Sara and Paul are on a mission to save their daughter Marian, who was born with a rare storage disorder called Niemann-Pick type C (NPC). The disorder is sometimes called "Childhood Alzheimer's," because it can lead to a gradual neurological, cognitive, and physiological decline.
Sara says her daughter was not hitting her milestones after she was born. After a series of tests, it was discovered that she had a storage disorder. The family then sought out the advice from numerous specialists followed by genetic testing where it was discovered that she had NPC. They were told it was fatal and there was no cure and they feared the worst. Sara and Paul then heard about a clinical trial drug that aims to slow the progression of the disease and hopefully extend their daughter's life.
Marian is receiving the clinical trial drug VTS-270, outside of the clinical trial through expanded access and compassionate use. The drug is being used to clear the buildup in her brain and has to be injected in her spinal fluid through a spinal tap every other week. Since beginning the treatment, Marian has been able to remember more words and has begun putting two-word sentences together and she is saying new words each day.
It's really brought her back to life," her mom says.
Sara is well aware that the drug is not a cure and she shares, "As a parent, one of the most painful things is to think that she might miss [the cure] by a couple of years. And that's why we want to do everything we can to help it get here today because she and other kids can be part of the generation to truly survive this disease."
Neurologist Dr. Leigh Ramos-Platt says while there is still not a cure for NPC, she shares that there is research being done to hopefully one day solve this debilitating disease.
Watch the video below to find out the amazing surprises we have for Marian and her family from our friends at Toys"R"Us and Jaanuu. Find out more about Marian and the No Pucker Challenge, the social media campaign to raise awareness and funds to fight NCS, here.