“Broken Hearts, Electric Shocks” is an intimate telling of one family’s struggle to cope with a rare heart condition known as Long QT Syndrome.
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Archive for June, 2008
Long QT Syndrome can be an acquired or rare genetic disorder. Gene mutations account for 75 percent of Long Qt Syndrome. The most common genetic variations of this syndrome are Romano-Ward Syndrome and Jervell and Lange-Nielsen Syndrome. Individuals with Romano-Ward have only one genetic variant from both parents. Individuals with Jervell and Lange-Nielsen have one genetic variant from each parent. This disorder causes cardiac arrhythmias and abnormal electric activity in the heart; which can lead to cardiac arrest and sudden death.
This video was created to show people what this disease looks like, and the research being done to try to treat and cure it.
Leukodystrophy describes a group of rare genetic disorders that affect the central nervous system. These disorders are progressive in the disruption of the myelin sheath insulating nerve cells. Depending on the type of Leukodystrophy this disorder can be recessive, dominant, or x-linked. Currently there are 34 known variations of this rare genetic disorder. Specific types include: Krabbe Disease, Adrenleukodystrophy, Canavan disease, metachromatic leukodystrophy, and more.










































