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Patient Stories

Carlos, David and Vince

Consider for a moment how you met your closest friends. Bonding over a common interest, like rooting for a favorite sports team or enjoying weekend excursions together, is how we naturally form alliances and friendships that sometimes last decades.

But imagine a bond that has been forged through a far more serious commonality – a rare disease that can be life-threatening.

Carlos, David and Vince became friends and colleagues because they are all living with transthyretin amyloidosis (ATTR). Their paths had crossed during several chance encounters at doctors’ appointments and disease community events.

Together, they now run the U.K. ATTR Amyloidosis Patients’ Association (UKATPA), a nonprofit organization supported by the consultant physicians of the U.K. National Amyloidosis Centre, also known as the “NAC.”

Vince (pictured left) and David (pictured right) meet every Sunday with Carlos to discuss the latest ATTR research and new ways to create awareness and promote amyloidosis disease education

Launching UKATPA with a Purpose

After attending amyloidosis gatherings for years and meeting fellow ATTR patients, Carlos, an orthopedic surgeon, observed in 2017 that new dedicated treatment options were emerging for a disease that had literally no targeted medicines for most of his life.

“It felt like it was the right time to create UKATPA,” he remembers. “People had the disease, but there had been no treatment. In this moment, I knew the patient’s voice needed to be pushed forward.”

In short order, Carlos recruited David to be the fledgling organization’s secretary and Vince as treasurer. Their mission was clear: Educate, support and empower patients and doctors, while advocating for timely and effective diagnosis and treatment.

“The biggest surprise to us was how many people have amyloidosis and don’t have anyone to talk to,” says David. “They’re alone, and we want to find them.”

“Educating people is our objective,” adds Carlos. “Educating patients is not difficult once you’ve found them. They’re very keen, and it’s very gratifying for us to empower the patient.”

Every Sunday, they meet to discuss the latest ATTR research and new ways to create awareness and promote amyloidosis disease education. Beyond supporting patients, UKATPA has established relationships with stakeholders ranging from genetic counselors to government regulators and biopharmaceutical companies.

Empowering Patients, Yes, But What About Doctors?

Empowering patients is at the core of UKATPA’s work. On their website, patients will find extensive information about amyloidosis, support groups and upcoming community gatherings.

However, Carlos, David and Vince were surprised to learn that another key group needed resources, too: Doctors. “The chances of a general practitioner diagnosing amyloidosis in their career is rare,” says Carlos.

“As soon as you educate doctors, they’re more intentional about finding the cause. If they know there’s a therapy, doctors are more likely to investigate, diagnose and treat the disease.” – Carlos

David adds, “Sometimes we find patients on treatments that weren’t even relevant, just because there are so many other illnesses.”

UKATPA aims to change that by bringing specialists connected to the amyloidosis community, such as neurologists and cardiologists, as well as nurses and other healthcare professionals, together with patients. “What we need to do is build clinicians’ networks and make them more aware,” declares Vince.

Championing Both the Present and Future Amyloidosis Community

Although Carlos, David and Vince are working hard to educate and build resources for the present-day amyloidosis community, they recognize the opportunity at hand to positively impact future generations.

“We worry about this disease not just for ourselves, but also for all the relatives we have,” says Carlos.

“Between my brother, sister and me, we have 16 children and grandchildren, of whom potentially eight will get the disease,” posits David. “It’s not a rare disease in my family; it’s endemic. To me and all patients, it is very challenging that we have passed something on to our families.”

The UK has a reputation for expertise in innovative medicines, which has led to a strong infrastructure for supporting patients with rare diseases like ATTR. “We’re very lucky in this country because we have a routine of approving new drugs to help patients,” cites Vince.

Carlos, David and Vince believe that UKATPA has an important role to play in continuing to bring about change – not only for ATTR, but also for the entire rare disease community.

“Two years ago, this was a disease that had no real treatment. Now, there are several therapies, and potentially, Intellia’s candidate may make the disease history,” David muses.

“We love collaborating and are excited by game-changers, like Intellia,” says Carlos.