By Erin Wiltgen

chh@heraldsun.com; 419-6654

CHAPEL HILL -- Cheryl Babo walked in a nightmare.

Her 3-year-old son, Ryan -- who had developed normally for more than a year and a half -- was diagnosed with Tay-Sachs, a neurodegenerative disease that affects the brain.

The boy needed a cord marrow transplant. So sick that he could barely walk on his own, Ryan checked into Duke University Hospital for the harsh, dangerous operation.

He died a few months later.

"They tell you, they give you the whole song and dance about the possible complications of the transplant," said Babo, of Chapel Hill. "You just don't realize what that means in terms of suffering. It was horrible and miserable, and the last month of his life he was on a ventilator. He had about nine tubes in him."

Five years later, the nightmares still visit Babo from time to time.

"It was a horrible experience, everything surrounded by Ryan's diagnoses," she said.

Ryan Babo was one of the approximately 30 million people in the U.S. with one of the 7,000 different lysosomal diseases characterized by the lack of an enzyme necessary to break down waste products that build up in cells.

Though the diseases are rare, public knowledge of the condiditons has increased as the number of Americans affected has risen to about 10 percent. The recent movie "Extraordinary Measures" helped this publicity, depicting the story of John Crowley's search for a cure for the lysosomal disease plaguing his two children.

Crowley, who in life was a past president of National Tay-Sachs & Allied Diseases Association, searched for a cure for Pompe Disease, an enzyme deficiency that affects the cardiac system and muscles, said Susan Kahn, the association's executive director.

Kahn said she had heard that the movie portrayed Crowley's story accurately, though she hadn't seen the movie herself. Babo said the movie seemed a little toned down.

"I expected to go there and be completely bowled over," she said. "But for the most part, I didn't have that reaction."

However, Babo still thought the movie fulfilled its purpose of getting the message out.

"It's good for people to know how hard it is to get drugs," she said. "Hardly anyone pays attention to that, including pharmaceutical companies."

Though the movie ends happily, many stories in real life do not. And Ryan's is only one of many sad tales.

Babo said that one of the hardest moments to face as a parent is the constant misdiagnosis. At first, the parents thought their son merely had learning disabilities. Even when it clearly progressed past speech and physical therapy, Babo said one doctor continued to insist that whatever the problem was, it wasn't fatal.

Then the family tried a new doctor.

"He took one look at Ryan and said, 'I'm going to run some tests, but I think I know what this is,'" Babo said. "I asked, 'Well, is he going to die?' And he said yes."

Babo said she felt like she was drowning in shock.

"There's no way to wrap your head around that," she said. "It's just a slap in the face. It's just panic."

Like many parents, Babo looked for a way to make a difference after her son died. She began attending conferences for National Tay-Sachs & Allied Diseases Association, a 50-year-old organization dedicated to researching lysosomal diseases.

"At this point in time, we're really looking, as our mission states, to fight and try to find cures," Kahn said. "First you're dealing with treatments because you're trying to not just prolong life. The goal is to have it be disease-modifying."

Though Babo first went to the convention seeking the other aspect of National Tay-Sachs Association's mission -- that of providing support networks for families -- she soon became interested in the research aspect. Appalled at how little money the organization received for research, she began talking to another parent, and the two began the Cure Tay-Sachs Foundation.

"That was the spark that kind of ignited everything, was seeing how little money was raised for research," said Babo, who's also the chairwoman of the national association's research committee.

Through the efforts of the Cure Tay-Sachs Foundation, a group of researchers managed to obtain a grant from the National Institutes of Health to look into gene therapy.

"Had somebody not funded the researchers, they may never have gotten the grant," Babo said. "There was nobody else out there with the money. The idea was that's what you've got to do as a legacy to your child."