How One Child’s Tyrosinemia Experience Helped Thousands

When she was two years old, Terry was diagnosed with tyrosinemia, a rare metabolic disorder makes the body unable to break down the amino acid tyrosine.

Tyrosine is an important building block of protein. The disorder can lead to organ failure, and patients are at risk for developing liver cancer, which is what happened to Terry.

Source: http://www.epainassist.com/images/Hemochromatosis11.jpg

Her only hope of survival meant having a liver transplant; and on July 2, 1991, Terry became the state of Georgia’s eighth pediatric liver transplant. Today, she speaks of her gratitude to the family of her donor–who was an 11 year old girl from Arkansas.

“Not a day goes by that I don’t think of her, her family, and what I was given.”

Source: http://rarediseases.org

As a result of Terry’s journey, newborns are now screened for tyrosinemia in most states. If left untreated, patients usually succumb to this disorder by the age of 10, so early diagnosis and treatment is vital. To learn more about the three different types of tyrosinemia, visit the National Organization for Rare Diseases (NORD) online.


To read more of Terry’s personal story, click here.

Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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