My Long hATTR Amyloidosis Journey: So NOW You’ve Been Diagnosed

‘Don’t panic,’ I kept telling myself, ‘There IS help.’ When I face a difficult situation, my first move is to always do research. Figure it out. What is it, where did it come from, how’d I get it? Three very simple questions. hATTR, what does it stand for?

What is hereditary ATTR amyloidosis?

Well, the H means hereditary. It’s in my blood, in my genes. Relatives have had it, and have it today. This disease is as much a part of me as my eye color and hair color. This disease is me! It is autosomal dominant - that means it takes only one of my parents with the gene mutation to give it to me, not both.

The A in hATTR simply means "amyloidosis." No brainer.

The TTR on the other hand is the culprit gene. It’s located on the 18th chromosome and has over 120 mutations that can cause this disease. Transport thyroxine and retinol (TTR) is a transport protein. The sinister little devil produced in my body. It’s made mostly in the liver, but also in the cerebral spinal fluid and the eye.

Early discussions with my geneticist

Turns out the geneticist knew my mutation. “You have the threonine substitution with alanine at the 60th position on the TTR gene.”

Wow, not only do I have this mutation on the 18th chromosome, but I have this amino acid substitution at the 60th position.

“You’re telling me, that out of 127 amino acids this one little substitution makes the difference?” I asked. “Yes”, he replied in his most clinical voice. Shocker.

What is the Irish variant of ATTR?

“Ok, anything else to know?” I asked. “Yes”, replied the geneticist.

I prepared myself. He continued, “it’s the Irish variant, first defined in the Appalachian Mountains from Irish immigrants.”

Wow. I am more than half Irish. He went onto explain, “it appears that it originated on the northwest coast of County Donegal.” Well, there you go. My great-great-grandparents were from Donegal. “Also,” he added, “perhaps as many as 1% of the population of County Donegal have this mutation. You are related to them. And, this mutation is perhaps thousands of years old.” "Lots of cousins," I thought.

“Great, what do I do now?” I asked.

Reviewing treatment options with my doctor

This was the spring of 2014. “Not much you can do, go live your life and get things in order,” he said as the shivers of reality screamed in my body. “The Diflunisal you’ve been taking helps. It acts as a stabilizer, essentially gluing the protein together so it doesn't break up into amyloids.” And he added, “there is a little-understood process of ‘penetrance’ in which some people are more affected than others, and it tends to be worse in men.” That would explain why my mother’s symptoms were so much less than my brother’s.

His last bit of advice was, “you should be aware that there are a few clinical trials going on now for a new class of genetically modified drugs. Find a doctor with knowledge of this disease and talk to them. Perhaps the doctors your brother saw?”

Receiving an official hATTR amyloidosis diagnosis

I became waylaid for a couple of years with two spinal surgeries (stenosis), and a fight with pulmonary embolisms. But finally, I found my way to my brother’s doctors at the Amyloidosis Center at Boston University.

They did a thorough and complete eval over 2½ days of testing. Fat aspirate to polyphosphate (PYP) scan. And yes, I suffer from hATTR amyloidosis. It’s in my heart, my spine, eyes, and probably everywhere else.

How I stay proactive in my treatment

As my condition worsened, my wife retired and we moved to be close to family. Then, the clouds parted and the sun began to shine. It was 2018 and we were living in western Missouri. I had an affiliation with one of the pharma companies developing a genetic drug for TTR Amy. They told me of a drug trial that was nearing completion and recommended I find one of the doctors working in it.

So, there I was, across the state in Saint Louis at Washington University being enrolled in an Extended Access Program (EAP) for a new drug. It is a silencer designed to keep the liver from producing the TTR protein. Turn it off. Stop it. It was called Inotersen. I would self-inject it once a week, followed by a weekly testing.

Finally, I could be proactive. Finally, I had hope that this disease may not kill me. Finally, I had a future. Perhaps hATTR amyloidosis could be a controlled - a chronic disease, like my Psoriatic Arthritis.

The lesson I learned? Don’t panic, take control, keep positive, and seek out the help that gives you the solutions.