When You’re a 'Poster Child' for Your Rare Disease

I will never forget the day I saw what the more common characteristics of someone diagnosed with MAC lung disease were because it ALL described me at the time I was diagnosed!

60, female, naturally thin, living near coastal waters in a humid area (Hawaii island for me), and Caucasian or Asian (Caucasian in my case).

It felt as if I had been doomed to get this disease, and it led me to worry excessively that I might never beat it.

Discovering the cause of my rare disease

Over the next 6 years, as I read more about MAC lung disease, I learned there are many reasons why someone might be prone to it, and these characteristics were just more common among patients.

I got myself to the disease experts at National Jewish Health in Denver and was put through 6 straight days of tests by the infectious disease experts there. I learned that undiagnosed/untreated cystic fibrosis (CF) was the true cause of my particular case of MAC lung disease.

The main causes of my MAC lung disease were CF, along with the high-exposure rainforest area I lived in for 4 years before diagnosis. I learned that my natural thinness was caused by the CF I had been born with. CF caused an inviting thick mucus environment in my lungs, and that thick CF mucus in my GI tract had been blocking nutrition absorption, and this had caused both low body mass index (BMI) and lowered immunity.

Wrestling with what it means to be a poster child patient

Still, being a poster child patient wasn't a fun thought. I struggled a bit emotionally with the thought that I might never beat the disease due to a BMI that is very hard to change at this point in my life.

I offset it with thoughts that being a poster child patient might help me with researchers and providers targeting studies and treatments for people like myself.

My up and down treatment journey

I have finally realized that it was all just a mind game of sorts as I went through the rollercoaster of emotions that a rare disease diagnosis brings. Because I still needed to get onto treatment and tolerate the medication.

Unfortunately, I wasn't able to tolerate the drugs back in 2018. I lasted only 4 months while losing 10 pounds from them and have since failed using a powerful inhaled drug. But I am now tolerating 2 MAC lung antibiotics and have tested negative for 8 months.

Being treated for CF with a gene modifier drug has helped both my lungs and GI tract have more normal mucus and increased my chances of achieving a cure. Fingers crossed to finally clear this thing and not get reinfected.

What does a 'typical patient' look like?

Have you ever learned what a "typical" patient with your rare disease looks like? If so, how did that information affect you? Did you learn why you might have been a typical patient?

Please feel free to share your personal experiences in the comments section below. Best wishes to all of us rare disease warriors along our personal healthcare journeys!