Toronto couple fundraising for Boston lab they hope can help their daughter

A Toronto couple is raising money for a research lab in Boston they hope will help find a treatment for an ultra-rare disease their seven-year-old daughter was diagnosed with.

Chris Hunsburger said his daughter Penny was diagnosed with Selenon Related Myopathy, formerly known as SEPN-1, a little over a year ago — though her symptoms began showing at a much earlier age.

"She never learned to crawl, she only ever learned how to scoot while lying on her back to get around the room. She couldn't roll over," Hunsburger said.

"And then, as she was getting older in preschool, she was falling over a lot." 

Selenon is a rare congenital condition in which the gene responsible for producing selenoprotein N mutates, often leading to significant muscle weakness that can cause people to have trouble walking, said Dr. Alan Beggs, director of the Manton Center for Orphan Disease Research at the Boston Children's Hospital.

Beggs said one of the hallmarks is a rigid spine in early childhood and Scoliosis and, if left untreated by a surgeon, Selenon can cause the body to bend over. He said respiratory insufficiency and trouble breathing is another common symptom, and many patients may need breathing assistance, especially when sleeping. 

Penny often has to sleep with a BiPap machine, Hunsburger said, because "her breathing would slow so much that she was doing damage to her brain ... she was waking up with debilitating headaches every day." 

There is no known cure or treatment for Selenon, which is why the family has launched Penny's Promise, a charity meant to fund research for treatment and a cure.

The family is also hosting a fundraising gala on Nov. 2, with funds going toward Boston Children's Hospital's Beggs Laboratory, one of the few research labs in the world working toward developing treatment options. So far, Hunsburger said, they've donated $100,000.

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

"We now know of about 100 patients in ... the U.S. and Canada, and then a couple in Mexico and South America," he said. 

Lab making progress, researcher says

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

He said the therapy uses a harmless, adeno-associated virus that carries in a normal copy of the Selenon gene. His team's research shows that mice who have no functioning Selenon genes, and make no selenoproteins, produce human protein after the adeno-associated virus carries in a normal copy of the human gene.

"What we're trying to do nowadays is show that the mice actually get better," he said.

Since the mice tend to look relatively healthy, he said, it can be harder to tell if the treatment is working but "theoretically we expect it should be."

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

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

Hunsburger said his family will do all they can to continue supporting Penny and other people living with the rare congenital condition.

"We called the charity Penny's Promise really intentionally," he said. "We work every day to live up to that promise — that we're doing everything we can for her."