Philadelphia hospital offers specialized treatment for child with rare disorder

HONOLULU (HawaiiNewsNow) - When he was 3 months old, little Alfredo Case had a seizure, but it didn’t look like anything his mother could recognize.

“He just had a lot of rapid eye movement and a lot of crying. Instinctually, I knew something was very wrong,” Karina Case said.

A few months later, another seizure had the family back in the emergency room.

This time it left Alfredo unconscious.

“You never imagine what you’ll feel like until you’re in that situation. Then all you’re wanting is just for your little fella to come back and open his eyes and make sure everything is OK,” Karina said.

Tests showed Alfredo suffers from congenital hyperinsulinism, a rare and serious disease where his pancreas produces too much insulin. That leads to a lack of glucose in the blood stream and deprives the brain of fuel.

Left untreated, the condition could cause brain damage or lead to death.

"The symptoms of hypoglycemia in a baby can be deceiving because it may appear that the baby is hungry or tired," said Dr. Diva De Leon-Crutchlow, chief of Endocrinology at Children's Hospital of Philadelphia.

Alfredo’s Hawaii doctor recommended treatment at CHOP, the top medical facility for treating children afflicted with hyperinsulinism. Physicians there devised a treatment plan.

Karina is thankful for the hospital's help.

“Not just the medical management but there’s so much that they do for extended-stay families, since we were there for over a month,” she said.

With the seizures in check, Alfedo came home last week. But he'll have to return to the Philadelphia hospital for yearly check-ups.

"By the time he's of a school age we should be able to reduce the amount of treatment that he's receiving," De Leon-Crutchlow said.

Alfredo will never be cured of the condition, but his long-term prognosis looks good.

“He’s got all these crazy ideas, so I know he’s getting plenty of sugar in his brain. He’s following his brother around. He’s doing really well,” Karina said.

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