Listen up, people! This is important—especially if you’re an expectant mother!
This article featuring a video in Rare Disease Report, is about an incredible mom named Amanda Miller and her son, Evan. Evan was born with a potentially rare and deadly disease called Tyrosinemia Type 1. But after the birth, little Evan (who seemed healthy), and his mom were simply sent home. Doctors were oblivious that Evan was in danger and that within a matter of days, he’d become gravely ill.
Why?! Because in the State of New Jersey, where Evan was born, hospitals apparently only use blood tests vs. adding a urine test to screen newborns. Granted urine tests are more expensive, but surely there’s a way to get the NJ legislature to pass a new law that would grant this type of newborn testing? Or does it take an act of congress?! Seriously. Early treatment for tyrosinemia is SO important!
Fortunately, Ms. Miller wouldn’t take no for an answer; when she noticed her son was getting sick after a couple of days, she took Evan to the pediatrician. And when she was told that he was just a little colicky and she was just an overly concerned new mother, she kept pressing for medical care, insisting that something was wrong.
Within a few more days, Evan’s condition drastically went from bad to worse. After a trip to the ER, when she was told that his tests were negative, she took her son to a local children’s hospital.
In less than 24 hours, an informed doctor conducted more diagnostic testing which included a urine test and diagnosed Evan with tyrosinemia type 1. Today with proper medical care and treatment, Evan is thriving—thanks to his courageous mom and the staff at the children’s hospital!
So if you are concerned about this because you have a baby on the way or know someone who’s expecting, go to: National Newborn Screening & Global Resource Center and or the American Pregnancy Association to learn which newborn screening tests are conducted in your state.
