The Disease
{First Web Posting ~ June '98 }
Although not widely known by the public and
classified as rare by medical science, Niemann-Pick
Disease (NPD) Type
C (also referred to as NPC) has been the subject of worldwide
medical research for many years
because it is considered an important
link in the battles
against Alzheimer’s, heart disease, stroke & seizure
disorders. Basically, an inherited biochemical deficiency results in
the body’s inability
to metabolize cholesterol properly.
Consequently, cholesterol (and other lipids) begin to accumulate in the liver, the spleen
and the brain - a process which eventually results
in fatal neurological damage. The
pathological effects of this disease
were first noted around the turn of the century but, of
course, its origins go back much further in time. In fact, a closely
related variant of NPC has been traced back to its
originators in Nova Scotia in the mid- 1700’s. With the
discovery
last summer of the primary
gene associated with
NPC medical research has intensified worldwide, and at
least one drug has
been found which delays the onset of
serious effects but it is not
yet ready for
clinical trials. Usually, the initial effects of Niemann-Pick Disease Type C
(deterioration
of motor skills,
slurred speech, etc.) don’t
appear until the early school years (although there is also a young
adulthood onset type). Children seldom survive beyond their 15th
birthday. In
Jacob’s case
the prognosis is more difficult because of the early onset of the disease, but serious
effects could begin in as few as two years. At the
present time Jacob is a
bouncy and happy young little
boy. He is undergoing physical therapy to help maintain and improve his
muscle structure & tone. For
more current information
about
the battle against NPC please visit the
website of the Ara
Parseghian Medical Research Foundation - the Leader
in supporting medical research to find a cure for this disease in collaboration with the University of Notre Dame. Information on all types
of NPD can be found at the National Niemann-Pick Disease
Foundation’s website.
Message from Ara Parseghian
Message from Cindy Parseghian
International Niemann-Pick C Conference
(Click Here)
In the medical research field, Niemann-Pick Disease is associated with a large group of genetic disorders known as Lysosomal Storage Diseases. These 'Allied Diseases', which presently number over 40, afflict many thousands of individuals throughout the world. An excellent source of information about these diseases can be found at the Wikipedia Website .
Some Additional NPD Links: