Pennsylvania family in search of medical miracle

Becky and Steve Vivian with children (from left) Evan, Ella, Eli, and Eric. The parents' research and other efforts brought information about a possible treatment for Ella and Eli.
Becky and Steve Vivian with children (from left) Evan, Ella, Eli, and Eric. The parents' research and other efforts brought information about a possible treatment for Ella and Eli.
Posted: January 09, 2013

It was only a little hand tremor. That's what the doctors said.

All kids shake a bit, get a little clumsy. Maybe 7-year-old Eli Vivian was dehydrated. Maybe his motor skills lagged a little behind those of his two older brothers.

Not to worry.

Not so easy - for a mother.

So Becky Vivian kept watching. Everything Eli did got the mom once-over, even a potato sack race at Oaks Elementary School. While his classmates stepped into their bags and hopped away, Eli was left behind. He couldn't figure out how to step into the bag and jump while inside it.

"He was trying so hard," said Vivian, of Upper Providence. Finally, Eli stepped out of the bag, held it in his hand, and hopped.

"I just started crying, because I knew something was wrong," said Vivian, 40.

The diagnosis came three months later. Eli has metachromatic leukodystrophy (MLD), a degenerative brain disease for which there is no cure. Younger patients experience a gradual deterioration of their motor and mental skills, become bedridden, and eventually die. The prognosis for older patients is more difficult to predict.

One doctor said to the Vivians, "You'll be lucky if you have [Eli] until he's 15."

Along with the diagnosis came the equally devastating news that MLD is genetic. Eli's siblings had to be tested.

Eric, 13, and Evan, 11, were diagnosed as carriers but don't have MLD. But Ella, Eli's 4-year-old sister, has it.

"They told us, 'There is nothing you can do,' " said Steve Vivian, 46, who works in data-systems sales.

Almost immediately, the Vivians started doing a lot.

They researched online, found other families coping with the diagnosis, set up a blog and a Facebook page.

What they discovered is that about one in 40,000 babies is born with the disease each year. When two carriers have children, each child has a one-in-four chance of contracting the disease.

Patients with MLD lack an enzyme needed for the production and maintenance of myelin, which protects nerves. Myelin facilitates the transmission of nerve impulses from the brain.

Without myelin, communication is disrupted, said David A. Wenger, who runs the Lysosomal Diseases Testing Laboratory at Jefferson Medical College, which diagnoses many MLD cases from around the world.

A patient with MLD might "tell the finger to move" and "it doesn't," Wenger said.

The only treatment currently available in the United States is a bone marrow or blood stem-cell transplant, but the Vivians quickly decided that procedure wasn't something they wanted their children to endure.

The procedures have a "significant" morbidity and mortality rate, said Donald Brogan, the Vivians' pediatrician. If patients survive, "the disease still progresses, maybe at a lower rate, but they ultimately will succumb."

The Vivians didn't want their children to "go through hell" only to lose them at some point in the process. So, they kept researching, and through Facebook they found Amy Price and a little hope.

Price's then-2-year-old son, Giovanni, who has MLD, had undergone an experimental gene therapy treatment at San Raffaele Hospital in Milan, Italy, and was doing well.

During the treatment, doctors inject a virus containing a gene that would potentially aid in the production of the enzyme that MLD patients lack.

Giovanni "had the procedure in February of 2011. He is coming up on his two-year anniversary," said Price, of Omaha. So far, Giovanni's enzyme levels and MRI remain normal, Price said.

The Vivians immediately sought out the treatment for Ella and Eli. After extensive correspondence with doctors in Milan, Ella was accepted but Eli was turned down.

Becky Vivian says she was "devastated," "overwhelmed with joy," and "scared to death" - all at once.

The clinical trial is designed for youngsters like Ella who have not begun to show symptoms. Eli has them, but they are not severe.

The doctors have since reconsidered and may include Eli in the treatment program.

So the Vivians are preparing to move half of the family to Italy for six months.

Their family, friends, neighbors, and fellow church members are offering emotional support and holding fund-raisers.

Eli and Ella have not been told how sick they are. But occasionally, they ask a question that implies that they know something is wrong.

One day, Ella asked, "Why are so many people praying for me and Eli?"

Becky and Steve Vivian will have to answer the question before they travel to Italy this month.


Contact Kristin E. Holmes at 610-313-8211 or kholmes@phillynews.com.

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