Each Seed is a Hope
Like dandelion seeds carried by the wind to distant places, every life deserves to be seen, and every hope has the potential to take root in unexpected places.
Understanding Niemann-Pick Disease
What is Niemann-Pick Disease?
Niemann-Pick disease (NPD) is a rare genetic disorder that disrupts the body's ability to process and transport lipids, leading to harmful buildup in organs like the brain, liver, and spleen. This buildup causes progressive organ damage, affecting motor skills, cognitive function, and overall health.
Niemann-Pick Type C (NPC)
Niemann-Pick Type C (NPC) is a particularly rare, progressive, and fatal variant, often referred to as "childhood Alzheimer's." This disease gradually damages the nervous system and severely impacts the patient's quality of life.
Understanding Niemann-Pick Disease
What is Niemann-Pick Disease?
Niemann-Pick disease (NPD) is a rare genetic disorder that disrupts the body's ability to process and transport lipids, leading to harmful buildup in organs like the brain, liver, and spleen. This buildup causes progressive organ damage, affecting motor skills, cognitive function, and overall health.
Niemann-Pick Type C (NPC)
Niemann-Pick Type C (NPC) is a particularly rare, progressive, and fatal variant, often referred to as "childhood Alzheimer's." This disease gradually damages the nervous system and severely impacts the patient's quality of life.
Symptoms
Niemann-Pick disease presents with various symptoms, typically including:
Early symptoms:
- Enlarged liver and spleen
- Jaundice
Progressive symptoms:
As the disease develops, neurological symptoms gradually appear:
- Developmental delays (speech and motor skills)
- Coordination problems
- Seizures
- Dystonia
- Abnormal eye movements
About NPUK
Niemann-Pick UK (NPUK) is a charitable organisation dedicated to making a positive difference to the lives of those affected by Niemann-Pick disease. We raise much needed awareness, provide practical and emotional support, advice and information and facilitate research into potential therapies.
We are a small charity with less than five hundred members, the work we do is funded entirely through fundraising activities and successful grant applications. Our strength, therefore, comes from the dedication of our much valued families, members, benefactors and volunteers who work with tremendous effort and loyalty in support of the charity.
About NPUK
Niemann-Pick UK (NPUK) is a charitable organisation dedicated to making a positive difference to the lives of those affected by Niemann-Pick disease. We raise much needed awareness, provide practical and emotional support, advice and information and facilitate research into potential therapies.
We are a small charity with less than five hundred members, the work we do is funded entirely through fundraising activities and successful grant applications. Our strength, therefore, comes from the dedication of our much valued families, members, benefactors and volunteers who work with tremendous effort and loyalty in support of the charity.
DaRev x
Scientific breakthroughs are built on shared knowledge. Through data sharing, we can accelerate drug development for rare diseases like Niemann-Pick. Join Darev in making this vision a reality.
DaRev x
Scientific breakthroughs are built on shared knowledge. Through data sharing, we can accelerate drug development for rare diseases like Niemann-Pick. Join Darev in making this vision a reality.