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Real Patients Speak

MS on Anne Marie
Anne Marie: This disease can be quite isolating because you don’t know anyone else that does have the disease, when you have it at first. Never heard of amyloidosis before in my life. It was all Greek to me.
B-roll     VO: In 2011, Anne Marie Carr was 53 years old when her body started giving her signals that all was not well.

MS on Anne Marie
Anne Marie: Thinking back, the first thing I noticed, I was out the one afternoon and I think there was maybe 6 or 7 steps I climbed. All of a sudden, I felt as though I was going to pass out. It came on suddenly. There was no pre-warning to this, and I thought that’s strange.
B-roll   VO: From there, her symptoms progressed to weight loss, diarrhea, heart palpitations and tingling and pain in the hands and feet, often mistaken for Carpal Tunnel Syndrome.
 
Dr. Vera Bril is part of her healthcare team.
MS on Dr. Bril
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Dr. Vera Bril
Professor of Neurology, University of Toronto
Director, Neurology, UHN and Sinai Health Systems
Dr. Bril: Well, Hereditary Amyloidosis is a very rare disorder.
Neuromuscular Expert
 
Anne Marie has no known relatives, however, her mother suffered from fainting spells and and passed in her 50’s from cardiac issues which are symptomatic of hATTR.
 
Amyloid is an abnormal protein. The build-up of amyloid proteins (deposits) can make it difficult for the the organs (such as the heart) and tissues to work properly.
It’s a genetic disorder where the gene is autosomal dominant, meaning it’s passed from parent to child at a 50% rate. And most people who get the gene have the disease or develop the disease.
 
 
 
So, in the peripheral nerves, you have deposition of amyloid and that leads to loss of activity. It’s affecting mainly the small fibers, but sometimes the larger ones. So you get pain, numbness, tingling, unsteadiness. But you also get Carpal Tunnel, as I’ve said, and you get fainting spells because of the nerves that go to those organs.
MS on Anne Marie Anne Marie: Yeah, I felt as if though the symptoms were connected, even though we couldn’t find a common theme for them and a common illness that they fell into.
 
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Michelle Mezei, MDCM, FRCPC
Academic Director, Neuromuscular Diseases Unit
Vancouver General Hospital
Michelle Soundbite #1: Making a diagnosis of hATTR has a significant impact on the patient and their family, as it is one of the most serious types of inherited peripheral neuropathies. In most cases, it progresses quickly to severe disability and death within 5 to 10 years of the diagnosis.
B-roll VO: Anne Marie’s diagnosis was confirmed by a heart biopsy at the age of 56.
MS on Anne Marie Anne-Marie: The impact on the family has been quite devastating, especially for my husband and son. One of the hardest things I found initially was dealing with the idea that I wouldn’t be able to see my granddaughter, perhaps, graduating from high school.
B-roll VO: Historically, there have been treatments for familial amyloidosis, which have limitations. Anne Marie was considered for a liver transplant, but turned down as she may not survive the anesthesia. Yet…there is hope on the horizon for these patients.
MS on Dr. Bril Dr. Bril: We have broadened our testing here, because we’ve become aware of the new treatments, and you know, the new interventions that we can offer. We have to educate physicians in general, who see neuropathy patients to be more prone to testing, more open to testing for these rare diseases, which they will not think of immediately. So if someone presents with a painful neuropathy story, it may be very rational to test for amyloid, if you have a small fiber neuropathy.
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Angela Genge, M.D., FRCPC
Executive Director of the CLRU, Montreal Neurological Institute
Angela Sounbite #1: This matters because of the new therapies that are being developed. There is currently an avalanche of new therapies in rare, neurologic disease occurring in the world, including Canada. This is the beginning of a revolution in therapy. Patients who have never had therapies for their diseases, now have the opportunity to be treated, and in some cases cured of the symptoms of the disease they carry.
 
B-rollVO: Anne Marie is anticipating commencement of new therapy and remains hopeful but not without issues surrounding.
MS on Anne Marie Anne Marie: The doctors have said that there’s a very good chance that it will stop further deterioration. And in some cases, some people have reported, but we don’t have sufficient data at the moment, that some people have reported that their symptoms have got better. The costs are extremely high in terms of the treatments that are out there. For most of us, I guess that we can’t afford them.
MichelleMichelle: It certainly is an exciting time now, with the recent positive clinical trials showing degrees of slowing down, or even improving aspects of hATTR, peripheral nerve and cardiac disease. The challenge will be finding out which patients will benefit the most, when to start treatment, and of course, the cost of these novel therapies.
B-rollVO: Andre Araujo is 27 years old, married with a young baby boy. He tested positive for the hATTR gene mutation 3 years ago. He had previously watched his father struggle with the debilitating symptoms of this disease.
AndreAndre Soundbite #1: Having a rare disease sometimes makes you feel like you are in the dark when it comes to treatment options and support. My hope for the future is that hATTR patients are treated with the utmost care. That specialists will be knowledgeable about the disease and that more treatment options are not only available but also accessible to patients.
MS on Anne Marie
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Anne Marie is finalizing an online patient support group to assist patients through diagnosis to treatment and beyond
Anne Marie: I think it’s very important for patients to be given access to treatments. And I think it’s very important to look outside and find a community that works for you…you know an amyloidosis support group cause then that way you feel as if you’re not on your own. Change your world, change your perspective a little bit.
MS on Dr. BrilDr. Bril: This is a totally exciting time for patients with familial amyloidosis because there are novel treatments that have proven very effective and offer promise for a better life for these patients.
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Real Patients Speak
 
VO: To learn more about familial amyloidosis, please speak with your healthcare professional or visit the website(s) below.