Too Rare to Care: Family fights disease many doctors have never heard of

BELLE CHASSE, La. - When Jody and Julia Taravella brought their infant son, Daniel, home from the hospital 19 years ago, he seemed to Mom "big and perfect."

Within months, there were little issues with a child who was "sick more than a normal kid," Julia said.

As with many children, doctors treated him for hearing problems and assured the Taravellas Daniel would be fine over time.

"We put him in speech therapy and one month would pass, six months, a year, and he's not talking like the other kids," Julia said.

The issues were repeated when Alexander came along five years later.

"We kept hoping that we'd turn the corner," Jody Taravella said. "Teachers would say, 'Within six months, I'll have your child speaking and reading.' Six months would pass and they would be disheartened that they couldn't do it."

Summer school and tutors helped, but never enough.

Daniel was diagnosed with autism spectrum disorder (PDD-NOS or Asperger Syndrome) and Alexander with AD-HD.

"We had to believe what the doctors and everyone was telling us," Jody said. "We're not in the medical field ourselves."

Still, it just did not seem right and, "finally, two, three years ago, I gave for Christmas presents for me and Jody gene sequencing tests," Julia laughed.

Six months later, they got a test for the boys. Inside the 300-page report she got back from the company offering the test was the answer, a secret hidden in genetic code.

"I couldn't find anybody that would help me with that," Julia recalled.

Not a doctor, but a chemical engineer by trade, she took the only course of action she saw left to her and "decided to write the code, the mathematical code to analyze" the results.

There, in front of her, the secret to her boy's issues and nearly two decades of suffering was revealed.

"I really wanted not to believe my results," Julia said. "I really was hoping I made a mistake."

Daniel and Alexander suffer from Aspartylglucosaminuria, or AGU, a rare and fatal metabolic disease.

"She basically diagnosed her kids," said Dr. Steven Gray, a researcher at the University of North Carolina at Chapel Hill. "The doctors didn't diagnose her kids."

AGU patients seem normal at birth, but then Gray said they "kind of slow down in their development."

Gray said patients often plateau in their late teenage years or early 20s before declining, eventually regressing to the mental state of a toddler.

"All of the sudden, you learn your child has a disease you never heard of before and it's about as bad as it could be," Jody Taravella said. "So, your whole life is changed from then."

They also learned that virtually no one in the United States was researching a cure for AGU until they brought their case to Dr. Gray.

"It was like science fiction," Julia said, "like a movie."

That movie might have been Jurassic Park, which before introducing the dinosaurs gave theatre goers a refresher course in high school biology.

DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. In humans, the DNA code is three billion letters long.

All it would take to cause a serious health problem, Dr. Gray noted, "is one of those letters to be messed up in the wrong place."

In Daniel and Alexander, and others suffering from AGU, one gene out of the 20,000 in the human body is out of whack, robbing them of the ability to properly metabolize food.

"That ends up leading to the accumulation of this storage material in cells that become toxic," Gray said.

The key is doctors know which gene.

As devastating and life-changing as the news was for the Taravellas, the proper diagnosis also opened a window.

"In a way, the diagnosis helped us because we could focus our efforts," Jody said. "Before, we were going here, we were going there. Now that the effort is focused."

Their new hope springs from "gene therapy," a potentially powerful tool to cure some diseases that defy conventional means.

Dr. Gray is trying to engineer the shell of a virus, to act as a sort of "delivery truck," and package the correct gene into it.

The treatment could be a one-time injection that "once you've done that, you fixed things and it's permanent."

The process begins with laboratory tests on mice, soon to get under way in North Carolina, which could total $500,000 to complete.

The government-required primate research, Julia said, is even more expensive, at "$50,000 per primate."

Clinical trials, travel costs and other expenses over the next couple of years could easily total $3,500,000, all of which the Taravellas must raise to sustain the research.

"There's no other option," Jody said. "We have to persevere."

The Taravellas plan fundraisers and have set up a website,, to educate people about AGU and the huge financial mountain they must climb.

They argue the issue is bigger than their two kids, since no one knows many people suffer from AGU or other diseases that might involve similar treatments.

Nationwide, NIH estimates rare diseases afflict 20 million Americans.

"You can see the child is in pain, suffering," Julia Taravella said. "They're suffering from a lack of friends. They understand that something is wrong with them."

Their hope is that some of the symptoms could be reversed, allowing Daniel and Alexander to lead somewhat normal lives.

Time is the enemy.

"The disease is progressive," Jody said. "Everyday, it's worse for them."

An NIH website describes gene therapy as promising for a number of reasons, but also "risky." One particular concern is the reaction of the immune system to injections.

The website said gene therapy is, "reserved only for those diseases with no other cure."

Dr. Gray said the outlook is optimistic, "but it's all cutting-edge design of treatments, and so we can't predict the future."

In recent years, gene therapy has resulted in breakthroughs, including treatments for a retinal disease and one type of hemophilia.

At the dinner table, 13-year-old Alexander offers his opinion that two years is too long to wait for a cure.

"Because we is not fixed yet," Alexander said.