3-year-old with rare disease comes to Pittsburgh for treatment

PITTSBURGH — When a family found out their son had an extremely rare disease, they didn't know where to turn. Channel 11 found out the answer brought them thousands of miles, right here to Pittsburgh.

Gavin Giacalone is more familiar with hospital exam rooms than most 3-year-old children, and he goes to great lengths to visit them. He and his family live in San Diego, but chose Pittsburgh for care. Gavin has GM3 synthase deficiency, which means he is missing an enzyme that helps with brain development.

Less than a hundred cases of this disease exist, so the family's search for answers  was an uphill climb. That is, until they found a doctor familiar with Gavin's condition. That conversation, led to a first-of-its-kind decision.

"He said the one thing we have not tried yet is a liver transplant," said Kendra Giacalone, Gavin's mom. "Instantly, there was no question in my mind. It was like, let's do it."

Because there was no proof that a liver could help Gavin, he couldn't be on a donor list. That meant they would need a living donor. The Giacalones reached out to everyone they knew. It didn't take long before Kendra's sister volunteered.

"She was the first person tested and she was a match," she said. "She has the same red hair, so it was like meant to be."

Kendra says within days of the operation there was difference.

"The first thing we noticed right away, was five days before he was discharged, he started sleeping throughout the night," said Kendra.

Gavin's road to recovery is long.  His doctor says the next step is to make sure his liver is making the right proteins to help with his brain development. But his mother says coming to UPMC has given her family hope for a brighter future.