Category: Patients

Stephanie Ayars’ family was forever changed after her dad received the news that he had hereditary amyloidosis. In our first post of a two-part series, Stephanie shared her dad’s story from diagnosis to organ transplants, and what led her to get genetic testing to see if she was a carrier for the disease. 

In today’s post, the second of a two part post, Stephanie shares her experience getting her genetic testing results—and the events that transpired thereafter.

I honestly don’t remember the details, but I remember getting a letter in the mail from Mayo Clinic with my AMY gene test results.

POSITIVE

I remember my heart racing as I sat alone in my house in Austin, Texas.

I didn’t know what this meant. I didn’t know if I should tell anyone—especially my dad. I remember thinking that I needed to make some major life changes like no more alcohol, more exercise, should I start doing yoga, my job is too stressful, I should take that trip to France, I need to find a husband because I don’t want to die alone…

I went about my life and continued to smile, but on the inside, my emotions were all over the place. One minute I was hopeful that by the time I am—IF I AM—symptomatic there will be a cure. The next minute I thought who cares what I eat and drink because my liver is crap anyway. And pretty much all thoughts in between.

If I am honest, this went on for months.

After I received confirmation that I was positive for carrying the AMY gene, it took me a few days to tell my family because I needed some time to process the news.

I knew that I needed to tell him—and I knew there would never be a “good” time to do so. He took the news well and was adamant about medicine and science and the progress around AMY. He constantly reassured me that my path would be different and that I may easily go through life never presenting symptoms. Basically, he said everything a father protecting his daughter would say… and I was grateful.

In time, we had more and more conversations about my being gene positive for AMY—and eventually we both just got very practical and discussed the statistical probabilities, the importance of living a healthy lifestyle, and eventually the preventative testing to consider to keep an eye on my health.

We did have one conversation where he apologized for passing along the gene. At the time my point of view was—and still remains—that it is no one’s fault. He didn’t know that he carried the gene and it was important for me to remind him that there is no blame—there is no fault. At some point, it is just science.

In the spring of 2009, my dad and his wife finally returned to their home in Corpus Christi, Texas after a very long year.

Welcomed back by loved ones, the energy shifted from surviving to how to thrive again. Not to downplay the ongoing recovery, there were plenty of tests and doctor visits and difficult moments, but things were moving in a direction where my dad could once again think about future plans, dinners with friends—even fishing!

My sisters and I continued on with our own lives, plans, adventures, accomplishments, etc.—but now we could do so with a greater sense of hope, relief, and gratitude.

On my end, some of the fear and anxiety of AMY was mitigated by watching my dad’s recovery—as he grew stronger, I began to realize that one can heal from such a major surgery. That being said, recovery was slow and the quality of life wasn’t the same as before for him.

My dad and his wife eventually moved to Charleston, South Carolina where they could be close to his wife’s children and grandchildren—and be in an environment that allowed my dad more time connected with nature.

Over the years, my sisters and I got more time to build more memories with our dad—a precious gift! I was able to go visit for more extended periods of time and help his wife with caretaking as my dad’s health did slowly decline. Even then—after everything my dad had been through—he still never complained. While I may have seen through that silence, he always put on a brave face.

On February 14, 2016 my father passed away.

Even when you have years to anticipate and prepare for a death, it’s still incredibly difficult and there is still a journey through the grief.

After my dad passed away, I felt compelled to be a part of the amazing operation that I witnessed at Mayo Clinic. Not being born with the same mind for the sciences as my father, the skills I can offer an employer come in the form of business. And so, 6 years after my first visit there, in August of 2016, I moved with my two dogs from Austin, Texas to Rochester, Minnesota to start as a director of marketing for Mayo Clinic. And my dog, Chester (photo at right) had, ironically, come full circle to where his life began.

There so much more to share and say, but it was a uniquely healing process for me to celebrate my dad’s life and honor his journey by being at Mayo Clinic. My family was concerned that it might trigger difficult memories and experiences, but for me it was the exact opposite. I walked the same tunnels as my dad, listened to the same piano under the blown glass art in the lobby of the Gonda Building, even enjoyed his favorite dark chocolate covered coconut haystacks from the same chocolate stand.

Those moments were sometimes filled with sadness that my dad was no longer with us, but they were never moments when I thought about his pain or suffering. Instead, they were moments that allowed me to think about his life in celebration of who he was and what he overcame.

And now, almost 22 years after the genetic test, I still think about AMY… a lot. But, it’s no longer something I think about every day like it was for many years. I no longer think about my liver or needing an organ transplant one day. Don’t get me wrong, those thoughts still creep in from time to time, but the days of thinking every little ache or pain was the first sign of AMY are behind me.

AMY has become part of me but I am no longer waiting for the day I become symptomatic. I’ve mentally progressed from a “waiting for AMY” mindset to one of feeling in control through knowledge, pro-action, and the right kind of support around me.

In fact, my journey with AMY (my dad and my gene test result) has made me even more determined to follow my dreams. It is additional motivation to take risks and to appreciate that life is short. It has given me the courage to accept my own weaknesses, but to also realize my own resilience. It has helped me to be more honest and communicative with the ones I love. It brought me a dog, who is one of my greatest sources of joy. It has helped me to prioritize experiences of things.

As the latest update on how AMY continues to push me to follow my own path is… I left the U.S. and moved to Nice, France with the dogs. It’s been a dream of mine to live in France since my first trip to Paris at the young age of fifteen. Here is exactly where I believe I am supposed to be right now and AMY has ultimately led me to this opportunity to share my story.

There are so many amazing developments happening with AMY and it brings me great hope. Thank you for reading and, please, be well.

A note from ARC: If hereditary amyloidosis runs in your family or you suspect that it does, having support is paramount. The Amyloidosis Research Consortium offers many resources about the disease, including:

-An introduction and overview of the condition, ARC’s Disease Overview booklet: Hereditary Transthyretin Amyloidosis provides answers to questions such as:

• • How is hereditary amyloidosis inherited?
  • How common is hATTR?
  • What are the different TTR mutations?
  • How likely am I to develop symptoms if I have the TTR mutation?
  • What do I need to know about genetic testing and counseling?

-A synopsis of genetic testing: In our ARC Talks webinar: Genetic Testing for hATTR hear from two genetic counselors as they give an overview of the science of genetic testing and the importance of genetic counseling for ATTR patients.

A specialist on our team can also provide support as well as more information, and resources. Contact us at (617) 467-5170 or support@arci.org