Last year, we had a daughter through PGD (pre-implantation genetic diagnosis). It has been really empowering to have this information. I have come to feel really strongly that that’s not the case. We heard this refrain of “There’s nothing you can do”. In some ways, it was a relief to just know and to think, OK, now we figure out the next thing. We really did start to assimilate within a week or two to the new normal. But the recovery that came after that surprised me. How did you feel, getting the positive diagnosis?Īfter we got the result, it was a crushing moment. I was constantly flipping the coin, flipping the coin. We were waiting for two months after I sent in my sample. The worst time was the time when we were waiting and the worst day was when I found out I was at risk at all. Maybe the coin would flip the right way, but if it was going to be hanging over our head for ever, we might as well find out.Ī lot of people would agonise over that decision, but it seems as though your mind was made up to find out? We were sure we couldn’t go back to a place before we knew I was at risk. That had not been part of the conversation before that and came as such a shock and a blow to us.įor both of Eric and me, it was immediately obvious that I needed to get tested. But it was only after she passed away that we discovered that it had been genetic prion disease. That allowed the family to make a decision to take her off life support. In December we got a preliminary diagnosis of prion disease. Should I be quitting my job and moving home? No idea. If you don’t have a diagnosis, which we didn’t, we didn’t know whether this was something she could recover from or whether it was something she would be like for the next 30 years. And that continued at a rate that was really shocking.

By March she was really severely confused, unable to navigate the world alone and unable to get to the end of a sentence. We’ve since learned that’s just the way this disease is. Over the course of weeks there was a really sudden onset. It all happened really abruptly in 2010 when my mum became ill. We didn’t have a known family history of this disease. When did you first become aware your family was affected by prion disease?

Fatal familial insomnia