Megan Donnell

There was something about her daughters' development that didn't sit right with Meg Donnell. It was difficult to put her finger on it but it sat deep in her gut and fluttered around the corners of her consciousness. At age two-and-a-half, their daughter seemed physically normal: she was funny and full of energy; she loved singing and dancing and dress-ups. None of the doctors Meg took her to seem to be worried, but something was not quite right.

After a long diagnostic odyssey, at the age of four, she was diagnosed with Sanfilippo Syndrome, a rare and fatal genetic childhood disease. By then, Meg also had a son, Jude, who was two. Four weeks after Isla's diagnosis she learned he also had Sanfilippo.

Doctors told Meg not to chase cures or have false hope. The Sanfilippo patient population is so small - between 70 and 100 kids in Australia - that there is little incentive for drug companies to fund research. The few programs taking place overseas would be too late for Isla and Jude, if they ever made it to market at all. But Meg knew she could never accept that. Within days, she had quit her job and started the Sanfilippo Children's Foundation - if drug companies weren't going to fund research, she would.

And she did. So far, her foundation has invested over $3 million including bringing a pioneering gene therapy treatment to Australia for a clinical trial.