You’re a mother, and life is typical. You’re also a pediatrician. Then one day you hear that your daughter is autistic. OK. Then you get the news that, no, it’s not autism but a very rare disease called Sanfilippo Syndrome. From your training as a pediatrician you quickly think back and remember the MPS rare diseases, but nothing else prepares you for what’s ahead.
Meet today’s guest, Cara O’Neill, who shortly after she learned the real diagnosis of her daughter, Eliza, together with her husband Glenn founded the Cure Sanfilippo Foundation out of their house by launching a viral video. Today the organization includes fifty families and funds research into treatments for the disease, including a gene therapy. Their daughter was patient number one.
Not only does the foundation work on a cure and other meaningful therapies, such as a program based on regenerative medicine, but they are also working to improve diagnosis. Currently diagnostic tests for Sanfilippo are not in any newborn screening panels. This is partly because the tests are just being developed, but there is activism work to do on the political front as well. States are not allowing the tests that are developed be included because there are no approved therapies.
“Requiring a therapy to institute newborn screening is ridiculous,” says Cara.
She knows many families who have three children by the time they know about their first child having the disease because of the problem of diagnostic delay.
“Maybe their first child gets diagnosed at age five. Then they have two more children and find out, gosh, they are affected too. They could have had more informed family planning decisions available to them had they known earlier.”