Identifying rare diseases with genetic testing | Family First

Advances in genetic testing are now identifying causes of thousands of rare diseases.

Until recently, the millions of people living with one of an estimated 10,000 conditions caused by a variant in a single gene were often left searching for answers as to what was actually causing their symptoms.

Now, new technology is giving a teenager and her parents the answers they've been looking for her entire life.

When Summer Nagele was born, she struggled with breathing, feeding and mobility, and a cleft palate that was repaired before her first birthday.