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But Elise Faucheaux, of Youngsville, in Louisiana’s Cajun country, has already told Lentz that she’s interested in clinical trials for her son, Hunter, who is 23 months old and has Usher. Cochlear implants let Hunter hear, and therapy has enabled him to sit, stand and play normally. For now, his vision is normal.

Faucheaux said she hopes people learn about the condition so they’re not blindsided after a baby’s birth. She said she has a cousin with Usher but didn’t know the condition was genetic until Hunter was a few months old.

“So many people around here have never heard of it,” she said.

That’s one of the roadblocks to early treatment. Preventing deafness would probably require diagnosing the disease in the womb rather than in early childhood or adolescence, as is usual now. People in groups with a high prevalence would have to be tested for one of the defective genes that causes Usher. If each parent had one, their fetus would be tested.

Dunning, whose 14-year-old daughter has the syndrome, was both enthusiastic and cautious about the new results: “I think it’s exciting. It has the potential to really help newborn kids with Usher syndrome _ if it works as we hope.”

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Online:

Study: http://www.nature.com/nm/journal/vaop/ncurrent/full/nm.3106.html