2. General Description Progeria, a dominant trait, is a rare disease amongst children, which causes rapid physical growth and is terminal. Researchers have determined that Progeria is caused by a point mutation in a single gene, LMNA. The LMNA gene produces lamin proteins, lamin A and lamin C. In the case of Progeria, a strange form of protein is produced by the LMNA gene, producing a mutation in lamin A. This mutation of the protein causes the nucleus to become unstable, resulting in the premature death of the cells. There are not carriers of this disease, it is simply a rare gene mutation.
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4. Symptoms Some specific symptoms of this disorder include growth failure, loss of body fat, loss of hair, smaller jaw structure, and teeth are usually missing, or delayed in growth. There are no signs or symptoms of Progeria when the child is first born.
5. Symptoms Continued Symptoms usually occur within the first year of their childhood. Although these children have an ultimately fatal condition, they do not have as many limitations as expected. As the children’s body develops, stiffness and joint pain begins to inhibit what they are able to do. A common trait of these children is the exhibition of curiosity.
6. Statistics As children with Progeria age their symptoms become more acute. Children diagnosed with this fatal disease, generally have a life expectancy of 13. It is estimated that 1 in 4 to 8 million are born with this disorder. As of the year 2010, 78 children have been reported to have Progeria.
8. Life with Progeria Life for a child diagnosed with Progeria, is not significantly different from other children. Like children not diagnosed with Progeria, they enjoy reading, writing, learning, and playing. Progeria does not affect the child’s mental stability, which enables them to participate in everyday life. Parents having to raise a child with Progeria, are emotionally traumatized by their child’s short life expectancy. Many hope to find a cure that will eliminate the unfortunate defect that these children are born with.
9. Life for Kaylee Welcome to the life of Kaylee, who was diagnosed with Progeria about 6 years ago. This young girl enjoys playing with her three older brothers, and always loves a good game of softball. Her favorite color is pink, and she enjoys munching on her favorite food, Pork Chops. Kaylee is in the 1st grade, and she enjoys going to school and the library. She is very popular, and is very active throughout the community.
11. Treatments Unfortunately, there is no cure for Progeria. However, there are possible treatments for the symptoms of Progeria. Taking low doses of aspirin, may reduce the chance of a heart attack. Getting therapy for stiffness or joint pain, will help ease the child’s pain. Providing basic nutrition, will also help the child develop.
12. Bibliography Mayo Clinic Foundation. (1998-2011). Progeria. Retrieved from http://www.mayoclinic.com/health/progeria/DS00936. May 22, 2011 Progeria Research Foundation. (May 12th, 2011). About Progeria. Retrieved from http://www.progeriaresearch.org/index.html. May 22, 2011. National Human Genome Research. (July 6th, 2010). Learning about Progeria. Retrieved from http://www.genome.gov/. May 22, 2011. Progeria? What is Progeria? ( ). Progeria. Retreived from http://www.progeriaproject.com/Progeria/whatis.htm. May 22, 2011. NCBI. (April 25th, 2003). Point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12714972. May 22, 2011. Kaylee’scourse. ( ). Kaylee’scorner. Retrieved from http://www.sweetkaylee.com/#/content/-00_Home/. May 22, 2011. Pictures provided by: http://www.progeriaresearch.org/assets/files/Satellite-Map-12_21_2010--Bold-Type-V2-copy.jpg http://www.sweetkaylee.com/content/01pictures/Age%207/DSCF0402.JPG http://www.eurasnet.info/eurasnet/files/images/images/AS-Disease/HGPS.jpg
