Alzheimer's Disease is something we usually associate with the elderly, but 18-month old Marian McGlocklin is proof that the cruel condition doesn't always choose those who have already lived a rich and full life.
The US toddler has a rare metabolic disorder called Niemann-Pick disease type C (NPC1). It's also known as childhood Alzheimer's.
Since learning of her diagnosis, Marian's family has been fighting for her life and trying to help find a cure. Now they have set up a GoFundMe page with the aim of raising almost $200,000 so they can do just that.
In the first month they have raised an extraordinary $72,000, but they still have a long way to go to reach their goal.
"When Marian was born we knew there was something slightly unexpected, her legs were so thin, her cry a little quiet," says Marian's mother Sara on her GoFundMe page. "But never did we imagine she was showing early symptoms of a progressive, fatal condition."
"We are asking for your help to save our sweet baby. Marian, an adored little sister to 4-year-old Emily, is bursting at the seams with love and life.
"She lights up dancing to Row Row Your Boat. She says 'tank you' and 'boun boun' with a huge grin while bouncing herself on the couch.
"However, with much devastation, last week we learned she also is in a fight for her life against a fatal, progressive, neurodegenerative storage disorder. She is only 18-months-old."
NPC1 stops cells from processing and disposing of cholesterol. This results in a harmful accumulation throughout the body, causing enlarged organs, lung damage, and slow and steady neurological deterioration – this is what causes the dementia.
Only 500 children across the world have been diagnosed with NPC1. Tragically, only half of those children will see their tenth birthday without intervention. And the dementia means these children won't be able to recognise their parents, and eventually will lose their ability to eat, speak, move, or even breathe.
The McGlocklin family are hopeful a cure can be found and Marian won't have to suffer this fate.
When the family received their diagnosis in February, they were told it was fatal. Shocked and broken-hearted, they reached out to other families suffering with NPC1 and quickly learned there was hope, in the shape of a clinical trial of drug cyclodextrin.
Cyclodextrin is a sugar compound found in fat-free dressing and margarine, and it's also what could save Marian's life. Early trials have found it can stabilise children in decline, halting the progression of their illness – something that was thought impossible just a few years ago.
Children caught early such as Marian are thought to thrive with regular cyclodextrin doses. The treatment is administered through a spinal tap, and has to be given every two weeks indefinitely to be effective. Approval for the treatment is pending in California, where the McGlocklin family lives, so they have committed to flying to Chicago every two weeks for the treatment until it is approved locally.
Gene therapy, which has been tested on mice, has also been encouraging in the search for a more permanent cure for NPC1, but the McGlocklin family are in a race against time to halt the progress of the disease and find a cure before it can cause irreversible degeneration in Marian's cells.
"From the bottom of our hearts we also hope you will join us as advocates for NPC and help spread awareness," says Sara. "Please share Marian's story on social media with your friends and networks to help us build awareness and support ... using the hashtag #hopeformarian"
You can donate or learn more about NPC1 on Marian's GoFundMe page.