On the outside, Julie Hoyt appears to be a normal, healthy 4-year-old girl.

She attends preschool at Moccasin Elementary in Buchanan where she lives with her mother, Rebecka, and father, Tom.

Julie will tell you her favorite sandwich is peanut butter and jelly, cut into triangles and circles by her mother. No crust of course.

She is quick to let you know she loves the color purple.

The child says her favorite books are ones featuring Clifford the Big Red Dog.

Unless you know the family well, or can read a person’s genetic code, you wouldn’t know that Julie was born with a rare genetic condition called Alpha-1 Antitrypsin Deficiency. The hereditary condition is passed on from parents to their children through genes and can cause serious liver disease in children and liver and/or lung disease in adults.

According to the Alpha-1 Association, the condition affects one out of every 2,500 people in the United States. Less than 10 percent of people living with Alpha-1 have been properly diagnosed.

Most people with Alpha-1 can extend and improve the quality of their lives through early diagnosis, which is why Rebecka wants to share Julie’s story prior to Rare Disease Day, Friday, Feb. 28.

“Many people do not know they have it until they are in their late 20s to 40s or beyond because they start having complications with their liver or lungs,” Rebecka said. “There is no cure, but there is a therapy we are learning about.”

Julie was born Sept. 17, 2009, at South Bend Memorial Hospital. When doctors noticed she had high levels of triglycerides, Julie was transferred to a Chicago hospital where genetic testing was done. Doctors might not have found the disorder if the Hoyts hadn’t mentioned that a family member had needed a liver transplant because of cirrhosis of the liver. After some checking, doctors learned the family member had Alpha-1 and that Rebecka and Tom, unknowingly, were both carriers of the condition.

“If we have another child there is the chance that we could pass it on again, but we might not,” said Rebecka.

People with Alpha-1 have a severe lack of a specific protein in the blood that is responsible for protecting the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke and heavy pollution. It can also cause liver disease.

Anyone with a family history of lung or liver disease should be tested for Alpha-1, according to the Alpha-1 Association.

“It’s better to know you have it than to not know because there are things you can do to keep from having the negative side effects,” Rebecka said.

Today, Julie is living a healthy, normal life, aside from regular doctor check-ups to monitor her liver and lungs. Her prognosis is good, Rebecka said, as long as long as she maintains a healthy lifestyle and avoids things like tobacco smoke and alcohol throughout her life.

“Because we know she has this, this prepares us for the future and for the hope that she won’t have any serious complications,” Rebecka said.

Tom, 40, works at Bosch in St. Joseph and Rebecka, 35, works at the Niles-Buchanan YMCA.

To learn more about Alpha-1, visit the website alpha-1foundation.org. For more information about Rare Disease Day, visit the website rarediseaseday.org.