Trail to Diagnosis… It Begins

What is going on? My fingertips were feeling fuzzy, my wrists hurt, and simple tasks with my hands were getting harder. The year was 2002, I was 49 years old and sure it was just aging. I’d put my body through an awful lot in all those years, but this feeling in my hands seemed very strange and disconcerting. After scratching her head, my primary care referred me to a neurologist. I called him Dr. Zap because he introduced me to electromyography (EMG).

Wow, from this point forward I was to enter a new phase of my life.

Electromyography and my early fascination with electricity

I’ve always had a strange relationship with electricity. As a little kid I was fascinated by the way bobby pins would light up when put in a wall socket. And how that blew a fuse. Yep, that process gave me quite a shock.

In my mountain climbing days, at the top, watching the lightning ramble my way, and feeling the static charge stand my hair straight, I still flirt with lightning. So, the EMG was child’s play.

Surgery for carpal tunnel syndrome

“Yes, you have carpal tunnel syndrome,” said Dr. Zap, “strangely in both wrists.” Ok, so what is it? And, what do I do about it? “A release, of course. I will refer you to a good neurosurgeon.” I was about to start a relationship with a young doctor who would cut surgically many times on my body.

I’d spent many years in mountain rescue and had my left Achilles tendon repaired back in Seattle, 1995, so I really had no fear. First one wrist, wait a while, then the other. No problems, just the result of an active lifestyle. So I thought.

ATTR ran in my family

Then my first bombshell dropped. My older brother (by 10 years) was finally diagnosed through a genetic test of this strange disease that had affected his entire body, hereditary amyloidosis. He was 60. His heart and gastrointestinal system were not working right. He had palpitations, shortness of breath, polyneuropathy, as well as alternating bouts of diarrhea and constipation.

This was a scary moment for me. I idolized my brother. He was always there for me and here he was wasting away with some strange disease. I had to help in some way so together we started pouring over any literature we could find. The internet was a lot less developed back then so med school libraries proved invaluable.

My brother's treatment journey

He discovered an existing drug that showed some promise, Dolobid (aka Diflunisal), an NSAID that can act as a binder and remove some of the bad amyloid producing proteins from the body.

So, he started taking it and began his periodic sojourn from Boulder, Colorado to Boston, Massachusetts where experts on this disease practiced. There was really nothing they could do. A pacemaker prolonged his life and organ transplants were out of the question because of the severity of his condition. Too far gone. He suffered from cachexia syndrome and passed in 2007, aged 64, four years from diagnosis. This was devastating to me, and I knew the disease is hereditary.

Coping with multiple health conditions

To compound my issues (and my fears) I was diagnosed with psoriatic arthritis in 2005. The silver lining for me was I convinced my rheumatologist to take me off ibuprofen and put me on Diflunisal.

But I haven’t been diagnosed with amyloidosis yet. Bi-lateral carpal tunnel syndrome was a known indicator, but I could think of many other reasons I had that issue. So did my doctors. This is when my quest, my next adventure, to find out if I had ATTR amyloidosis began.

Requesting a genetic test

By the next year, my 56th, the fuzziness developed in my feet. More EMG’s from Dr. Zap. I requested a gene test to see if I had hereditary amyloidosis (hATTR). They said, "oh no, it is far too rare. You couldn’t possibly have that.” I don’t know how many times I heard just that from many physicians in many disciplines. Another response I received was “Your brother died of hereditary what?”. That was even more troubling but shows the perceived rarity of the disease. I’ve been told that back then it was mentioned briefly in one lecture at med school along with a slew of other rare conditions.

Navigating misdiagnosis

“I have a diagnosis,” said Dr. Zap, “Charcot-Marie-Tooth disease (CMT).” So there it was, a diagnosis. Nothing they could do but it wasn’t going to kill me.

This was 2013, I was 60. The interim four years to this point were full of events. 2010 saw my first knee replacement, 2011 was the second. In 2011 after a spinal MRI I was diagnosed with spinal stenosis. Strangely, a condition that affected not only my brother but my sister, mother, cousin, aunt. My gut told me that the CMT diagnosis was bogus. I would keep exploring.