Peter Stephens – Hereditary ATTRv Amyloidosis

Hi, my name is Peter Stephens. I was finally diagnosed with hereditary ATTRv Amyloidosis, (Thr80Ala) on 9/9/22. Although I had presented with many symptoms in the previous years, it was actually as a result of my older brother Terry finally having his diagnosis confirmed after years of illness and investigations.

Terry had been diagnosed with prostate cancer around 2013, and after having that treated, he attempted to resume his employment as a hospital nurse. Unfortunately, he had recurring bouts of nausea and vomiting with dizziness and falls at work that gradually made it impossible to retain employment. After ruling out several serious diagnosis’ he was confirmed with ATTR Amyloidosis. Indeed, if Terry had not finally been diagnosed, I wonder if I might still be undiagnosed.

At this point my sister Julie who had become his carer, advised myself and my other siblings Michael and Susan that it was apparently Hereditary, and we would have to be tested. Once I Dr Googled the term, I saw that I had probably 8 out of ten of the symptoms. Although this was bad, at least I finally had answers to why I was declining and feeling so poorly. And also ruled out the ever-present thoughts of Motor Neurone Disease, which my mother had passed from. Further results showed both my brothers to be positive, both sisters are negative, unfortunately so far, my 34-year-old daughter with a toddler and a newborn is positive and my niece with 3 children is also positive. My 35-year-old son with 3 young girls is yet to be tested, and my nephew with 1 son is also yet to be tested. Luckily my oldest daughter is not genetically affected and therefore her 3 girls are safe from this. Terry has subsequently moved to a nursing home where he is receiving Tafamidis but is bedridden. My other brother Michael is currently receiving partisiran and diflusinal and battling on best he can.

Although I had been diagnosed with Adult-Onset Rheumatoid arthritis at age 16 and have had many illnesses and doctors over the years, my Amyloid symptoms as I believe, started when I experienced Atrial Fibrillation in May 2013. This resulted in a PVI ablation in December 2013. Following on I had a torn left bicep in January 2015. I had PVI ablation (2) in June 2016 after ongoing fatigue. Later that year I had a laminectomy due to severe sciatica. This was followed with an operation for Spinal Stenosis December 2017. Next came PVI ablation (3) June 2018. And 2 cardioversions in August 2018. Then it was decided to fuse L3-L5 in October 2019. Returning to the heart I had a single lead pacemaker installed July 2020. Unfortunately, something went wrong in my spine, and I had to have a redo of the spinal fusion in November 2020. Back to the heart I had AV Node ablation in March 2021. Followed with AV Node(2) in April 2021. And AV Node(3) in May 2023. After experiencing loss of feeling in my right-hand pinching fingers and thumb, I had a Carpal tunnel relief procedure in June 2021. This has continued to not have worked. I then had a dual lead pacemaker to replace the original single lead pacemaker in January 2022. All the while no one had considered or mentioned hereditary  ATTRv Amyloidosis, and I was gradually losing muscle tone and weight.

So, during this period of say 9 years, I went from a hands-on Tradie contracting for Building maintenance, to an administration employment for 3 days a week, then down to 2 days a week. Until finally I resigned to hopefully give my body time to regain some wellness. Only weeks later to receive the confirmation of diagnosis on 9^th September 2022. I then retired from the workforce.

I showed the diagnosis to my cardiologist, heart surgeon, gastroenterologist, Rheumatologist and GP, and not one had considered Amyloids and only the Gastroenterologist had actual knowledge of the illness. It was he who nervously told me there was no cure, and that I should accept any Trial drugs offered.