Raising Awareness About ATTR, One Conversation at a Time

So, this is the way it usually works. Getting the word out about transthyretin (ATTR) amyloidosis. At a social gathering, a doctor's office, or just at the grocery store, when I'm asked, "Hey, how are you?", I always seem to spit out, "Good, except for this rare disease that's trying to kill me." Show stopper.

How people react when I talk about ATTR amyloidosis

The looks get solemn, and I launch into my teachable moment, "Yeah, bad Irish genes." Well, that piques their interest. "You believe that? Especially with a German last name?" Dive into the symptoms next, those that have passed away, and so on. I eventually get the usual lip-service, "I'm so sorry," or "We'll be thinking of you," while moving away, thinking I'm wrong about the hereditary part and I could be contagious. If I get as far as "a mutation in a protein produced in my liver," then I might keep their attention.

My haircut turned into a chance to raise awareness

Today was very different. I went into the salon to get a haircut, met Mary, and explained what I wanted done to the overgrown mop on my head. She noticed the internal metal plate holding my neck together, and I said, "stenosis of the spine. They fused my neck last year. Makes it hard to turn my head." I demonstrate. Then I continue, "I have a rare genetic disease that's trying to kill me off. Bad Irish genes." Sound familiar? I never miss an opportunity to try to bring awareness to this disease.

Comparing carpal tunnel and stenosis symptoms

"I have stenosis, and so does my mom. I'm over 50 percent Irish," she offered. My door was open.

"Carpal tunnel disease? If it's in both wrists, that is one of the major symptoms," I said eagerly. She showed me her scars from surgery on both wrists.

"They want me to have it done again," she said. She's in her mid 40's, married with children. "They've diagnosed me with fibromyalgia, but I don't believe it. None of their remedies seem to be working."

Piecing together symptoms of hereditary ATTR amyloidosis

"I was diagnosed with several things before I had the genetic test that showed the amyloidosis," I said. "Do you have numbness in your fingers and toes?" I asked.

"Yeah, and I also have problems in my heart. They are having a hard time trying to figure it all out."

"I'm no doctor and everyone is different, but the disease I have affects everybody differently," I replied, "the liver produces a protein that delivers Vitamin A and thyroxine from your thyroid throughout the body."

At this point I had her full attention. I could see she was thinking through what I was saying as the scissors were flying.

"My liver has one little amino acid switch in that protein so it tends to break up and form waxy globs that can gunk up any part of my body. It's made my heart thicker and stiffer, harder to beat, and some of my nerves stopped working right. It's called cardiomyopathy and polyneuropathy. But like I said, it can affect everybody differently."

Bringing up ATTR at the doctor's office

"What is this disease called again?" she asked as she pulled out a pen and paper.

"ATTR amyloidosis. Hereditary amyloidosis. And in County Donegal, Ireland, where this mutation originated, it is called Donegal Amy," I offered. "Next time you see your doctor, please bring it up. It just takes a simple genetic test to know for sure. One cool thing is that everyone with Donegal Amy is my relative, no matter how distant."

How one small conversation keeps raising awareness about ATTR

Whoa. This encounter literally took my breath away. This is exactly the reason I like to talk about the disease at every opportunity. It had always been a sort of joke, to say 'bad Irish genes.' But this shows the power of words. You just never know if you can touch someone enough that they will explore it further. Maybe a friend, a relative, or even someone who has some or all of the symptoms.

I am humbled by this interaction. Seeing and feeling the impact that just a brief mention of the disease can make is somewhat scary, but just the idea of helping someone else become aware of ATTR amyloidosis keeps me going forward, one step at a time.