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Sue’s Story: Igniting Discussions With Your Doctors

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Speaker 1: Hereditary ATTR amyloidosis, or hATTR amyloidosis, is a rare genetic condition what affects an estimated 50,000 individuals worldwide. In this video, we will hear from Sue, whose family has been living with the disease for many years. To better understand the physical and psychological effects hATTR amyloidosis can have, we will also hear Doctor Kathryn Rozanski, who treats patients with hATTR amyloidosis.

Dr Rozanski: Hi Sue. My name is Doctor Kathryn Rozanski. At my institution, we treat a number of patients with hATTR amyloidosis, and I know the effects can be devastating on patients and families. Can you tell me a little bit about how hATTR amyloidosis affected your family?

Sue: For my family, it's been catastrophic. It's been all encompassing. It's really hard to find words for it. Before the diagnosis, our life felt really carefree. As young adults and children, we had our ups and downs just like any family has, and crises, but time heals those wounds. After diagnosis, it just seems like time is our enemy.

Dr Rozanski: So who was the first person in your family who was actually diagnosed with hATTR amyloidosis?

Sue: My Uncle Bill was the first one in the early 90s. He began with severe fatigue, chest pains, pains in his legs, and severe weight loss, within a matter of six months to a year. He went to several physicians, including cardiologists, internists, neurologists, and he couldn't find an answer.

Sue: After almost five years of going to doctors, he did finally find one that diagnosed him, and our family has been grateful to him ever since because the rest of us have not had to go through that, trying to find the diagnosis.

Dr Rozanski: Since your uncle's diagnosis, how many family members have been also diagnosed with the gene mutation?

Sue: All of them actually in my mother's generation, and mine, except me. I am still not symptomatic as yet, and our children, who are, most of them are in their 30s and 40s, have not shown signs except there has been carpal tunnel, dry eye, that sort of thing, but not severe symptoms.

Dr Rozanski: Similar to your uncle's experience, a lot of patients go through various specialists, and diagnoses are often delayed, and a lot of the times, they get misdiagnosed because it's such a variable presentation of the disease.

Dr Rozanski: There are some red flag symptoms that may alert a physician that this may be hATTR, including autonomic dysfunction, polyneuropathy, cardiomyopathy, gastrointestinal symptoms, early carpal tunnel syndrome, and of course, a strong family history may lead one to consider it as a diagnosis. Ah, what symptoms has your family experienced?

Sue: My family has experienced several issues and symptoms, starting with carpal tunnel, dry eye, and, later, the severe, more severe symptoms were gastrointestinal with severe weight loss, and, neuropathy, and cardio issues followed after that.

Dr Rozanski: Most patients present either with primarily neurological or cardiac symptoms. It's not uncommon to have both, and gastrointestinal issues, as you mentioned, those are very common, and because amyloidosis can deposit in different organs, you can have, you know, many different manifestations of it. So, what has your family taught you about managing this disease?

Sue: My family has taught me a lot about this disease, and living with this together, and mainly is, this disease does not define me. It does not define them, who they are, and we learn together. We have done a lot of research, and keep up with the latest research advancements for our disease, and partly by going to support groups like Amyloidosis Support Group, and, that's been a great help to us, and our family.

Dr Rozanski: Most patients present either with primarily neurological or cardiac symptoms. It's not uncommon to have both, and gastrointestinal issues, as you mentioned, those are very common, and because amyloidosis can deposit in different organs, you can have, you know, many different manifestations of it. So, what has your family taught you about managing this disease?

Sue: Well, particularly in the last five years, I've learned a lot about this disease, and, I'm less fearful about it, and also a lot more hopeful knowing that there's a lot more healthcare providers out there for families like ours.

Dr Rozanski: So, what do you hope others will learn from your story?

Sue: I hope that others can learn that we do have to advocate for ourselves and our families, and, this will help healthcare professionals learn how to manage our symptoms.

Dr Rozanski: Thank you, Sue, so much for speaking with me today. You're an inspiration to the entire hATTR community, so thank you so much.

Sue: Thank you Doctor.