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A Toronto couple is raising funds for the Boston Lab, hoping they can help their daughter

A Toronto couple is raising funds for the Boston Lab, hoping they can help their daughter

A Toronto couple is raising money for a Boston research lab that hopes to help find a cure for an ultra-rare disease their seven-year-old daughter was diagnosed with.

Chris Hansburger said his daughter, Penny, was diagnosed Selenone-related myopathyformerly known as SEPN-1, just over a year ago, although her symptoms began at a much earlier age.

“She never learned to crawl, she only learned to crawl on her back to get around the room. She couldn’t roll over,” Hansburger said.

“And then as she grew into preschool, she fell a lot.”

Selenon is a rare congenital disorder in which the gene responsible for making the selenoprotein N is mutated, often resulting in significant muscle weakness that can cause problems with walking, said Dr. Alan Beggs, director of the Manton Center for Orphan Disease Research in Boston. . Children’s hospital.

Beggs said early childhood spinal rigidity and scoliosis are among the hallmarks, and if not treated by a surgeon, Selenon can cause the body to bend. He said respiratory failure and breathing problems are another common symptom, and many patients may need help breathing, especially during sleep.

Father and daughter
Hunsburger says Penny’s Promise has already raised $100,000 for Boston Children’s Hospital, where Beggs’ lab is currently conducting research to develop selenon treatments. (Courtesy of Chris Hunsberger)

According to Hansburger, Penny often had to sleep with a BiPap machine because “her breathing would slow down to the point where it was damaging her brain … she would wake up every day with debilitating headaches.”

There is no known cure or cure for selenon, so the family founded Penny’s Promise, a charity which aims to fund research into a cure and cure.

The family is also holding a fundraising gala on Nov. 2, with proceeds going to Boston Children’s Hospital’s Beggs Lab, one of the few research labs in the world working to develop treatment options. According to Hansburger, they have donated $100,000 so far.

Beggs is one of Selenon’s lead researchers. Because the disease is so rare, he said research into it is underfunded.

“Right now we know of about 100 patients in … the US and Canada, and then a couple in Mexico and South America,” he said.

The lab is making progress, the researcher says

Dr. Beggs said potential gene therapy has shown some success.

He said the therapy uses a harmless, adeno-associated virus that carries a normal copy of the Selenon gene. His team’s research shows that mice that lack functioning selenon genes and do not produce selenoproteins produce the human protein after an adeno-associated virus carries a normal copy of the human gene.

“Today we’re trying to show that mice really do get better,” he said.

man
Dr. Alan Beggs says his team has made significant progress in developing selenon treatments, and he hopes clinical trials of some of them could begin within a few years. (CBC News)

Because the mice tend to look relatively healthy, he said, it can be harder to tell if the treatment is working, but “in theory, we expect it should be.”

Beggs said he hopes his team can begin clinical trials within the next few years.

Even without treatment, many people with Selenon can still grow and live productive lives, he said.

Hansburger said his family will do everything they can to continue to support Penny and others living with the rare congenital condition.

“We named the charity Penny’s Promise on purpose,” he said. “We work every day to fulfill that promise — that we’re doing everything we can for it.”