Ted Keeneghan had an idea of what to expect. His father and grandfather both had the same disease. Now, nearly 10 years after being diagnosed with wild-type ATTR amyloidosis, he’s a part of a small group of patient advocates working to spread awareness.

Amyloidosis occurs when amyloid proteins build up in vital organs like the heart, kidneys, and liver. Symptoms often present as excessive fatigue, unexplained weight loss, numbness in hands, and general weakness.

There are several types of amyloidosis. With AL, the most common type, the body makes too many abnormal proteins. AA is where fragments of serum A protein gather in the organs. ATTR is where the liver makes abnormal transthyretin proteins, and they build up in the heart and nerves. Familial amyloidosis is inherited, and wild-type generally happens as someone ages. For Ted, wild-type amyloidosis has been a slow and steady degeneration of his body and lifestyle — but his experience has not been without hope.

Life with amyloidosis

The Seekonk, Mass., resident first noticed occasional numbness in his fingers and toes, but his symptoms gradually progressed into an intrusive, everyday battle.

“Everything’s changed, my lifestyle is pretty much not a lot,” Keeneghan says. “I try to exercise, but I don’t do a lot of traveling. I don’t eat out in restaurants too often because with my heart issues, restaurant food is not so good for me.”

Keeneghan’s wife, Kathy, has been his caretaker. Her presence is something Keeneghan says has been an absolute necessity.

“Somebody has to help you with things you can’t do anymore,” Keeneghan says. “I feel bad because she has to do everything at this point. Our advocacy group isn’t just for patients, but caretakers as well.”

Amyloidosis’ advocates

Isabelle Lousada, diagnosed with AL amyloidosis over 30 years ago, is the founder and CEO of the Amyloidosis Research Consortium (ARC), a patient advocacy group working to improve patient lives and treatment research.

“[ARC] is really focused on trying to accelerate clinical trials, understand the landscape, and how we can better engage and improve developing research,” Lousada says. “We knew very much from the beginning we wanted to embody the patient voice and experience, but also bring them to research meetings.”

ARC’s advocacy involves internal work among patients like hosting webinars, surveying for gaps in community outreach, open forums where orthopedic issues and symptom misdiagnoses are discussed, and more. Keeneghan, as a member of the patient advisory committee, has found a new way to stay active and participate in a true community.

“If I didn’t get involved with them at all, I think I’d have been far more sedentary than I am now,” Keeneghan says. “I would’ve still had available treatments, but as far as knowing all I know now and what it’s like to live with it, things would be a lot different.”

ARC’s impact has manifested in a variety of ways. Over $24 million in funding for research, clinical innovation, and direct support for people living with amyloidosis, assistance with fostering an environment where seven new therapies have been approved, and overall education for symptoms that have reduced the time it takes for diagnoses, are just a few of the groundbreaking advances the organization has helped with.

There were only five specialized treatment centers for amyloidosis at the time ARC was founded. Now, there are over 40 across the US — several of which are in New England. ARC worked with established and emerging centers to define what a true amyloidosis center should look like: one that diagnoses and treats all types of the disease while taking part in research and clinical trials. 

“Boston in particular is a mecca for health, and one of the first leading and internationally renowned amyloidosis centers is in Boston,” Lousada says. The New England region is a rich nexus for resources for patients, but when it comes to patient advocacy and broader awareness, Lousada and Keeneghan both see areas for improvement.

Building a better future

While the treatment landscape for amyloidosis is significantly further along than it was even just a decade ago, there is more work to be done.

“Even with advocacy, there’s still a way to go,” Keeneghan says. “ARC can only send out information to people who ask for it. ”

Part of that starts with recognizing the impact amyloidosis has on communities as a whole, as well as the individual. Roughly 4-5 percent of African Americans have the genetic mutation for hereditary ATTR amyloidosis, while other variants disproportionately affect people of varying descents, from Irish and Portuguese to Japanese and Italian.

“It’s really important not all types are treated the same way,” Lousada says. “[Wild-type amyloidosis] also seems to be associated with an aging population, so these can be frail patients who have other comorbidities.” It’s a crucial factor when formulating and developing treatments.

Amyloidosis can be cruel. But advocates like Lousada and Keeneghan are taking the hardships in stride and actively working for a brighter future. 

“There’s still a lot of work to do, but right now at least there are treatments that people didn’t have before,” Keeneghan says. “People can know there’s something out here for them right now, and maybe in the future there’ll be something better.”