August 1, 2021

Rocky Daily News

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Denver Baby Is First In Colorado Diagnosed With Tyrosinemia Type 1, Extremely Rare Genetic Disorder – CBS Denver

1 min read

DENVER (CBS4) – A Denver baby is the first in Colorado to be diagnosed with a disorder so rare it is believed there are fewer than 200 cases in the United States. Her parents are thankful it was picked up through the Colorado Department of Public Health Newborn Screening Program, and they feel blessed to have experts at Children’s Hospital Colorado already on the case.

(credit: Stroeher Family)

Emma is adorable at 6 months, little sister to 2-year-old Ellie. Her parents, Nate and Amy Stroeher, were prepared for diapers and sleep deprivation, but not for the call they got when Emma was 5 days old.

“It’s your worst nightmare to hear as a parent that something is wrong with your child,” Amy told CBS4 Health Specialist Kathy Walsh.

That something is tyrosinemia type 1, a rare…

Read the complete story from the source here …

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