A Sanfilippo Story by Grammy L…
Little Sis
She’s always got her eye on him—whether imitating him, finding a guaranteed laugh for her poop jokes, seeing if he’s going to, as he always does, give her his cookie, or dive in with a hug and kiss and wrestle when he’s having a rough moment. She’s got the heart and strength needed for a special needs sibling. (This is what my daughter-in-law posted about Reagan on her Facebook blog, Oliver’s Tomorrow on June 7th.) 💪💜💪💜
She loves:
…dressing up as Elsa from the movie Frozen, while Big Bro is into Toy Story, Cars, and streaming Paw Patrol and Daniel Tiger on Amazon Prime.
…tutus, especially the ones Magaw (Oliver’s name for “Grandma” for Jen’s Mom and my sister from another mother) sews for her…
…drawing, coloring, painting whether on paper or herself…
…swings…
…animals! (because they like her too)…
…being curious, as in “What happens if I poke this dinosaur’s tail in my nose?”
I observe Reagan growing, thriving, developing, just like Oliver… Until we knew something was not right. I will never ever forget my phone call with Brian in October of 2019 when he tearfully told me Oliver’s diagnosis. His words, “and he doesn’t even know,” still pierce my heart with a wound that will never heal. Our whole family’s world blew up! Sanfilippo Syndrome, a genetic disorder so rare and unheard of before, has now, unfortunately, become a household word. We can deal with rare, but not terminal with no cure on the horizon. Not Oliver, our precious love-love boy whose smile lights up a room, literally!
Reagan has been tested and she is not lacking that single, yes single enzyme necessary to break down long chains of sugar molecules in the brain that, when they accumulate in children’s cells, the cellular machinery cannot work properly. Bottom line… cells die and vital brain tissue is lost. With Sanfilippo Syndrome, Oliver’s little body doesn’t have the necessary enzymes to break down the sugar molecules called heparan sulfate. (curesanfilippofoundation.org)
Reagan will, sadly, surpass Oliver’s cognitive development. But, in the meantime, please find out more about Sanfilippo Syndrome and meet the rest of our “family”dealing with this fatal disorder at https://curesanfilippofoundation.org/
wandering gypsy Laurel 