body moves around even when I tell it not it to. I heard the doctor say that pretty soon my eyes might not work anymore. I used to be able to walk a little in my walker but I don’t do that as much. My brother can’t crawl and doesn’t use his walker much either because like me, his legs don’t listen to his brain. The other day some of the kids in my class were playing tag after school and my dad pushed me in my wheelchair to chase after some of them so I could play. That was fun, but I really just wish I could run on my own. I’d be ok with just walking on my own too, so I can go where I want to and not have to wait for a helper to push me in my wheelchair. I have to wait around for a lot of things.
My brother can move by rolling his body a little and he can hold things with his hands, but I can’t. I have some sign language that I use to tell people what I want, but now most days my hands and fingers don’t work like they’re supposed to, and it’s hard for people to understand my signs. I can’t talk either, so it’s hard for me to tell people how I’m feeling or what I need. Neither can my brother. We have a lot to say, and it makes me sad.
Sometimes I see my mom and dad not smiling, and they look kind of worried. And I know they get worried on days when my body gets tight and they have to give me soft food because it’s really hard for me to chew and they think I might choke on something. Mom might have to start putting our food in the blender soon so we can eat it. And she looks worried when our teachers telI her how tired we look at school. My brother Chase puts his head down a lot when he needs to take a break and rest. MEPAN makes us really tired. My mom isn’t as strong as my dad, and since we might be as tall as dad someday I think she’s scared that she’s going to hurt her back again as she’s getting us into our chairs or putting us on the potty. At home she’s always trying to do what our therapists do, like trying to teach us to chew better and sit up by ourselves, but I don’t like that. I just want her to be my mom.
I wish my brother and me could just use our hands to play with Legos, our arms to have light saber fights, our legs to walk and not have to keep going to a bunch of therapies and take pills and drink vitamin drinks every day to help us sit, stand, walk and talk like other kids do. Dad says that there are a lot of other kids whose bodies don’t work so well because of things like MEPAN, and that there are people trying to find out why and help them. It’s ok that everybody is different, but nobody should have different experiences because of things like MEPAN -- that’s not fun for anyone. Especially little kids like me.