Family hopes local hospital will stock needed drug

BELLINGHAM, Mass. — Kids fall. That was the reassuring conclusion the doctor gave Meredith Piotti a few years back after the Bellingham Mom brought her daughter Reagan in for evaluation.

“Her pre-school teacher started mentioning she fell more than other kids,” Piotti said.

This neuromuscular clumsiness continued as Reagan entered kindergarten and beyond. She underwent examinations by specialists, but without a definitive diagnosis. And once the pandemic struck, and Reagan was at home instead of school, her decline in motor function was attributed to the stress of the times.

But in the summer of 2020, Reagan went from falling to not being able to walk on her own. The Piottis pushed doctors to look into her case again and by early this year, they had a definitive answer and it was a devastating one. Reagan is one of about a hundred people in the United States diagnosed with Niemann-Pick Disease Type C.

The inherited disorder allows cholesterol and other fats to accumulate in places such as the brain, causing damage over time. The symptoms become progressively worse and center around the loss of motor function -- with problems walking, talking, and swallowing developing over time. The disease also can cause memory loss and cognitive decline.

But every two weeks, the Piottis get a dose of hope -- when Reagan is dosed with an experimental drug called Adrabetadex, chemically classified as a cyclodextrin. The only hitch is, the 7-year-old has to fly to Chicago with one of her parents to get the drug -- because no hospital in New England is running a clinical trial with it.

The Piottis are hoping to change that -- and have held discussions with a few hospitals. But the pandemic has many institutions in catch-up mode on just their normal operations, Meredith suggested.

“They just haven’t been able to do it or it’s moving really, really slowly,” she said. “So there’s a couple of sites that are thinking about expanding it but they just haven’t been able to yet.”

So, for now, the Piottis -- Meredith and husband Evan -- take turns every two weeks, flying with Reagan to the Midwest, while the other stays home with the couple’s other two girls, Cecelia, age 5, and Jackie, who is one.

Adrabetadex is not a cure for Niemann-Pick. There is no cure. But Meredith Piotti said it is buying them time until a cure can be found for a disease that, sadly, takes no prisoners. For the moment, she’s just grateful to see improvement in Reagan.

“She’s able to participate in school,” Piotti said. “She’s able to play with her sisters. It’s given us hope.”

©2021 Cox Media Group