Raising awareness about rare genetic neurodegenerative disease

February 28th is World Rare Disease Day and it also marks one year since the Firefly Fund was officially started. The Firefly Fund sheds light on the rare genetic neurodegenerative disease Niemann-Pick Type C1 (NPC1). It's a disease that has changed the lives of one Austin family and also given them a mission.

Sister Belle and Abby Andrews are often in their playroom surrounded by sensory objects. The girls spend a lot of time together at home and in doctor offices.

Less than two years ago, both Belle and Abby were diagnosed with NPC1.

Belle was diagnosed after she started showing developmental delays. Learning the disease was genetic, parents Chris and Pam Andrews tested Abby and were crushed again when Abby also tested positive.

Within hours of Belle's diagnosis, Chris and Pam found out about a clinical trial. Both Belle and Abby have been a part of that trial ever since and at this point Abby hasn't shown any symptoms.

Chris and Pam say Belle struggles with her gait and her speech and that Belle is in seven therapies a week. But they are hopeful for the futures of both girls.

The Andrews established the nonprofit Firefly Fund which is working to raise awareness of the disease. The foundation currently funds research at four universities, including the University of Texas.

Chris and Pam re fighting for newborn testing. Chris says their dream is that one day a doctor will deliver this life changing news to parents: "He's going to stand in front of them and he's going to say because of newborn screening your child has Neimann-Pick but it's okay. We have a cure."

"That's the day Pam and I are fighting for. The day Pam and I want to see happen in the near future," Chris adds. "We feel its our responsibility to make a difference not just for our kids but all children."

The Andrews want to see NPC1 added to the federal list of recommended screenings for newborns. 

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