A toddler with a rare disease that causes childhood Alzheimer’s has forgotten her first words after learning “hi” and “bye” only months ago.
Marian McGlocklin from California was diagnosed with the heartbreaking condition Niemann-Pick Type C (NPC) disease – also referred to as ‘Childhood Alzheimer’s’ – in March this year. She was just 18 months old.
Her parents Sara, 34, and Paul, 33, received the news after months of testing and doctors appointments and more testing and research. No one could tell them why their youngest daughter wasn’t reaching her milestones. Marian has a four-year-old sister Emily.
“Time stood still when Marian was diagnosed with NPC. Fatal. After the call we were in shock and brokenhearted,” Sara McGlocklin wrote on a GoFundMe page called ‘Hope for Marian’.
“When Marian was born we knew there was something slightly unexpected, her legs was so thin and she felt so delicate. But never did we imagine she was showing early symptoms of a progressive, fatal condition.”
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It’s estimated there are between 1,000 and 2,000 cases of NPC worldwide.
The disease prevents cells from metabolising cholesterol, causing the substance to accumulate in the spleen, liver and brain. Over time, the organs enlarge and dementia sets in. Children lose the ability to move, eat, speak and breathe.
Half of all children diagnosed with NPC will die before their tenth birthday without intervention. With this knowledge, intervention is exactly what Sara and Paul went looking for.
“We began blindly reaching out to other NPC families and quickly learned, this is not a death sentence and there is hope to save Marian’s life. We heard the same thing on every call: get Marian on a highly effective clinical trial drug cyclodextrin as soon as possible. Every day counts.”