Rancho Bernardo Family Spreads Hope About Tay Sachs Disease - NBC 7 San Diego

Rancho Bernardo Family Spreads Hope About Tay Sachs Disease



    Rancho Bernardo Family Spreads Hope About Tay Sachs Disease
    Jan Marquez cares for her 7-year-old son Gavin in their Rancho Bernardo home.

    For nearly four years, Gavin Marquez of Rancho Bernardo has put up a fight in his battle against Tay Sachs disease.

    It's a genetic disorder that progressively destroys nerve cells in the brain and spinal cord.

    “One day everything looks pretty and the next day you're hit by a train and you didn't even see that train coming,” said Jan Marquez, the boy’s mother.  

    Now 7 years old, Gavin is bedridden. His family has to feed him intravenously, while keeping a close eye on his respiratory system.

    Child Battles Tay Sachs Disease

    [DGO] Child Battles Tay Sachs Disease
    The Marquez family talks to NBC 7 reporter Diana Guevara about their 7-year-old son's battle with Tay Sachs disease.
    (Published Friday, April 5, 2013)

    “You could just swallow your saliva, he can't,” said his mother.

    There is no cure for what he is going through. But despite this hardship, the family has held out hope doing all they can to raise awareness about Tay Sachs. Not only to help their son, but other families as well.

    "She has such strength and focus and courage in the face of devastating heartache,” said Kim Kubilus, with the National Tay Sachs and Allied Diseases Association. “Her whole family is truly an inspiration to all of us,” she added.

    Which is why for the first time in more than a decade the National Tay Sachs conference has decided to come to San Diego.

    "It’s an opportunity for the families to come together meet face to face share care tips, about coping and develop those strong bonds with other families,” said Kubilus.

    It is a sense of comfort, support and most of all hope during some of the darkest days.

    “The way I see it, is like if you don't have hope then it's almost like you're burying your child,” said Marquez. “So the hope is what keeps me alive keeps me going. That hope is that possibility that there is a cure [and] that's worth it all.”

    The goal for these families is to raise enough funds for gene therapy. Many of them hope they can begin treatment next year.

    Meanwhile, the National Tay Sachs and Allied Diseases Association will continue their conference until Sunday April 7 at the Marriott in Mission Valley.

    For more information you can visit their website.

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