ATTR Amyloidosis Behind The Mystery
MUSICIt's a rare disease impacting the lives of several thousandAmericans. And while the overall U.S. population effected by itis small, for the families dealing with this condition theimplications are large, indeed. Part 2 of our continuing serieson hereditary ATTR continues. Christopher Cox reports fromBoston. It's rare, debilitating, and it's a fatal disease thatruns in families with no known cure. It's name: Hereditary ATTRAmyloidosis. We're here in
Boston on the banks of thehistoric Charles River to meet with 2 very special women. Womenimpacted by this disease. To hear their stories and theirhopes, and how it's impacting them, their lives, and theirfamilies. The day after I turned 44, I got my feet out of bed andI noticed, as I put my feet on the floor, that my feet began totingle, as if they had fallen asleep, and I thought, oh, thiswill just go away. And throughout the day it did not,and I tried to dismiss it. I did
a lot of walking and I had badshoes, and 3 days later the tingling started in my hands.And I remember calling Christina and we had been talking and Isaid, you know, I think this may have started. And said you'dbetter get to the now. Dawn and Christina knew whatthose symptoms meant. Bloodlines for this disease run deep in thefamily. Very close third cousins represent the fifth generation.Christina's 2 siblings, are also positive for the genemutation. You're both familiar
with the family genealogy chart.Has that graphic been helpful for you both in understandingand communicating the disease? For me, it's it's something Ican also take to the s as proof that this isn't somethingto be dismissed. This is something that occurs everygeneration, and the 5050 chance that this recessive gene playsitself out, just in every generation. And for mepersonally, it seemed like every 10 years someone in our familyis effected, and you know, dies.
And it wasn't until Christina'sside of the family, where it was your dad and your aunt, thatthere was more hope they caught it so early. That there was achance of life and it wasn't a death sentence. So for me, thechart, it's kinda hard to see so many generations effected and somany families and, but yet a little bit hopeful to see thatwithin these generations people are starting to live. There arenew treatment options. Things are happening for us. ATTR is,of course, a familial disease
that afflicts through thegenerations. Patients and their family members become familiarwith the symptoms. And younger patients that experience thedisease are familiar with those symptoms leading to an earlierapproach to s and an earlier diagnosis. Dawn, youtested positive for the disease nearly a decade before symptomsbegan showing up. Tell us about that. The genetic confirmationshows that there might be the luck of the draw. It's a 5050chance of developing the