Prader-Willi Syndrome is a complex genetic disorder that affects one in 15,000. One young girl in Rhode Island was diagnosed with the disease soon after she was born and has been battling it ever since.
Two-year-old Siena Di Muccio is an active toddler. She's very curious and loves to play – typical stuff for a girl her age. But it was a long road getting here and she faces a long road ahead. It all began when she was born.
"She came out, there was not a sound. She was gray in color, she didn't cry at all," said Felicia Di Muccio, Siena's mother.
She had very low muscle tone and she looked limped, says her mother.
"She had trouble eating. She was just sleeping all the time, so it was like feeding a sleeping baby," said Felicia.
Doctors suspected a genetic disorder known as Prader-Willi. A blood test done at five weeks confirmed it.
"The main characteristics are low muscle tone, developmental delays and an insatiable hunger," said Felicia.
Siena has experienced the first two. She wasn't able to sit up until she was one, her speech was delayed, and it wasn't until a few months ago on Christmas Day that she took her first steps. Now she runs around everywhere.
No one can predict when Siena will develop the third and potentially most dangerous phase of the syndrome: insatiable appetite.
"People with this syndrome have that constant feeling of hunger. And it's not just I'm hungry, I need to eat something. They feel like they're starving. It's coupled with a low metabolism as well," said Felicia.
Which puts these children at risk for life threatening obesity. Meanwhile, Siena eats only healthy foods, nothing processed. Her mom is hopeful researchers will come up with something to help eliminate the insatiable appetite in children with Prader-Willi.
And the De Muccio family is not only hoping, they're taking action. They're in the midst of planning a fundraiser for this September around Siena's third birthday to raise money for the Foundation for Prader-Wili Research.
