It’s a scenario that turns veins into ice: your certified healthy infant’s belly swells to the size of a basketball and doctors say he has less than 48-hours to live.
That’s what the John and Amanda Miller had to deal with not long after their son Evan, was born. Luckily, the couple and their baby ended up in the capable hands of specialists at the Children’s Hospital of Philadelphia, where Evan was diagnosed with the rare genetic metabolic disease tyrosinemia and received lifesaving treatment.
You are going to LOVE meeting Evan when you watch this video!
There’s really nothing better than that, but the Millers deserve a great big round of applause for what they did after getting a handle on Evan’s disease. As mentioned in the video, at birth, Evan had passed all the mandatory screening tests.
But it turns out that not all states offer the same screening tests… and those who use tyrosine as a primary marker may not be sufficient because it can take a while for tyrosine to accumulate to identifiable levels.
John and Amanda went home with their baby feeling confident about the hospital’s clean bill of health for little Evan. They never expected the terrifying situation they would soon face.
To make sure no other families had to face such a scary situation alone, the family created an online support and information website called The Network of Tyrosinemia Advocates, or N.O.T.A.
Their tagline? “N.O.T.A. problem, we’ve got each other.”
Tyrosinemia is what’s called an amino acid metabolism disorder.
There are multiple forms of tyrosinemia, referred to by type I, type II, and type III. Babies with tyrosinemia have trouble processing the amino acid tyrosine, which causes it to build up in the body. Untreated, it can cause mild retardation, language skill difficulties, liver problems, and even death due to liver failure.
Though each type of tyrosinemia has different treatment specifics, treatment generally requires a special low-protein diet and sometimes a liver transplant. Early detection and treatment can often prevent the severe outcomes.
Thankfully, Evan’s tyrosinemia was diagnosed and treated in time. This little guy makes me smile! In fact, I think I’ll watch the video again!
