And now, it's time. I have had this blog on my mind for a couple of weeks now. And it's already written... until I sit down to write it, that is. It's almost as though I'm 'coming clean' about something, but that's not it at all. Writing it down just makes it all so very real, and that is the last thing I want this to be.
But it is.
And so... Quinn Madeleine Linzer, our amazing, wonderful baby girl has Niemann-Pick Disease, Type A.
What's that?! Yeah - kind of our question too.
Niemann-Pick Disease Type A (NPA) is an extremely rare genetic neurodegenerative disease. The science of it is that Quinn currently produces less than 1% (0.5% to be precise) of the enzyme acid sphingomyelinase (ASM) required to metabolize a lipid (fat) called sphingomyelin. This lipid accumulates within her cells, eventually causing cell death and malfunction of the major organ systems (mainly liver, spleen, lungs and the brain).
The reality of it is that NPA leads to an early death, anywhere from 15months to 3+ years. And before she is gone, she will be taken from us by way of severe developmental retardation and regression.
There is no treatment and there is no cure.
NPA is an extremely rare disease (autosomal recessive) - one that affects 1 in 250,000 children, though in this case the likelihood was more like 1 in 1M or more because I had been screened for this very disease and it came back negative. So there's at least one mutation at play here. That is, a mutation of the mutant gene. Kind of unbelievable - we still can't quite grasp it.
There is a brochure put out by the National Niemann-Pick Foundation (NNPDF) that puts it very succinctly:
"They only have their childhood to live a lifetime."
And that's what we're going to do. Give Quinn a lifetime, as best we can.
Party of Five we will forever remain, even if only in spirit.