This paper reflects the research and thoughts of a student at the time the paper was written for a course at Bryn Mawr College. Like other materials on Serendip, it is not intended to be "authoritative" but rather to help others further develop their own explorations. Web links were
active as of the time the paper was posted but are not updated.
Hunter's Struggle: The Story of Niemann Pick's Disease
In my sixth grade science class I sat next to a girl named Hunter Ozmer. Being that "K" and "O" are close in the alphabet we ended up sitting near each other in history class and we had lockers near one another. Hunter and I became fast friends. She seemed to be the average 12-year-old girl; we talked about make-up and boys and our favorite band NSYNC. The first time I went over the Hunter's house her mother took me aside and told me that Hunter had a disease called Niemann-Picks and that she was very different from me. At that time I had no idea what she was talking about or how this would come to affect my friendship with Hunter.
The official definition of Niemann-Pick's disease is "a group of inherited metabolic disorders known as the leukodystrophies or lipid storage diseases in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and the brain" (1). What this meant for Hunter is that she would eventually loose of muscle coordination, her brain would begin to deteriorate, and very quickly Hunter and I would no longer function at the same level.
This rare disease is categorized in four types, the most common type being Type A. Type A Niemann- Pick occurs in infants and its symptoms include jaundice, an enlarged liver, and profound brain damage. Children who suffer with this type of Niemann-Pick seldom live past the age of 18 months. An enlarged liver also characterizes Type B but there is no brain damage associated with this type. Symptoms of Type B Niemann-Pick do not typically arise until adolescence. Both types A and B are caused by "insufficient activity of an enzyme called sphingomyelinase" which leads to the build up of toxic proportions of "sphingomyelin, a fatty substance present in every cell of the body" (2)
Hunter suffers from Type C Niemann-Pick, a fraction of this disease that is so rare there are only 500 reported cases worldwide. Type C is very different from Type A and B at the biochemical and genetic level. People afflicted with Type C are unable to "metabolize cholesterol and other lipids properly within the cell" (1). Therefore causing pockets of cholesterol and other lipids to accumulate in the liver, spleen and the brain.
Each person suffering from Type C differs in symptoms experienced, when the symptoms began and the progression of the disease. Hunter's first symptoms appeared around the age of six but did not start progressing rapidly until she reached puberty. In some cases symptoms can appear as early as a few months old or as late as adulthood. "Vertical gaze palsy (the inability to move the eyes up and down), enlarged liver, enlarged spleen, or jaundice in young children" (2) are strong indications of Niemann-Pick Type C. Most times only one or two symptoms occur at the onset of the disease. (2)
In most cases, neurological symptoms begin appearing between the ages of 4 and 10. Generally, the later neurological symptoms begin, the slower the progression of the disease. Type C is always fatal. The vast majority of children die before age 20 (and many die before the age of 10). Late onset of symptoms can lead to longer life spans but it is extremely rare for any person to reach 40. (1)
Hunter and I continued through junior high and high school together. She slowly began to regress and is now at the level of about a two-year-old child. Her first notable symptoms included difficulty swallowing and her speech became very slurred. In the eighth grade Hunter was moved from regular classes to special ed. because she was no longer able to keep up with her peers. By our junior year in high school Hunter served as a helper for the mentally challenged students because while all of us were rapidly learning new things Hunter's brain could not function well enough for her to retain and comprehend new information. She sat with us everyday at lunch and her mom had to pack her soft foods because it was getting continuously harder for Hunter to swallow; she was even on a feeding tube for a few months when she kept choking on her food. At the same time Hunter's motor skills also began to deteriorate and the last time I saw her she was using a walker. Even though her body is self destructing Hunter remains positive and is an inspiration to all of us.
Science has led researchers to believe that the metabolic processes disrupted by Niemann-Pick Type C are very simple but crucial. "While most metabolic processes differ among various species (reptiles, fish, and mammals all function very differently), forms of NPC have been identified in many species, including humans, cats, mice, worms, and yeast" (2). These metabolic processes are in fact one of the basic foundations for life. (2) "In addition to being common among species, the metabolic process appears throughout an individual but is expressed in different ways" (2). The effects of these processes seem to also differ based on the organ. The effect on the spleen is different than the effect on the brain or central nervous system.
Since this disease is caused by a small number of genetic mutations this leads researchers to believe that even the smallest genetic disruption can have a huge effect on the organism. "Genes mutate frequently, but most mutations have no effect - they are either harmless (like an unusual eye color) or are offset by other genes performing similar tasks correctly". However with Niemann-Pick "any mutation is more likely to disrupt an important process. (2)
This disease has contributed to science as a whole because of the research done scientists have now discovered how cholesterol enters the cell and how it becomes a useful part of an organisms functions. The have also learned "how it is broken down by lysosomes, and how it is processed by the endoplasmic reticulum". Unfortunately, they are still unable to identify how cholesterol moves between parts of the cells which is believe to be the process affected directly by Niemann-Pick(2).
There is no cure for Neimann-Pick Type C. Hunter is on a medication developed in Tucson that has been shown to slow the progression of the disease in mice, but even this treatment is only in the research stages. (1)