MY DAUGHTER'S RARE DIAGNOSIS HELPED ME FIND MY PURPOSE

by Marilyn Schmiedel

When my daughter, Maddy, was 13 months old, our neurologist walked into the room and said, “She isn’t making myelin in her brain. This is very serious.” Then she gave me such a gift, and said, “Some kids get better and we don’t know why.” I knew the entire world was closing in around me, but I hung onto those words for dear life. “Some kids get better and we don’t know why.”

I think, in the back of my mind, I thought I was going to figure out why. My daughter has a form of leukodystrophy. She has a devastating diagnosis, and at the same time, she has no diagnosis. She has been tested for every known leukodystrophy and doesn’t have any of them. The doctors think she has a brand new one. They’re doing gene sequencing on her now. Let me rephrase that. They’re doing gene sequencing on her, always. Since her diagnosis, she’s been tested for this and that, and now they are testing all her genes at once. We’ve been searching for seven years. That blows my mind.

Maddy doesn’t walk or talk. She can’t hold a spoon and has little seizures all day. She has a hard time holding her head up. And she has big blue eyes and this infectious laugh. She really does light up our lives. I never thought my life would be so full. I could never have known at that diagnosis that what seemed like a lonely time would become a wonderful world of people who love our child just as much as we do. There are so many people who care and want to help. She has her own team of therapists, teachers, cheerleaders, caretakers, friends and family. She loves when I ask her if she wants to walk in the Upsee or when her dad throws her up in the air above the ocean waves. She even likes it when her little brother misbehaves and gets in trouble.

My life has changed so much for the better. I was blissfully happy to be a mom before we noticed her problems, but there was something that kept nagging at me. I didn’t understand what I was doing here on Earth. I would be anxious and feel like I was supposed to be doing something and would get tired from being anxious. Then Maddy’s diagnosis came, and I snapped into research mode. I’ve been reading and learning and trying different diets and non-invasive therapies, and some have helped.  While she takes horseback riding lessons, I get to sit and relax in the fresh air — something I probably wouldn’t have done before she was here. I have an appreciation for life that I didn’t have before, and I’m so thankful.

I would give anything to give her a normal life but am so grateful she gave me a purpose I wouldn’t have otherwise had. She’s this incredible little puzzle, and I need to find out why she isn’t making myelin. Maybe what we learn from her can be the reason some kids get better.