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How does NPC occur?
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 properly, causing the body's inability to transport cholesterol and lipids inside the cells.
Because carriers are symptom-free, parents usually don't know their child is at risk. Should both parents carry a fault gene, there is a 1 in 4 chance their child will suffer from NPC.
What does an NPC diagnosis look like?
Without medicine, half of NPC patients won't live to see age 10; some won't live to see the age of 5.
The age of onset symptoms varies widely. Signs can appear from birth to adulthood. Generally, the earlier neurological signs appear, the faster the disease progresses, which compromises quality of life and leads to death.
Months or years after an enlarged spleen and/or liver 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.
If left untreated, loss of short term memory will begin and will lead to learning delays—children and adults lose the ability to read and write. Patients can forget when they've eaten and where they are.
DEMENTIA OFTEN FOLLOWS. Speech becomes slurred and slips away over time. Hearing loss develops and worsens, and the child's ability to control eye movement fails. Seizures often develop, some so frequent they run together—for days on end.
Ultimately, people with NPC endure years of suffering as their bodies, mobility, speech, and memory fails them, despite everything they are doing to hold on.
An example of childhood onwards onset
Cognition
FROM
Having age-appropriate cognitive skills
TO
Developmental delay or struggling in school, then not being able to learn new skills, and finally being placed in a special program or need to leave a job
Ambulation
FROM
Walking and playing sports
TO
Having an awkward gait or falling for no apparent reason, to using a walker, and finally a wheelchair
Speech
FROM
Having typical conversations with people
TO
Having slurred speech and difficulty retrieving words, to only being able to respond with short answers, and finally losing speech completely
Fine Motor Skills
FROM
Using their hands for everything with ease
TO
Dropping a few things due to tremors, tostruggling with every-day tasks, and finallynot being able to use their hands at all
Swallow
FROM
Eating or drinking anything
TO
Eliminating foods that cause choking and adding thickener to liquids, and finally needing a feeding tube