Marian McGlocklin has a fatal, progressive, neurodegenerative storage disorder called Niemann Pick Type C (NPC1) and her family are doing everything they can to save her.
Trying to raise funds for her treatment, the McGlocklin family described Marian on their Go Fund Me Page as "an adored little sister to 4-year-old Emily, is bursting at the seams with love and life."
What is NPC1?
“NPC1 is a recessive genetic disease where cells cannot process and dispose of cholesterol, resulting in harmful accumulation throughout the body," the page explains.
“This causes enlarged organs, lung damage, and slow and steady neurological deterioration, horrifically causing dementia – leaving children not recognising their mother’s voice, their father’s smile.
“Over time NPC children slowly but completely lose the ability to move, eat, speak or even breathe. However, today there truly is hope this will not be Marian's future.”
Hope lies in treatment
The family’s main source of hope lies in treatment, the drug Cyclodextrin, “a sugar compound found in fat-free dressing and margarine.” The family hopes it will stabilise Marian’s decline.
With a fundraising goal of $150,000, the family hopes to direct some funds towards research that is already underway.
The money will also go towards Marian’s medical bills. In order for the toddler to receive the drug, the family has to travel between California and Chicago every two weeks for a spinal tap to administer the drug.
Speaking to Babble, Mum Sara McGlocklin said: “When I became pregnant with Marian, I felt this overwhelming sense of peacefulness and love, it was the most beautiful feeling.”
“Marian loves to laugh and ‘dance’ to music. She loves ‘Row, Row, Row Your Boat,’ and even though she has mild speech and gross motor delays, she’ll reach out and grab my hands and rock herself back and forth with a big toothless/toothy grin.”
If you would like to make a donation, visit her Go Fund Me Page.
This article first published on Practical Parenting.