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'Where There's a Will': Geneva parents seek gene therapy funding for son with myotubular myopathy

William Whiston, 17 months, sits with his parents, Melanie and Dan, in their Geneva home. William was born with myotubular myopothy, a rare genetic disorder that does not allow him to move his muscles with any force.
William Whiston, 17 months, sits with his parents, Melanie and Dan, in their Geneva home. William was born with myotubular myopothy, a rare genetic disorder that does not allow him to move his muscles with any force.

GENEVA –  Moments after their second child was born, Daniel Whiston knew there was a problem.

Melanie Whiston, 34, delivered William through an emergency c-section at 34 weeks, earlier than the normal 40-week pregnancy.

Daniel Whiston, a local attorney, and his wife, Melanie, live in the Mill Creek subdivision of Blackberry Township.

“He was floppy and not crying,” said Daniel Whiston, 36. “I knew this was not just a premature baby.”

Then the doctor told the couple with urgency, “You need to pick a name.”

“We knew something was wrong,” Daniel Whiston said.

Once little William Whiston, born July 18, 2011, had a name, he was whisked to a neonatal intensive care unit and intubated. Daniel Whiston said his son was limp as far as muscle function. Diagnosis was elusive, but after six months, the University of Chicago did a muscle biopsy and gave it a name: myotubular myopathy, an extremely rare genetic disorder.

Mothers carry the defective gene to their children on the x-chromosome. The defect on the single gene prevents the body from creating a protein – myotubularin – needed for muscle development and function.

Only 200 children – almost exclusively boys – are born with it each year. According to the National Institutes of Health, it occurs in one of 50,000 births and has no cure or treatment.

William now has a ventilator, trachea and feeding tubes because his lack of muscle tone does not allow him to clear his airways or to swallow effectively.

His parents have learned to suction and clear his lungs several times a day. At night, he has nursing care so they can sleep.

“The lack of that protein does not permit muscle function,” Daniel Whiston said. “He can reach his arm up, but not with the power to do anything. He can bring his foot to his mouth, but he has no movement with power or stability.”

Melanie Whiston said her maternal grandmother had two boys who died in infancy 60 years ago, most likely because of this disorder. The gene to carry the disorder likely was passed on to her and now is apparent in her son.

“People lost babies more often than they do now,” she said. “They did not have neonatal technology they have now. Medical advancement is what saved his life.”

The family was devastated by his diagnosis.

“We take it one day at a time,” Melanie Whiston said. “It’s hard to look too far ahead. It’s a rare condition, but there are other families out there and a wealth of resources.”

• • •

When the Whistons got William’s diagnosis, they withdrew into a kind of hibernation. Instead of circulating during the holidays to show off a new baby, they kept William from possible exposure to a cold – which could kill him – and did research.

The Whistons found Paul and Alison Frase, the parents of Joshua Frase. When Joshua was born Feb. 2, 1995, doctors said he was not expected to survive the day. Joshua survived, and three months later, a muscle biopsy confirmed myotubular myopathy. Paul Frase was a defensive lineman who played for various NFL teams, including the Green Bay Packers.

A year before William was born, Joshua died at 15. But his legacy lives on in a charity the parents founded, Joshua Frase Foundation, to fund research for a cure or effective treatment.

Information on the Frase Foundation’s website,, gave hope to the Whistons, because the muscle disorder was discovered in a Labrador retriever and in her litter of pups. Using the affected offspring, researchers from around the world created pre-clinical gene replacement therapy trials in large animal models to approximate the condition in children, according to the Frases’ website.

Gene replacement treatment is a process where a normal copy of the defective gene – MTM1 – is delivered in the body by a harmless virus. The normal gene replaces the defective one in the DNA sequence, allowing the body to produce the protein myotubularin necessary for muscle development and function.

For the Whistons, news of an effective gene replacement therapy in dogs was their first hope for a cure for William, because afflicted dogs either lived longer than expected or regained mobility.

They founded Where There’s a Will, There’s a Cure Foundation for Myotubular Myopathy,, with the intent to raise $750,000 for toxicity trials for gene replacement therapy in humans.

Since its launch in August, they have raised $50,000.

“By all accounts, the science is there,” Whiston said. “All we need is the money to get us through the toxicity trials. They are basically the precursor before giving it to human beings. It’s coming up with the right amount … to be effective.”

• • •

Toxicity trials would take a year, and once it is complete, researchers would go to the Federal Drug Administration for permission to begin human clinical trials, Whiston said.

Once toxicity trials and the FDA approves the next step, other funding would become available, Whiston said. Researchers would need another $2.5 million for human clinical trials, which could begin by mid 2015 and take up to two years to complete.

The Whistons see an urgent need for funding to find an effective treatment for William.

“Most kids do not make it past 2 years old,” Whiston said. “If we can get this to clinical trials, these [affected] boys will see significant results. We believe we can cure him. We believe he will walk.”

William has an iPad and can move enough to play games and his favorite stories, such as “Green Eggs and Ham,” his mother said. He also loves “Sesame Street.” And just before he got his trache tube, William started to talk and say, “Mama.”

“William, intellectually, is fine,” Melanie Whiston said. “He is a happy little boy. His body can’t do what his brain is telling him to do. This is not a progressive disease, but it’s still very severe. Even if he is not able to walk, if therapy can improve his lung function, that would be a huge improvement. We want him to have a full, happy life.”

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