This is a foundation that helps research of Niemann-Pick disease. We are non-profit, and would like your donations
to help find new ways to treat Niemann-Pick disease. We would like your help to raise $500,000 for research.
What it is: Niemann-Pick is a lipid storage disease. in this disease, harmful quantities of lipids accumulate in
the spleen, liver, lungs, bone marrow, and brain.
Symptoms include: lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased
sensitivity to touch, spasticity, eating and swallowing difficulties, cornea clouding, and a cherry red halo appears around
the retina.
Types: There are 4 types of Niemann-Pick disease-
Type A: this type is most common. It occurs in infants. This type includes jaundice, enlarged liver, and
severe brain damage. Infants with type A rarely live past 18 months.
Type B: This Incudes an enlarged liver and spleen, which usually shows up in the preteen years. Type B does not
affect the brain.
Type C and D: These may occur in childhood or adult years. In these cases, enlargement of the spleen and liver
is moderate, but brain damage is severe. It may cause difficulty looking up and down, difficulty walking and swallowing,
and loss of vision and hearing. Type D is usually seen in people of Nova Scotian ancetry.
How it is passed on:
Niemann-Pick is a recessive disease. Both parents must carry the disease for the child to have it. This disease
is autosomal recessive.
Treatment- There is currently no known treatment for Niemann-Pick disease, type-A. For type B, bone marrow transplants
have been attempted, and they had positive outcomes. There is also no known effective treatment for types C and D, but
a low-cholesterol diet is recommended. No type of gene therapy is available to treat Niemann-Pick.
How it is found- Types A and B are detected through blood tests. Types C and D are found by skin biposies.
This is typically done after symptoms begin to show up. The only way to detect a carrier is through DNA tests.
What causes it- This disease is caused when cells in the body lack a certain enzyme called acid sphingomyelinase.
How people with this disease feel- People with Niemann-Pick have failing motor skills, learning difficulties, seizures,
irregular speech, tremors, walking issus, and trouble moving their eyes up and down.
How it appears externally- People with Niemann-Pick look mostly normal, but sometimes they look like they have a physical or
mental handicap.
Some problems associated with Niemann-Pick- learning disabilities, mental retardation, blindness, and deafness.
Physical limits- People with Niemann Pick have walking trouble and difficulty moving their limbs.
Niemann Pick is always fatal.
INFORMATION SOURCES
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