Early Diagnosis, Treatment Access, and Self-advocacy Are the Pillars of Hope With ATTR Amyloidosis
It has been very encouraging to witness treatment advancements that target ATTR amyloidosis. Although a cure is not currently available, pharmaceutical research shows promise in the development of drugs to slow the progression of amyloid deposits, which causes the disease.
ATTR amyloidosis affects multiple organs in the body, causing a breakdown in the body’s functioning. It’s most threatening when it affects the heart, which can lead to heart failure.
My late husband, Aubrey, was diagnosed with hereditary ATTR amyloidosis in 2013, and he died last May from cardiomyopathy. His heart became too stiff to function, yet at 57 years old, he was too young to lose his life. Had it not been for a liver transplant in 2016 and access to the breakthrough medicine Tegsedi (inotersen) in 2020 that treats nerve damage, I’m confident that our children and I would’ve lost him much earlier.
Having said this, the reality that I no longer have a spouse to cherish and support is difficult to accept. Still, three months into being a widow, I carry with me the hope that a cure will be found. Until then, early diagnosis is vitally important, and the availability of drug access is imperative to ensure longevity and well-being.
As a patient advocate for the disease in New Zealand, the biggest challenge I face is not just limited to finding manufacturers of treatments and making our needs known to them. More significant than that, the country’s medicine approval and funding system needs to be far-reaching and dynamic enough to provide a chance for patients to access treatment.
Before forming our patient association, few in New Zealand knew what ATTR amyloidosis was, except for a limited number of clinicians. Those who were diagnosed had to conduct their own search for information, including prognosis, which was not ideal, considering the disease’s bleak outlook.
We went through the same scenario in the early days of Aubrey’s diagnosis. Left to our own devices, we had no choice but to learn on our own and discover by ourselves. This was in 2013. Fast-forward to today, and there have been advancements in the treatment and information landscape. It’s easier now to remain positive, as long as a patient is willing to go the extra mile in advocating for themselves.
With a rare condition like amyloidosis, pushing for awareness is key to receiving access to treatment. I know how frightening and brutal it is to be your own spokesperson. My husband had countless meetings in which doctors discounted his thoughts and opinions. We often walked away feeling let down by the healthcare system here.
I’m here to tell you that it is all right to feel that way, but don’t give up. Use that discouragement and turn it into steel confidence. Know that your life is as important as the next person’s. Having an obscure condition doesn’t make you less of a human being. Know that you will meet healthcare practitioners who will go the extra mile for you. You just need to try to stay positive and hopeful.
Note: FAP News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of FAP News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to familial amyloid polyneuropathy.
About the Author
Comments