Learn About Niemann-Pick Type C
Niemann-Pick Type C (NPC) is a fatal genetic disorder mostly affecting children, approximately 1:100,000 births. There is no cure. It's commonly referred to as "Childhood Alzheimer's"
How do you get NPC?
Everyone has two NPC genes that, if working correctly, help cells move and dispose of naturally occurring cholesterol in the body. In most people, both of these genes work properly. In NPC carriers, only one gene works normally. Should both parents unknowingly carry a faulty gene, there is a 1 in 4 chance their child will suffer from NPC.
What happens next?
NPC children can be born with liver damage but are usually born healthy and can be without any symptoms for years. However, as cells aren't able to process enough materials, it gradually builds up, which can enlarge the spleen and/or liver as an early warning sign. As the build up continues, it becomes toxic to the body and brain causing early symptoms, then deterioration, then death.
What will NPC do to children without a cure?
Months or years after an enlarged spleen and/or liver may develop, neurological symptoms unfold as the disease progresses. An active child slowly begins struggling with balance and coordination: falling down progresses to an inability to walk, sit, lift the arms, nod the head, and finally the heartbreak of not being able to move at all. Difficulty in swallowing will follow, leading to choking and feeding tubes, frequent hospitalizations and vulnerability to pneumonia.
Brynne, from California, is 9 and has been recently diagnosed with NPC. She has started treatment but has already lost some skills from NPC. She loves to sing and has a great smile, but she is becoming quieter and more introspective. Brynne's sister Kendall has been diagnosed also.
What is the prognosis?
NPC is always fatal. Without help, half of NPC children won't live to see age 10. The earlier neurological symptoms begin, the more aggressive the disease. Early diagnosis is essential and for the first time investigational treatments can help the body flush and slow the build up in cells. This treatment is a lifeline but not a cure. Without a cure, no child with NPC will survive. However, scientists believe effective treatments and a cure are within reach.
Marian, also from California, is the impetus for establishing Hope for Marian and The No Pucker Challenge. Families like hers are raising money to fund research to find a cure for NPC.
Forgetfulness will begin and will lead to dementia —children forget how to read, how to write, and patients can forget when they've eaten and where they are.
Muscles stiffen and turn the limbs inward, as the brain suffers, movements become disjointed and then impossible
altogether. Speech becomes slurred and slips away over time. Hearing loss develops and worsens, and the child's ability to control eye movements fails. Seizures will then develop, some so frequent they run together—for days on end. Ultimately, NPC children are left trapped in their own bodies, unable to move, swallow, speak, or live.