The Potentially Deadly Consequences of an Oversight in Newborn Screening Tests


Manage episode 220662082 series 60790
By Discovered by Player FM and our community — copyright is owned by the publisher, not Player FM, and audio streamed directly from their servers.
When Jon Miller’s son was born doctors failed to diagnose a rare and deadly medical condition despite using newborn screening that was supposed to detect it. Doctors told him his infant was going to die. His son was diagnosed correctly in time as having tyrosinemia, a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, the result of an enzyme deficiency. The experienced led Miller to create NOTA, the Network of Tyrosinemia Advocates. We spoke to Miller about his advocacy, the need for addressing a problem with newborn screening, and why from the earliest days his organization has fought for access to needed medications for tyrosinemia patients around the world.

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