By John Ramos

ALBANY (CBS SF) — Tuesday marked Rare Disease Day, an international event aimed at raising global awareness about a variety of rare diseases.

For families with children suffering from a rare disease, the search for a cure can be a lonely one.

Two years ago, KPIX 5 told the story of Doug Dooley’s daughter Iris. The little girl was diagnosed with GM1 gangliosidosis, a rare, neurological disease that is always fatal in children.

But the condition is so rare that Doug and his wife, Christine Waggoner, found there wasn’t a lot of help out there for them.

“It’s just devastating. She’s just gonna lose her ability to do everything,” said Dooley. “At first, it’s very lonely.  But if you go out there and fight the fight you find friends”

The couple both worked for Pixar. Using their communications skills, they created an online network that has raised nearly $2 million.

The funds are needed because researchers in Texas and Massachuesetts have developed a remarkable gene therapy that with one treatment has cured cats of the disease.

But because there’s little market for the cure, drug companies haven’t been very interested. So families have to raise funds themselves for the human trials that could save their children’s lives.

And that’s why Waggoner was in Massachusetts Tuesday morning receiving an award for parental advocacy.

She and Doug have given a lot of other parents hope for a cure, even if they can’t feel it themselves.

“I haven’t wanted to let myself even imagine that day, because if it doesn’t happen…” said Dooley tearfully before trailing off.

To learn more about Rare Disease Day and make a donation, please visit the event’s official website.


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