Okay, Dr. House:
We’ve got first-time parents who claim their newborn is “cranky, fussy, projectile vomiting, and refusing to eat.”
Although they also say the child has a distended stomach, the pediatrician says it’s an umbilical hernia that was present at birth. Minor contact with the abdomen results in screaming, so tests were performed. The results show fluid in the abdomen along with enlarged kidneys and spleen. His blood sugar is at 23 and he’s in liver failure.
So, what’s the diagnosis?
Of course it’s easier to diagnosis tyrosinemia type 1 when you’re on a website that specializes in the illness.
It’s much harder in real life…especially when the child passed all his newborn screening tests.
One of the problems with newborn screening, however, is that if often relies on blood work. For diagnosing tyrosinemia type 1, urine tests prove more effective–though they’re also more expensive.
Unfortunately, the above situation is exactly what Amanda and Evan Miller experienced on the Rare Disease Report tyrosinemia type 1 video.
Evan passed his newborn screening, only to present the above symptoms. Amanda took him to his pediatrician…again and again. And while that doctor might have thought it was just one mom being a persistent pain the ass, that persistence saved her son’s life. Amanda even went on to an ER, a trauma hospital, and finally a children’s hospital to get the diagnosis.
Evan came within days of dying, but now that he’s on treatment he seems to be doing just fine.
And Amanda didn’t let the experience prevent her from having more kids. Now Evan has a little sister (who doesn’t have tyrosinemia). And the Miller’s story is worth remembering. Even when doctors tell you everything is fine, trust your instincts and be persistent until you get an answer you’re satisfied with.
