Niemann-Pick disease (NP) is an inherited metabolic disorder in which harmful quantities of a fatty substance accumulate in the spleen, liver, lungs, bone marrow, and, in some patients, the brain. It is an autosomal recessive trait. The clinical designations currently subdivide patients into 4 categories.
In the first, called type A, the children rarely live beyond 18 months. The second group, called type B, is similar to type A, however the brain is not affected, and the patients will therefore live longer. The fatty material that accumulates in types A and B is called sphingomyelin. This lipid is a major component of the membrane of all cells in the body. The metabolic defect in types A and B is insufficient activity of an enzyme called sphingomyelinase that catalyzes the decomposition of sphingomyelin, which arises from normal cell turnover. These two types are found mostly in the Ashkenazi Jewish population, and within that population there is a 1/90 carrier frequency.
The disease NP also includes 2 other variant forms called types C and D. The disorder may appear early in life or its onset may be delayed into the teen years. Both types are characterized by an inability to mobilize cholesterol in the nerve cells in the brain where it accumulates and causes malfunction of these cells. The only difference between these two subtypes is that type D arises in people with a common ancestral background in Nova Scotia.

Jacob is a very loving and bright young little boy - the first child of Miqelle F. DeMeis & Robert G. Dullea. He was born (2/15/97) in Fort Collins which makes him a native Coloradoan - a trait considered a rarity by many in the state. In May of 1998 he was diagnosed with having a rare genetic disease known as Niemann-Pick Type C.

Jacob loves to spend time with his family members who love him dearly (who now reside primarily on the East Coast). Among his favorite interests are learning & playing with his many friends at the St. Mark's Play Group as well as swimming lessons (he really loves to splash!) at the Toddlers Swim Class (both located in Mystic). Jacob is also a VERY BIG FAN of Barney & the Teletubbies. Although his affliction has significantly delayed the development of his motor & verbal skills, Jacob continues to show good progress as a result of his weekly physical & speech therapy lessons.

With your help Jacob, and more children like him, will be able to survive this terrible disorder. The best way to help them is to fund research that will eventually lead to a full cure.