Long day’s march to clarity

My father was diagnosed with hattr in the late 70’s and died a couple of years later – at the time I was 12 years old, meaning old enough to understand some things about the disease – in particular the severity and hereditary nature of it. When I was about 20, I decided I wanted to know whether or not I carried the gene and I got tested. When I went to my doctor’s office to learn about the result, he asked me if I really wanted to know, given that I was so young, and that even if I had the gene I might not develop the disease and if I did, there was not much to be done about it (this was back when liver transplant was pretty much the only treatment), and so I decided I didn’t want to know the result of the test. I guess this stuck in the back of my mind for years – I mean, if you’d have had a perfectly healthy 20-year old in front of you, whom you knew didn’t carry the gene and hence would never develop the disease, would you even ask if she really wanted to know the result?

Anyway, years later, in 2017 when I was in my forties, I started experiencing numbness and pain in my heels, and I decided I wanted to learn the result from the test, so they dug it out of the (probably) basement of some hospital archive and lo and behold, I do carry the gene. I had a fat pad biopsy and I had in fact developed the disease, however the feet issues turned out to be “only” heel spurs and ever since they healed I haven’t had any issues/symptoms until now, 4 years later. I’ve been on Tafamidis/Vyndaqel since 2017 and it has worked until now, when I’ve lost a bit of sensation to my feet/experience numbness plus increased faintness.

Getting the diagnosis and learning about this disease was a really rough and intense ride and it took the better part of a year to come to terms with it. Now, I’m so forever happy and grateful that we live in a time when there are treatment options and I’d like to think that I’ll be able to live a full and satisfying life for a long time, seeing my kids grow up and get families of their own. That’s really all that I want.

Long day’s march to clarity – Britta – Sweden