Minnesota newborns to be screened for 3 new conditions

'Super Gav' family advocates for additional newborn screening

WINONA, Minn. — After months of advocating, the Quimby family is happy to see three new disorders added to the list of conditions for which all newborns in Minnesota are screened.

Nick and Shanna Quimby’s son, Gavin, perhaps better known as Super Gav in the area, had a rare brain disease called metachromatic leukodystrophy that newborn screening doesn’t detect.

“Just having someone tell us right away that this is what it is …,” Shanna said. Nick added, “with a single prick. As a newborn he could’ve had gene therapy right away and been done with kindergarten this year.”

The Quimbys hope to give other families the chance for early detection and potentially lifesaving treatment. They worked with lawmakers like state Sen. Jeremy Miller to try pass the Super Gav Act, which aimed to add six rare disorders like Gavin’s to standard newborn screening in Minnesota.

Although the bill didn’t go through, it jump-started the conversation, and now, the state’s Department of Health announced it’s adding three of the conditions to the process.

“There’s so much more with early detection than you can when it’s too late, like with him,” Shanna said. “It gives purpose to why he was sick and why he died. Other people won’t have to go through what we did.”

The three conditions added are mucopolysaccharidosis type 1 (MPS-1), Pompe disease and X-linked adrenoleukodystrophy (X-ALD), but not the disease Gavin had — MLD. According to Paul Allwood, assistant commissioner of the Minnesota Department of Health, there is no effective way of screening for MLD yet.

“It takes a lot of science and we aren’t there yet, but the prospect for the future is quite bright,” he said.

“I would give everything that I’ve gotten in my life to have my child back,” Nick said. “I would love to have an MLD screening.”

The Quimbys aren’t giving up.

“We’re not quitters,” Nick said.

Allwood said about 70,000 newborns are tested for disorders each year, and with these three new conditions, they estimate that about 15 to 20 screened will then require additional follow-up work. He said by getting those babies treatment earlier, their quality of life goes up and their risk of death goes down.

Screening of Minnesota-born babies for the three conditions will start in January.