Meet Emily

If you had a little more energy, what would you do with it? If your hands felt stronger or getting out of bed came easier, what would that feel like? If you felt more motivated to do the things you love, how would your life change?

For those of us living with myotonic dystrophy type 1 (DM1), a disease that can slowly take away so much, questions like these are rarely something we get to consider. But what if we could? What would that life look like? A place where you could live out the dreams you’ve always had. A life that isn’t defined by a diagnosis or challenges that sometimes feel impossible to overcome.

My diagnosis came five years ago, and only two years after my first symptom. I was a morning news reporter, anchor and meteorologist in the Midwest, and one random morning while live on air, I suddenly couldn’t pronounce the words that were rolling across the teleprompter in front of me. I didn’t think much of it at the time and felt grateful nobody seemed to notice.

The following year, this began to happen with a bit more regularity, but always in a stressful moment. I have a family full of healthcare professionals who were puzzled, but we bounced around the possibility that it was stress-induced or an electrolyte deficiency or something else even more benign. I continued to scour the internet high and low, as any journalist would, but to no avail. This was a terrifying time for me, imagining the worst and getting on air daily, never knowing when or if I’d struggle to get the words out.

Many months down the road, a similar thing started happening in my hands, at first while opening a sealed jar and later while cutting bread. At this point, I knew something wasn’t right. I walked into my first neurology appointment with a list of the strange symptoms I had been experiencing. I showed the doctor how my hands would freeze while pulling off my boots. I explained that a similar thing would happen to my mouth after biting into a sandwich. I also mentioned how much worse my pronunciation became in the cold. He told me I was describing many hallmark symptoms without realizing it, and I walked out with “Myotonic Dystrophy” circled across the top of my After-Visit Summary. There weren’t any treatments or cures, and a few months later, genetic testing confirmed what he had suspected.

It took many months and several cold calls, but eventually I found a neurologist who specialized in this disease. He explained that while we couldn’t treat the disease, we could manage some of the symptoms with medication, physical therapy and assistive devices. I specifically remember him saying with confidence, “There will be treatments in your lifetime.” But how far off would that be? I wasn’t going to place my hope in something that could be decades away. Fast forward five years, and the lens through which I see this disease now looks very different than it did in those first few months.