App used to help diagnose patients with rare diseases

(KYMA, KECY/CBS) - Getting an accurate diagnosis can be difficult for the 30 million Americans who have a certain rare disease, but one family tells their story of how modern technology helped their young boy.

(SOT Kristie Battavio/Mom)
All milestones were delayed by at least three or four months by the time he was four. I mean he definitely delayed in speech and physical activities," said Kristie Battavio.

Her 9-year-old son, Keegan Battavio, is a very happy and energetic boy who wasn't able to get accurately diagnosed until they visited Geneticist Dr. Karen Gripp.

"We can take pictures of patients. And in the app, we can then have the algorithm, analyze the facial features and provide suggestions of potentially matching diagnoses," explained Dr. Gripp.

She used FDNA's Face2Gene app to detect rare diseases, which was able to diagnose Keegan in a matter of minutes.

"It allows clinicians to think and consider diagnoses that we would not naturally consider, for example, because a condition is so rare that even a clinical geneticist like me has never seen a patient with it," continued Dr. Gripp.

Keegan was diagnosed with Smith-Lemli-Optiz Syndrome, which impacts learning and behavior.

Kristie Battavio felt like it was a journey to find a diagnosis but is glad she has more information now.