Family Caregiver talks about Hereditary ATTR Amyloidosis (hATTR) [transcript] [audio]

Guest: Angel Male    

Presenter: Neal Howard

Guest Bio: Angel is a caregiver to her family, many of whom have been living for generations with hereditary ATTR (hATTR) amyloidosis, a life-threatening condition that impacts 50,000 worldwide. Although Angel tested negative for the gene mutation that causes hATTR amyloidosis, she remains an advocate for the members of her family living with the condition, including her mother. Angel and her family have partnered with Alnylam Pharmaceuticals to share their personal account, “Living a Rare Life,” to raise awareness of this complex condition and encourage those who may be affected to get a diagnosis and learn more about it.

Segment Overview: Angel, a caregiver and family member featured in a new book “Living a Rare Life” shares about how her family was plagued for years by fatigue, nerve pain and cardiomyopathy, but unable to figure out why – She lost her grandfather and great uncles to the condition – what the diagnosis of hereditary ATTR Amyloidosis meant for her family, and why she wants to raise awareness and educate about the new “Bridge the Gap” initiative and the resources for patients and their families. (www.hATTRbridge.com)

– TRANSCRIPT OF INTERVIEW –

Neal Howard: Welcome to Health Professional Radio. I’m your host Neal Howard, glad that you could join us on the program. Rare diseases affect about 30 million folks here in the United States alone. Now, this equates to about 10% of the U.S. population. Still, due to the obscurity of these diseases, they can take years and years to be accurately diagnosed. Our guest is Angel Male. She’s a caregiver featured in a brand new book, “Living a Rare Life.” I’ll let her tell us all about why she’s here to talk about one rare disease, very rare disease that affected her family. Welcome to the program Angel.

Angel Male: Thank you Neal for having me.

N: Glad that you could take the time. A little bit of background about yourself, what do you do and where do you do it?

A: Well professionally, I’m a Network Engineer, I work at a college. But really, my passion is being a caregiver to my large family who’s been diagnosed with “HATTR Amyloidosis.” They were diagnosed a couple of generations ago when information was scarce and we weren’t able to tap into a lot of resources which is why we really wanted to partner with Alnylam to bring together a book like “Living a Rare Life” so that we could help other families possibly going through the same thing. It affects the TTR protein that is made in the liver and it deposits in nerves and other body organs.

N: And some of the symptoms I do understand are some severe pain, what are some of the others?

A: So my family has been pretty prevalent with tingling, burning and numbness in the hands and feet, heart, trouble standing up, getting dizzy and then pretty much progresses to the inability to walk.

N: You’re the caregiver to a large family. Is everyone in your family affected directly by this disease being a hereditary disease? Or is it something that some are living with and others are maybe waiting to deal with or not?

A: Well that’s actually part of the caregiver aspects. So you have a 50/50 chance of getting the gene that produces this disease and then some people range from very little symptoms to very extreme symptoms. So it’s about managing the family tree, knowing your genealogy, kind of knowing where that gene has progressed throughout our arteries so that we can notify the next generation of who needs to be tested, who’s okay, stuff of that nature.

N: Now you talked about a very little knowledge about the disease when it began to affect you. You lost some family members due to misdiagnosis or just non-diagnosis at all?

A: Yes. My great grandmother have this disease and her dad before him and nobody really knew what it was. So when my grandpa and his brother started getting sick, my uncle Melvin really kind of took up the charge, my great uncle Melvin who bring about, “What is this? Why is our family suffering throughout the generation?” I mean, when asking grandfather when I was young about what was going on, he just said, “That’s what happened in our family and we call it the curse.” Unfortunately my uncle Melvin passed away prior to the official diagnosis coming, but he really spearheaded that effort for our family to put a name to it so we could begin tackling it.

N: What was it that inspired you and I guess your family to be onboard with sharing your story in “Living a Rare Life?”

A: I feel like it’s so important to help others on their journey with HATTR Amyloidosis and their diagnosis. Recently we met a gentleman that have no history or knowledge of HATTR amyloidosis and his family at all. So being able to provide some of these information to people like him that don’t know what’s coming, they don’t know what’s on the horizon. And being able to get that out there for people is a huge passion of mine.

N: Is this something that present until later in life when you’re older or is it something that can present at any time during a person’s life being hereditary?

A: Well it typically presents in my family, you start seeing the side effects about 40, 45. But unfortunately, the gene causes the protein to misfold starting late 20s, early 30s. It just take that long for the MOI to build up in the organs to be in affecting them.

N: Now, you did team up with Alnylam. Talk about your relationship with them and this initiative and resources of patients and their families that you are also involved in?

A: They have been phenomenal lifesavers because communication is so important, I can’t stress that enough. Communication inside our own family, communication outside to our healthcare providers, to other families, no comparison. And Alnylam has really, really given us the opportunity to share that so it’s absolutely wonderful.

N: Now this bridged the gap initiative, what exactly does it entail? I mean, it obviously is some education about this rare condition but what about some support resources? Are those involved in this initiative as well?

A: Absolutely. I mean you can always talk to your local healthcare provider but there’s MOI centers across the United States that have really stepped up and started beginning treatments and trying to manage symptoms for patients.

N: Are you involved in training other family members, not just educating about what’s going on in your family but being able to help other family members as the generations progress?

A: Absolutely. I’m pretty much the first line of defense. I do a lot of mundane stuff like spreadsheeting and stuff like that to track of gene throughout our family so that as the next generation comes up, they can be aware. My mom and her generation are now starting to come down with the symptoms and various stages of progression. So it’s really important for me to make sure my cousins know what to expect, testing options, stuff of that nature.

N: Now, where can we go and learn some more about this condition?

A: Well you can go on the website, hattrbridge.com. You can download our family’s journeys through this process, “Living a Rare Life.” There’s also some other great phenomenal resources out there.

N: That’s some great information. Thank you for joining us today on the program, Angel Male. It’s been a pleasure, thank you so much.

A: Thank you for having me Neal.

N: You’ve been listening to Health Professional Radio. I’m your host, Neal Howard. Transcripts and audio of this program are available at hpr.fm and healthprofessionalradio.com.au.

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