My hATTR story began in the mid-1960’s when my father, a healthy, strong, outdoorsy guy in his late 40’s started tripping, experiencing numbness, and having dizzy spells. It took my mom quite some time and frustration to get him to seek medical attention, and once he did the family doctor was stumped. Specialists were consulted, tests were run, and finally, after much trial and error, Dad was diagnosed with amyloidosis in 1967. Doctors at University of Michigan told us that it was incredibly rare and that they had only diagnosed a handful of patients at the time. The disease was affecting his nerves and there was nothing they could do about it.
As the disease progressed, he was unable to feel his feet and could no longer walk. He had lost most of the feeling in his hands but could still grip utensils if they had large handles. He became bed-ridden and moved to a skilled-nursing facility. Eventually he could no longer sit up without passing out. He died on November 22, 1970, at age 54. I was 13 years old.
Fast-forward to 2012. My brother Doug mentioned that he was having shortness of breath when he played basketball, biked, or participated in other activities that were part of his everyday life. His doctor ran some tests and said everything looked fine. Maybe he just needed to slow down a bit. He was 59, healthy and strong. He didn’t accept that he needed to slow down so he sought other opinions. It took a while, but someone finally noticed the amyloidosis in his family history and suggested it might be that. We had no idea that amyloidosis could affect people in ways other than our dad experienced, or that it could be inherited. Wow. Genetic testing was ordered in 2013. He was positive for the mutation.
My sister, Deb, and I then both went for genetic testing. Meanwhile, Doug found that Mayo Clinic in Rochester, Minnesota had a team that studied our disease. He went there for a week of tests and consultations which confirmed hATTR amyloidosis with cardiac involvement. While there was no cure for it, they were having success with liver transplants. By removing the liver that over-produces the TTR protein and replacing it with a normal liver they could slow the progression of the disease. Great news. Scary, but let’s do it. More tests, more consults.
I received a phone call from my genetic counselor on January 10, 2014 – my 38th wedding anniversary. The results were positive. My husband, Alan, and I were vacationing in Florida and had just come in from the pool when we got the news. We were stunned. We sat on our tiny hotel balcony and cried. Then Alan said, “I guess we’ll be calling Mayo when we get home.” I made the call from my office the next Monday. I said, “I’m Doug’s sister and my genetic testing was positive. What should I do?” They said, “Come next week.” We repacked our Florida suitcases to Minnesota attire and off we went. I should mention here that I worked for a company with excellent vacation and sick time policies, and I had accrued time enough to take off without losing any pay. Alan was already retired, so it was a bonus that he could go anywhere with me, at any time.
My first appointment at Mayo was with hematology on January 28th, 2014. I underwent the same tests and consults that Doug had been through. I was so fortunate to have a big brother who shared every bit of information along his journey, because it meant I was never blind-sided or surprised by anything the doctors said! So many times I remember a doctor or technician asking if I had any questions and my response would be, “No, Doug already told me.”