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

A Toronto coupleis raising money for a research lab in Boston they hope willhelp find a treatment for an ultra-rare disease their seven-year-old daughter wasdiagnosed with.

Chris Hunsburger saidhis daughter Penny was diagnosed with Selenon Related Myopathy, formerlyknown 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," Hunsburgersaid.

"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, saidDr. Alan Beggs, director of the MantonCenterfor Orphan Disease Researchat the Boston Children's Hospital.

Beggs saidone of the hallmarks is a rigid spine in early childhood and Scoliosisand, if left untreated by a surgeon, Selenon cancause the body to bend over. He saidrespiratory insufficiency and trouble breathing is anothercommon symptom, and many patients may need breathing assistance, especially when sleeping.

Penny often has to sleep with a BiPap machine, Hunsburgersaid, 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 knowncure 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 towardBoston Children's Hospital's Beggs Laboratory, one ofthe few research labs in the world working towarddeveloping 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 saidresearch 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 carriesin a normal copy of the Selenon gene.His team's research shows that mice who have no functioning Selenon genes, and makeno selenoproteins,producehuman protein afterthe adeno-associated viruscarries 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.

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

Beggs said hehopes his teamcan begin clinical trials within the next few years.

Even without treatment, he saidmany people with Selenoncan still grow up and have productive lives.

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

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