Talking With My Family About ATTR Testing: To Know or Not to Know

The day I gathered my children was most memorable. "Hey guys," I said. They were both listening. "You know the disease that took your Uncle Dick?" (That was 7 years before our chat.) "I've got it too. ATTR amyloidosis."

How I told my adult children I have hereditary ATTR amyloidosis

There I said it. The diagnosis finally sinking in. "I think you both should get tested. Knowing is better than not knowing."

Whoa, the idea that I've passed this horrible, lethal disease on to my children was abhorrent. And what about their children? The year was 2014, and new drugs that could help were in development and trials.

I fought for genetic testing and ATTR diagnosis

Oh, that horrible decision: test or no test. Do I really want to know? I fought for 7 years to get the test. Couldn't get one from my neurologist or the cardiologist; however, my primary care provider (PCP) kept referring me. Finally, I was sent to a hematologist/oncologist. All of these specialists were thinking of primary AL (light-chain) amyloidosis, and they thought I needed chemotherapy, a bone marrow transplant, or stem cells.

My kids seemed to be listening to me, somewhat. "Guys," I said over and over, "my brother died of hereditary amyloidosis. No, no, no, far too rare was always the reply. But I knew in my gut what was wrong with me, and I would not be denied."

I thought back to that day. "Turns out, you used to date a friend of mine," I had said to the hematologist. The next thing I knew, the nurse was taking my blood, and with that I would finally know. Yep, positive result; I too carried this familial genetic curse.

How my family reacted to news of a genetic disease

"So, kids," I said, "this scares the hell out of me, but at least I now have answers." My kids are both in their 30s. They said nothing. "I have the Irish variant, T60A mutation. It explains what is causing most of my problems. Now I'm worried about you two. There is a 50/50 chance that you inherited this thing from me, and if you did, you could have passed it along to my grandchildren." As the news sank in, I could see their analytical minds moving.

"Dad, who else had it?"

"Well, your great-grandmother, your grandmother, 2 of her sisters and a brother, 5 of my cousins, and I think your great-great-grandmother. Those are the ones I know of. Oh, and Uncle Dick and Aunt K." Even though we were using Skype, I could see the emotion on their faces.

"You guys should get tested."

I wanted to cry.

Weighing life insurance concerns against genetic testing benefits

That's when the questions started. "What about getting approved for life insurance and such?" they asked.

"Insurance could be a problem, but," (There's that word... "but.") "But it's an issue if you are positive," I continued. "If you know you have it, there could be drug trials you could join, once you become symptomatic."

"If you're negative, there is nothing to worry about. However, if you are positive, let's find those symptoms that are already there." I've found that without symptoms, doctors and insurance companies wouldn't take you seriously.

All humans start producing the TTR protein at birth, but one little genetic change in the amino acid composition of that protein can cause this disease. With my T60A mutation, noticeable symptoms start showing up mid-life. Me, it was a snapped Achilles tendon at 45 and bilateral carpal tunnel syndrome at 49. Both long before I was diagnosed.

My children's genetic testing results for the T60A mutation

Neither of my children had any noticeable symptoms. So, after much discussion, my son did the gene diagnostic blood test, which was positive for the mutation. My daughter and I tried something different for her. My hobby has been genealogy for more years than I remember, and 23andMe is one of my tools. Along with the genealogy info, they tested for the 3 most common ATTR mutations, and T60A was one of them. I bought her the test and crossed my fingers. She came back negative, normal TTR, no mutation!

There is that 50/50 chance at work. Two of my grandkids were safe, but two may need the test. There is always a chance that the amyloidosis mutation in my line stops here, a chance that they received that piece of my son's DNA without the mutation and would both be negative. Fingers crossed.