According to a story from Spectrum News, the Andrews family has been dealing with a rare disease called Niemann-Pick disease type C for years. Parents Pam and Chris knew early on that something was off about their daughter Belle, but it took until the girl was six years old for them to get the fateful diagnosis. The devastating blow doubled in intensity when their 18 month old daughter Abby also tested positive soon after. Now, they face new challenges as they attempt to adjust to life in the coronavirus/COVID-19 pandemic.
About Niemann-Pick Disease Type C
Niemann-Pick disease type C is a form of lysosomal storage disease which is characterized by a deficiency not of an enzyme, but most typically in a type of transporter protein that prevents water soluble molecules from moving within a cell. It is caused by mutations of either the NPC1 or NPC2 gene. There is broad disparity in the severity and presentation of symptoms in Niemann-Pick disease type C, making symptoms an unreliable method for diagnosis. They may appear in childhood or as late as a patient’s sixth decade of life. Such symptoms include spleen and/or liver enlargement, jaundice, severe depression, ataxia, epilepsy, difficulty speaking and swallowing, dystonia, poor muscle tone, bipolar disorder, microcephaly, progressive loss of hearing, progressive dementia, and psychosis. Most treatment is supportive, but there are some medicines that can delay disease progression and prolong life. Lifespan is connected to the onset of symptoms, with those with the earliest symptoms usually dying sooner. To learn more about Niemann-Pick disease type C, click here.
The Andrews’ Story
Chris and Pam were left with the knowledge that their daughters would most likely not survive to adulthood unless a disease modifying treatment became available. The loving parents soon took action and established the Firefly Fund, which is focused on raising awareness and money to help support research related to rare, progressive, neurodegenerative genetic disorders. Learn more about the organization here.
Belle and Abby have since been entered into a clinical trial with an experimental drug that seems to be working. Abby especially appears to have seen much less disease progression at her age when compared to Belle, which is a testament to the value of early intervention in genetic disorders like Niemann-Pick disease type C. However, the family faces a new challenge in the form of coronavirus/COVID-19. The girls, especially Belle, are at heightened risk of severe infection because of the effects of Niemann-Pick on the respiratory system.
At this juncture, the Andrews have isolated themselves as much as possible and basically only leave for essential trips like their visits for treatment. With all the uncertainty that hangs over the world, the Andrews are more thankful than ever for the health professionals on the front lines:
“We have an enormous amount of gratitude to for those nurses and doctors that did show up. That really brings home the dedication and the love that these people have for for treating others.” – Chris Andrews