For years we’ve been trying to find an answer why Sam has been declining. We’ve thought if we ever do find an answer she will probably be 1 of 4 people in the world with the same diagnosis. Well, Sam makes it 5. There are 4 others around the globe that have the same genetic variant that was found with the testing we did in November. It’s so rare it doesn’t even have a name yet. What we do know is it’s a biallelic loss‐of‐function variant. What does that mean? I’ve read about it over and over, googled so many terms that it’s interesting and depressing at the same time. It’s a strange time to be reading about mRNA. Who knew reading (and loving) The Immortal Life of Henrietta Lacks would come in handy? HeLa cell lines, I know what those are! Then reading about cell line deterioration with this particular variant (another term in everyday use these days) is what we assumed but, ugh. Does any of this help Sam. No. There is nothing to help make her better. We’re at the treat the symptoms that are making her very uncomfortable stage.
Not much else going on here. Our days together are still me waiting on Sam all damn day. She’s now been home for 11 months. I know we’ve all been home. Sam’s level of home is different. She hasn’t seen her friends in 11 months and I’m now at the point where I don’t think she will ever again. It’s different when you age out of a public school. She can’t put a mask on by herself so she can’t go to her adult day program.
She has been enjoying watching the waves at the beach. We’re very lucky to not be where her brothers are currently. One hasn’t had temps above freezing in weeks and the other sent me pictures of himself skiing on campus.
It may be time to do something stupid and fly the kid across the country again to get some Disney days.
Cheers.
Nancy
25 years of raising and caring for a perpetual 2 year old 