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Galactosemia

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CNY/NNY/S. Tier: Galactosemia
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When raising a healthy child, milk and cheese are part of a healthy diet, but for some children, a diet with dairy can not only be devastating, it could be life threatening.

"We brought him home and he lost some weight. They normally lose weight, but he lost more than normal," said Nicole Casale.

The Casale's had a baby boy. His name was Joseph. He was just days old. A genetic test proved he shouldn't have milk products and they switched him to a soy formula. Their doctor then advised them to look out for a fever.

Casale said, "In the morning, woke up went to give him a bottle and his fever was 100.2."

A fever was a warning sign.

"We thought we had a baby with a fever and they come back and say your baby has meningitis, it just floored us," Casale said.

It took months for Joseph to recover. His diagnosis, galactosemia.

"Galactosemia, it's a very rare, genetic metabolic disorder, about one in 60,000 people get it. Both parents have to be carriers to pass it to their child," said Casale.

Joseph is missing the enzyme that breaks down milk sugars.

Casale said, "Instead of the galactose being broken down into energy, it becomes a poison and it in his body goes to different areas: Cataracts, blindness, brain, liver, kidney damage."

Joseph's hearing was also damaged and now wears a hearing aid. Other side effects for him may be down the road.

"Learning disability, speech, apraxia, motor skills," Casale said.

There is no cure. The treatment is a diet free of galactose. That means certain fruits and vegetables, like tomatoes and chick peas, are out. Some doctors suggest a less strict diet for the kids, but the Casale's are not taking any chances.

"We are not going to allow him to have tomatoes, watermelon. Your body produces galactose, so that is a strike against you," Casale said.

The Casale's are hopeful more research can be done to better understand and treat this disorder.

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