Local boy fights 'most common disease nobody's ever heard of'

How you can help the search for spinal muscular atrophy cure

Author: Sarah Mayberry, M.P.H., Local 4 Health Producer, @4goodhealth
Published On: Aug 22 2013 10:30:45 PM EDT   Updated On: Aug 23 2013 06:49:47 AM EDT
SMA
FLUSHING, Mich. -

His name is Ben.  He's nearly 3 and 1/2 years old, and he's fighting what some experts call "the most common disease nobody's ever heard of."

It's called spinal muscular atrophy or SMA.  It's the number one genetic killer of babies, affecting one in every 6,000.

But few people have ever heard of SMA, including T.J. and Jason Grindle of Flushing, Mich., until the day they learned their infant son was suffering from it.

Ben was born February 23, 2010, weighing 7 pounds, 3 ounces.  A baby boy to join big sister Lily.

"He was starting to lift his head and do the normal things that babies do," said T.J., Ben's mother.

All of his newborn tests were normal, but at Ben's six week checkup, something wasn't right.

"His doctor had noticed that he was very floppy and didn't have any reflexes," said T.J.

Two weeks later, Ben was diagnosed with spinal muscular atrophy.

SMA is a genetic disease that destroys the nerves that control muscles.  There are four different types.  Ben has Type I -- the most severe.

"They told us it was terminal," said T.J.  "They said that he may have weeks to months to live.  They said take him home, love him, make him comfortable, and enjoy the short time you're going to have with him."

The statistics of SMA are devastating.  Eighty percent of infants with Type I SMA don't live to see their first birthday.  Ninety percent don't make it to their second.

Ben continues to beat the odds.

"We started having a six-month birthday party for him because we didn't think he would get to his first," said T.J.  "We're on our fourth half birthday now."

But life is not easy for Ben.  He can't cough or swallow on his own.  He can't hold up his head and needs round-the-clock care and multiple machines to keep him alive.

SMA does not affect intelligence.  Ben is learning to use his eyes to trigger a machine to help "speak" for him.

One in 40 adults carry the gene that causes SMA.  If two carriers have a child, there is a one in four chance that child will have SMA.

Like most people, Ben's parents had no idea they were carriers.  A blood test can identify people who carry the gene, but it's not routinely offered to would-be parents and typically not covered by insurance.

It all begs the question, why don't more people know about SMA?

"SMA is often fatal very early, and so I think it kind of falls off public view," said SMA researcher Dr. John Kissel.

Kissel and other researchers at the Ohio State University and Nationwide Children's Hospital want to change that.

"We're really on the threshold of major breakthroughs in treating and hopefully curing this disease," said Kissel.

Kissel explained that SMA is different than many other genetic disease, because in addition to the primary gene, there is also a secondary gene, a sort of "spare copy," that partially compensates for the loss of the main gene.  People with milder forms of the disease have more copies of the spare gene.

"The treatment that's been going on really has centered around three kind of main areas," said Kissel.  "One is to try to get this spare copy of the gene to do a little extra work to compensate for the main gene.  The second strategy is to try to trick the spare gene into acting more like the main gene that's missing, and the third strategy is basically to replace the missing gene, and that's what we've been mainly interested in here at Ohio State."

If the FDA approves, Kissel said a new clinical trial involving children will begin in a year or two.  Getting more funding for SMA research is key.

"This disease doesn't hit the radar screen of most people when it comes time for giving," said Kissel.  "It takes a lot of money, and so any help is greatly appreciated by the entire research community."

Ben's family has helped to raise money for SMA research by creating "Team Ben" and "Team Ben Racing."  Funds raised help to support gene therapy research and to provide children with SMA with adapted toys and iPads.

"Whether it's going to be his savior or it's going to be another child that hasn't even been born yet, that could save them.  That's all you can hope for," said Jason, Ben's father.

While Ben's family hopes for a cure, they aren't sitting home waiting.  They've taken Ben to Disney World, a Tiger's game, run a 5K with him, and even gone camping as a family.

"We take him everywhere we can," said Jason.

"We want him to experience life," said T.J., "We want him to have fun and make friends and do all of the things that a three-year-old would do.  And then some."

But that's becoming more challenging.  Ben has to lay flat to travel, and as he's grown, the space in their specially-equipped van has become too tight.

"Our goal is to get a bigger van, so he's able to fit safely and comfortably in there," said Jason.

Ben will start preschool in the fall, another milestone they feared he might never reach.

"We're so thankful for the fighter that he is," said Jason.  "It's his will that has gotten him to where he is.  He's not done.  He's got a lot more life to live."

The Grindle family is having a luau-themed fundraiser in honor of Ben's 3 1/2 year-old birthday on Sunday, August 25th at the Flushing County Park from 2:00pm to 5:00pm.  The address is 4417 N. McKinley Road in Flushing.  There will be bounce houses, face painting, games and more.  For more information, click here.  If you can't attend, but would like to donate to Ben's van fund, click here.  If they're able to raise enough money to get a larger van, the Grindle family wants to donate their current van to another family who can't afford one for their child with SMA.

To learn more about SMA, click here.

To find out more about SMA research at the Ohio State University and Nationwide Children's Hospital, click here.