Niemann-Pick Disease
Chances are you haven’t heard much about Niemann-Pick disease. It’s a rare disease, but maybe not as rare as we think as it is difficult to diagnose - National Niemann-Pick disease Foundation
image by: National Niemann-Pick Disease Foundation Inc
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Life on the Line
I sometimes would sit at night looking at charts for NPC. There's a white line for pre-neurological symptoms, a grey line for neurological symptoms and sometimes a blue line for attempted interventions. Sometimes these lines are long, usually when there's no symptoms until kids are seven are eight. Marian is still only one years old, she doesn't have typical neurological symptoms but does have developmental delays - which means it's been in her brain somewhere already. Warning signs. The kids with lines in that category of early neurological signs are very short. They stop around age two, three or four. Sometimes six or seven. They stop abruptly leaving only empty space. These short color…
Resources
When the Illness Is a Mystery, Patients Turn to These Detectives
The Undiagnosed Diseases Network takes on the toughest cases, patients whose symptoms have defied explanation.
Hope for families of children with 'childhood Alzheimer's'
There is currently no cure for NPC. Half of children die by age 10 and the majority will die before age 20. A late onset of symptoms can lead to a longer life span, but it is extremely rare for any person with NPC to reach age 40.
In Science, Inspiration Can Come From Unlikely Places
A mom reached out to a scientist with a novel idea for an experiment. Years later, her hunch has blossomed into a published scientific study.
One Reporter, Four Families, Six Scientists and the Search to Cure a Rare Disease
The families and scientists involved with Niemann-Pick Type C wanted to create a new way of doing science. Their idea was that families and scientists each had research roles. They talked about finding an NPC treatment, as well as collaborative ways to develop drugs that could be a model.
Will This Girl Be the First Survivor of Childhood Alzheimer’s?
Unless there is a cure, Marian will lose her ability to talk, eat, walk, move, and remember us.
Life on the Line
Over the years, I have spent countless hours looking up charts, data, articles, and research papers. If you added up all of the hours that I have spent doing personal research on NPC, there's no telling how many months worth it'd be.
Fight NPC
Funded by the Brian and Caris Chan Family Foundation and the Liferay Foundation, Fight NPC is an initiative dedicated to empowering families in their struggle against Niemann-Pick Type C. We know it's easy to despair in the face of such an aggressive, deadly disease, but recent medical breakthroughs have given NPC-affected families across the world hope for a better life for their children.
National Niemann-Pick Disease Foundation
We are a non-profit group dedicated to supporting and empowering patients and families affected by Niemann-Pick disease through education, collaboration and research.
Hide and Seek Foundation
Lysosomal diseases are a group of inherited metabolic disorders, most of which are fatal. They are caused by defects in proteins that are critical to the function of lysosomes, which are the organelles within cells responsible for breakdown and recycling of cellular components. When this system is not functioning properly, it leads to accumulation of non-digested material within cells, ultimately leading to dysfunction and even cell death.
Hope For Marian
Our daughter Marian and hundreds of other children are diagnosed with a rare fatal, progressive, disease called NPC. There is hope to save their lives.
Kure 4 Kamryn
Kamryn is a special baby girl. She was born on July 21, 2011. Her smile is contagious and lights up any room. By looking at Kamryn, you wouldn't know that she has a fatal disease, but she does. Kamryn has been diagnosed with Niemann Pick Disease Type C. NPC is an autosomal recessive genetic disease. It cause cholesterol to store in the spleen, liver, bone marrow, and brain. Currently, there is not a cure for NPC, but we are praying that Kamryn will be cured before neurological symptoms set in.
No Pucker Challenge
Hope for Marian created the No Pucker Challenge https://www.nopuckerchallenge.org to find a cure for the always fatal Neimann Pick Type C disorder, known as Childhood Alzheimer's. Help fund lifesaving research by creating your own video of your No Pucker Challenge, and daring 3 friends to do it to!
NP Canada
We are dedicated to finding a CURE for Niemann Pick Disease. The foundation members, volunteer their time to help familes find their way. Know that there is HOPE! There is research being done, there are options available and there is support for you!
Ara Parseghian Medical Research Fund
The Ara Parseghian Medical Research Fund at Notre Dame is a non-profit organization dedicated to funding medical research projects to find a treatment for Niemann-Pick Type C (NPC) disease—a genetic, cholesterol storage disorder that primarily strikes children with death occurring before or during adolescence.
Dana’s Angels Research Trust
DART aims to help all of those (adults and children) suffering from the disease of NPC. Our efforts may also help millions of people suffering from heart disease, strokes, Alzheimer’s disease and other disorders that appear to be related to the metabolism of cholesterol.
Firefly Fund
Our mission is to fund and support the research and education necessary to accelerate a cure for rare neurodegenerative genetic diseases that affect children and currently have no cure. We have begun our journey with a focus on Niemann-Pick Disease Type C.
Race for Adam Foundation
The Race for Adam Foundation is a nonprofit organization whose main goal is to raise awareness and money to find a cure for Niemann Pick Disease. NPC has been likened to the term "Childhood Alzheimer's," however, NPC hasn't officially been identified as such, but it does have very similar symptoms.
SOAR
Support Of Accelerated Research for Niemann-Pick C, or SOAR-NPC, was created by parents and scientists as a grassroots response to the absence of treatments for this terminal disease. The number one goal of SOAR-NPC is to work as quickly as possible to find evidence-based treatments and ultimately a cure for Niemann-Pick Type C disease, a rare neurological illness.
Baby's First Test
If your baby’s newborn screening result for Niemann-Pick disease (NPD) was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition.
Genetics Home Reference
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition. Infants with Niemann-Pick disease type A usually develop an enlarged liver and spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at the expected rate (failure to thrive).
NINDS
There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A. Bone marrow transplantation has been attempted in a few individuals with type B. The development of enzyme replacement and gene therapies might also be helpful for those with type B. Restricting one's diet does not prevent the buildup of lipids in cells and tissues.
NORD
Niemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty substances (lipids) inside of cells. This leads to the abnormal accumulation of these substances within various tissues of the body, including brain tissue.
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