I haven’t blogged about this topic because I felt it was inappropriate until I knew more. For those following my Japan blog, that will come later, but the real world marches on.
A couple of months ago, I had a conversation with a senior professor in the UK. He graciously gave his time and asked whether I had been tested for the NPC gene.
It turns out that Niemann-Pick Disease is a very rare genetic disorder, found in 1:250,000 people (as opposed to PSP, which is present in 6:100,000—making NPC roughly 25 times rarer).
It is not a pleasant disease (understatement), has a significantly reduced life expectancy, and presents similar symptoms in its adult form (NPC-C), including eye and balance issues.
Its obvious downside is that it’s genetic, but its significant upside is that a new treatment is potentially available, which seems to slow progression.
In a world of simply awful choices, one summary stated: “PSP is worse due to its rapid progression, severe symptoms, shorter survival, and lack of effective treatments, compared to NPC-C’s slower, later-onset course and slight treatment benefits.”
I received confirmation last night that it is not NPC after genetic analysis.
As I sit here on the bullet train to Hiroshima (Japan is amazing, and I’m so pleased I came, but that’s for another blog), it feels a bit like comparing atomic and biological weapons. Both are simply terrible.
It’s amazing what “Hail Marys” start to excite a person, but I did harbor a hope for a few weeks that maybe it wasn’t PSP after all.
I’m not sure how I feel. I hadn’t gotten my hopes up much, but it was comforting to think other options were out there, especially as it seems less and less like typical Parkinson’s.
I still pray for the same things as before, as the outcome hasn’t changed that.
My son will wake up soon, and we’ll arrive in Hiroshima shortly!
