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PATHWAYS
SCIENCE BENEFITING PATIENTS
Compassion Drives Lifelong Research
Making life easier for children with rare metabolic disorders compels this influential scientist to search for a cure
Freeze with his sister Jackie Hudson Freeze, Ph.D., director of the Human Genetics Program, seeks answers for children with rare metabolic conditions
For more than 20 years, Hudson Freeze, Ph.D., has worked with children with CDG and created an international network of families, scientists and physicians. The walls of his office and lab are filled with photos of the children he has met. “Not a day goes by when I don’t think of them and their struggles—but mostly their smiles,” he says. “It’s the reason we won’t give up on a cure.”
CDG—which stands for congenital disorders of glycosylation—are rare inherited disorders that can cause serious, sometimes fatal, malfunctions of different organs and systems in the body. Freeze understands firsthand about watching a family member struggle with physical and neurological challenges. His younger sister, Jackie, is severely disabled. “When I’m with my CDG families, I’m at home with her,” says Freeze. “It feels like I’m in my own living room when I was a kid.” He visits his sister every year in Indiana, where she lives in a residential home setting with other disabled housemates. She’s been tested for CDG, which she
does not have. Freeze also tested himself to see if he has the PMM2 mutation, which is shared by many CDG patients. “I was surprised to discover that I carry the most common PMM2 mutation, bringing me even closer to my CDG family,” says Freeze. Families reach out to Freeze almost weekly seeking help. He says: “If someone asks for help, I say, ‘Let me try.’ Any glimmer of hope is a path worth pursuing, anything to make life easier for children with CDG.”