Three people in the state of Indiana live with Niemann-Pick disease type C (NPC), and Audrey Mischler is one of them according to WTHI-TV 10. She was diagnosed very recently, and her family is still processing the news. To help both themselves and others who are touched by NPC, they have shared their journey on their Facebook.
About Niemann-Pick Disease
Niemann-Pick disease is a group of rare and severe lipid storage disorders. It occurs when the body is unable to transfer sphingomyelin, a type of lipid, into the cells, causing them to accumulate in the lysosomes. This disease is divided into three types: A, B, and C. Between these types, severity, onset, and symptoms vary. Types A and B of this disease occur when there are mutations in the SMPD1 gene, which affects the activity of sphingomyelin. Type C is caused by mutations in the NPC1 or NPC2 genes, which are responsible for a protein that transports sphingomyelin. These genes are all inherited in an autosomal recessive pattern. Symptoms of Niemann-Pick disease vary depending on the type and location of the accumulation of sphingomyelin.
The liver and spleen are common places in which sphingomyelin accumulates, and symptoms would be a loss of appetite, an enlarged abdomen, low levels of platelets in the blood, and pain. If the central nervous system is affected, symptoms may be slurred speech, difficulty swallowing, impaired eye movements, and the loss of intellectual abilities. Bones are not as commonly affected, but when they are, people experience sleep-related disorders and enlarged bone marrow cavities. Type C is characterized by neurological abnormalities, like loss of coordination and difficulty speaking. Difficulty in swallowing is also common. Intellectual disabilities worsen over time. Cataplexy and seizures may occur as the disease progresses as well.
Treatment for this disease is dependent on the type, but they are all focused on managing symptoms. Anti-seizure, sleep-inducing, and anti-depression medications may all be prescribed.
Audrey’s Story
10-year-old Audrey Mischler is described as kind and caring by those around her; she constantly wants to bring others joy. Her loved ones were extremely surprised to learn that she has Niemann-Pick disease type C. Jesse, her father, told WTHI-TV 10 that he couldn’t accept it at first, he thought that “there must be some other explanation.”
Learning the rarity of Audrey’s condition was difficult for the Mischler’s as well. There is no cure, very few other patients, and minimal awareness of the condition. In fact, there are only about 500 other NPC patients throughout the world, although medical professionals believe the number should be higher. Many people go undiagnosed or misdiagnosed when it comes to NPC, so the incidence could be lower than the actual number.
Audrey’s family hopes to shed light and raise awareness about this rare condition, as it would allow for more affected individuals to receive the correct diagnosis and treatment. You can help them through their GoFundMe.
Find the source article here.
