By Jennifer Enright
HAGERSVILLE—To look at Hagersville resident Anne Marie Carr, you might not realize she has a fatal, rare health condition – but that’s something she hopes to change. For Carr, shining a light on the experiences of patients with rare diseases is something of a personal mission.
Every year, she works to raise awareness about amyloidosis, a disease she was diagnosed with in 2015, during Rare Disease Day in late February and throughout Amyloidosis Awareness Month in March. But she also strives to ensure that patients in Canada with a rare disease receive not only a diagnosis, but also timely access to treatment.
Someone without a rare disease – or even with a common one – might wonder why it matters to learn about conditions like this. But Carr is ready with an answer.
She said her story, and those of others with rare diseases, shows how important it is to learn to navigate the healthcare system, advocate for yourself, and not be afraid to get a second opinion. And, unfortunately, the day may come when someone you know might struggle to accept a rare diagnosis.
“It’s good to learn about these things, not just my amyloidosis diagnosis,” said Carr, who has a form of amyloidosis known as TTR amyloidosis. Like many types of the disease, TTR amyloidosis is caused by the buildup of abnormal proteins in organs and tissues of the body and, left untreated, the disease can result in organ failure and can be fatal.
“I have had the privilege of meeting other patients and their families facing the same challenges with other types of rare diseases. The rare disease may be different, however the long journey to diagnosis and access to treatment is far too lengthy,” Carr said, noting that age discrimination is another layer older patients often face.
She worries that older patients’ symptoms are too easily dismissed – too often brushed off with, “Oh, it’s just your age.” According to her, age discrimination is alive and well.
Carr describes herself as determined, and she believes that trait has helped her enormously as a patient.
Looking back, she recalls probably having symptoms as early as 2007: tingling and numbness in her hands and feet, unexplained dizzy spells, carpal tunnel syndrome. But things shifted noticeably in 2011.
“I made a trip to the library and there were a few stairs to go up. As I started to climb, I thought I was going to pass out. It took me half an hour to have the confidence to go home,” she recalled. “I immediately called my GP, and she asked me to come in. She sent me for an ECG; it was normal, except for a small arrhythmia. Nothing to worry about, they said.”
Alarm bells truly began to ring when she started losing weight and dealing with daily bouts of diarrhea and occasional constipation.
Carr visited specialist after specialist searching for answers. It wasn’t until about four and a half years after that day at the library that she finally received a diagnosis.
Her experience, she said, is far from unique. According to a 2025 Ipsos survey prepared for the Canadian Organization for Rare Disorders (CORD), patients reported needing an average of 14 visits with GPs and specialists before getting an accurate diagnosis.
In 2015, when Carr was diagnosed, having TTR amyloidosis felt like a “death sentence.” At the time, there were no treatments available to her, and she was given roughly 18 months to three years to live. Today, thanks to medical advances, she is on a drug that can hopefully slow the disease’s progression and help manage her symptoms.
Her diagnosis also made Carr a statistical rarity. According to CORD, about 1 in 12 Canadians is affected by a rare disorder.
For Carr, that meant having no one to talk to about her condition in the beginning. “People have nowhere to turn. It’s very isolating – you feel like you’re stranded on an island all alone.”
She felt strongly that something needed to be done to help others with TTR amyloidosis, and in 2017 she founded what is now known as TTR Amyloidosis Canada, an organization that offers resources and support to the TTR community.
Today, Carr regularly attends international amyloidosis conferences and works closely with other patient organizations, including CORD, to support people with rare disorders. Since 2022, she has also hosted the Canadian Amyloidosis Summit, an annual event bringing together patients, caregivers, and specialists to discuss all forms of amyloidosis. The next summit will be held from October 23-25, 2026 in Toronto.
It’s a busy schedule, especially since she also juggles regular medical appointments – seeing specialists in Toronto, a neurologist in Hamilton, and a nurse from Simcoe who visits every three months to give her an injection.
She could live closer to a major city to make care easier. But Carr and her husband, Merv, prefer life in Hagersville. They moved here about four and a half years ago and have never looked back. Merv belongs to the local Lions Club, and both enjoy helping out at Lions’ events. And as Carr points out, quality of life matters, whether you have a rare disease, a common condition, or are perfectly healthy.
“Hagersville has a more relaxed atmosphere,” she said warmly. “The people are friendlier. It’s a typical rural small town community.”
Ultimately, Carr believes we urgently need a quicker pathway for patients in Canada with a rare disease to receive not only a diagnosis, but also timely access to treatment.
She asks people to keep sharing this information within their sphere of influence and continually advocating for others who cannot. For more information, please visit the websites for TTR Amyloidosis Canada at madhattr.ca and CORD at raredisorders.ca.
