It has been four years since Amaria Granger, now age 14, was diagnosed with a rare disease called Niemann-Pick disease type C (NPC). Since being diagnosed with NPC, Amaria has slowly lost her ability to speak and to walk – but that hasn’t stopped her from forming strong connections with her community.
According to the Pueblo Chieftain, Amaria had a big dream growing up: she wanted to be prom queen. So, as her 14th birthday approached, her mother Mandy and stepfather Phillip put their heads together to think. They decided that they wanted to throw a “prom”-themed party for Amaria. The family began reaching out to their community through social media; they also contacted other families whose children have disabilities, as well as the HopeKids Chapter of Colorado.
Students from Pueblo County High School and Pueblo East High School, including members of sports teams, the student council, and DECA, heard about Amaria’s party and were so excited to get involved. The students even wore prom dresses and outfits! Amaria’s parents brought in a red carpet, DJ, and live music – and eventually, alongside prom king Chase Hart, Amaria was crowned Prom Queen.
Seeing her daughter happy, and seeing how much community support the family had, really inspired Amaria’s mother. She hopes that, in the future, the family can begin holding a yearly prom for those with disabilities.
Niemann-Pick Disease Type C (NPC)
Niemann-Pick disease refers to a group of rare inherited metabolic conditions split into three subtypes: A, B, and C. NPC1 or NPC2 gene mutations cause Niemann-Pick type C (NPC). When these genes mutate, they prevent cells from metabolizing certain types of fat and cholesterol. As a result, these products build up in cells, causing cellular death.
Many NPC diagnoses are perinatal or early infantile, although NPC may also be late-onset. In younger patients, symptoms can (but do not always) include:
- Fetal ascites (abnormal fluid accumulation in the abdomen)
- Abnormal bile flow
- Low muscle tone
- Failure to thrive
- Jaundice (yellowing of the skin, eyes, and mucous membranes)
- Difficulty swallowing or speaking
- Memory loss
- Eye paralysis when moving the eyes vertically
- Enlarged liver or spleen
Those with the late-onset form may also present with neurological symptoms that mimic bipolar disorder.