Despite doctors insisting Marian McGlocklin was a healthy baby girl, her parents Sara and Paul knew there was something very wrong.
“A lot of times the approach is, ‘let’s wait and see,’ but I felt in my gut there was something happening, so we were pushing,” Sarah recently said in an interview with KTLA 5.
They weren’t wrong about their gut feeling.
After connecting with a “an amazing team at Children’s Hospital Los Angeles,” Marian – at 18 months – was diagnosed with the fatal metabolic condition Niemann Pick Type C (NPC), sometimes called childhood Alzheimer’s, which is always fatal.
The mom was at home with her two daughters when she got the call from a doctor, explaining her baby girl had a rare condition that would claim her life.
Sara writes, “I could hear my daughters laughing and playing in the next room. My oldest, Emily, who loves her sister fiercely, and then, Marian, who was giggling while I was learning she wouldn’t be growing up at all.”
The National Library of Medicine describes NPC as “an ultra-rare, progressive neurodegenerative disease with approximately [one] per million people in the United States.”
Babies born with NPC initially seem healthy and develop normally for variable periods of time, “and then something changes.”
As the disease progresses, subtle symptoms like clumsiness and minor developmental delays become more severe, including loss of muscle strength, choking, tremors and seizures.
“The light came on in her. She went from being an observer of life to participating,” said Sara, adding that the drug will not halt the disease’s progression forever.
“To have hope and to have something that we can grab on to, it was a lifeline for us,” Marian’s dad said of the experimental drug, that according to Sara’s Facebook will be available on trial until at least 2025.
Marian’s dreams and wishes
Sharing Marian’s journey on social media, Sara writes in February 2022, “Marian told me when she grows up she’s going to live in Paris with her family and be an artist…Her dreams for herself don’t see her life end at age ten or fifteen. They don’t involve going backwards. Only forward. It’s Paris.”
