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.

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“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 genetic disorder. Emma’s body doesn’t make an enzyme needed to break down proteins. That can lead to kidney or liver failure, more often liver cancer.

“And it can be fatal,” said Amy.

“We obviously didn’t know anything about it,” said Nate.

(credit: CBS)

Emma is the first baby to be diagnosed with tyrosinemia type 1 by Colorado’s newborn screening lab.

“They’re the heroes in this story,” said Dr. Shawn McCandless, biochemical geneticist at Children’s Hospital Colorado and Emma’s doctor.

“Catching them early is absolutely critical,” said McCandless.

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Early diagnosis means immediate treatment with Orfadin, once a weed killer, now a wonder drug.

“We give Emma a poison every day that causes a form of tyrosinemia that we then treat with a special diet to keep her healthy,” said McCandless.

“It is amazing that these things are available,” said Amy.

Emma drinks a special formula she will need all her life. She will be on a low protein diet.

“You just have to make sure you’re really diligent about what she eats,” said Nate.

(credit: CBS)

Amy works in marketing at Children’s. Emma will always be a patient of the team of experts at the Genetics and Inherited Metabolic Diseases Department there.

“We’re very, very, very grateful,” said Amy.

“She should be able to live a normal life,” said Nate.

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There is no cure for tyrosinemia type 1, but the Stroehers hope promising gene therapies will offer a cure in Emma’s lifetime.