A Great Start to a Big Rare Week

Thursday is Rare Disease Day. Here's how the week began for me.

DeSoto Falls near Mentone, Alabama

I began this week hiking to a marvel of nature. I’ll end this week on the surgeon’s table.

Michele and I have long wanted to take the DeSoto State Park Overlook Trail to see the straight-on view of DeSoto Falls here in Northeast Alabama. We’ve seen these magnificent falls countless times in the past, me growing up in Fort Payne and visiting the falls often, and us as parents taking our kids there through the years. But those views were always from the side, as that was the only accessible trail. The park has created new trails that give visitors incredible views, both from the top and from the river.

The difficulty level for the Overlook Trail is listed as “moderate” and runs less than a half mile one way. It's a fairly easy walk through the woods — for someone who can breathe, that is. And that brings me to Friday’s surgery.

I believe part of my role as someone living with a rare disease is to educate and raise awareness. So let’s have a little anatomy lesson. The trachea, which we often refer to as our windpipe, is the tube that allows air to flow to and from our lungs. At the top of the windpipe is the larynx, or voice box. Inside that area, you’ll find the vocal folds, two flaps that open and close as you breathe, swallow, and speak.

My diagnosis with myasthenia gravis came in the fall of 2014 and was followed by surgery to remove the thymus gland in December of that year. For reasons we’ll never know, I went into a myasthenic crisis a few weeks later and subsequently spent seven weeks in the hospital. During that time, I was on a ventilator for 12 days.

When you’re intubated, the breathing tube runs past the vocal folds and down the windpipe. Those 12 days with a tube pressing and rubbing against my vocal folds caused scar tissue to develop on these important little flaps. It was years before I discovered why I had trouble breathing with exertion, but we finally figured it out: a scar band across the folds was holding them in place so they couldn’t open fully. I wasn’t getting enough airflow.

We decided, along with my ENT, to monitor the situation annually. The other option was having surgery to remove a small piece of a vocal fold to open up a larger space for air to flow. That, however, carried the possibility of impacting my voice, making it softer and breathier, and I wasn't ready to take that chance.

Fast forward to the spring/summer of 2023, when I was hospitalized for a total of 32 days across three separate stays. For a number of reasons, the myasthenia gravis got out of control to the point that during one of my stays I had to be intubated again. In the months since, my breathing has become noticeably worse. When my annual ENT visit rolled around last month, the exam revealed why.

The short time on a ventilator a few months ago caused even more scar tissue to develop, further impacting my capacity to move air. The ENT said I had lost another 15-20% of my breathing capacity. It was time to do something.

That something is Friday. Surgeons will somehow get a camera and tools through my mouth and into my larynx (modern medicine still amazes me), and will proceed to cut away as much of the scar tissue as possible — the new and the old. They will also remove a small portion of a vocal fold.

The goal of the procedure, in the words of the surgeon, is to “liberate the vocal folds to improve their mobility.” Sounds like a military operation.

The ENT said I will notice a difference right away, and I can’t tell you how excited this makes me. My trouble moving air has limited my physical activity, which has contributed to other health issues, including fitness and glucose levels. The ability to breathe means the ability to move, and so many positive things will come from that.

And this brings me back to the hiking trail. That hike to see DeSoto Falls was a tough one for me. I had to stop so many times and catch my breath. We had to step off the trail and allow other hikers to pass. The hike took us two or three times longer than it should have. It was difficult. But the payoff of seeing those magnificent falls from that angle for the first time was worth it.

Furthermore, the hike will serve as a baseline for me. As soon as possible post-surgery, I’m going back to that trail. I’ll be able to compare treks and gauge the progress I’ve made. As I continue this experiment, I can’t think of a better environment in which to run such a test — a walk through the woods with views of amazing boulder formations and a raging waterfall at the end as a reward for your efforts.

Thursday, February 29, is Rare Disease Day. This annual event is intended to raise awareness of rare diseases, the patients and caregivers who live with these conditions, and the ongoing research to bring new treatment options to market. I’ll be sharing more stories here and on social media as the week goes on.

Thanks for following along with the journey. And if you can, take a deep breath and get outside. Immersing yourself in God’s creation is good for the body, soul, mind, and spirit. I’ll see you on the trail!