It’s hard to find anyone these days who doesn’t know someone suffering from Alzheimer’s disease — what begins as trouble remembering small pieces of information escalates over time, erasing chunks of time and life-long loved ones from a patient’s history.
But what happens when you begin to lose your memory before you make your first memory? That is the tragedy little Marian McGlocklin and her family are facing — Marian, just 18-months-old, has Niemann-Pick Disease Type C, commonly referred to as “Childhood Alzheimer’s.”
To those unfamiliar with these disease, it comes as a shock. Can a child really get Alzheimer’s? While the two diseases are similar, and manifest in dementia and loss of motor skills, the science differs. With Neimann-Pick Type C, a genetic pediatric neurodegenerative disorder, patients are unable to metabolize cholesterol and other lipids, resulting in excessive amounts in the liver, spleen and brain.
There are just 500 reported cases worldwide, though doctors think there are more children out there, undiagnosed. Neimann-Pick is frequently confused for other things, such as learning disabilities and delayed development of fine motor skills, which means there are kids out there — and terrified parents — who just haven’t found answers.
In most cases, neurological symptoms begin between the ages of 4 and 10, which gives Marian some time. And while she hasn’t shown signs of dementia, she has speech and motor delays. These have done little, though, to slow the rambunctious toddler down.
“Marian loves to laugh and ‘dance’ to music,” her mother, Sara McGlocklin, told Babble. “She loves ‘Row, Row, Row Your Boat, [and] she’ll reach out and grab my hands and rock herself back and forth with a big toothy grin.”
No one does a better job of ensuring Marian’s happiness than her big sister, Emily. “Marian loves her big sister Emily and will throw her head back laughing at her,” Sara said. “I’ll often walk into Emily’s room and see the two girls sitting down and playing tea party together or playing beauty parlor together.”
Emily doesn’t know the extent of Marian’s condition, but she’s started selling lemonade to raise funds.
And while Emily’s fundraising is sweet, the amount of bills and uncertainty the McGlockin’s face is anything but. When the family first learned of Marian’s diagnosis, they set up a GoFundMe page in the hopes of raising $150,000 for research — and a cure. In just one month, they’ve reached over $50,000. But the costs keep piling up.
After the McGlocklins decided to fight like hell for Marian’s life, they said they enrolled her in a clinical trial for a drug called Cyclodextrin. Not yet FDA approved, the drug is being tested on its efficacy to slow or stop Alzheimer’s progression. To get the drug, Marian must travel, back and forth, from California to Chicago once every two weeks in order to have a spinal tap, which is how the medication is administered. Part of the GoFundMe money is now being used towards Marian’s travel costs.
Neimann-Pick Disease Type C is, ultimately, fatal. The later children begin showing neurological symptoms, the longer the life expectancy, but patients rarely live past 20 and most die before the age of 10. The worst part is the variation between cases — the McGlocklins just don’t know.
Marian’s family is relying on the world to help, in the hope that learning her story will incite action and funding for those suffering from rare, and often fatal, diseases. “What I keep coming back to is having a disease like NPC is rare, but having a rare disease or someone you love having a rare disease, unfortunately, is not rare,” Sarah told Babble.
If you’d like to help Marian, and other children like her, you can do so by donating to her GoFundMe.
From: Good Housekeeping