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 has been the subject of worldwide medical research for many years because it is considered an important link in the battles against heart disease, Alzheimer’s, stroke & seizure disorders. Basically, an inherited biochemical deficiency results in the body’s inability to metabolize cholesterol properly. Consequently, cholesterol begins to accumulate in the liver, the spleen and the brain - a process which eventually results in serious 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 NPD-C (known as Type D) 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 NPD-C 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. (Apparently, life as a little mouse does have its advantages). Usually, the 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 15^th birthday. In Jacob’s case the prognosis is more difficult because of his early age, 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 NPD Type C please visit the website of the Ara Parseghian Medical Research Foundation - the Leader in supporting medical research to find a cure for this disease. Information on all types of NPD can be found at the National Niemann-Pick Disease Foundation’s website.

International Niemann-Pick C Conference
(Click Here)

 

Jacob's Reach

Jacob | Family Background | The Disease

 Jacob's Album | Campaign Supporters   | Kiernan

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

In Memory   ~  June '03