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The Elephant man was more than a freak...he was a human being who had a name, and his name was Joseph Carey Merrick. Here is a little bit about him:Joseph Merrick was born on August 5, 1862 in Leicester to Mary Jane and Joseph Rockley Merrick. He had a younger brother and sister and was completely normal until the age of three.In an autobiographical note which appeared on the reverse side of his freak show pamphlet,
It was later discovered that Merrick's disorder was caused by what we today call Neurofibromatosis; Merrick's was NF1.
·NF has been classified into three distinct types; NF1, NF2 and schwannomatosis. They are caused by different genes, located on different chromosomes.
·NF1 is the most common neurological disorder caused by a single gene; occurring in one in every 3,000 children born.
·NF2 is a rarer type, occurring in 1:25,000 people worldwide.
·While today there is no consensus, studies indicate that schwannomatosis occurs in 1:40,000 people.
·The Neurofibromatoses are genetically-determined disorders which affect more than 2 million people worldwide; this makes NF more prevalent than cystic fibrosis.
PGLNext is a next-generation sequencing (NGS) panel that simultaneously analyzes 10 genes associated with an increased risk of developing paragangliomas and/or pheochromocytomas (PGL/PCC).
Utilizing next-generation sequencing (NGS) technology, Ambry Genetics developed a comprehensive testing panel comprised of 10 genes implicated in PGL/PCC susceptibility (MAX, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL).
Allen Wilson of the Pheo Paratroopers joins Joyce and Mike to talk about the organization, its mission, and the recent International Conference on Pheochromocytoma and Paraganglioma.
Pheochromocytomas ("pheos" for short) are hormone-secreting tumors that can provoke that "fight or flight" response that has been protecting us from danger since the saber-toothed tiger. While it is an important response, if there is in fact no danger, the artificial response can cause changes in blood pressure and digestion. If not corrected quickly, this continual jagging of the system can lead to cardiovascular damage.
Pheochromocytomas in the chest or neck are usually called paragangliomas. They occur on the ganglia (bunches of nerves) along the sympathetic nervous sytem.
There are many genetic flaws that can increased the odds of getting a pheo. Families who know they are at risk can do periodic screening to find pheos and paras early, so that they can be treated before cardiovascular damage occurs.
For more information about pheochromocytomas, paragangliomas, research and diagnostic information, see http://www.pheoparatroopers.org/
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