Roslindale Baby Battles Rare and Fatal Genetic Disease - NECN


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Roslindale Baby Battles Rare and Fatal Genetic Disease



    Family Raises Money For Baby's Life Saving Treatment

    A Massachusetts baby is battling a rare and fatal genetic disease and is in desperate need of life saving gene therapy treatment.

    (Published Wednesday, May 31, 2017)

    Thirteen-month-old Purnell Sabky or "Nell", as his parents Sam and Taylor nicknamed him, has a tough battle ahead of him.

    The baby from Roslindale, Massachusetts, has a rare and fatal genetic disease called Niemann-Pick Type A. It's so rare that there are only about 1,200 cases worldwide.

    Nell is missing an enzyme that helps metabolize fat so all the fat builds up around his organs and eventually in his brain.

    The disease has caused his liver to become enlarged and be exposed out of the rib cage. In addition, Nell's spleen is larger than it should be and his stomach is shrinking.

    Eventually, doctors say there will be a neurological decline making him distant.

    Nells parents learned of the diagnosis just before Mother's Day.

    "I started crying just thinking about what that meant," said Nell's mother Taylor Sabky. "You can never prepare for news like that."

    Without treatment, doctors say it is unlikely that Nell will make it to his third birthday. But there is a glimmer of hope.

    Doctors say there is a life saving gene therapy treatment that could cure Nell, but there is no funding to have the advancement go forward since it is such a rare disease.

    "It's within reach if we take some action and there is a clear path to treatment we've been so hopeful. So motivated so inspired," said Nell's father, Sam Sabky.

    "Of course as parents, we want to save our son but this is even bigger than that because it can be a cure forever and everyone," Taylor Sabky added.

    The family needs $750,000 for Nell's gene therapy treatment. They have already raised more than $150,000 on their GoFundMe page.

    The family hopes to reach their goal by June 30. They said if they can't help Nell in time, they hope that they can help another family in the future.

    To help with Nell's gene therapy treatment, visit the family's GoFundMe page.

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