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November 26, 2012

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November 26, 2012

Familial Dysautonomia is a rare genetic disorder that causes severe problems to the gastrointestinal, cardiac, pulmonary, orthopedic, renal, and ophthalmological systems. The Foundation has funded research and treatment leading to the identification of the gene, possible gene therapies, and extended life expectancy as well as improved quality of life for those afflicted. In its short history, the Dysautonomia Foundation has made an incredible difference for these patients and their families. In addition, it raises awareness among the general population to identify carriers before they have children. My niece has this disorder and is now 23 years old, when her life expectancy at birth was only 10 years, thanks to the work of this non-profit and its devoted medical personnel, volunteers, and donors. My family is now able to be tested to determine if they are carriers, thanks to the work of the foundation. In addition, the foundation has made it possible for FD patients to be designated as developmentally disabled, giving them access to educational and social services. Even though this is a rare disorder, the scientific work of the foundation has applicability to understanding and helping other disorders and disabilities.

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