Fighting hATTR Amyloidosis: A Walk in the Woods

It would be so easy just to stop fighting and give in, throw in the towel, lay down and let it take me. This disease, that is - hATTR amyloidosis. I’ve long planned that at some point I would just go home to the mountains. One last hike, in the outdoor world I love, and then I would sit by a tree, a creek, and just become part of it. Let the critters take care of my physical form and free my essence to the universe. A truly dignified way to go.

How I put ATTR into perspective

Damn, what a selfish thought. I have loved ones that also love me. I care too much about other people to worry so much about myself. So, I put this disease into perspective. Pain is an old friend. I grew up playing sports, climbing rocks and mountains. You go down, you fall off, then you get up, dust yourself off and keep pushing forward. This is no different. So, my feet and fingers are numb from the polyneuropathy; so, I have shortness of breath and on-again off-again Afib from the cardiomyopathy; the gastro problems with alternating constipation-diarrhea; and not to be forgotten, three surgeries fusing two thirds of my spine from stenosis. I hear my father, “get up, shake it off, and get back in there. Does no good to feel sorry for yourself.” If he could see me now, he would be happy.

I am on a mission to help others

It has become my mission to fight on to not only survive as long as I can but to educate and help others cope and deal with it. To not be a burden on my family is my number one goal. I must remain independent. I was 51 in 2003 when my brother was diagnosed positive by a genetic test. He was 60. His diagnosis gave him so many answers to the physical problems he was having. And though the disease was killing him he found relief in knowing what he had to conqueror. And he fought it; he never gave up. He picked himself up, shook it off, and always got back in the game. The amyloidosis won in 2007. He was 64.

This has always been an inspiration for me. So, when he received his diagnosis, we started researching the disease. We learned so much but there was still nothing that could be done. We discovered an old NSAID called Diflunisal that showed some promise, so he started on it and I convinced my rheumatologist to put me on it as well. I credit my brother and this discovery for saving my life.

Diagnosed through genetic testing

In 2014, after two misdiagnoses, I was finally diagnosed positive by a genetic test. This confirmed what I already knew. I was 61. Other extended family members were being diagnosed positive as well and I discovered my mutation, Threonine60Alanine, T60A (T80A), the Irish variant. So, the reality hit, I was not alone in this, I had ‘cousins’ all over the world, especially in Ireland. I have met quite a few of them and trying to find our genealogical links has been enjoyable.

Innovative treatment for ATTR

Today, there is so much that can be done. There are many existing, innovative medications, and more in trials. They are working on drugs to remove the amyloids all together. How exciting and positive. So, for now, my walk in the woods will have to wait. I’m planning on living to be 100.