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HADLEY HOPE
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Niemann-Pick type C disease is an autosomal recessive disorder affecting lipid metabolism (the breakdown and use of fats and cholesterol in the body), in a way which causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. Type C is characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, neuro-degeneration, increased muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Nieimann-Pick disease, type C is estimated to be 1 in 150,000 people.
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Please keep this confidential from any children who may come in contact with Peyton, Kayla, or Jonah. |
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Raising Awareness of Niemann-Pick Type C Disease |
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UPDATED: 8/22/08 |
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When we first found out that Peyton, and possibly Kayla and Jonah may be affected with a life-threatening disease, we were reluctant to tell anyone. The main reason being, that as parents, we wanted to protect our children from any knowledge that they may die in childhood or early adulthood. We now know that even though we have this fear, we must do everything possible to help our kids medically, while still protecting them. This means telling people about the disease and ultimately raising funds for medication, trials, and research that may potentially provide a cure for our children, as well as others in the U.S. and around the world. We are on a mission to find potential therapies, and possibly a cure. Won’t you join us? |