AARP Hearing Center
PHOTO CREDIT: Alnylam Pharmaceuticals
For many people living with ATTR (transthyretin amyloidosis)—an underdiagnosed disease that involves the buildup of TTR amyloid in the body1—one thought that can linger after diagnosis is: I wish I had known sooner. Earlier answers can mean earlier treatment—and a jump-start toward slowing the progression of certain types and symptoms of ATTR.2,3 Scott and Kelly know this all too well. Both spent years trying to make sense of seemingly unrelated symptoms, before learning they were living with forms of this rare disease.
Now, they’re using their experiences to help others recognize symptoms and take action sooner.
Scott’s Journey: A Fighter, Through and Through
Scott is a loving husband and happily retired from the medical field. A dedicated martial arts trainee and fighter for more than 25 years, he has always believed that the timing of a kick or block is the difference between winning and losing. In many ways, he learned that timing is just as critical in life and health.
After surviving a rare form of skin cancer, Scott believed he’d already faced the health battles of a lifetime. But over the years, he experienced symptoms that didn’t seem related and had no easy explanation. Carpal tunnel syndrome that required multiple surgeries, shortness of breath, and dizzy spells.4 After hearing Scott was on to his 4th carpal tunnel surgery5, his cardiologist ordered a nuclear imaging test of his heart and the results were unexpected: ATTR amyloidosis with cardiomyopathy (ATTR-CM).2 Looking back, his symptoms had likely started 17 years earlier.
Much like he’d approached his training in martial arts, Scott decided he wouldn’t give in to this new opponent. “I dug in and began researching medical solutions to these challenges and I worked with specialists to get more answers,” Scott reflected. After consulting with his healthcare team, Scott began his treatment journey with AMVUTTRA® (vutrisiran), a treatment for ATTR-CM, with the goal of slowing the progression of this disease.6
PHOTO CREDIT: Alnylam Pharmaceuticals
Kelly’s Story: Turning Loss Into Purpose
Kelly is an accomplished woman of strength, faith, and optimism. She’s earned three degrees, raised two daughters, and built a successful career in life coaching. She’s also endured a family tragedy and years of health issues that have shaped her resilience and drive to keep moving forward for herself and her daughters.
When Kelly’s father passed away suddenly at the age of 39 after experiencing shortness of breath, pain in his legs and feet, and a cough that wouldn’t go away, she and her family were left with only questions. Years later, Kelly and her sisters began to experience similar health issues. “As my sisters and I grew older, we all began to struggle with strange symptoms, similar to what my dad had experienced,” she said. “I was 24 years old when I started suffering from pain and numbness in my feet and ankles.3,7 Sometimes the pain was so bad, I couldn’t even walk.” It wasn’t until years later, after seeing a neurologist specializing in amyloidosis, that a genetic test confirmed Kelly’s diagnosis of hereditary ATTR amyloidosis with polyneuropathy (hATTR-PN).2,3 “This explained so much! Immediately I thought of my Dad,” Kelly shared. “I believe this is what he had and I believe this is what ultimately took his life.”
Over time, Kelly also developed cardiac symptoms.3,8 After working closely with her specialist, they decided on treatment with AMVUTTRA, which treats hATTR-PN, as well as ATTR-CM.6 With AMVUTTRA, Kelly can take a medication to slow the progression of both nerve and heart damage caused by hereditary ATTR.
The Potential of Slowing Progression and Moving Forward
In ATTR amyloidosis, transthyretin proteins misfold in the blood and build up as amyloid deposits in the body.9-13 AMVUTTRA is a silencer therapy that treats both ATTR-CM and hATTR-PN. As a silencer, it works by decreasing the amount of TTR protein produced in the liver, meaning less can misfold and build up as amyloid deposits in the body.9,10,14,15 AMVUTTRA can cause low vitamin A levels, which can affect vision, so daily vitamin A supplementation is recommended. Other side effects include pain in the arms or legs, pain in the joints, and shortness of breath.6 So, what has this treatment meant for Scott and Kelly? “Knowing there are FDA-approved treatments available and specialists who are well-versed in these options gives me hope—not just for myself, but for others who may face this diagnosis in the future,” Scott shared.
Kelly continues to consult with her doctors about her symptoms but remains positive. “Since my diagnosis, I have made choices that allow me to focus on my health and on building a better life for my daughters,” she noted. “I’d like other patients who may be battling this condition to know that you don’t have to let it define you.”
