Marian McGlocklin looks and acts like a typical 2-year-old. But this brave and adorable toddler is fighting Niemann-Pick disease type c: a rare and deadly genetic disease that affects only 1 in 150,000 children.
Sometimes referred to as the childhood Alzheimer’s disease, the condition causes dementia and loss of the ability to move, speak, eat, or breathe. Niemann-Pick type c causes a buildup of cholesterol and other material in the cells, which eventually becomes toxic and destroys the cells.
Marian’s mom, Sara, first noticed a decline in her daughter’s health at 6 months old — when she began having trouble swallowing. After extensive testing, doctors discovered that her spleen and liver were also enlarged.
Fortunately, Marian is now part of an experimental treatment program at Children’s Hospital in Los Angeles. Dr. Albaro Serrano oversees her care and says that the treatment kills the fat accumulating in her cells.
Little Marian is put under anesthesia and receives the medication through her spine. She is currently the youngest child in the country receiving this treatment.
Sara says they have already seen a major improvement in her daughter. Whereas she once struggled to take a single step, she now walks across the room. However, Sara also stresses that the treatment is not a cure, and her daughter will have to receive it every two weeks for the rest of her life.