8-year-old Northport girl diagnosed with rare genetic disease

Posted: Updated:
NORTHPORT -

An 8-year-old girl from Northport was diagnosed with a rare genetic disease, leaving her family stunned.

A stomach ache and a hunch is how Elly Arabadjief was diagnosed last year with Wilson's disease, which means her body doesn't have the enzyme needed to get rid of copper that is naturally occurring in many foods. The copper had built up in her liver.

The third-grader was tagging along at her sister's appointment and her mom mentioned the stomach aches to the pediatrician. He says he just had a feeling and ordered tests, followed by more tests, blood work and a liver biopsy.

Elly is being treated medically for the disease and had to totally change her diet. She can't eat a lot of her favorite foods anymore, including chocolate.

Doctors say Elly should be fine if she stays on her diet and takes her medication. The disease can be fatal if it's not discovered early.

According to the National Institutes of Health, about 1 in 30,000 people have Wilson's disease. Symptoms usually appear between ages 5 and 35, but doctors have also seen cases in older patients.

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