Hello to the world of the PSEN1 mutation – Arg269his / R269H

I’ve been thinking for the last few months about how I was going to start this blog. I enjoy writing but this subject matter is hard to start off. There’s the statement piece or maybe the introduction, the bit where I start off talking about the reader first before talking about me but towards the end of this first paragraph I seem to have starting something… so it’ll do, right?

If you’ve found this page you’ve either a passing interest in genetics, or in your path through life you’ve bumped into the subject of Early Onset Alzheimer’s Disease, Familial Alzheimer’s Disease (FAD), Directly Inherited Alzheimer’s Disease (DIAD), Autosomal Dominant Alzheimer’s Disease….. (you get the idea by now), PSEN1, PSEN2 and APOE variants / mutations.

So….. hello! I have a variant on the arg269his part of the PSEN1 gene meaning I am ‘all but certain’ to develop early onset Alzheimers disease in the future and at 47 it’s a (sort of) scary place to be right now. I’m one of 200 families in the UK that have this mutation on their PSEN1. I might have three years, 10 years, 20….

Before I go on I really want to emphasise why I’m typing this out and in a such a public way. There’s a lot of resources out there for people in similar situations but I couldn’t find anything where someone was writing about their journey, their personal feelings, frustrations, hopes and fears in a public space like this or at least they weren’t easy to find. When you discover something like this your world becomes incredibly small and you’re forced to face up to things in rapid succession that you otherwise would have many years in which to do so.

I want you to know you aren’t alone and this shitty place that you’re in, once you have some perspective, isn’t so shitty.