1. Jonah Weishaar looks like a normal, healthy 2-year-old boy as he giggles coming down the slide at a Brooklyn playground. But for his parents, Jill and Jeremy, it’s a race against time.

    Last May, Jonah was diagnosed with Sanfilippo Syndrome type C, an incurable and extremely rare disease that affects one in 1.4 million children in the U.S. Jonah may have only two more years of relative health, doctors say, before he starts to show symptoms: mental retardation, bone deformation, organ and tissue damage, and ultimately death before adulthood.

    Jill is determined to use every moment to help find a cure. She needs to find enough other children like Jonah, who is the only child in New York City with the condition, to justify a study by Dr. María Escolar, a North Carolina genetic disease specialist. To raise awareness and reach out to other families, Jill and Jeremy also have created the Jonah’s Just Begun Foundation To Cure Sanfilippo Inc. (jonahsjustbegun.org).

    Five families with children with the condition have already agreed to the study and through the foundation, Jill has heard of three more overseas. Once 10 children with the syndrome agree to the study, Dr. Escolar will present her findings to drug companies to encourage a cure.

    An apparel designer, Jill stays at home caring for Jonah and networking on the disease. Jeremy, an NBC cameraman, brings money home and, importantly, the family’s health insurance.

    Watching her son enjoy the playground, Jill leaves no doubt about her mission. “I’m going to find a cure in Jonah’s life and give life to my son once again,” she said.

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Sanfilippo Family Stories

christel fernandez

All news interviews of Kids with Sanfilippo Syndrome.

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