I Thought My Symptoms Were Disconnected — Then I Was Diagnosed With This Rare Disease

It all started very innocently. I was walking to my car after work one day when I suddenly fell down. I didn’t think much of it, but then a couple of weeks later, it happened again. 

I went to my primary care doctor and let him know about the falling incidents. He did some muscle tests, but couldn’t find any weaknesses or concerns. I started to get really scared, because I didn’t know what was happening, and I didn’t know how to figure it out. 

Fast forward a couple of months, and something even more bizarre occurred: The skin on my hands and bottom of my feet got swollen and started splitting open. They eventually got so cracked and bloody that I couldn’t do anything with my hands. 

I went back to the doctor, and they told me they’d never seen anything like this. They assumed it was some kind of allergy, and sent me to the dermatologist. I went back and forth to the dermatologist for three months—he tried all kinds of different treatments and creams, but he didn’t know what was going on. He then sent me to a major medical center where they did full-scale allergy testing, and it all came back negative. The doctors were at a loss. 

In the meantime, my doctors still had no idea why this happened in the first place, so I was referred to a rheumatologist. Again, after trying multiple different tests, he was stumped for months. Then one day when I walked into the office for my appointment, he looked at me and asked how long I’d been short of breath. 

I told him I hadn’t noticed any issues, but he pointed out I was short of breath after just walking from the waiting room to his office. Immediately, he had me take a pulmonary function test, which revealed I had lost 52% of my lung capacity. 

For the next few months, the rheumatologist continued to decipher what was causing this lung decline. I took nearly 30 blood tests, and they all came back negative. 

Before getting my diagnosis, it was really scary, because I always thought each breath could be my last and I might die in a few years because I was losing lung function rapidly. 

Fortunately, after my diagnosis, I was connected with a great pulmonary specialist who assured me my condition was treatable. This was the first sense of hope I had in almost a year, since my health journey began. 

I was immediately put on immunosuppressive drugs and sent to pulmonary rehab—it was especially important to keep an eye on my lung function because if I’d lost even a couple more percentages, I would have to be on oxygen full-time.

The pulmonary rehab helped me to not only learn more about the disease but also gain a better awareness of my body. The doctors were trying to do everything they could to keep my lungs at the point they were. While they will never recover, we were trying to keep things from getting worse—which has proven to be successful over the years. 

It’s been nearly a decade since my initial diagnosis. After sticking to the proper exercises and supporting my lungs, I’ve now been able to stay off my medication for three years without decline. For that, I’m utterly thankful. 

This disease impacts my day-to-day life in so many ways. I still have a limited walking capacity—I can only go so far without having to stop and catch my breath, and hills are always an issue.

To keep my body from getting to that point, I’ll try to take frequent breaks. I also need to be careful about carrying too many things, which can exacerbate the challenges. Because of my condition, I need to bring portable oxygen with me at all times—but since the regular size was too heavy for me to carry, I had to find lighter weight units that didn’t make issues worse.

Since my diagnosis, I’ve been incredibly vocal about advocating for more research into this disease—I’ve even gone to Washington D.C. to speak to my representatives.

What’s more, I run a support group of people with the same issue, where we can all talk to each other about what we’re going through.