In honor of rare disease day, that’s today by the way, I thought I’d be vulnerable, and share my journey with this rare disease of mine.
Around the time I was 18 months old, my parents realized something wasn’t quite right; my cute little baby shoes weren’t easy to get on my feet. After talking with a pediatrician, it was recommended that my parents take me to a specialized children’s hospital. My parents took me to a bunch of different doctors, had genetic testing done, and a bunch of other stuff, but there were no answers.
At the age of three, my face changed almost over night as I lost muscle strength on the right side of my face. It was thought that I had a stroke, but doctors confirmed I didn’t. Shortly after, my parents noticed my hands were contracting.
Throughout my childhood, my parents made sure to follow up with specialists, get physical and occupational therapy for me so I could live my best life. It never showed, but I know it must have been extremely exhausting, draining, and a mix of other emotions as doctors kept saying they didn’t have an answer or that I was so unique.
I remember in fourth grade being so confused about why I was made this way, thinking I was an alien. My parents always knew what to say to make me feel better.
At 17, I decided I was done with doctors, and basically dropped out of care. I just wanted to keep living my life, and not hear how interesting or unique I was. It got exhausting hearing that appointment after appointment.
Around age 23, I realized, but didn’t admit that my abilities were changing.
Fast forward to age 27 when I had the opportunity (and was willing to get into all this again) to do some genetic testing through The Speak Foundation. When the results came back, they were basically inconclusive (some unknown female variant of Duchenne muscular dystrophy).
Just a few months ago, I had a whole genome sequence done; they tested 22,000 genomes. I figured with about only 25,000 genomes in the human body, they’ll have to find something! When I got the results back, they didn’t find anything. I was beyond upset as I was really hoping to get an answer. I cried, I was mad. But then one day when the snow was quickly coming down, I was talking with one of my beautiful friends who reminded me that God has this under control. He made me, just like He made each of the snowflakes falling from the sky.
And while 30 years later, my parents and I still don’t have an answer, I am holding on to this hope. Plus I decided (and I think science did too), I’m basically a unicorn, and unicorns are amazing!
Xoxo
Jess
