Treating Fabry Disease Video

This health video looks into the different treatments for Fabry disease which is the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.
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Jennifer Mathews: Raul Hernandez, has always loved sports, it's just that he had to spend most of his life as a spectator. Raul Hernandez: It was constant pain anytime I tried to do any physical activity. Jennifer Mathews: Raul has a rare genetic disorder called Fabry disease. His mother and three uncles died of the disease. His 15 year old daughter Natalie has it too. William Wilcox: Fabry disease is a disorder of metabolism, where the body can't breakdown some fatty substances that circulate in the blood. Jennifer Mathews: The problem is a faulty enzyme; fatty substances build up and cause pain, clogged arteries and eventually organ failure. Raul Hernandez: I would prepare for life, for a short life. I try to cover all my bases, try to pay off the home and try to get all the basic necessities out of the way and then I would always just say to myself well now you are getting close you will able to die in peace. Jennifer Mathews: Researchers are now testing an advanced enzyme replacement therapy, that gives patients the enzymes they are missing. Speaker: Let's brought hope to these people that have had none, that have lived in misery throughout their lives and now, they have got a new outlook on life. Jennifer Mathews: Raul was selected for the clinical trial, he gets a two hour infusion every two weeks and says, he is 80% better, no more pain, no more fear of what lies ahead. Raul Hernandez: I am looking forward to one day being a grandfather and seeing my kids go off to college and just lead a normal life. Jennifer Mathews: This is Jennifer Mathews reporting.

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