Miami Family Fights Blindness-Inducing Gene
Treatment and, one day, a cure may come from new discovery
A new discovery is bringing hope to a South Florida family that suffers from a rare gene that causes blindness.
Ask Betti Lidsky about her four children and she'll tell you of great success and great struggles.
"They have full lives," she said, "they all are educated, working professionals, they're married, they have children, they didn't let it stop them."
By 1993 her son and two of her daughters, then ages 12 to 19, received a retinitis pigmentosa diagnosis within six months of each other. The disease leads to blindness.
"You never know what's gonna happen in life," Lidsky admitted, "and for Isaac, it's already happened -- he's blind, but he's incredible."
Betti's son Isaac found out his diagnosis the day before leaving on a trip to Israel, but he still went. His parents did consider scrapping something else.
"There was a question of cancelling his bar mitzvah," Lidsky recalled, "and we're like, no, we're not cancelling, that's a celebration."
In 18 years, about a dozen labs have run tests on the Lidsky siblings who now live out of state. But their case remained a mystery, until now.
"I couldn't really process what they were telling me," remembered Lidsky, "it was just that monumental."
University of Miami researchers used high powered machines to sequence the Lidsky's DNA. They tested genes in tiny zebra fish to help pinpoint the cause.
"Looking at all the variations in all the genes," explained lead researcher Margaret Pericak, "we were able to come up with one gene that actually caused it in this particular family."
Knowing the cause can help researches develop treatment, and, one day, a cure. It's a mission Betti won't give up on.
"I know that my kids will see again," Lidsky asserted. "They will."
Follow Julia Bagg on Twitter at @juliabagg.
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