Jakey's 1st Birthday

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 .

very comprehensive medical overview by Dr. Marc Patterson (Associate Professor of Neurology and Pediatrics ~ Mayo Medical School) entitled 'Niemann- Pick Disease, Type C'  is available online under the auspices of the National Center for Biotechnology Information (NCBI) GeneReviews website.  Also, a more recent and most illuminating description of the genetic/biochemical properties of NPC can be found in the report “The pathogenesis of Niemann-Pick type C disease: a role for autophagy?” by Pacheco and Lieberman (2008) of the University of Michigan.

Some Additional NPD Links:
     Jolynne's Web Site (US)
    Niemann-Pick Disease Group (UK)
    Niemann-Pick Selbsthilfegruppe(Germany)
    View NNPD Memorials


Jacob's Reach

Jacob | Family Background | The Disease

 Jacob's Album | Campaign Supporters   | Jakey's Brothers

Ara Parseghian Medical Research Foundation | National Niemann-Pick Disease Foundation

In Memory