Living with hATTR: Get Moving…

Hey, you've been diagnosed with this disease, ATTR amyloidosis. Get over it! Time to get moving and take control. Know that it is YOUR body and YOUR life that we are talking about. Take charge.

First, know that there are solutions to help you live longer.

Second, you are your best advocate. Don't look to anyone else.

Third, there are lots of us in the same boat. Use us, talk to us, we are available and more than willing to help.

Life before my hereditary ATTR amyloidosis diagnosis

I've been living in the ATTR space for more years than I wish to recount. I watched my brother go when there were no options, and my cousin in a drug trial, only to realize what a placebo was. All before my diagnosis. As simple as a genetic test would have been to diagnose, it took 5 years to get it done. Go figure. Luckily, I have many things I can do to SURVIVE this disease, and I've used them and learned from them. We are not healthcare professionals, but we are pros of our own bodies. We are experiencing the effects of the disease day-to-day and month-to-month.

How the TTR mutation connects us across generations

For us hereditary folk, we've been with ATTR amyloidosis since birth (maybe before). This disease has been with us for countless generations. My mutation has let me connect with long-lost 'cousins' in Donegal, Ireland where the original mutation happened over a thousand years ago. That's a lot of cousins.

Encouragement for the day-to-day

It is a day-to-day adventure. Sometimes it's hard to separate the disease from normal aging. Something new will appear, and you think 'amyloidosis' only to discover it's just old age. Trust me, I am very thankful to experience old age. I wear it like a privilege, a survivor's badge, because that is exactly what it is. I try to live my best life day to day. This is hard sometimes, especially when other factors, like the common cold, come calling. There are great days and off days. I learned to respect both. But like my father taught me while climbing mountains when I was a kid, "one foot in front of the other, just keep moving forward."

Find community and support

I've learned to lean on others and in turn, let them lean on me. It's easier to get through this disease as a community and not just by myself. Of course, there is this website (glad you found it) but there are many others to join. Find the Amyloidosis Support Groups site AmyloidosisSupport.org and see where the nearest support group meetings might be. Ask your doctors and nurses - perhaps they can help. Find others on social media. It's a time to be brave and reach out.

Remember, knowledge is power.

Know your type and do your research

I share the same disease with so many others, however, it can affect us all very differently. There are over 120 mutations on the TTR gene that can cause this disease, and each can have very different effects on the body. Luckily, you only have one mutation. Mine, the Thr60(80)Ala, can cause polyneuropathy (PN) and cardiomyopathy (CM), and yep, I have both. Even within the same family (my mother, brother, sister, and son) the symptoms can be so different. My advice here is to start doing the research, ask questions, and if you have the hereditary form, know your mutation. You cannot know too much! These days the information available seems boundless. Worldwide research is ongoing at a rapid pace. Turns out, this rare disease is not so rare after all, but grossly underdiagnosed.

How do we move forward?

Be your own advocate, find others to converse with, and DO YOUR RESEARCH. Yes, you have this disease, but don't let it define you. You must learn to listen to medical advice, let your knowledge help you make your own decisions, and continue to live your life. I've had to make many compromises because of this disease, accept my limitations, and grow from the experience. I'd like to leave you with two things: Number 1 - people like me are available to talk anytime, and number 2 - remember my favorite quote attributed to A.A. Milne and his friend Christopher Robin (remember Pooh Bear?),

"Always remember,
you are braver than you believe,
stronger than you seem,
smarter than you think,
and loved more than you know"